Datasets:

---

findzebra

/

case-reports

like 3

Follow

FindZebra 6

[ "Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a favorable outcome. Complications occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during pregnancy and management of complications. They can occur during pregnancy, post-partum and breastfeeding. Support begins with preconception consultation. It involves finding and correcting the biological problems and deficiencies, and management of complications. Genetic counseling is important, it helps prevent inbreeding." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The association with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n exposes the worsening of the disease and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complications of pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n puerperium\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 35 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n had a favorable outcome. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and management of complications. They can occur during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n post-partum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n breastfeeding\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Support begins with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n preconception consultation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. It involves finding and correcting the biological problems and deficiencies, and management of complications. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic counseling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is important, it helps prevent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inbreeding\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "lysosomal storage disorder", "pregnancy", "pregnancy", "Gaucher disease type 1", "pregnancy" ]

[ "complications of pregnancy", "puerperium", "Pregnancy", "Complications", "inbreeding" ]

[ "breastfeeding", "preconception consultation", "Genetic counseling" ]

[ "deficiency of glucocerebrosidase" ]

[ "There are three recombinant enzymes available for the treatment of Gaucher disease (GD): imiglucerase, velaglucerase alfa, and taliglucerase alfa.", "A male GD type III patient, 14 years old, genotype p.L444P/L444, diagnosed at 2 years old. He had been treated with imiglucerase for 9 years since the diagnosis. In 2008, however, he presented a severe adverse reaction to imiglucerase, characterized by cough, laryngeal stridor, and periorbital edema. The infusions were suspended for 3 months when imiglucerase was restarted with premedication and a slower infusion rate. After 5 months, he presented a new adverse reaction with vomiting, tachypnea, cough, and periorbital edema. Intradermal testing confirmed IgE-mediated reaction but serological tests were negative. After 2 years and 10 months with no specific treatment and a significant worsening of the clinical picture, taliglucerase alfa was prescribed, with premedication and a slower infusion rate. At the first infusion, he presented moderate adverse reaction and the infusions were suspended. After 2 months, velaglucerase alfa was initiated uneventfully. He maintains day-hospital infusions without premedication and shows improvement of clinical and laboratory parameters.", "This is the first report of the use of velaglucerase alfa in patients with GD type III. The use of recombinant enzymes is safe for the majority of GD patients, but severe reactions may occur even many years after the beginning of the treatment. Premedication and slower infusion rate reduce the incidence of adverse reactions but may not solve the problem. This case report further demonstrates the different safety profile among all the recombinant enzymes available for the treatment of GD." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recombinant enzymes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n available for the treatment of Gaucher disease (GD): \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase, velaglucerase alfa\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n taliglucerase alfa\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD type III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patient, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genotype p.L444P/L444\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, diagnosed at \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n He\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had been \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treated with imiglucerase for 9 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n since the diagnosis. In 2008, however, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n he\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe adverse reaction to imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, characterized by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cough\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n laryngeal stridor\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n periorbital edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infusions were suspended for 3 months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n when \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase was restarted with premedication and a slower infusion rate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. After 5 months, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n he\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new adverse reaction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n vomiting\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n tachypnea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cough\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n periorbital edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Intradermal testing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n confirmed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n IgE-mediated reaction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n serological tests were negative\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2 years and 10 months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no specific treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n and a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant worsening of the clinical picture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n taliglucerase alfa was prescribed, with premedication and a slower infusion rate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. At the first infusion, he presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n moderate adverse reaction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infusions were suspended\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. After 2 months, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n velaglucerase alfa was initiated uneventfully\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. He \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n maintains day-hospital infusions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without premedication\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n and shows \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n improvement of clinical and laboratory parameters\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is the first report of the use of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n velaglucerase alfa\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD type III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The use of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recombinant enzymes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is safe for the majority of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients, but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n may occur even many years after the beginning of the treatment. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Premedication\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n slower infusion rate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n reduce the incidence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adverse reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n but may not solve the problem. This case report further demonstrates the different safety profile among all the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recombinant enzymes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n available for the treatment of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "GD type III", "GD type III", "GD", "GD" ]

[ "genotype p.L444P/L444" ]

[ "severe adverse reaction to imiglucerase", "cough", "laryngeal stridor", "periorbital edema", "new adverse reaction", "vomiting", "tachypnea", "cough", "periorbital edema", "significant worsening of the clinical picture", "moderate adverse reaction", "improvement of clinical and laboratory parameters", "severe reactions", "adverse reactions" ]

[ "recombinant enzymes", "imiglucerase, velaglucerase alfa", "taliglucerase alfa", "treated with imiglucerase for 9 years", "infusions were suspended for 3 months", "imiglucerase was restarted with premedication and a slower infusion rate", "2 years and 10 months", "taliglucerase alfa was prescribed, with premedication and a slower infusion rate", "infusions were suspended", "velaglucerase alfa was initiated uneventfully", "maintains day-hospital infusions", "velaglucerase alfa", "recombinant enzymes", "Premedication", "slower infusion rate", "recombinant enzymes" ]

[ "IgE-mediated reaction" ]

[ "serological tests were negative", "no specific treatment", "without premedication" ]

[ "Our aims were to present 2 new cases of Gaucher disease involving the jaws and to review the literature.", "Two new cases and the literature from 1982-2011 were reviewed.", "Ten articles describing 35 cases (for a total of 37 with 2 new cases presented) were analyzed. The mandible and maxilla were affected in 97.3% and 24.3% of the reported cases, respectively. Generalized rarefaction of bone (osteopenia) was present in 83.8%, and well-defined radiolucent lesions in 40.5%. The effects on the surrounding structures included loss of cortication of the mandibular canal (56.7%), cortical bone thinning (27%), expansion, root resorption (24.3%), mandibular canal displacement (18.9%), cortical perforation, maxillary sinus obliteration, and tooth displacement (10.8%).", "Two distinct bone abnormalities with separate pathophysiologies, radiographic presentation, and effects on the surrounding structures are suggested: 1) generalized mandibular/maxillary osteopenia and 2) a well-defined radiolucent lesion, which appears only in the mandible. This review refutes 2 accepted assumptions; according to the results, 1) the most common manifestation is generalized osteopenia (and the resulting mandibular canal changes), whereas the well-defined radiolucent lesion is the next most common, and 2) cortical bone thinning/perforations and lamina dura thinning are not uncommon in these patients." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Our aims were to present 2 new cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease involving the jaws\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and to review the literature.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two new cases and the literature from 1982-2011 were reviewed.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Ten articles describing 35 cases (for a total of 37 with 2 new cases presented) were analyzed. The mandible and maxilla were affected in 97.3% and 24.3% of the reported cases, respectively. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Generalized rarefaction of bone (osteopenia)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was present in 83.8%, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n well-defined radiolucent lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in 40.5%. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n effects on the surrounding structures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n included \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n loss of cortication of the mandibular canal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (56.7%), \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cortical bone thinning\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (27%), \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n expansion, root resorption\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (24.3%), \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mandibular canal displacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (18.9%), \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cortical perforation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n maxillary sinus obliteration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n tooth displacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (10.8%).</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two distinct \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with separate pathophysiologies, radiographic presentation, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n effects on the surrounding structures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are suggested: 1) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n generalized mandibular/maxillary osteopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and 2) a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n well-defined radiolucent lesion, which appears only in the mandible\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. This review refutes 2 accepted assumptions; according to the results, 1) the most common manifestation is \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n generalized osteopenia (and the resulting mandibular canal changes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n), whereas the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n well-defined radiolucent lesion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is the next most common, and 2) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cortical bone thinning/perforations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lamina dura thinning\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are not uncommon in these patients.</div>" ]

[ "Gaucher disease involving the jaws" ]

[ "Generalized rarefaction of bone (osteopenia)", "well-defined radiolucent lesions", "effects on the surrounding structures", "loss of cortication of the mandibular canal", "cortical bone thinning", "expansion, root resorption", "mandibular canal displacement", "cortical perforation", "maxillary sinus obliteration", "tooth displacement", "bone abnormalities", "effects on the surrounding structures", "generalized mandibular/maxillary osteopenia", "well-defined radiolucent lesion, which appears only in the mandible", "generalized osteopenia (and the resulting mandibular canal changes", "well-defined radiolucent lesion", "cortical bone thinning/perforations", "lamina dura thinning" ]

[ "The detection of carious lesions is focused on the identification of early mineral changes to allow the demineralisation process to be managed by non-invasive interventions. The methods recommended for clinical diagnosis of initial carious lesions are discussed and illustrated. These include the early detection of lesions, evaluation of the extent of the lesion and its state of activity and the establishment of appropriate monitoring. The place of modern tools, including those based on fluorescence, is discussed. These can help inform patients. They are also potentially useful in regular control visits to monitor the progression or regression of early lesions. A rigorous and systematic approach to caries diagnosis is essential to establish a care plan for the disease and to identify preventive measures based on more precise diagnosis and to reduce reliance on restorative measures." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The detection of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n carious lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is focused on the identification of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early mineral changes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n to allow the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n demineralisation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n process to be managed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-invasive interventions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The methods recommended for clinical diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n initial carious lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are discussed and illustrated. These include the early detection of lesions, evaluation of the extent of the lesion and its state of activity and the establishment of appropriate monitoring. The place of modern tools, including those based on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fluorescence\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, is discussed. These can help inform patients. They are also potentially useful in regular control visits to monitor the progression or regression of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. A rigorous and systematic approach to caries diagnosis is essential to establish a care plan for the disease and to identify preventive measures based on more precise diagnosis and to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n reduce reliance on restorative measures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.</div>" ]

[ "carious lesions", "early mineral changes", "demineralisation", "initial carious lesions", "early lesions" ]

[ "non-invasive interventions" ]

[ "reduce reliance on restorative measures" ]

[ "Avascular necrosis (AVN) is idiopathic in about 40% of cases. The pathophysiology of avascular necrosis remains incompletely elucidated. Here, we report a case that underlines the role for inherited factors in AVN of the femoral heads. Idiopathic AVN of the femoral heads occurred in five members of the same family (a woman, her two paternal aunts, her male paternal cousin and her female paternal cousin) at a mean age of 42.4 years (range, 33-58 years). Standard pelvic radiographs showed Arlet and Ficat stage 4 AVN in three patients and stage 3 in two patients. None of the patients had a history of glucocorticoid therapy, alcohol abuse, or trauma. All five patients underwent investigations for a cause, including blood cell counts, a lipid profile, coagulation tests, testing for antinuclear antibodies, hemoglobin electrophoresis, ultrasonography of the abdomen, and standard radiographs of the long limb bones. The results were normal or negative, ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease. Many cases of familial AVN of the femoral head have been described in patients with sickle cell anemia or Gaucher disease. However, only five families with idiopathic familial AVN of the femoral heads have been reported (three in the US and two in Taiwan). All the patients in these families had isolated bilateral AVN of the femoral heads without AVN at other sites." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Avascular necrosis (AVN)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n idiopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in about 40% of cases. The pathophysiology of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n remains incompletely elucidated. Here, we report a case that underlines the role for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inherited factors\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n AVN of the femoral heads\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Idiopathic AVN of the femoral heads\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n occurred in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n five members of the same family (a woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n , her two paternal aunts, her male paternal cousin and her female paternal cousin)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n at a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mean age of 42.4 years (range, 33-58 years)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Standard pelvic radiographs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Arlet and Ficat stage 4 AVN\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in three patients and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stage 3\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in two patients. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n None\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n of the patients \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n had a history of glucocorticoid therapy, alcohol abuse\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n or trauma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. All five patients underwent investigations for a cause, including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n blood cell counts, a lipid profile\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coagulation tests\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n testing for antinuclear antibodies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hemoglobin electrophoresis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ultrasonography of the abdomen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n standard radiographs of the long limb bones\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n The results were normal or negative\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Many cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n familial AVN of the femoral head\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n have been described in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sickle cell anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. However, only five families with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n idiopathic familial AVN of the femoral heads\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n have been reported (three in the US and two in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Taiwan\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n). All the patients in these families had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n isolated bilateral AVN of the femoral heads\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without AVN at other sites\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.</div>" ]

[ "Avascular necrosis (AVN)", "idiopathic", "avascular necrosis", "AVN of the femoral heads", "Idiopathic AVN of the femoral heads", "Arlet and Ficat stage 4 AVN", "stage 3", "familial AVN of the femoral head", "sickle cell anemia", "Gaucher disease", "idiopathic familial AVN of the femoral heads" ]

[ "inherited factors" ]

[ "isolated bilateral AVN of the femoral heads" ]

[ "Taiwan" ]

[ "None", "had a history of glucocorticoid therapy, alcohol abuse", "or trauma", "The results were normal or negative", "ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease", "without AVN at other sites" ]

[ "There is little information in the literature regarding the clinical progress of brucellosis in patients affected by other diseases. We report Brucella canis human infection link to Gaucher's disease and Guillain Barré syndrome and discuss complications observed in a case with infective endocarditis. The three cases described came from areas of socio-economic deprivation and scarce epidemiological information where the healthcare personnel did not even consider such diagnosis. The growth of large urban populations deprived from basic services has created a new set of global health challenges. Changes in the urban environment due to slum communities' expansion have resulted in increased dog populations in the peridomiciliary environment. Eleven laboratory employees working with the strains found and their identification were examined. Sanitary authorities should focus on the zoonotic aspect of B. canis considering the dramatic increase of canine roamers near urban centers." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There is little information in the literature regarding the clinical progress of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n brucellosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in patients affected by other diseases. We report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Brucella canis human infection\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n link to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Guillain Barré syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and discuss complications observed in a case with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infective endocarditis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The three cases described came from areas of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n socio-economic deprivation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and scarce epidemiological information where the healthcare personnel did not even consider such diagnosis. The growth of large urban populations deprived from basic services has created a new set of global health challenges. Changes in the urban environment due to slum communities' expansion have resulted in increased dog populations in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n peridomiciliary\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n environment. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Eleven laboratory employees\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n working with the strains found and their identification were examined. Sanitary authorities should focus on the zoonotic aspect of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n B. canis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n considering the dramatic increase of canine roamers near urban centers.</div>" ]

[ "brucellosis", "Brucella canis human infection", "Gaucher's disease", "Guillain Barré syndrome", "infective endocarditis", "B. canis" ]

[ "socio-economic deprivation" ]

[ "Gaucher disease is the most common lysosomal storage disorder, and enzyme replacement therapy, such as administration of imiglucerase, is the standard therapy. Anaphylaxis to imiglucerase is rarely reported. Here, we report a 26-year-old female who was diagnosed with type 1 Gaucher disease and referred to our Allergy Outpatient Clinic because of an anaphylactic reaction due to imiglucerase enzyme therapy. A desensitization protocol was administered with two different dilutions with an increasing rate of administration delivered in 10 consecutive steps by intravenous infusion in an intensive care setting. No reactions occurred during the procedure, and the total final dose of 2,000 U was successfully administered. To our knowledge, this is the first adult case with successful desensitization to imiglucerase. Desensitization protocols to drugs in chronic disease patients for whom no alternative therapies are available can be lifesaving." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy, such as administration of imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, is the standard therapy. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anaphylaxis to imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n is rarely reported. Here, we report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n who was diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and referred to our Allergy Outpatient Clinic because of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaphylactic reaction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase enzyme therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n desensitization protocol\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was administered with two different dilutions with an increasing rate of administration delivered in 10 consecutive steps \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n by intravenous infusion in an intensive care setting\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n No reactions occurred during the procedure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the total final dose of 2,000 U was successfully administered\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. To our knowledge, this is the first \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n case with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n successful desensitization to imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Desensitization protocols to drugs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients for whom \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no alternative therapies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n are available can be lifesaving.</div>" ]

[ "Gaucher disease", "lysosomal storage disorder", "type 1 Gaucher disease", "chronic disease" ]

[ "anaphylactic reaction" ]

[ "enzyme replacement therapy, such as administration of imiglucerase", "imiglucerase enzyme therapy", "desensitization protocol", "by intravenous infusion in an intensive care setting", "the total final dose of 2,000 U was successfully administered", "successful desensitization to imiglucerase", "Desensitization protocols to drugs" ]

[ "Anaphylaxis to imiglucerase", "No reactions occurred during the procedure", "no alternative therapies" ]

[ "Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF.", "We analysed the glycosaminoglycans excretion in the amniotic fluid supernatant and four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids we received.", "We investigated 30 NIHF cases, using this fast protocol. We detected two cases of NIHF because of lysosomal diseases, which represent 6.6%. We diagnosed one case of mucopolysaccharidosis type VII and one case of Gaucher disease.", "The fast protocol we designed analyses seven of the most frequent lysosomal pathologies that have been described that may cause NIHF, with only five different determinations, which make the analysis of NIHF fast, cost-effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Nonimmune hydrops fetalis (NIHF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is defined by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n excessive fluid accumulation in more than one foetal compartments and body cavities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n because of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nonimmune reasons\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. It has been described that 14 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n may be causative of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The aim of this study was to design a fast protocol to investigate the most frequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that are reported that may cause \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n analysed the glycosaminoglycans excretion in the amniotic fluid supernatant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n we received.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We investigated 30 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n cases, using this fast protocol. We detected two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n because of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, which represent 6.6%. We diagnosed one case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mucopolysaccharidosis type VII\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and one case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The fast protocol we designed analyses seven of the most frequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal pathologies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that have been described that may cause \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, with only five different determinations, which make the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n analysis of NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n fast, cost-effective and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without need of too much amniotic fluid\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. We believe this protocol may be useful for the analysis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NIHF\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Nonimmune hydrops fetalis (NIHF)", "lysosomal diseases", "NIHF", "lysosomal diseases", "NIHF", "NIHF", "NIHF", "lysosomal diseases", "mucopolysaccharidosis type VII", "Gaucher disease", "lysosomal pathologies", "NIHF", "lysosomal diseases", "NIHF" ]

[ "analysed the glycosaminoglycans excretion in the amniotic fluid supernatant" ]

[ "nonimmune reasons", "without need of too much amniotic fluid" ]

[ "Gaucher's disease (GD) is a rare autosomal recessive (AR) disorder characterized by a deficiency of glucocerebrosidase (glucosylceramidase, acid β-glucosidase). This enzyme deficiency results in an accumulation of sphingolipids in the cells of GD patients, which may contribute to the dysregulation of the immune system, B-cell dysfunction and expression of specific cytokines such as interleukin (IL) -1, IL-6, IL-8, IL-10, and tumor necrosis factor (TNF). Accumulated substrate may directly affect the patient's immunity and pose a higher risk for cancer, especially hematologic malignancies. However, recent large-scale studies suggest that the relative risks of GD and hematologic malignancies are not statistically significant and, therefore, their association with each other remains controversial. In this report, we present the first Asian GD case where the patient was simultaneously diagnosed with a non-Hodgkin's lymphoma. A renal biopsy confirmed that the patient had diffuse large B-cell lymphoma (DLBCL). A bone marrow study during lymphoma staging revealed Gaucher cells with abundant fibrillary, blue-gray cytoplasm and a wrinkled, tissue paper-like appearance. Subsequently, an acid β-glucosidase (GbA) gene mutation study demonstrating two heterozygote mutations, G202R (c.721G>A; p.G241R), a known pathogenic mutation, and a novel mutation R277C (c.946C>T; p.R316C) prompted the diagnosis of GD. Previous case reports have demonstrated concurrent GD and lymphoma in type 1 GD patients, with 40% of patients diagnosed with GD when a lymphoma is detected during disease evaluation. In Korea, GD cases with the G202R gene mutation have been reported in neuropathic patients with a very low frequency. To our knowledge, this case represents the first observation of the G202R mutation in a type 1 GD patient associated with lymphoma. Furthermore, this report is the first patient with DLBCL with kidney involvement along with GD." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare autosomal recessive (AR) disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n characterized by a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of glucocerebrosidase (glucosylceramidase, acid β-glucosidase)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. This \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n results in an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n accumulation of sphingolipids in the cells of GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n patients, which may contribute to the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dysregulation of the immune system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n B-cell dysfunction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n expression of specific cytokines such as interleukin (IL) -1, IL-6, IL-8, IL-10, and tumor necrosis factor (TNF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Accumulated substrate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n may directly affect the patient's immunity and pose a higher risk for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cancer\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, especially \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic malignancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. However, recent large-scale studies suggest that the relative risks of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic malignancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n are not statistically significant and, therefore, their association with each other remains controversial. In this report, we present the first \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Asian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n case where the patient was simultaneously diagnosed with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-Hodgkin's lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n confirmed that the patient had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diffuse large B-cell lymphoma (DLBCL)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow study\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lymphoma staging\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher cells with abundant fibrillary, blue-gray cytoplasm and a wrinkled, tissue paper-like appearance\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Subsequently, an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acid β-glucosidase (GbA) gene mutation study\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n demonstrating \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n two heterozygote mutations, G202R (c.721G&gt;A; p.G241R), a known pathogenic mutation, and a novel mutation R277C (c.946C&gt;T; p.R316C)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n prompted the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Previous case reports have demonstrated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n concurrent GD and lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients, with 40% of patients diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n when a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is detected during disease evaluation. In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Korea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n cases with the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G202R gene mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n have been reported in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neuropathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients with a very low frequency. To our knowledge, this case represents the first observation of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G202R mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 GD patient associated with lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Furthermore, this report is the first patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n DLBCL\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n kidney involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n along with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher's disease (GD)", "cancer", "hematologic malignancies", "GD", "hematologic malignancies", "GD", "non-Hodgkin's lymphoma", "diffuse large B-cell lymphoma (DLBCL)", "GD", "concurrent GD and lymphoma", "type 1 GD", "GD", "lymphoma", "GD", "neuropathic", "type 1 GD patient associated with lymphoma", "DLBCL", "GD" ]

[ "rare autosomal recessive (AR) disorder", "two heterozygote mutations, G202R (c.721G>A; p.G241R), a known pathogenic mutation, and a novel mutation R277C (c.946C>T; p.R316C)", "G202R gene mutation", "G202R mutation" ]

[ "kidney involvement" ]

[ "Asian", "Korea" ]

[ "deficiency of glucocerebrosidase (glucosylceramidase, acid β-glucosidase)", "enzyme deficiency", "dysregulation of the immune system", "B-cell dysfunction", "expression of specific cytokines such as interleukin (IL) -1, IL-6, IL-8, IL-10, and tumor necrosis factor (TNF)" ]

[ "Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectral domain optical coherent tomography. It illustrates clearly that these opacities were pre-retinal opacities located at the vitreo-retinal interface associated with localized posterior vitreous detachments, rather than vitreous opacities as previously suggested in the literature." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fundal opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n have been reported in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare autosomal recessive\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, prior to the advent of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n optical coherent tomography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. This report provides a detailed analysis of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fundal opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with genetically proven \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n using \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n spectral domain optical coherent tomography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. It illustrates clearly that these \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pre-retinal opacities located at the vitreo-retinal interface associated with localized posterior vitreous detachments\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, rather than \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n vitreous opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n as previously suggested in the literature.</div>" ]

[ "Gaucher disease", "lysosomal storage disease", "Gaucher disease" ]

[ "rare autosomal recessive" ]

[ "Fundal opacities", "fundal opacities", "opacities", "pre-retinal opacities located at the vitreo-retinal interface associated with localized posterior vitreous detachments", "vitreous opacities" ]

[ "Ulcerative colitis (UC) is an inflammatory bowel disease that can on rare occasions affect the respiratory tract. We report the case of a 32-year-old woman suffering from UC, for whom 2-deoxy-2[(18)F]fluoro-D-glucose positron emission tomography ((18)F-FDG PET) was useful, both for diagnosis and management of tracheal involvement. She presented with severe cough and fever, and bronchoscopy revealed inflammation of the trachea. Infection, vasculitis and relapsing chondritis were first ruled out. Lymphoma was then suspected, and (18)F-FDG PET was performed, but revealed only a moderately increased uptake on the posterior wall of the trachea. Histological findings revealed non-specific inflammation. Systemic corticosteroids were prescribed and symptoms improved rapidly. After 3 months, bronchoscopy showed a significant reduction of the local inflammation, and (18)F-FDG PET did not reveal the previous abnormal tracheal (18)F-FDG uptake. Management of tracheal involvement of UC requires close monitoring. However, repeated bronchoscopies can be harmful in these inflammatory situations, and non-invasive techniques could be useful. (18)F-FDG PET is used for the follow-up of digestive involvement of UC, but extra-intestinal locations have not been evaluated. Our case highlights the potential interest of (18)F-FDG PET for tracheal involvement of UC, allowing a non-invasive assessment of local inflammation." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ulcerative colitis (UC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inflammatory bowel disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that can on rare occasions \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n affect the respiratory tract\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 32-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n UC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, for whom \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2-deoxy-2[(18)F]fluoro-D-glucose positron emission tomography ((18)F-FDG PET)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n was useful, both for diagnosis and management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n tracheal involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe cough\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fever\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bronchoscopy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inflammation of the trachea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Infection, vasculitis and relapsing chondritis were first ruled out\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n was then suspected, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n (18)F-FDG PET\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n was performed, but revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n only a moderately increased uptake on the posterior wall of the trachea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Histological findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-specific inflammation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Systemic corticosteroids\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n were prescribed and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptoms improved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n rapidly. After 3 months, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bronchoscopy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant reduction of the local inflammation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n (18)F-FDG PET\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n did not reveal the previous abnormal tracheal (18)F-FDG uptake\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n tracheal involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of UC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n requires close monitoring. However, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n repeated bronchoscopies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n can be harmful in these inflammatory situations, and non-invasive techniques could be useful. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n (18)F-FDG PET\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n is used for the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n follow-up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n digestive involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of UC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, but extra-intestinal locations have not been evaluated. Our case highlights the potential interest of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n (18)F-FDG PET\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n tracheal involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of UC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, allowing a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-invasive assessment of local inflammation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n.</div>" ]

[ "Ulcerative colitis (UC)", "inflammatory bowel disease", "UC", "of UC", "of UC", "of UC" ]

[ "affect the respiratory tract", "tracheal involvement", "severe cough", "fever", "inflammation of the trachea", "only a moderately increased uptake on the posterior wall of the trachea", "symptoms improved", "significant reduction of the local inflammation", "tracheal involvement", "digestive involvement", "tracheal involvement" ]

[ "Systemic corticosteroids" ]

[ "Infection, vasculitis and relapsing chondritis were first ruled out", "Lymphoma", "non-specific inflammation", "did not reveal the previous abnormal tracheal (18)F-FDG uptake" ]

[ "Gaucher's disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher's disease has 3 types-non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). It generally presents with delayed milestones, seizures, bony deformities, or massive organomegaly. The acute neuronoapthic variety is the rarer type that predominantly presents with neurological features. The authors present a case of the acute neuronopathic variety of Gaucher's disease where the child presented with only abnormal head position." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare lysosymal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n characterized by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deposition of glucocerebroside in cells of the macrophage monocyte system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has 3 types-\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-neuronopathic (type I)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acute neuronopathic (type II)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic neuronopathic (type III)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. It generally presents with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n delayed milestones\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n seizures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bony deformities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive organomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acute neuronoapthic variety\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the rarer type that predominantly presents with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurological features\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The authors present a case of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acute neuronopathic variety of Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n where the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n only abnormal head position\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Gaucher's disease", "rare lysosymal storage disorder", "Gaucher's disease", "non-neuronopathic (type I)", "acute neuronopathic (type II)", "chronic neuronopathic (type III)", "acute neuronoapthic variety", "acute neuronopathic variety of Gaucher's disease" ]

[ "delayed milestones", "seizures", "bony deformities", "massive organomegaly", "neurological features", "only abnormal head position" ]

[ "Cells with a resemblance to Gaucher cells, sometimes called pseudo-Gaucher cells, are seen in the bone marrow of some patients with hematologic malignancy or anemia. These cells are derived from cells of the monocytic lineage but do not show the characteristic inclusions of true Gaucher cells when examined by electron microscopy. Large numbers of Gaucher-like cells were found in the livers at autopsy of 2 patients with hematologic malignancy treated with chemotherapy and bone marrow transplant. Knowledge of this phenomenon may be useful in the interpretation of liver biopsy done on a patient with bone marrow transplant." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cells with a resemblance to Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, sometimes called \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, are seen \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in the bone marrow\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n of some patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic malignancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. These cells are derived from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cells of the monocytic lineage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n do not show the characteristic inclusions of true Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n when examined by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electron microscopy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Large numbers of Gaucher-like cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n found in the livers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n at \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of 2 patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic malignancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n treated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chemotherapy and bone marrow transplant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Knowledge of this phenomenon may be useful in the interpretation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n done on a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow transplant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>" ]

[ "hematologic malignancy", "anemia", "hematologic malignancy" ]

[ "chemotherapy and bone marrow transplant", "bone marrow transplant" ]

[ "do not show the characteristic inclusions of true Gaucher cells" ]

[ "Gaucher's disease is caused by a deficiency of glucocerebrosidase (GBA) and results in the accumulation of glucocerebroside within macrophages. We report on a 33(+2) gestational week premature infant whose family history was significant for a previously undiagnosed premature sibling with similar clinical features, including severe hydrops fetalis, hepatosplenomegaly, skin lesions at birth followed by death. The diagnosis of Gaucher's disease type 2 in the present case was based on postmortem pathological findings and a subsequent gene analysis that indicated a heterozygous condition for the novel deletion mutation at GBA cDNA nucleotide position 630 resulting in the frameshift (Pro171fsX21) in exon 6 and a G→A transition mutation at GBA cDNA nucleotide position 887 (Arg257Gln) in exon 7." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is caused by a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of glucocerebrosidase (GBA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and results in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n accumulation of glucocerebroside within macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 33(+2) gestational week premature infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n whose \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family history was significant for a previously undiagnosed premature sibling with similar clinical features\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe hydrops fetalis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skin lesions at birth\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n followed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease type 2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in the present case was based on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n postmortem pathological findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and a subsequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gene analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n that indicated a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous condition for the novel deletion mutation at GBA cDNA nucleotide position 630 resulting in the frameshift (Pro171fsX21) in exon 6 and a G→A transition mutation at GBA cDNA nucleotide position 887 (Arg257Gln) in exon 7.\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n</div>" ]

[ "Gaucher's disease", "Gaucher's disease type 2" ]

[ "heterozygous condition for the novel deletion mutation at GBA cDNA nucleotide position 630 resulting in the frameshift (Pro171fsX21) in exon 6 and a G→A transition mutation at GBA cDNA nucleotide position 887 (Arg257Gln) in exon 7." ]

[ "severe hydrops fetalis", "hepatosplenomegaly", "skin lesions at birth", "death" ]

[ "deficiency of glucocerebrosidase (GBA)" ]

[ "Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent. Here, we report two cases of type 2 GD resulting from the inheritance of one identifiable paternal mutant allele and one allele that likely resulted from a maternal germline mutation. Germline mutations or mosiacism are not generally associated with autosomal recessive disorders. The probands from the two unrelated families had the same maternal mutation, leu444pro, that we propose resulted from a de novo maternal germline mutation occurring at this known 'hotspot' for mutation. This first report of a germline mutation for a common point mutation leu444pro (c.1448 T>C;p.leu483pro) in GD has significant implications for molecular diagnostics and genetic counseling in recessive disorders." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that most commonly results from the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Here, we report two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n resulting from the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inheritance of one identifiable paternal mutant allele and one allele that likely resulted from a maternal germline mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Germline mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mosiacism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n are not generally associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n probands from the two unrelated families had the same maternal mutation, leu444pro, that\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n we propose resulted from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n a de novo maternal germline mutation occurring at this known 'hotspot' for mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. This first report of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n germline mutation for a common point mutation leu444pro (c.1448 T&gt;C;p.leu483pro)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has significant implications for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n molecular diagnostics\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic counseling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recessive disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "autosomal recessive storage disorder", "type 2 GD", "GD", "recessive disorders" ]

[ "inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent", "inheritance of one identifiable paternal mutant allele and one allele that likely resulted from a maternal germline mutation", "Germline mutations", "mosiacism", "autosomal recessive disorders", "a de novo maternal germline mutation occurring at this known 'hotspot' for mutation", "germline mutation for a common point mutation leu444pro (c.1448 T>C;p.leu483pro)" ]

[ "genetic counseling" ]

[ "We present the first reported case of a rapid clinical and electroencephalographic response to intravenous levetiracetam infusion of myoclonic status epilepticus in a patient with progressive myoclonus epilepsy due to Gaucher disease. Under continuous video-EEG monitoring, the clinical myoclonic status and the electrographic ictal discharges resolved within 10 minutes after the infusion was initiated. The patient tolerated the treatment well without any reported side effects. This case suggests that levetiracetam may be a safe, effective, and well tolerated intravenous drug in patients with metabolic myoclonic status epilepticus such as Gaucher disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the first reported case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rapid clinical and electroencephalographic response\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intravenous levetiracetam infusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonic status epilepticus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive myoclonus epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Under \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n continuous video-EEG monitoring\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical myoclonic status\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electrographic ictal discharges resolved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n within 10 minutes after the infusion was initiated. The patient tolerated the treatment well \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without any reported side effects\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. This case suggests that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n levetiracetam\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n may be a safe, effective, and well tolerated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intravenous drug\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n metabolic myoclonic status epilepticus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n such as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "myoclonic status epilepticus", "progressive myoclonus epilepsy", "Gaucher disease", "metabolic myoclonic status epilepticus", "Gaucher disease" ]

[ "rapid clinical and electroencephalographic response", "clinical myoclonic status", "electrographic ictal discharges resolved" ]

[ "intravenous levetiracetam infusion", "levetiracetam", "intravenous drug" ]

[ "without any reported side effects" ]

[ "Cutaneous leukocytoclastic vasculitis (CLV) is a necrotizing inflammation of the small vessels in the dermis. We report the case of a Swedish man with an untreated N370S/L444P Gaucher disease who developed CLV at the age of 79 years. The patient has been treated for CLV with topical and oral corticosteroids, moisturizing agents, and periodically with antibiotics for 3 years without improvement. Administration of miglustat (N-butyldeoxynojirimycin; Zavesca®) because of progress of Gaucher disease resulted in a prompt and durable cure of the CLV." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cutaneous leukocytoclastic vasculitis (CLV)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n necrotizing inflammation of the small vessels in the dermis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Swedish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n untreated N370S/L444P Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n who developed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n CLV\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 79 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. The patient has been treated for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n CLV\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n topical and oral corticosteroids, moisturizing agents, and periodically with antibiotics for 3 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without improvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Administration of miglustat (N-butyldeoxynojirimycin; Zavesca®)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n because of progress of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n resulted in a prompt and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n durable cure of the CLV\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Cutaneous leukocytoclastic vasculitis (CLV)", "CLV", "CLV", "Gaucher disease" ]

[ "untreated N370S/L444P Gaucher disease" ]

[ "durable cure of the CLV" ]

[ "topical and oral corticosteroids, moisturizing agents, and periodically with antibiotics for 3 years", "Administration of miglustat (N-butyldeoxynojirimycin; Zavesca®)" ]

[ "Swedish" ]

[ "without improvement" ]

[ "Gaucher disease (GD), an inherited macrophage glycosphingolipidosis, manifests with an extraordinary variety of phenotypes that show imperfect correlation with mutations in the GBA gene. In addition to the classic manifestations, patients suffer from increased susceptibility to hematologic and nonhematologic malignancies. The mechanism(s) underlying malignancy in GD is not known, but is postulated to be secondary to macrophage dysfunction and immune dysregulation arising from lysosomal accumulation of glucocerebroside. However, there is weak correlation between GD/cancer phenotype and the systemic burden of glucocerebroside-laden macrophages. Therefore, we hypothesized that genetic modifier(s) may underlie the GD/cancer phenotype. In the present study, the genetic basis of GD/T-cell acute lymphoblastic lymphoma in 2 affected siblings was deciphered through genomic analysis. GBA gene sequencing revealed homozygosity for a novel mutation, D137N. Whole-exome capture and massively parallel sequencing combined with homozygosity mapping identified a homozygous novel mutation in the MSH6 gene that leads to constitutional mismatch repair deficiency syndrome and increased cancer risk. Enzyme studies demonstrated that the D137N mutation in GBA is a pathogenic mutation, and immunohistochemistry confirmed the absence of the MSH6 protein. Therefore, precise phenotype annotation followed by individual genome analysis has the potential to identify genetic modifiers of GD, facilitate personalized management, and provide novel insights into disease pathophysiology." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inherited macrophage glycosphingolipidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, manifests with an extraordinary variety of phenotypes that show imperfect correlation with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in the GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. In addition to the classic manifestations, patients suffer from increased susceptibility to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic and nonhematologic malignancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The mechanism(s) underlying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n malignancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is not known, but is postulated to be secondary to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n macrophage dysfunction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immune dysregulation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n arising from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal accumulation of glucocerebroside\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. However, there is weak correlation between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD/cancer\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n phenotype and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systemic burden of glucocerebroside-laden macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Therefore, we hypothesized that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic modifier(s)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n may underlie the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD/cancer\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n phenotype. In the present study, the genetic basis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD/T-cell acute lymphoblastic lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in 2 affected siblings was deciphered through \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genomic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GBA gene sequencing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed homozygosity for a novel mutation, D137N. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Whole-exome capture and massively parallel sequencing combined with homozygosity mapping\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n identified a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous novel mutation in the MSH6 gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n that leads to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n constitutional mismatch repair deficiency syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increased cancer risk\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n demonstrated that the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n D137N mutation in GBA is a pathogenic mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immunohistochemistry\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n confirmed the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n absence of the MSH6 protein\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. Therefore, precise phenotype annotation followed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n individual genome analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n has the potential to identify genetic modifiers of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, facilitate personalized management, and provide novel insights into disease pathophysiology.</div>" ]

[ "Gaucher disease (GD)", "hematologic and nonhematologic malignancies", "malignancy", "GD", "GD/cancer", "GD/cancer", "GD/T-cell acute lymphoblastic lymphoma", "GD" ]

[ "inherited macrophage glycosphingolipidosis", "mutations in the GBA gene", "genetic modifier(s)", "homozygous novel mutation in the MSH6 gene", "constitutional mismatch repair deficiency syndrome", "D137N mutation in GBA is a pathogenic mutation" ]

[ "immune dysregulation", "increased cancer risk" ]

[ "absence of the MSH6 protein" ]

[ "Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD.", "We reported sisters with pulmonary involvement in GD type III. Respiratory failure with fatal outcome at 3 years and 4 months of age occurred in K.K. due to pulmonary complications of GD. At the time enzyme replacement therapy (ERT) was not available in Serbia. J.K., homozygous for L444P mutation, developed asymptomatic pulmonary involvement at the age of 6 after 2.5 years of ERT. Pulmonary disease in J.K. was verified by high resolution computerized tomography, cytology of bronchoalveolar lavage fluid and histopathology of transbronchial lung biopsy.", "Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n has been described in all types of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n but it is considered as relatively rare manifestation. There are reports suggesting that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygosity for L444P mutation in GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n is associated with a substantial risk for developing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n primary pulmonary disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We reported \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sisters with pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD type III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Respiratory failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fatal outcome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n at 3 years and 4 months of age\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n occurred in K.K. due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pulmonary complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. At the time \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy (ERT) was not available\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Serbia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. J.K., \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous for L444P mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, developed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n asymptomatic pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 6\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2.5 years of ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulmonary disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in J.K. was verified by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n high resolution computerized tomography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cytology of bronchoalveolar lavage fluid\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n histopathology of transbronchial lung biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Primary lung disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homoallelic for L444P mutation in GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n emerges as a significant clinical manifestation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n unclear response to ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "primary pulmonary disease", "GD", "GD type III", "GD", "Pulmonary disease", "Primary lung disease", "GD" ]

[ "homozygosity for L444P mutation in GBA gene", "homozygous for L444P mutation", "homoallelic for L444P mutation in GBA gene" ]

[ "Pulmonary involvement", "Respiratory failure", "fatal outcome", "pulmonary complications", "asymptomatic pulmonary involvement" ]

[ "2.5 years of ERT" ]

[ "Serbia" ]

[ "enzyme replacement therapy (ERT) was not available", "unclear response to ERT" ]

[ "Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and symptoms are hepatosplenomegaly, bone pain, pathologic fractures, fatigue, bleeding tendency and recurrent infections. Regular enzyme replacement therapy which is available since 1992 in Hungary successfully reverses the symptoms of the disorder, including hematological abnormalities, bone infiltration and hepatosplenomegaly. Authors present here two cases diagnosed in late adulthood to emphasize the importance of early diagnosis and treatment." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most prevalent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n caused by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recessive mutation of the beta-glucocerebrosidase gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, which leads to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. The most common presenting signs and symptoms are \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathologic fractures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fatigue\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bleeding tendency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recurrent infections\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Regular enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n which is available since 1992 in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hungary\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n successfully reverses the symptoms of the disorder, including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematological abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone infiltration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Authors present here two cases diagnosed in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n late adulthood\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n to emphasize the importance of early diagnosis and treatment.</div>" ]

[ "Gaucher disease", "lysosomal storage disorder" ]

[ "recessive mutation of the beta-glucocerebrosidase gene" ]

[ "hepatosplenomegaly", "bone pain", "pathologic fractures", "fatigue", "bleeding tendency", "recurrent infections", "hepatosplenomegaly" ]

[ "Regular enzyme replacement therapy" ]

[ "Hungary" ]

[ "hematological abnormalities" ]

[ "Gaucher's disease is a not exceptional lysosomial disease in Tunisia. Type 1 is by far the most common one. Pulmonary involvement is considered to be rare in type 1 Gaucher's disease. Pulmonary hypertension, infiltration of the lungs with Gaucher cells, and severe hypoxemia due to intrapulmonary arterial-venous shunts, have been described in case reports and small case series. We reported the case of hepatopulmonary syndrome in a 14-year-old boy with type 1 Gaucher disease. The diagnosis of Gaucher disease was established, at 2 years age, by enzyme assay of leucocyte β-glucosidase. The patient presented dyspnoea, digital clubbing and cyanosis of the lips. The arterial blood gas found severe hypoxaemia with PaO(2) at 56.9 mmHg. The diagnosis of hepatopulmonary syndrome, in our patient, was confirmed by demonstration of the intrapulmonary shunting using contrast-enhanced echocardiography and the technetium-99m-labeled macroaggregated albumin. The patient was treated by symptomatic measure, long term oxygen therapy because the insufficiency of the enzyme replacement therapy. Screening for hypoxemia in children with liver disease should be considered." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a not exceptional \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomial disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tunisia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is by far the most common one. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is considered to be rare in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulmonary hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infiltration of the lungs with Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe hypoxemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intrapulmonary arterial-venous shunts\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, have been described in case reports and small case series. We reported the case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatopulmonary syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was established, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n at 2 years age\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme assay of leucocyte β-glucosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. The patient presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dyspnoea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n digital clubbing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cyanosis of the lips\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n arterial blood gas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n found \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe hypoxaemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n PaO(2) at 56.9 mmHg\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatopulmonary syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, in our patient, was confirmed by demonstration of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intrapulmonary shunting\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n using \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n contrast-enhanced echocardiography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n technetium-99m-labeled macroaggregated albumin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. The patient was treated by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptomatic measure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n long term oxygen therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n because the insufficiency of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Screening for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypoxemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n should be considered.</div>" ]

[ "Gaucher's disease", "lysosomial disease", "Type 1", "type 1 Gaucher's disease", "hepatopulmonary syndrome", "type 1 Gaucher disease", "Gaucher disease", "hepatopulmonary syndrome", "hypoxemia", "liver disease" ]

[ "Pulmonary involvement", "Pulmonary hypertension", "severe hypoxemia", "intrapulmonary arterial-venous shunts", "dyspnoea", "digital clubbing", "cyanosis of the lips", "intrapulmonary shunting" ]

[ "symptomatic measure", "long term oxygen therapy", "enzyme replacement therapy" ]

[ "Tunisia" ]

[ "severe hypoxaemia", "PaO(2) at 56.9 mmHg" ]

[ "Gaucher disease is a systemic lysosomal storage disorder with a high prevalence among Ashkenazi Jews. It is caused by an inherited deficiency of the lysosomal enzyme glucocerebrosidase. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, and skeletal involvement. Oral and dental manifestations are less commonly seen. These manifestations are often asymptomatic, although they may be detected by routine dental x-rays. There are several case reports and a few larger series published describing patients with Gaucher disease who have mandibulo-maxillofacial involvement. This review aims to examine the oral manifestations observed in Gaucher disease and to suggest practical guidelines for dealing with these often worrisome signs. Among the critical issues are the benign nature of Gaucher cell infiltration of the mandible and the critical importance of being prepared for postprocedure bleeding and/or infections. Therefore, it is essential that dental practitioners be aware of the possible oral and dental complications of Gaucher disease, as well as the available treatment modalities." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systemic lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with a high prevalence among \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ashkenazi Jews\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. It is caused by an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inherited deficiency of the lysosomal enzyme glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Common signs and symptoms include \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skeletal involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Oral and dental manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are less commonly seen. These manifestations are often \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n asymptomatic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, although they may be detected by routine \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dental x-rays\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. There are several case reports and a few larger series published describing patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n who have \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mandibulo-maxillofacial involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. This review aims to examine the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oral manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n observed in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and to suggest practical guidelines for dealing with these often worrisome signs. Among the critical issues are the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n benign nature of Gaucher cell infiltration of the mandible\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n and the critical importance of being prepared for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n postprocedure bleeding\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and/or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infections\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Therefore, it is essential that dental practitioners be aware of the possible \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oral and dental complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, as well as the available treatment modalities.</div>" ]

[ "Gaucher disease", "systemic lysosomal storage disorder", "Gaucher disease", "Gaucher disease", "Gaucher disease" ]

[ "inherited deficiency of the lysosomal enzyme glucocerebrosidase" ]

[ "hepatosplenomegaly", "skeletal involvement", "Oral and dental manifestations", "mandibulo-maxillofacial involvement", "oral manifestations", "postprocedure bleeding", "infections", "oral and dental complications" ]

[ "Ashkenazi Jews" ]

[ "anemia", "thrombocytopenia" ]

[ "asymptomatic", "benign nature of Gaucher cell infiltration of the mandible" ]

[ "We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n childhood\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and their outcomes after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 9 years of enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The first case concerns a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 6-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n who was diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n after developing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n petechial exanthema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, coinciding with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chickenpox\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The second case involves a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n who was referred to our unit. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n since 4-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and subsequently developed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. Both patients have the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n N370S/L444P mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 6 and 9 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.</div>" ]

[ "type 1 Gaucher's disease", "Gaucher's disease", "chickenpox" ]

[ "N370S/L444P mutation" ]

[ "petechial exanthema", "hepatosplenomegaly", "hepatosplenomegaly" ]

[ "9 years of enzyme replacement therapy", "Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks" ]

[ "thrombocytopenia", "anemia", "thrombocytopenia" ]

[ "The incidence of immunologic reactions in patients with Gaucher's disease (GD) on enzymatic replacement therapy with imiglucerase is about 17% and related with the presence of non-neutralizing immunoglobulin G antibodies. The clinical trials with a new enzyme obtained in human cells (GA-GCB-velaglucerase) have demonstrated absence of immune reactions and no antibodies against the enzyme in spite of some patients had previous developed antibodies against imiglucerase. We present 2 clinical cases of patients diagnosed with EG in childhood and who developed antibodies and important imiglucerase immunoallergic adverse reaction during the imiglucerase perfusion, indicating systematic administration of steroids and antihistamines prior to each perfusion and perfusion time > 4h." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The incidence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immunologic reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzymatic replacement therapy with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is about 17% and related with the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n presence of non-neutralizing immunoglobulin G antibodies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The clinical trials with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new enzyme obtained in human cells (GA-GCB-velaglucerase)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n have demonstrated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n absence of immune reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no antibodies against the enzyme\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n in spite of some patients had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n previous developed antibodies against imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. We present 2 clinical cases of patients diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n EG\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n childhood\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and who developed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n antibodies and important imiglucerase immunoallergic adverse reaction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n during the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase perfusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, indicating \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systematic administration of steroids and antihistamines prior to each perfusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n perfusion time &gt; 4h\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>" ]

[ "Gaucher's disease (GD)", "EG" ]

[ "immunologic reactions", "antibodies and important imiglucerase immunoallergic adverse reaction" ]

[ "enzymatic replacement therapy with imiglucerase", "new enzyme obtained in human cells (GA-GCB-velaglucerase)", "imiglucerase perfusion", "systematic administration of steroids and antihistamines prior to each perfusion", "perfusion time > 4h" ]

[ "presence of non-neutralizing immunoglobulin G antibodies" ]

[ "absence of immune reactions", "no antibodies against the enzyme", "previous developed antibodies against imiglucerase" ]

[ "Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease.", "Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.", "The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most frequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n; \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in the first or second decade of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with the appearance of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone pains\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, but the disease may be diagnosed at \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n any age between 1 and 73 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. In the present study, we report 3 cases with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n late onset of GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in whom the disease was a surprise finding including one patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. This \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n late onset\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is described as an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n form of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Molecular investigation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutational homogeneity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tunisian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patients suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Indeed, all patients carry the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n p.N370S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n: two patients at \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n a homozygous state\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n and one patient at \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n compound heterozygous state\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n p.N370S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n presents a large variability in the onset of the disease and its clinical manifestation supporting the view that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n should be considered as a continuum phenotype rather than a predefined classification.</div>" ]

[ "Gaucher disease (GD)", "lysosomal storage disorder", "type 1", "late onset of GD", "Parkinson disease", "late onset", "Gaucher disease", "GD", "GD" ]

[ "mutational homogeneity", "p.N370S mutation", "a homozygous state", "compound heterozygous state", "p.N370S mutation" ]

[ "bone pains", "splenomegaly" ]

[ "Tunisian" ]

[ "thrombocytopenia" ]

[ "Mesenteric lymphadenopathy has been rarely reported in pediatric patients with Gaucher disease, developing despite the enzyme replacement therapy. The clinical implication of this condition is undetermined, with no consensus on treatment strategies. However, this condition can reflect the progression of Gaucher disease. Moreover, it can be accompanied by the serious complication, protein-losing enteropathy. Our experience underlines the importance of careful monitoring and early intervention for mesenteric lymphadenopathy, especially in pediatric patients with neuronopathic Gaucher disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mesenteric lymphadenopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n has been rarely reported in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, developing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n despite the enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. The clinical implication of this condition is undetermined, with no consensus on treatment strategies. However, this condition can reflect the progression of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Moreover, it can be accompanied by the serious complication, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n protein-losing enteropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. Our experience underlines the importance of careful monitoring and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early intervention\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mesenteric lymphadenopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, especially in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neuronopathic Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease", "neuronopathic Gaucher disease" ]

[ "Mesenteric lymphadenopathy", "mesenteric lymphadenopathy" ]

[ "early intervention" ]

[ "protein-losing enteropathy" ]

[ "despite the enzyme replacement therapy" ]

[ "A 37-year-old Polish immigrant presented with unilateral hip pain and difficulty weight-bearing. Plain radiography and magnetic resonance imaging (MRI) revealed a lytic lesion in the acetabulum, with abnormal serum electrophoresis and bone marrow biopsy. The patient was diagnosed with two rare conditions presenting synchronously - Gaucher disease and plasmacytoma. He was treated with enzyme therapy and radiotherapy, but subsequently developed a recurrence of plasmacytoma in the right femur, confirmed with bone marrow biopsy. This was also treated with radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture. The patient went on to develop multiple lytic lesions in the ribs and vertebra, seen on MRI. Further bone marrow biopsy confirmed dissemination of the plasmacytoma into multiple myeloma, for which he was treated with systemic chemotherapy. In patients presenting with refractory bone or joint pain, haematological and histological investigations should be considered to exclude less common diagnoses." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 37-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Polish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immigrant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n unilateral hip pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n difficulty weight-bearing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Plain radiography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n magnetic resonance imaging (MRI)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lytic lesion in the acetabulum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abnormal serum electrophoresis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. The patient was diagnosed with two rare conditions presenting synchronously - \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plasmacytoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n He\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was treated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme therapy and radiotherapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, but subsequently developed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recurrence of plasmacytoma in the right femur\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, confirmed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. This was also treated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The patient went on to develop \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple lytic lesions in the ribs and vertebra\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, seen on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MRI\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. Further \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n confirmed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dissemination of the plasmacytoma into multiple myeloma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, for which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n he\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was treated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systemic chemotherapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. In patients presenting with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n refractory bone or joint pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n haematological and histological investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n should be considered to exclude less common diagnoses.</div>" ]

[ "Gaucher disease", "plasmacytoma" ]

[ "unilateral hip pain", "lytic lesion in the acetabulum", "multiple lytic lesions in the ribs and vertebra", "refractory bone or joint pain" ]

[ "enzyme therapy and radiotherapy", "radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture", "systemic chemotherapy" ]

[ "Polish" ]

[ "abnormal serum electrophoresis" ]

[ "difficulty weight-bearing" ]

[ "Gauchers disease is a rare lysosomal storage disorder characterized by abnormal accumulation of lipid-laden macrophages in different organs. Though hepatosplenomegaly is commonly found, symptomatic presentation with portal hypertension is rare. We report a child with liver cirrhosis and bleeding esophageal varices who was diagnosed with Gaucher's disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gauchers disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n characterized by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abnormal accumulation of lipid-laden macrophages in different organs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Though \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is commonly found, symptomatic presentation with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n portal hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is rare. We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver cirrhosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bleeding esophageal varices\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n who was diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gauchers disease", "rare lysosomal storage disorder", "liver cirrhosis", "Gaucher's disease" ]

[ "hepatosplenomegaly", "portal hypertension", "bleeding esophageal varices" ]

[ "Gaucher disease in India has been reported only in a few case reports from India. The aim of the study was to assess the response to enzyme replacement therapy in Indian patients with Gaucher disease.", "Retrospective analysis of patients receiving CHO-derived recombinant macrophage-targetted glucocorebrosidase.", "Five centers from India with experience in treating lysosomal storage disorders.", "The diagnosis of Gaucher disease was confirmed by low glucocerebrosidase levels, though it was first made on splenectomy in 8 and on bone marrow examination in 9 patients. Twenty five of 52 patients diagnosed with Gaucher disease (17 Type I, 8 mild Type III) received treatment for >6 months. Indications for treatment included symptomatic anemia, thrombo-cytopenia, organomegaly, bone disease or mild neurological symptoms leading to impairment of quality of life. Patients with significant neurological involvement were excluded. The drug infusions were given intravenously every 15 days.", "Hemoglobin, platelet counts, liver and spleen volumes and growth parameters.", "22 of the 25 children who survived were analyzed. After 6 months of treatment, the mean (range) increase in hemoglobin was 1.5 (-3.4 to 6.1) g/dL (P=0.01) and in platelet count was 32 x 10(9)/L (-98.5 x 109 to 145.5 x10(9))/L (P=0.02). The mean (range) increase in weight was 3 kg (-5.6 to 10.5) (P=0.04) and in height was 7.1 cm (0 to 26.5) (P=0.0003). Liver size decreased by a mean (range) of 38.5% (- 5.5 to 86.7) (P=0.0003) and the spleen size by 34.8% (0 to 91.7) (P=0.004). All patients had improvement in bone pains and in 2 patients, neurological symptoms improved with others remaining static.", "This is the first reported cohort of patients in India reporting our experience with imiglucerase enzyme replacement therapy for treatment of Gaucher Disease in India." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n India\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n has been reported only in a few case reports from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n India\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. The aim of the study was to assess the response to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Indian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Retrospective analysis of patients receiving \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n CHO-derived recombinant macrophage-targetted glucocorebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Five centers from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n India\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n with experience in treating \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was confirmed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n low glucocerebrosidase levels\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, though it was first made on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in 8 and on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in 9 patients. Twenty five of 52 patients diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n (17 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, 8 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild Type III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n) received \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treatment for &gt;6 months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Indications for treatment included \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptomatic anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombo-cytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n organomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild neurological symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n leading to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n impairment of quality of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant neurological involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were excluded. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n drug infusions were given intravenously every 15 days\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hemoglobin, platelet counts\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver and spleen volumes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth parameters\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">22 of the 25 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n who survived were analyzed. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n After 6 months of treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mean (range) increase in hemoglobin was 1.5 (-3.4 to 6.1) g/dL\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n (P=0.01) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n and in platelet count was 32 x 10(9)/L (-98.5 x 109 to 145.5 x10(9))/L\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n (P=0.02). The mean (range) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increase in weight was 3 kg (-5.6 to 10.5)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (P=0.04) and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in height was 7.1 cm (0 to 26.5)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (P=0.0003). \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Liver size decreased by a mean (range) of 38.5% (- 5.5 to 86.7)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (P=0.0003) and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the spleen size by 34.8% (0 to 91.7)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (P=0.004). All patients had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n improvement in bone pains\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and in 2 patients, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurological symptoms improved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n others remaining static\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is the first reported cohort of patients in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n India\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n reporting our experience with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for treatment of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher Disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n India\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease", "lysosomal storage disorders", "Gaucher disease", "Gaucher disease", "Type I", "mild Type III", "Gaucher Disease" ]

[ "organomegaly", "bone disease", "mild neurological symptoms", "impairment of quality of life", "significant neurological involvement", "liver and spleen volumes", "growth parameters", "increase in weight was 3 kg (-5.6 to 10.5)", "in height was 7.1 cm (0 to 26.5)", "Liver size decreased by a mean (range) of 38.5% (- 5.5 to 86.7)", "the spleen size by 34.8% (0 to 91.7)", "improvement in bone pains", "neurological symptoms improved", "others remaining static" ]

[ "enzyme replacement therapy", "CHO-derived recombinant macrophage-targetted glucocorebrosidase", "splenectomy", "treatment for >6 months", "drug infusions were given intravenously every 15 days", "After 6 months of treatment", "imiglucerase enzyme replacement therapy" ]

[ "India", "India", "Indian", "India", "India", "India" ]

[ "low glucocerebrosidase levels", "symptomatic anemia", "thrombo-cytopenia", "Hemoglobin, platelet counts", "mean (range) increase in hemoglobin was 1.5 (-3.4 to 6.1) g/dL", "and in platelet count was 32 x 10(9)/L (-98.5 x 109 to 145.5 x10(9))/L" ]

[ "Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersplenism, such as splenomegaly, anaemia, thrombocytopenia and leucopenia. Skeletal disease may occur later for the infiltration of bone marrow by macrophages infiltration and bone resorption: bone involvement may be heterogeneously manifested by symptoms ranging from bone crisis to avascular necrosis, osteoporosis and defect in remodeling of long bones. Herein, we report a patient in whom the osteoarticular involvement has been the only symptom of the disease stressing that this unusual presentation of GD has prompted a wide differential diagnosis with more common forms of coxitis." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD) type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n beta glucocerebrosidase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n leading to an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. The disease presentation is usually characterized by signs and symptoms related to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypersplenism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, such as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n leucopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Skeletal disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n may occur later for the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infiltration of bone marrow by macrophages infiltration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone resorption\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n may be heterogeneously manifested by symptoms ranging from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone crisis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteoporosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n defect in remodeling of long bones\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Herein, we report a patient in whom the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteoarticular involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n has been the only symptom of the disease stressing that this unusual presentation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has prompted a wide differential diagnosis with more common forms of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coxitis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD) type 1", "lysosomal storage disorder", "Skeletal disease", "GD", "coxitis" ]

[ "bone involvement", "bone crisis", "avascular necrosis", "osteoporosis", "defect in remodeling of long bones", "osteoarticular involvement" ]

[ "beta glucocerebrosidase deficiency", "hypersplenism", "splenomegaly", "anaemia", "thrombocytopenia", "leucopenia" ]

[ "Gaucher's disease is an autosomal recessive inherited disease characterized by oraganomegaly, cytopenia and bone destruction. Clotting disorders and platelet dysfunctions are described. We report the case of a 22-year-old man who presented subacute groin pain due to spontaneous iliopsoas hematoma. Laboratory investigations found moderate thrombocytopenia, normal coagulation factor activities and unspecific platelet function test disturbances. His spleen was moderately enlarged and no significant bone lesions were found. Iliopsoas hematoma is a rare complication in Gaucher's disease and should be included in the differential diagnosis of pain localized to the groin-hip area, which could rather evoke hip osteonecrosis in this context." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive inherited disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n characterized by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oraganomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone destruction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Clotting disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n platelet dysfunctions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n are described. We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n who presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n subacute groin pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n spontaneous iliopsoas hematoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Laboratory investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n found \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n moderate thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n normal coagulation factor activities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n unspecific platelet function test disturbances\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. His \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n spleen was moderately enlarged\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no significant bone lesions were found\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Iliopsoas hematoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is a rare complication in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and should be included in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pain localized to the groin-hip area\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, which could rather evoke \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hip osteonecrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in this context.</div>" ]

[ "Gaucher's disease", "Gaucher's disease", "hip osteonecrosis" ]

[ "autosomal recessive inherited disease" ]

[ "oraganomegaly", "bone destruction", "subacute groin pain", "spontaneous iliopsoas hematoma", "spleen was moderately enlarged", "Iliopsoas hematoma", "pain localized to the groin-hip area" ]

[ "cytopenia", "Clotting disorders", "platelet dysfunctions", "moderate thrombocytopenia" ]

[ "normal coagulation factor activities", "unspecific platelet function test disturbances", "no significant bone lesions were found" ]

[ "Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the non-neuronopathic form of Gaucher disease caused by saposin C deficiency [Tylki-Szymańska et al., 2007]. In this article, we present a follow up of clinical and biochemical findings in one patient who has been treated with miglustat for two years. We observed that administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum. In two individuals (described in this article) very slow deterioration of the peripheral and central nervous systems was observed." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n occurs mainly as a result of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of the lysosomal enzyme beta-glucocerebrosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. A rare variant form of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is known in which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n saposin C required for glucosylceramide degradation is deficient\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. In an earlier paper we described the first cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n two siblings with the non-neuronopathic form of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n caused by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n saposin C deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n [Tylki-Szymańska et al., 2007]. In this article, we present a follow up of clinical and biochemical findings in one patient who has been \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treated with miglustat for two years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. We observed that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. In two individuals (described in this article) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n very slow deterioration of the peripheral and central nervous systems\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was observed.</div>" ]

[ "Gaucher disease", "Gaucher disease" ]

[ "very slow deterioration of the peripheral and central nervous systems" ]

[ "treated with miglustat for two years" ]

[ "deficiency of the lysosomal enzyme beta-glucocerebrosidase activity", "saposin C required for glucosylceramide degradation is deficient", "saposin C deficiency" ]

[ "administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum" ]

[ "Hemophagocytic lymphohistiocytosis (HLH) may develop secondary to infections, malignancies, immune deficiency syndromes, and rheumatologic and metabolic disorders. Associations between HLH and inborn errors of metabolism, including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, have previously been reported in the literature. In this report the authors present 3 children with disorders of propionate metabolism--1 with methylmalonic acidemia and 2 with propionic acidemia--who developed secondary HLH during their metabolic attacks. All patients fulfilled the 5 HLH criteria of the Histiocyte Society. Familial HLH was ruled out by molecular analysis. Plasma exchange was performed for 2 of them. Unfortunately 1 died of multiorgan failure despite intensive therapy. This is the first report of such an association." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hemophagocytic lymphohistiocytosis (HLH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n may develop secondary to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infections\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n malignancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immune deficiency syndromes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rheumatologic and metabolic disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Associations between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HLH\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inborn errors of metabolism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysinuric protein intolerance\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple sulfatase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n galactosemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pearson syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n galactosialidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, have previously been reported in the literature. In this report the authors present 3 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with disorders of propionate metabolism--1 with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n methylmalonic acidemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and 2 with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n propionic acidemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n--who developed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n secondary HLH\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n during their \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n metabolic attacks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. All patients fulfilled the 5 HLH criteria of the Histiocyte Society. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial HLH was ruled out by molecular analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Plasma exchange\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was performed for 2 of them. Unfortunately 1 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n died of multiorgan failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n despite intensive therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. This is the first report of such an association.</div>" ]

[ "Hemophagocytic lymphohistiocytosis (HLH)", "malignancies", "immune deficiency syndromes", "rheumatologic and metabolic disorders", "HLH", "inborn errors of metabolism", "lysinuric protein intolerance", "multiple sulfatase deficiency", "galactosemia", "Gaucher disease", "Pearson syndrome", "galactosialidosis", "methylmalonic acidemia", "propionic acidemia", "secondary HLH" ]

[ "infections", "metabolic attacks", "died of multiorgan failure" ]

[ "Plasma exchange" ]

[ "Familial HLH was ruled out by molecular analysis", "despite intensive therapy" ]

[ "Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD--bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n characterized by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n reduced or absent activity of glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The disease is split into three types. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 3,\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic neuronopathic GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, manifests with heterogeneous clinical presentations. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Skeletal manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n can include \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abnormal bone remodeling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n resulting in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n characteristic Erlenmeyer flask deformities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n painful bone crises\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increased frequency of fractures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Osteolytic lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n can also occur but are rare and tend to be \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n large, expanding intramedullary lesions with cortical thinning\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We present two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adolescent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 3 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n who developed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bilateral symmetrical cortical osteolytic lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The lesions in both cases demonstrate \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n predominant cortical scalloping with fairly indolent growth\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Neither patient manifests some of the more common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bony manifestations of GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n--\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone crises\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteonecrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. These \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n atypical and unique skeletal findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in two unrelated probands with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 3 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n further expand the extent of phenotypic variation encountered in this \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n single gene disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "lysosomal storage disorder", "Type 3,", "chronic neuronopathic GD", "GD", "type 3 GD", "type 3 GD" ]

[ "autosomal recessive", "single gene disorder" ]

[ "Skeletal manifestations", "abnormal bone remodeling", "characteristic Erlenmeyer flask deformities", "painful bone crises", "osteopenia", "increased frequency of fractures", "Osteolytic lesions", "large, expanding intramedullary lesions with cortical thinning", "bilateral symmetrical cortical osteolytic lesions", "predominant cortical scalloping with fairly indolent growth", "bony manifestations of GD", "bone crises", "atypical and unique skeletal findings" ]

[ "reduced or absent activity of glucocerebrosidase" ]

[ "osteonecrosis" ]

[ "Gaucher's disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher's disease patient with atypical presentation." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most frequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sphingolipid storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We present a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 non-neuropathic type of adult Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n atypical presentation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Gaucher's disease", "sphingolipid storage disease", "type 1 non-neuropathic type of adult Gaucher's disease" ]

[ "atypical presentation" ]

[ "Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Perinatal-lethal Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is very rare and is considered a variant of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that occurs in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neonatal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n period\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. The most distinct features of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n perinatal-lethal Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n are \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-immune hydrops fetalis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in utero fetal demise\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neonatal distress\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. In some cases \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without hydrops\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurological signs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n occur \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in the first week of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and lead to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n within 3 months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. Less common signs of the disease are \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ichthyosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n arthrogryposis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n facial dysmorphy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n preterm\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neonate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous for R463H mutation in GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n who showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe neurologic signs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in addition to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n refractory thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomagaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n direct hyperbilirubinemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n facial dysmorphy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ichthyosiform skin abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in addition to having \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombosis in portal and splenic veins\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n possibly due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygosity for C677T mutation in MTHFR gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. To the best of our knowledge, this is the first case \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous for the GBA R463H mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n resulting in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with a concomitant \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous MTHFR C677T mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>" ]

[ "Perinatal-lethal Gaucher disease", "type 2 Gaucher disease", "perinatal-lethal Gaucher disease", "non-immune hydrops fetalis", "Gaucher disease", "Gaucher disease" ]

[ "homozygous for R463H mutation in GBA gene", "homozygosity for C677T mutation in MTHFR gene", "homozygous for the GBA R463H mutation", "homozygous MTHFR C677T mutation" ]

[ "in utero fetal demise", "neonatal distress", "neurological signs", "death", "hepatosplenomegaly", "ichthyosis", "arthrogryposis", "facial dysmorphy", "severe neurologic signs", "hepatosplenomagaly", "facial dysmorphy", "ichthyosiform skin abnormalities", "thrombosis in portal and splenic veins" ]

[ "refractory thrombocytopenia", "direct hyperbilirubinemia" ]

[ "without hydrops" ]

[ "A 14 months old boy of consanguineous parent presented with hepatosplenomegaly with delayed mile stones of development. He is till unable to walk. He was moderately anemic. Moderately wasted and stunted. Neurological examination was normal except subnormal intelligence. This subnormal intelligence and delayed milestone possibly may be due to secondary effect of growth retardation. Musculo-skeletal system examination revealed no abnormality. Diagnosis was supported by typical bone involvement in X-ray film (Thin cortex in Limb bone) and Gaucher cell in the splenic aspiration. There are three sub-types Type I: Non neuropathic form. Type II: Acute neuropathic form. Type III: Chronic neuropathic form. However, some cases do not fit precisely into one of these categories. All forms of Gaucher disease are autosomal recessively inherited. So, this patient more or less correlates with Gaucher disease type I. Treatment option for type I and III include medicine and enzyme replacement therapy, which is usually very effective." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14 months old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n consanguineous parent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n delayed mile stones of development\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n He\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n is till \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n unable to walk\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n He\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n moderately anemic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Moderately wasted\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stunted\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Neurological examination was normal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n except \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n subnormal intelligence\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. This \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n subnormal intelligence\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n delayed milestone\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n possibly may be due to secondary effect of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth retardation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Musculo-skeletal system examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no abnormality\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Diagnosis was supported by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n typical bone involvement in X-ray film (Thin cortex in Limb bone)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher cell in the splenic aspiration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. There are three sub-types \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type I: Non neuropathic form\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type II: Acute neuropathic form\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chronic neuropathic form\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. However, some cases do not fit precisely into one of these categories. All forms of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n are \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessively inherited\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. So, this patient more or less correlates with Gaucher disease type I. Treatment option for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I and III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n include \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n medicine\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, which is usually very effective.</div>" ]

[ "Type I: Non neuropathic form", "Type II: Acute neuropathic form", "Type III", "Chronic neuropathic form", "Gaucher disease", "type I and III" ]

[ "autosomal recessively inherited" ]

[ "hepatosplenomegaly", "delayed mile stones of development", "Moderately wasted", "stunted", "subnormal intelligence", "subnormal intelligence", "delayed milestone", "growth retardation", "typical bone involvement in X-ray film (Thin cortex in Limb bone)" ]

[ "medicine", "enzyme replacement therapy" ]

[ "moderately anemic" ]

[ "unable to walk", "Neurological examination was normal", "no abnormality" ]

[ "Lysosomal integral membrane protein type 2 (LIMP-2) is responsible for proper sorting and lysosomal targeting of glucocerebrosidase, the enzyme deficient in Gaucher disease (GD). Mutations in the gene for LIMP-2, SCARB2, are implicated in inherited forms of myoclonic epilepsy, and myoclonic epilepsy is part of the phenotypic spectrum associated with GD. We investigated whether SCARB2 mutations impact the Gaucher phenotype focusing on patients with myoclonic epilepsy, including a pair of siblings with GD who were discordant for myoclonic seizures. Sequencing of SCARB2 genomic and cDNA identified a heterozygous, maternally inherited novel mutation, c.1412A>G (p.Glu471Gly), in the brother with GD and myoclonic epilepsy, absent from his sibling and controls. Glucocerebrosidase activity, Western blots, real-time PCR, and immunofluorescence studies demonstrated markedly decreased LIMP-2 and glucocerebrosidase in cells from the sibling with (p.Glu471Gly) LIMP-2, and diminished glucocerebrosidase in lysosomes. The cells secreted highly glycosylated enzyme and showed mistrafficking of glucocerebrosidase. Sequencing of SCARB2 in 13 other subjects with GD and myoclonic epilepsy and 40 controls failed to identify additional mutations. The study provides further evidence for the association of LIMP-2 and myoclonic epilepsy, explains the drastically different phenotypes encountered in the siblings, and demonstrates that LIMP-2 can serve as a modifier in GD." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lysosomal integral membrane protein type 2 (LIMP-2)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n is responsible for proper sorting and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal targeting of glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme deficient\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutations in the gene for LIMP-2, SCARB2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, are implicated in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inherited\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n forms of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonic epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonic epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is part of the phenotypic spectrum associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We investigated whether \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n SCARB2 mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n impact the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n phenotype focusing on patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonic epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, including a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pair of siblings with GD who were discordant for myoclonic seizures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sequencing of SCARB2 genomic and cDNA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n identified a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous, maternally inherited novel mutation, c.1412A&gt;G (p.Glu471Gly), in the brother with GD and myoclonic epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n absent from his sibling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n and controls. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Glucocerebrosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Western blots\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n real-time PCR\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immunofluorescence studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n demonstrated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n markedly decreased LIMP-2 and glucocerebrosidase in cells from the sibling with (p.Glu471Gly) LIMP-2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diminished glucocerebrosidase in lysosomes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n The cells secreted highly glycosylated enzyme and showed mistrafficking of glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sequencing of SCARB2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in 13 other subjects with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonic epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and 40 controls \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n failed to identify additional mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. The study provides further evidence for the association of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n LIMP-2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonic epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, explains the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n drastically different phenotypes encountered in the siblings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, and demonstrates that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n LIMP-2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n can serve as a modifier in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "myoclonic epilepsy", "myoclonic epilepsy", "GD", "Gaucher", "myoclonic epilepsy", "GD", "myoclonic epilepsy", "LIMP-2", "myoclonic epilepsy", "GD" ]

[ "Lysosomal integral membrane protein type 2 (LIMP-2)", "Mutations in the gene for LIMP-2, SCARB2", "inherited", "SCARB2 mutations", "heterozygous, maternally inherited novel mutation, c.1412A>G (p.Glu471Gly), in the brother with GD and myoclonic epilepsy", "LIMP-2" ]

[ "lysosomal targeting of glucocerebrosidase", "enzyme deficient", "Glucocerebrosidase activity" ]

[ "failed to identify additional mutations" ]

[ "Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations.", "A 44-year-old woman suffering from slowness and paresthesia of the left arm for the previous 1.5years, visited our hospital to manage known invasive ductal carcinoma. During a preoperative evaluation, she was diagnosed with Gaucher's disease and double mutations of S271G and R359X in GBA. Parkinsonian features including low amplitude postural tremors, rigidity, bradykinesia and shuffling gait were observed. Genetic analysis also revealed that her older sister, who had also been diagnosed with PD and had been taking dopaminergic drugs for 8-years, also possessed a heterozygote R359X mutation in GBA. (18)F-fluoropropylcarbomethoxyiodophenylnortropane positron-emission tomography in these patients revealed decreased uptake of dopamine transporter in the posterior portion of the bilateral putamen.", "This case study demonstrates Korean familial cases of PD with heterozygote mutation of GBA, further supporting the association between PD and GBA mutation." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n caused by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations of the β-glucocerebrosidase gene (GBA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. There is increasing evidence that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GBA mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n are a genetic risk factor for the development of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson's disease (PD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We report herein a family of Koreans exhibiting \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n parkinsonism-associated GBA mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 44-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n slowness and paresthesia of the left arm for the previous 1.5years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, visited our hospital to manage known \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n invasive ductal carcinoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. During a preoperative evaluation, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n double mutations of S271G and R359X in GBA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinsonian features\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n low amplitude postural tremors\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rigidity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bradykinesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n shuffling gait\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were observed. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n also revealed that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n older sister, who had also been diagnosed with PD and had been taking dopaminergic drugs for 8-years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n , also possessed a heterozygote R359X mutation in GBA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n (18)F-fluoropropylcarbomethoxyiodophenylnortropane positron-emission tomography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in these patients revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n decreased uptake of dopamine transporter in the posterior portion of the bilateral putamen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case study demonstrates \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Korean\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n familial cases of PD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygote mutation of GBA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, further supporting the association between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n PD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GBA mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>" ]

[ "Gaucher's disease", "lysosomal storage disease", "Parkinson's disease (PD)", "invasive ductal carcinoma", "Gaucher's disease", "PD" ]

[ "autosomal recessive", "mutations of the β-glucocerebrosidase gene (GBA)", "GBA mutations", "parkinsonism-associated GBA mutations", "double mutations of S271G and R359X in GBA", "heterozygote mutation of GBA", "GBA mutation" ]

[ "slowness and paresthesia of the left arm for the previous 1.5years", "Parkinsonian features", "low amplitude postural tremors", "rigidity", "bradykinesia", "shuffling gait" ]

[ "Korean" ]

[ "The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of Gaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologist\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n is at the forefront of specialists to whom patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n present because of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Usually, patients with such symptoms have undergone \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n trephine biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. We present the cases of two patients in whom \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was suspected because of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n discovery of Gaucher cells in trephine biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, and subsequently confirmed via \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzymatic and molecular investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease" ]

[ "hepatosplenomegaly" ]

[ "cytopenia" ]

[ "Infantile Gaucher's disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gaucher's disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typical of interstitial and airspace disease. Cor pulmonale in this patient was a result of severe pulmonary hypertension." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Infantile Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n presenting as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cor pulmonale\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is rarely reported in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n literature. We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 3.3 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infantile Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n who presented to us as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n interstitial lung disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pulmonary hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n along with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n features of cor pulmonale\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n high resolution CT findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n were typical of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n interstitial and airspace disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cor pulmonale\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in this patient was a result of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe pulmonary hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Infantile Gaucher's disease", "cor pulmonale", "infantile Gaucher's disease", "interstitial lung disease" ]

[ "pulmonary hypertension", "features of cor pulmonale", "Cor pulmonale", "severe pulmonary hypertension" ]

[ "Parkinson's disease is associated with mutations in the glucocerebrosidase gene, which result in the enzyme deficiency causing Gaucher disease, the most common lysosomal storage disorder. We have performed an exhaustive literature search and found that additional lysosomal storage disorders might be associated with Parkinson's disease, based on case reports, the appearance of pathological features such as α-synuclein deposits in the brain, and substantia nigra pathology. Our findings suggest that the search for biochemical and cellular pathways that link Parkinson's disease with lysosomal storage disorders should not be limited exclusively to changes that occur in Gaucher disease, such as changes in glucocerebrosidase activity or in glucosylceramide levels, but rather include changes that might be common to a wide variety of lysosomal storage disorders. Moreover, we propose that additional genetic, epidemiological, and clinical studies should be performed to check the precise incidence of mutations in genes encoding lysosomal proteins in patients displaying Parkinson's symptoms." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in the glucocerebrosidase gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, which result in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n causing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, the most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We have performed an exhaustive literature search and found that additional \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n might be associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, based on case reports, the appearance of pathological features such as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n α-synuclein deposits in the brain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n substantia nigra pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Our findings suggest that the search for biochemical and cellular pathways that link \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n should not be limited exclusively to changes that occur in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, such as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n changes in glucocerebrosidase activity or in glucosylceramide levels\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, but rather include changes that might be common to a wide variety of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Moreover, we propose that additional genetic, epidemiological, and clinical studies should be performed to check the precise incidence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in genes encoding lysosomal proteins\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in patients displaying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson's symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Parkinson's disease", "Gaucher disease", "lysosomal storage disorder", "lysosomal storage disorders", "Parkinson's disease", "Parkinson's disease", "lysosomal storage disorders", "Gaucher disease", "lysosomal storage disorders" ]

[ "mutations in the glucocerebrosidase gene", "mutations in genes encoding lysosomal proteins" ]

[ "Parkinson's symptoms" ]

[ "enzyme deficiency", "changes in glucocerebrosidase activity or in glucosylceramide levels" ]

[ "This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory failure 1 month postpartum having made no neurological progress. Molecular analysis identified a previously not reported homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This paper describes a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neonate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type II Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The phenotype was unusually severe with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n congenital ichthyosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n muscular hypotonia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n respiratory failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Electron microscopy of the skin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lamellar body contents in the stratum corneum interstices\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, appearances considered to be typical of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type II Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n baby\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n died\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n respiratory failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 1 month postpartum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n having \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n made no neurological progress\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Molecular analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n identified a previously not reported \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene.\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n</div>" ]

[ "type II Gaucher disease" ]

[ "homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene." ]

[ "congenital ichthyosis", "hepatosplenomegaly", "muscular hypotonia", "myoclonus", "respiratory failure", "died", "respiratory failure" ]

[ "made no neurological progress" ]

[ "We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-adolescence with hepatosplenomegaly and early-onset bone involvement. The Proband had a normal physical examination, no organomegaly, and normal blood counts, skeletal survey, and bone density. Leukocyte acid ß-glucosidase and plasma chitotriosidase activities were normal. To investigate these unexpected results, her GBA alleles were RT-PCR amplified and sequenced. Five RT-PCR clones were negative for both mutations, while five clones had the c.1226A>G(p.N370S) and c.1448T>C(p.L444P) mutations, along with c.1483G>C(p.A456P), and c.1497G>C(p.V460V) mutations, the latter three lesions composing the rare GBA pseudogene-derived RecNcil allele. Genetic testing misdiagnosed the asymptomatic Proband as affected with Type 1 Gaucher disease; however, molecular studies revealed a novel allele with the two common GBA mutations on the RecNcil background. This allele presumably arose by crossing-over between a c.1226A>G allele and the pseudogene, gene conversion, or a new c.1226A>G mutation on the RecNcil background. This novel complex allele highlights a limitation of carrier screening for GD." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 31 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n who had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n prenatal carrier screening\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ashkenazi Jewish (AJ) genetic diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n and was found to have \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n two acid ß-glucosidase (GBA) mutations, c.1226A&gt;G(p.N370S) and c.1448T&gt;C(p.L444P)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, consistent with the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 1 Gaucher disease (GD1)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. This genotype typically manifests in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n late-adolescence\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early-onset bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Proband\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n normal physical examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no organomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n normal blood counts, skeletal survey, and bone density\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Leukocyte acid ß-glucosidase and plasma chitotriosidase activities were normal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. To investigate these unexpected results, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GBA alleles were RT-PCR amplified and sequenced\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. Five \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n RT-PCR clones\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n negative for both mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, while five clones had the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n c.1226A&gt;G(p.N370S) and c.1448T&gt;C(p.L444P) mutations, along with c.1483G&gt;C(p.A456P), and c.1497G&gt;C(p.V460V) mutations, the latter three lesions composing the rare GBA pseudogene-derived RecNcil allele\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic testing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n misdiagnosed the asymptomatic Proband as affected with Type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n; however, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n molecular studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel allele with the two common GBA mutations on the RecNcil background\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. This allele presumably arose by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n crossing-over between a c.1226A&gt;G allele and the pseudogene, gene conversion, or a new c.1226A&gt;G mutation on the RecNcil background\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. This \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel complex allele\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n highlights a limitation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n carrier screening\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Type 1 Gaucher disease (GD1)", "GD" ]

[ "two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P)", "c.1226A>G(p.N370S) and c.1448T>C(p.L444P) mutations, along with c.1483G>C(p.A456P), and c.1497G>C(p.V460V) mutations, the latter three lesions composing the rare GBA pseudogene-derived RecNcil allele", "novel allele with the two common GBA mutations on the RecNcil background", "crossing-over between a c.1226A>G allele and the pseudogene, gene conversion, or a new c.1226A>G mutation on the RecNcil background", "novel complex allele" ]

[ "hepatosplenomegaly", "early-onset bone involvement" ]

[ "Ashkenazi Jewish (AJ) genetic diseases" ]

[ "normal physical examination", "no organomegaly", "normal blood counts, skeletal survey, and bone density", "Leukocyte acid ß-glucosidase and plasma chitotriosidase activities were normal", "negative for both mutations", "misdiagnosed the asymptomatic Proband as affected with Type 1 Gaucher disease" ]

[ "Gaucher's disease (GD) is the most common of the lysosomal storage diseases (LSDs) that have been defined so far. Its incidence rate is quite low, but its organ involvement profile is disrupting as it results in a considerable morbidity and mortality rate, as well as in high health care costs and poor quality of life. It is a recessive and autosomal genetic disease associated with the insufficiency of the enzyme glucocerebrosidase. The storage of the substrate produces considerable organ deterioration in the skeleton, liver, kidneys, lungs, spleen, brain and bone marrow. This report presents several clinical cases of Mexican patients characterized by bone damage with the purpose of disseminating among orthopedic surgeons the typical findings and course of the disease. The particularities of the patients are discussed, as well as their response to enzyme replacement therapy (ERT) and the results of their clinical follow-up with the latest therapeutic resources." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most common of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage diseases (LSDs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that have been defined so far. Its incidence rate is quite low, but its \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n organ involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n profile is disrupting as it results in a considerable morbidity and mortality rate, as well as in high health care costs and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n poor quality of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. It is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recessive and autosomal genetic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n associated with the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n insufficiency of the enzyme glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n storage of the substrate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n produces \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n considerable organ deterioration in the skeleton, liver, kidneys, lungs, spleen, brain and bone marrow\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. This report presents several clinical cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mexican\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n patients characterized by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone damage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with the purpose of disseminating among orthopedic surgeons the typical findings and course of the disease. The particularities of the patients are discussed, as well as their response to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and the results of their clinical follow-up with the latest therapeutic resources.</div>" ]

[ "Gaucher's disease (GD)", "lysosomal storage diseases (LSDs)" ]

[ "recessive and autosomal genetic disease" ]

[ "organ involvement", "poor quality of life", "bone damage" ]

[ "enzyme replacement therapy (ERT)" ]

[ "Mexican" ]

[ "insufficiency of the enzyme glucocerebrosidase" ]

[ "Gaucher disease is the most frequent lysosomal storage disease. It is a progressive chronic disease that can lead to substantial bone and joint damage and hematological cytopenias. This progressive disease severely worsens the patients' quality of life. Over the past 20 years, enzymatic treatment has considerably improved both symptoms and quality of life. Yet, bone and joint damage may be irreversible. This emphasizes the importance of rigorous follow-up so as to begin uninterrupted treatment before lesion onset. The transition from pediatric to adult care is a major concern for chronic patients. This step is often associated with follow-up problems and may lead to disease worsening. We present three cases of patients who were lost to follow-up during the transition phase. For all 3 patients, the disease notably worsened because follow-up was interrupted during this period." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most frequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. It is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive chronic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that can lead to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n substantial bone and joint damage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematological cytopenias\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. This \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n severely worsens the patients' quality of life. Over the past 20 years, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzymatic treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n has considerably improved both symptoms and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n quality of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Yet, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone and joint damage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n may be irreversible. This emphasizes the importance of rigorous follow-up so as to begin \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n uninterrupted treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n before lesion onset. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transition from pediatric to adult care\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is a major concern for chronic patients. This step is often associated with follow-up problems and may lead to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n disease worsening\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We present three cases of patients who were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lost to follow-up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n during the transition phase. For all 3 patients, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n disease notably worsened\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n because \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n follow-up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was interrupted during this period.</div>" ]

[ "Gaucher disease", "lysosomal storage disease", "progressive chronic disease", "progressive disease" ]

[ "substantial bone and joint damage", "quality of life", "bone and joint damage", "disease worsening", "disease notably worsened" ]

[ "enzymatic treatment", "uninterrupted treatment", "transition from pediatric to adult care", "follow-up" ]

[ "hematological cytopenias" ]

[ "lost to follow-up" ]

[ "Gaucher disease (GD) is characterized by reduced activity of glucocerebrosidase leading to complications in the reticuloendothelial system. N396T, a rarer mutation of the glucocerebrosidase gene, has been encountered in Portuguese populations and has generally been associated with milder phenotypes. This report presents brief histories of two Portuguese sisters, both with homozygous N396T mutations. These patients are phenotypically very different despite the fact that in both patients residual enzyme activity is very low. The case of patient 1 is complicated by comorbid diabetes mellitus and human immunodeficiency virus (HIV) infection. Enzyme replacement therapy (ERT) improved this patient's clinical picture sufficiently to enable antiretroviral treatment to proceed for the HIV. This report demonstrates the poor correlation of clinical GD with genotype as well as with residual enzyme activity. It further illustrates how treatment of the underlying GD with ERT improved symptoms allowing for antiretroviral therapy thereby improving both the GD and HIV." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is characterized by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n reduced activity of glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n leading to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complications in the reticuloendothelial system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n N396T, a rarer mutation of the glucocerebrosidase gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, has been encountered in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Portuguese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n populations and has generally been associated with milder phenotypes. This report presents brief histories of two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Portuguese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sisters, both with homozygous N396T mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n. These patients are phenotypically very different despite the fact that in both patients \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n residual enzyme activity is very low\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The case of patient 1 is complicated by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n comorbid diabetes mellitus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n human immunodeficiency virus (HIV) infection\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n improved this patient's clinical picture sufficiently to enable \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n antiretroviral treatment to proceed for the HIV\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. This report demonstrates the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n poor correlation of clinical GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n with genotype as well as with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n residual enzyme activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. It further illustrates how treatment of the underlying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n improved symptoms allowing for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n antiretroviral therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n thereby improving both the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HIV\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "comorbid diabetes mellitus", "human immunodeficiency virus (HIV) infection", "GD", "GD", "HIV" ]

[ "N396T, a rarer mutation of the glucocerebrosidase gene" ]

[ "complications in the reticuloendothelial system" ]

[ "Enzyme replacement therapy (ERT)", "antiretroviral treatment to proceed for the HIV", "ERT", "antiretroviral therapy" ]

[ "Portuguese", "Portuguese" ]

[ "reduced activity of glucocerebrosidase", "residual enzyme activity is very low" ]

[ "poor correlation of clinical GD", "residual enzyme activity" ]

[ "A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozygous status for L444P (c.1448C) in the proband, whereas parents and two elder sisters were found to be heterozygote. Prenatal study during the fourth pregnancy was carried out from cultured chorionic villi for β-glucosidase, which was in the carrier range. Further confirmation of the carrier status was carried out from amniotic fluid DNA and was found to be heterozygous for L444P (c.1448C) in the GBA gene. This case demonstrates that children with the sign of splenomegaly with anemia and thrombocytopenia need to be screened for Gaucher disease, and molecular study can further help to confirm the heterozygous status, where prenatal study by enzyme investigation demonstrate heterozygous condition." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 15-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n born to the consanguineous parents\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, was referred with the sign of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Plasma Chitotriosidase estimation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n was carried out as a screening test and was found to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n be normal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n reduced activity of β-glucosidase in leucocytes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n suggestive of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. At the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 4 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe osteoporosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pulmonary congestion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were observed in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Molecular analysis for GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n has revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous status for L444P (c.1448C) in the proband\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n whereas parents and two elder sisters were found to be heterozygote\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Prenatal study during the fourth pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n was carried out from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cultured chorionic villi for β-glucosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, which was in the carrier range. Further confirmation of the carrier status was carried out from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n amniotic fluid DNA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and was found to be \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous for L444P (c.1448C) in the GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. This case demonstrates that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with the sign of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n need to be screened for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n molecular study\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n can further help to confirm the heterozygous status, where \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n prenatal study by enzyme investigation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n demonstrate \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous condition\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease" ]

[ "homozygous status for L444P (c.1448C) in the proband", "heterozygous for L444P (c.1448C) in the GBA gene", "heterozygous condition" ]

[ "massive splenomegaly", "severe osteoporosis", "cardiomegaly", "pulmonary congestion", "splenomegaly" ]

[ "thrombocytopenia", "anemia", "reduced activity of β-glucosidase in leucocytes", "anemia", "thrombocytopenia" ]

[ "Plasma Chitotriosidase estimation", "be normal" ]

[ "Among lysosomal storage diseases, Gaucher disease depicts the highest rate of incidence, according with the international epidemiological reports. Gaucher disease is due to an impairing of the acid beta-glucosidase enzyme, since its lack promotes accumulation of the sphingolipid glucosylceramide at macrophages, leading to heterogeneous multiorganic damage (visceral, skeletal, and central nervous system affectation). This paper portrays a series of clinical cases of Gaucher disease with patients treated at the same city (Monterrey, Nuevo León), at the Paediatric Haematology Department of the Specialties General Hospital, UMAE 25, in Monterrey of the Instituto Mexicano del Seguro Social. Gaucher disease is symptomatic since early childhood in a good proportion of patients. The patients in this serie was treated with enzyme replacement therapy, and share the typical overall features of the disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Among \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n depicts the highest rate of incidence, according with the international epidemiological reports. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is due to an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n impairing of the acid beta-glucosidase enzyme\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, since its \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lack\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n promotes \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n accumulation of the sphingolipid glucosylceramide at macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, leading to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterogeneous multiorganic damage (visceral, skeletal, and central nervous system affectation)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. This paper portrays a series of clinical cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with patients treated at the same city (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Monterrey\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Nuevo León\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n), at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Paediatric Haematology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n Department of the Specialties General Hospital, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n UMAE 25\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Monterrey\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Instituto Mexicano del Seguro Social\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is symptomatic \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n since early childhood\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n in a good proportion of patients. The patients in this serie was treated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, and share the typical overall features of the disease.</div>" ]

[ "lysosomal storage diseases", "Gaucher disease", "Gaucher disease", "Gaucher disease", "Gaucher disease" ]

[ "heterogeneous multiorganic damage (visceral, skeletal, and central nervous system affectation)" ]

[ "UMAE 25", "enzyme replacement therapy" ]

[ "Monterrey", "Nuevo León", "Monterrey", "Instituto Mexicano del Seguro Social" ]

[ "impairing of the acid beta-glucosidase enzyme", "lack" ]

[ "Enzyme replacement therapy (ERT) with imiglucerase is a well-established, effective treatment for Gaucher disease. However, there have been no published reports regarding the excretion of imiglucerase into human breast milk and its effects on the nursing infant.", "This letter reports on the successful pregnancy and lactation of a patient with Gaucher disease receiving treatment with imiglucerase, and the subsequent distribution and excretion of imiglucerase in human breast milk.", "A 39-year-old Japanese female (height, 164 cm; weight, 55 kg) with Gaucher disease had 2 successful pregnancies and continued ERT through both. The study was conducted 6 months after the first delivery. She was administered a 1-hour infusion of imiglucerase 60 U/kg that coincided with her regular every-2-week regimen. Serum and breast-milk samples were obtained before and up to 24 hours after administration. Breast-milk samples were also obtained from 10 nursing mothers with galactorrhea as controls.", "The preinfusion level of breast-milk β-glucocerebrosidase was 0.008 nmol/h/mL. The peak of serum β-glucocerebrosidase activity (0.119 nmol/h/mL) was obtained at the end of the 1-hour infusion period. Slightly increased enzymatic activity (0.016 nmol/h/mL) was observed in the first breast milk sampled after imiglucerase infusion.", "We report a case of successful pregnancy and breastfeeding in a Japanese patient with Gaucher disease. A small amount of imiglucerase was found to be excreted into human breast milk, but only in the first milk produced after infusion." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT) with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is a well-established, effective treatment for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. However, there have been no published reports regarding the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n excretion of imiglucerase into human breast milk\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and its effects on the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nursing infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This letter reports on the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n successful pregnancy and lactation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n receiving \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treatment with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, and the subsequent distribution and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n excretion of imiglucerase in human breast milk\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 39-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n (height, 164 cm; weight, 55 kg) with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2 successful pregnancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n continued ERT through both\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The study was conducted 6 months after the first delivery. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n administered a 1-hour infusion of imiglucerase 60 U/kg that coincided with her regular every-2-week regimen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Serum and breast-milk samples were obtained before and up to 24 hours after administration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Breast-milk samples\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n were also obtained from 10 nursing mothers with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n galactorrhea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n as controls.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The preinfusion level of breast-milk β-glucocerebrosidase was 0.008 nmol/h/mL. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n peak of serum β-glucocerebrosidase activity (0.119 nmol/h/mL)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n was obtained at the end of the 1-hour infusion period. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Slightly increased enzymatic activity (0.016 nmol/h/mL) was observed in the first breast milk sampled after imiglucerase infusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n successful pregnancy and breastfeeding\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n small amount of imiglucerase was found to be excreted into human breast milk, but only in the first milk produced after infusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease", "Gaucher disease", "Gaucher disease" ]

[ "Enzyme replacement therapy (ERT) with imiglucerase", "successful pregnancy and lactation", "treatment with imiglucerase", "2 successful pregnancies", "continued ERT through both", "administered a 1-hour infusion of imiglucerase 60 U/kg that coincided with her regular every-2-week regimen", "successful pregnancy and breastfeeding" ]

[ "Japanese", "Japanese" ]

[ "excretion of imiglucerase into human breast milk", "peak of serum β-glucocerebrosidase activity (0.119 nmol/h/mL)", "Slightly increased enzymatic activity (0.016 nmol/h/mL) was observed in the first breast milk sampled after imiglucerase infusion" ]

[ "galactorrhea" ]

[ "Foamy transformation of macrophages is typically seen in lysosomal storage disorders in patients with Niemann-Pick disease, but foamy Gaucher cells (GC) were previously reported only once, in the autopsy report. Although the majority of stored glucocerebroside in GC is of erythrocyte origin, apparent erythrophagocytosis by GC in bone marrow is an unusual finding. Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. Approximately 15% of his GC showed a notable erythrophagocytic activity or unusual appearance of foamy transformed macrophages with a great number of vacuoles and erythrocyte rests in the cytoplasm. This report highlights the fact that morphological examination of cells and tissue specimens is very helpful in the diagnosis of a storage disorder but that confirmatory testing for specific diseases should always follow. Moreover, it is now clear that Gaucher disease should be a part of the differential diagnosis of foamy transformed macrophages." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Foamy transformation of macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n is typically seen in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Niemann-Pick disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n foamy Gaucher cells (GC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n were previously reported only once, in the autopsy report. Although the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n majority of stored glucocerebroside in GC is of erythrocyte origin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n apparent erythrophagocytosis by GC in bone marrow\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n is an unusual finding. Here, we describe the case of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-Jewish Caucasian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous Gaucher disease type 1 (mutations c.1226A&gt;G and c.1448T&gt;C in the GBA1 gene)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n who presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n atypical morphology of GC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Approximately 15% of his GC showed a notable erythrophagocytic activity or unusual appearance of foamy transformed macrophages with a great number of vacuoles and erythrocyte rests in the cytoplasm\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. This report highlights the fact that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n morphological examination of cells and tissue specimens\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n is very helpful in the diagnosis of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n but that confirmatory testing for specific diseases should always follow. Moreover, it is now clear that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n should be a part of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n foamy transformed macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>" ]

[ "lysosomal storage disorders", "Niemann-Pick disease", "storage disorder", "Gaucher disease" ]

[ "heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene)" ]

[ "non-Jewish Caucasian" ]

[ "Gaucher disease (GD) is a rare autosomal recessive disorder caused mainly by mutations in the glucocerebrosidase (GBA) gene. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, such as polymorphic variants, might influence GD phenotypes. We previously reported the c.(-203)A>G (g.1256A>G) variant in exon 1 of the GBA gene in Spanish GD patients.", "We analyzed the frequency and transcriptional activity of the promoter carrying the G-allele using restriction isotyping, electrophoretic mobility shift assay, cell culture, transfection, and luciferase assays.", "We found the variant is present at a similar frequency to the control group. In our patients, the G-allele was always found in combination with another mutation in the same allele, and patients carrying the c.(-203)A>G variant showed a more severe GD phenotype. The promoter containing the G-allele showed a 35% reduction in promoter activity when transfected into HepG2 cells.", "The c.(-203)A>G variant seems to be a polymorphism resulting in a decrease in activity of the GBA promoter. The change, per se, is not enough to elicit a GD phenotype, but it may produce a more severe phenotype in GD patients when combined with an already defective GBA protein." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare autosomal recessive disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n caused mainly by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in the glucocerebrosidase (GBA) gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, such as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n polymorphic variants\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, might influence \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n phenotypes. We previously reported the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n c.(-203)A&gt;G (g.1256A&gt;G) variant in exon 1 of the GBA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Spanish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We analyzed the frequency and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transcriptional activity of the promoter carrying the G-allele\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n using \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n restriction isotyping\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electrophoretic mobility shift assay\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cell culture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transfection\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n luciferase assays\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We found the variant is present at a similar frequency to the control group. In our patients, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the G-allele was always found in combination with another mutation in the same allele\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, and patients carrying the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n c.(-203)A&gt;G variant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n showed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n more severe GD phenotype\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n promoter containing the G-allele showed a 35% reduction in promoter activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n when transfected into \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HepG2 cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n The c.(-203)A&gt;G variant seems to be a polymorphism resulting in a decrease in activity of the GBA promoter\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. The change, per se, is not enough to elicit a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n phenotype, but it may produce a more severe phenotype in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients when combined with an already \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n defective GBA protein\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "GD", "GD", "GD", "GD" ]

[ "rare autosomal recessive disorder", "mutations in the glucocerebrosidase (GBA) gene", "polymorphic variants", "c.(-203)A>G (g.1256A>G) variant in exon 1 of the GBA gene", "transcriptional activity of the promoter carrying the G-allele", "the G-allele was always found in combination with another mutation in the same allele", "c.(-203)A>G variant", "promoter containing the G-allele showed a 35% reduction in promoter activity", "The c.(-203)A>G variant seems to be a polymorphism resulting in a decrease in activity of the GBA promoter" ]

[ "more severe GD phenotype" ]

[ "Spanish" ]

[ "defective GBA protein" ]

[ "We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1 diabetes mellitus. The concurrence of a mild Gaucher mutation with a severe phenotype, as well as the occurrence of highly discordant phenotypes in a pair of monozygotic twins, is discussed." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n monozygotic twin sisters, born to consanguineous Moroccan parents\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n who are highly discordant for the manifestations of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n. Both carry Gaucher genotype N188S/N188S. One has \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe visceral involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cerebellar syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n twin does not manifest any symptoms or signs of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n but suffers from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 diabetes mellitus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n concurrence of a mild Gaucher mutation with a severe phenotype\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, as well as the occurrence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n highly discordant phenotypes in a pair of monozygotic twins\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, is discussed.</div>" ]

[ "type 1 diabetes mellitus" ]

[ "severe visceral involvement", "epilepsy", "cerebellar syndrome" ]

[ "Although a large portion of the capitate is supplied by a single nutrient vessel, avascular necrosis of the capitatum is a rare condition. Its etiology is not clear, but a number of factors are linked to its pathogenesis including: repetitive trauma, dorsal instability of the carpus, Gaucher disease, systemic lupus erythematosus, gout, and steroid use. A 24-year-old woman presented with right wrist pain of 12 months duration. She reported no major trauma and reported that her pain had begun during the third month of her pregnancy. She had a history of hyperemesis gravidarum treated with 2 to 4 mg/daily of prednisone during her pregnancy for 6 weeks. She had 70° extension and 45° flexion of her wrist. Radiographs showed a hypodense area at the capitate head and midcarpal joint arthritis. Magnetic resonance imaging demonstrated avascular necrosis of the capitate and midcarpal collapse at the lunocapitate joint. Lunocapitate fusion with a partial scaphoidectomy was performed. At final follow-up 28 months postoperatively, she had 60° of volar flexion, and 50° of dorsiflexion. She was pain free in the majority of her activities of daily living. A small dose of steroid use during pregnancy, even in a short period of time, is a potential risk for avascular necrosis of the capitate and patients with a gradual onset of wrist pain during pregnancy may need to be investigated further if symptoms are not resolved with basic nonoperative measures within a reasonable time frame." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although a large portion \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of the capitate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is supplied by a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n single nutrient vessel\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis of the capitatum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a rare condition. Its etiology is not clear, but a number of factors are linked to its pathogenesis including: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n repetitive trauma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dorsal instability of the carpus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systemic lupus erythematosus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gout\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n steroid use\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 24-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n right wrist pain of 12 months duration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n reported \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no major trauma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n and reported that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n pain had begun during the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n third month of her pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had a history of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hyperemesis gravidarum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treated with 2 to 4 mg/daily of prednisone during her pregnancy for 6 weeks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 70° extension and 45° flexion of her wrist\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Radiographs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypodense area at the capitate head\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n midcarpal joint arthritis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Magnetic resonance imaging\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n demonstrated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis of the capitate and midcarpal collapse at the lunocapitate joint\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lunocapitate fusion with a partial scaphoidectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was performed. At \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n final follow-up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n 28 months postoperatively, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 60° of volar flexion, and 50° of dorsiflexion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pain free in the majority of her activities of daily living\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n small dose of steroid use\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, even in a short period of time, is a potential risk for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis of the capitate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and patients with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gradual onset of wrist pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n may need to be investigated further if \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptoms are not resolved with basic nonoperative measures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n within a reasonable time frame.</div>" ]

[ "avascular necrosis of the capitatum", "Gaucher disease", "systemic lupus erythematosus", "gout", "hyperemesis gravidarum", "pregnancy", "avascular necrosis of the capitate", "pregnancy" ]

[ "of the capitate", "single nutrient vessel", "repetitive trauma", "dorsal instability of the carpus", "right wrist pain of 12 months duration", "70° extension and 45° flexion of her wrist", "hypodense area at the capitate head", "midcarpal joint arthritis", "avascular necrosis of the capitate and midcarpal collapse at the lunocapitate joint", "60° of volar flexion, and 50° of dorsiflexion", "gradual onset of wrist pain" ]

[ "steroid use", "treated with 2 to 4 mg/daily of prednisone during her pregnancy for 6 weeks", "Lunocapitate fusion with a partial scaphoidectomy", "small dose of steroid use" ]

[ "no major trauma", "pain free in the majority of her activities of daily living", "symptoms are not resolved with basic nonoperative measures" ]

[ "Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase. More than 300 mutations in the GBA1 gene have been described. However only one large deletion of the GBA1 gene has been reported to date. Here, using a combination of different experimental approaches including PCR, sequencing and Southern blot analysis, we describe the identification and characterization of a new large deletion of the GBA1 gene due to an inter Alu recombination event." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most frequent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n due to the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of acid β-glucosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. More than 300 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in the GBA1 gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n have been described. However only one \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n large deletion of the GBA1 gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n has been reported to date. Here, using a combination of different experimental approaches including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n PCR, sequencing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Southern blot analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, we describe the identification and characterization of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new large deletion of the GBA1 gene due to an inter Alu recombination event\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "lysosomal storage disorder" ]

[ "autosomal recessive", "mutations in the GBA1 gene", "large deletion of the GBA1 gene", "new large deletion of the GBA1 gene due to an inter Alu recombination event" ]

[ "deficiency of acid β-glucosidase" ]

[ "To report significant surgical results in an uncommon ophthalmologic complication of a rare disease.", "Interventional case report.", "A 16-year-old girl with type III Gaucher disease experienced visual loss in both eyes. Ophthalmologic examination revealed dense whitish vitreous opacities and macular pucker OU. Visual acuity (VA) OD was 20/63 and OS was 20/25. She underwent 25-gauge vitrectomy with removal of the vitreous core, posterior vitreous cortex, and indocyanine green?stained internal limiting membrane OD. Visual acuity improved, reaching 20/25 1 year after surgery despite the appearance of small preretinal flecks. Visual acuity OS decreased some time later and vitrectomy was performed when VA OS was 20/100. Three years after surgery, BCVA was 20/25 OD and 20/20 OS 1 year after surgery.", "We describe a young patient with Gaucher disease with severe bilateral vitreous opacities and macular pucker. After surgery, vitreous opacities partially and progressively recurred, but the overall favorable outcome strongly supports a surgical approach in cases of this kind." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report significant surgical results in an uncommon \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ophthalmologic complication\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Interventional case report\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 16-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type III Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n experienced \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n visual loss in both eyes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ophthalmologic examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dense whitish vitreous opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n macular pucker OU\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Visual acuity (VA) OD was 20/63 and OS was 20/25\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 25-gauge vitrectomy with removal of the vitreous core, posterior vitreous cortex, and indocyanine green?stained internal limiting membrane OD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Visual acuity improved, reaching 20/25\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n 1 year after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n despite the appearance of small preretinal flecks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Visual acuity OS decreased\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n some time later and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n vitrectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was performed when \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n VA OS was 20/100\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Three years after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n BCVA was 20/25 OD and 20/20 OS\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n 1 year after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe bilateral vitreous opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n macular pucker\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n vitreous opacities partially and progressively recurred\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, but the overall favorable outcome strongly supports a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgical approach\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in cases of this kind.</div>" ]

[ "rare disease", "type III Gaucher disease", "Gaucher disease" ]

[ "ophthalmologic complication", "visual loss in both eyes", "dense whitish vitreous opacities", "macular pucker OU", "Visual acuity (VA) OD was 20/63 and OS was 20/25", "Visual acuity improved, reaching 20/25", "Visual acuity OS decreased", "VA OS was 20/100", "BCVA was 20/25 OD and 20/20 OS", "severe bilateral vitreous opacities", "macular pucker", "vitreous opacities partially and progressively recurred" ]

[ "Interventional case report", "25-gauge vitrectomy with removal of the vitreous core, posterior vitreous cortex, and indocyanine green?stained internal limiting membrane OD", "surgery", "vitrectomy", "surgery", "surgery", "surgery", "surgical approach" ]

[ "despite the appearance of small preretinal flecks" ]

[ "Gaucher disease is an autosomal recessive disorder resulting from deficient activity of the lysosomal enzyme glucocerebrosidase (GBA, E.C.3.2.1.45). Three clinical forms of Gaucher disease have been described: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (OMIM 230800, 230900, 231000). Over the past decade, recognition of a distinct, perinatal lethal form of Gaucher disease (PLGD) has led researchers and clinicians to evaluate Gaucher disease in the differential diagnosis of congenital ichthyosis and nonimmune hydrops fetalis. To date, more than 30 cases of PLGD have been genotyped and reported. It has been observed that homozygosity for recombinant GBA alleles, which are fundamentally null alleles, leads to early lethality, usually in utero or during the 1st few days of life, whereas genotypes involving a recombinant allele and a missense mutation may be less detrimental. Here, we report a case of Gaucher disease with prenatal onset and death within hours of birth, likely due to compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation. In view of the patient's severe clinical course, and based on reviews of other PLGD cases, we postulate that a missense mutation that abruptly disrupts the structure/function of GBA, in combination with a null allele, may result in early lethality in patients with PLGD. We also speculate that R131C is an extremely severe mutation that has occurred more than once in different populations and, in either the homozygous form or heterozygous with another severe mutation, will result in a poor prognosis." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n resulting from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficient activity of the lysosomal enzyme glucocerebrosidase (GBA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, E.C.3.2.1.45). Three clinical forms of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n have been described: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1, nonneuronopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n; \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2, acute neuronopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n; and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 3, subacute neuronopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n OMIM 230800\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, 230900, 231000). Over the past decade, recognition of a distinct, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n perinatal lethal form of Gaucher disease (PLGD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has led researchers and clinicians to evaluate \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n congenital ichthyosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nonimmune hydrops fetalis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. To date, more than 30 cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n PLGD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n have been genotyped and reported. It has been observed that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygosity for recombinant GBA alleles, which are fundamentally null alleles\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, leads to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early lethality\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, usually \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in utero or during the 1st few days of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, whereas \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genotypes involving a recombinant allele and a missense mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n may be less detrimental. Here, we report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n prenatal onset\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n within hours of birth\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, likely due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. In view of the patient's severe clinical course, and based on reviews of other \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n PLGD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n cases, we postulate that a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n missense mutation that abruptly disrupts the structure/function of GBA, in combination with a null allele\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, may result in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early lethality\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n PLGD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We also speculate that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n R131C\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extremely severe mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n that has occurred more than once in different populations and, in either the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous form or heterozygous with another severe mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, will result in a poor prognosis.</div>" ]

[ "Gaucher disease", "Gaucher disease", "type 1, nonneuronopathic", "type 2, acute neuronopathic", "type 3, subacute neuronopathic", "perinatal lethal form of Gaucher disease (PLGD)", "Gaucher disease", "congenital ichthyosis", "nonimmune hydrops fetalis", "PLGD", "Gaucher disease", "PLGD", "PLGD" ]

[ "autosomal recessive disorder", "OMIM 230800", "homozygosity for recombinant GBA alleles, which are fundamentally null alleles", "genotypes involving a recombinant allele and a missense mutation", "compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation", "missense mutation that abruptly disrupts the structure/function of GBA, in combination with a null allele", "R131C", "extremely severe mutation", "homozygous form or heterozygous with another severe mutation" ]

[ "early lethality", "prenatal onset", "death", "early lethality" ]

[ "deficient activity of the lysosomal enzyme glucocerebrosidase (GBA" ]

[ "Perinatal Lethal Gaucher Disease (PLGD) is a rare form of Gaucher disease and is often considered a distinct form of type 2 Gaucher disease. The authors report on an infant who presented with progressive hepatosplenomegaly, ichthyosis, generalized skin edema and neonatal encephalopathy and died at 6 h of age. Autopsy revealed massive hepatosplenomegaly, ichthyosis, a diffuse collodion picture and histological evidence of infiltration by Gaucher cells in the liver, spleen, lung, thymus, lymph node and bone marrow. Genetic testing of the parents revealed both to be carriers of Gaucher disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Perinatal Lethal Gaucher Disease (PLGD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare form of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and is often considered a distinct form of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The authors report on an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n who presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ichthyosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n generalized skin edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neonatal encephalopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n died\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n at 6 h of age\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Autopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ichthyosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diffuse collodion picture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n histological evidence of infiltration by Gaucher cells in the liver, spleen, lung, thymus, lymph node and bone marrow\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic testing of the parents revealed both to be carriers of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n.</div>" ]

[ "Perinatal Lethal Gaucher Disease (PLGD)", "rare form of Gaucher disease", "type 2 Gaucher disease" ]

[ "progressive hepatosplenomegaly", "ichthyosis", "generalized skin edema", "neonatal encephalopathy", "died", "massive hepatosplenomegaly", "ichthyosis", "diffuse collodion picture" ]

[ "Niemann-Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. Decreased activity of acid β-glucosidase and elevated serum chitotriosidase and tartrate-resistant acid phosphatase on repeated measurements led to initial diagnosis of Gaucher disease (GD). Failure to respond to enzyme replacement therapy after one year, however, put the diagnosis in question. Cholesterol esterification assays in cultured skin fibroblasts and NPC gene analysis led to the correct diagnosis of NPC. The patient had markedly reduced cholesterol esterification and was a compound heterozygote for a known and a novel mutation in the NPC gene (395delC and 2068insTCCC), which are both predicted to lead to protein truncation. Although the full phenotype of NPC involves hepatosplenomegaly and neurodegenerative disease, the initial presentation in a pediatric patient may be restricted to visceral disease. Of interest, this patient had decreased activity of leukocyte acid β-glucosidase activity and elevated serum chitotriosidase to levels often seen in GD. Although acid β-glucosidase activity in leukocytes was low, it was in the normal range in skin fibroblasts. Therefore, diagnostic delay may occur in NPC due to false positive testing for GD. Diagnosis of NPC requires a high index of suspicion and should be considered in a patient with hepatosplenomegaly even in the absence of neurodevelopmental signs. Prompt diagnosis will become increasingly important as effective therapies are developed for NPC." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Niemann-Pick disease type C (NPC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a model for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inborn errors of metabolism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lipidoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We report the case of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n who presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without neurological abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Decreased activity of acid β-glucosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n elevated serum chitotriosidase and tartrate-resistant acid phosphatase on repeated measurements\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n led to initial diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Failure to respond to enzyme replacement therapy after one year\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, however, put the diagnosis in question. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cholesterol esterification assays in cultured skin fibroblasts\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NPC gene analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n led to the correct diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NPC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The patient had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n markedly reduced cholesterol esterification\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and was a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n compound heterozygote for a known and a novel mutation in the NPC gene (395delC and 2068insTCCC), which are both predicted to lead to protein truncation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Although the full phenotype of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NPC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n involves \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurodegenerative disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, the initial presentation in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patient may be restricted to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n visceral disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Of interest, this patient had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n decreased activity of leukocyte acid β-glucosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n elevated serum chitotriosidase to levels often seen in GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. Although \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acid β-glucosidase activity in leukocytes was low\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n , it was in the normal range in skin fibroblasts\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Therefore, diagnostic delay may occur in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NPC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n false positive testing for GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NPC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n requires a high index of suspicion and should be considered in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n even in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n absence of neurodevelopmental signs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Prompt diagnosis will become increasingly important as effective therapies are developed for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n NPC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Niemann-Pick disease type C (NPC)", "lipidoses", "Gaucher disease (GD)", "NPC", "NPC", "visceral disease", "NPC", "NPC", "NPC" ]

[ "inborn errors of metabolism", "compound heterozygote for a known and a novel mutation in the NPC gene (395delC and 2068insTCCC), which are both predicted to lead to protein truncation" ]

[ "hepatosplenomegaly", "hepatosplenomegaly", "neurodegenerative disease", "hepatosplenomegaly" ]

[ "Decreased activity of acid β-glucosidase", "elevated serum chitotriosidase and tartrate-resistant acid phosphatase on repeated measurements", "decreased activity of leukocyte acid β-glucosidase activity", "elevated serum chitotriosidase to levels often seen in GD", "acid β-glucosidase activity in leukocytes was low" ]

[ "without neurological abnormalities", "Failure to respond to enzyme replacement therapy after one year", ", it was in the normal range in skin fibroblasts", "false positive testing for GD", "absence of neurodevelopmental signs" ]

[ "Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the first few months of life. Traditionally, type 2 GD was considered to have the most uniform clinical phenotype when compared to other GD subtypes. However, case studies over time have demonstrated that type 2 GD, like types 1 and 3, manifests with a spectrum of phenotypes. This review includes case reports that illustrate the broad range of clinical presentations encountered in type 2 GD, as well as a discussion of associated manifestations, pathological findings, diagnostic techniques, and a review of current therapies. While type 2 GD is generally associated with severe mutations in the glucocerebrosidase gene, there is also significant genotypic heterogeneity." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, the most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, results from a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of the lysosomal enzyme glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has been classified into 3 types, of which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 (the acute neuronopathic form)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most severe, presenting \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pre- or perinatally\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in the first few months of life\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. Traditionally, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was considered to have the most uniform clinical phenotype when compared to other \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD subtypes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. However, case studies over time have demonstrated that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, like \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n types 1 and 3\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, manifests with a spectrum of phenotypes. This review includes case reports that illustrate the broad range of clinical presentations encountered in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, as well as a discussion of associated manifestations, pathological findings, diagnostic techniques, and a review of current therapies. While \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is generally associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe mutations in the glucocerebrosidase gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, there is also significant genotypic heterogeneity.</div>" ]

[ "Gaucher disease (GD)", "lysosomal storage disease", "GD", "type 2 (the acute neuronopathic form)", "type 2 GD", "GD subtypes", "type 2 GD", "types 1 and 3", "type 2 GD", "type 2 GD" ]

[ "severe mutations in the glucocerebrosidase gene" ]

[ "deficiency of the lysosomal enzyme glucocerebrosidase" ]

[ "Gaucher type 1 disease has a wide spectrum of phenotypes ranging from asymptomatic individuals to patients with massive hepatosplenomegaly and bone involvement. In most, anemia, thrombocytopenia and splenomegaly are the primary manifestations at diagnosis, findings shared by the hemoglobinopathies. Here we report the co-inheritance of α-thalassemia and Gaucher disease in a consanguineous family followed in Iran, which resulted in confusion regarding the diagnosis. This report emphasizes the need to independently establish the diagnosis of every affected member of a family to ensure appropriate management and therapeutic decisions." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher type 1 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has a wide spectrum of phenotypes ranging from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n asymptomatic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n individuals to patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. In most, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are the primary manifestations at diagnosis, findings shared by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hemoglobinopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Here we report the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n co-inheritance of α-thalassemia and Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n consanguineous family followed\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Iran\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n, which resulted in confusion regarding the diagnosis. This report emphasizes the need to independently establish the diagnosis of every affected member of a family to ensure appropriate management and therapeutic decisions.</div>" ]

[ "Gaucher type 1 disease", "hemoglobinopathies" ]

[ "massive hepatosplenomegaly", "bone involvement", "splenomegaly" ]

[ "Iran" ]

[ "anemia", "thrombocytopenia" ]

[ "asymptomatic" ]

[ "The patient is a 13-year-old Mexican-American immigrant who had no previous medical care. Upon arrival to the United States she was diagnosed with severe mitral valve stenosis and regurgitation. In addition she had severe aortic stenosis with mild to moderate aortic valve regurgitation, which was thought to be rheumatic heart disease. On the basis of the clinical and echocardiographic findings she was taken to the operating room for both mitral and aortic valve replacement. Her operation was complicated by the discovery that her aorta was completely calcified, as were her coronary arteries, mitral valve and aortic valve. She underwent aortic and mitral valve replacement as well as replacement of her aortic arch. Her coronary arteries were patch augmented and reimplanted into the newly created ascending aorta. Based on the pathologic examination of the surgical tissue a diagnosis of Gaucher disease was made." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 13-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mexican-American\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immigrant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n who had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no previous medical care\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Upon arrival to the United States \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe mitral valve stenosis and regurgitation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. In addition \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe aortic stenosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild to moderate aortic valve regurgitation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, which was thought to be \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rheumatic heart disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. On the basis of the clinical and echocardiographic findings \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was taken to the operating room for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n both mitral and aortic valve replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n operation was complicated by the discovery that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n her aorta was completely calcified, as were her coronary arteries, mitral valve and aortic valve\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n aortic and mitral valve replacement as well as replacement of her aortic arch\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coronary arteries were patch augmented and reimplanted into the newly created ascending aorta\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Based on the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathologic examination of the surgical tissue\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n a diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was made.</div>" ]

[ "rheumatic heart disease", "Gaucher disease" ]

[ "severe mitral valve stenosis and regurgitation", "severe aortic stenosis", "mild to moderate aortic valve regurgitation", "her aorta was completely calcified, as were her coronary arteries, mitral valve and aortic valve" ]

[ "both mitral and aortic valve replacement", "aortic and mitral valve replacement as well as replacement of her aortic arch", "coronary arteries were patch augmented and reimplanted into the newly created ascending aorta" ]

[ "Mexican-American", "immigrant" ]

[ "no previous medical care" ]

[ "A 2-year-old boy with type 3 Gaucher disease (GD) on treatment with enzyme replacement therapy (ERT) was found dead in bed having been apparently well the night before. At the time of diagnosis, he had significant respiratory symptoms (severe and persistent bouts of coughing) that had been attributed to Gaucher lung infiltration and that were controlled by inhaled and orally administered steroids. These symptoms had begun to reappear just prior to death. Postmortem revealed extensive pulmonary hemorrhage and intra-alveolar collections of Gaucher cells. There was very little evidence of GD elsewhere. Death was ascribed to pulmonary hemorrhage secondary to GD. The pathogenesis was unclear. To the best of our knowledge, this is the first case of isolated pulmonary hemorrhage secondary to GD and may represent a hitherto unrecognized complication of this condition. Given the apparent temporal relationship, we propose that it represented a severe, terminal event in the course of Gaucher lung disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 3 Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treatment with enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was found \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dead in bed having been apparently well\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n the night before. At the time of diagnosis, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n he\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant respiratory symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe and persistent bouts of coughing)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n that had been attributed to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher lung infiltration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and that were controlled by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inhaled and orally administered steroids\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. These symptoms had begun to reappear just prior to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Postmortem\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extensive pulmonary hemorrhage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intra-alveolar collections of Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. There was very \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n little evidence of GD elsewhere\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was ascribed to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pulmonary hemorrhage secondary to GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The pathogenesis was unclear. To the best of our knowledge, this is the first case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n isolated pulmonary hemorrhage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n secondary to GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and may represent a hitherto unrecognized complication of this condition. Given the apparent temporal relationship, we propose that it represented a severe, terminal event in the course of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher lung disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "type 3 Gaucher disease (GD)", "secondary to GD", "Gaucher lung disease" ]

[ "dead in bed having been apparently well", "significant respiratory symptoms", "severe and persistent bouts of coughing)", "death", "extensive pulmonary hemorrhage", "Death", "pulmonary hemorrhage secondary to GD", "isolated pulmonary hemorrhage" ]

[ "treatment with enzyme replacement therapy (ERT)", "inhaled and orally administered steroids" ]

[ "little evidence of GD elsewhere" ]

[ "Skeletal pain and the resulting skeletal complications are common in Gaucher disease. The patients therefore usually receive symptomatic treatment and only rarely undergo additional diagnostic procedures. The paper describes the case of a patient with Gaucher disease who had advancing pain in the right knee and femur, which was first attributed to the basic disease. After a pathological fracture of the painful part of the leg, it became evident that the patient suffered from primary bone angiosarcoma. From this case, we learnt that not every skeletal pain in Gaucher disease represents a skeletal manifestation of this disease. Further surgical treatment was made difficult by the thrombocyte dysfunction discovered in the patient." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Skeletal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and the resulting \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skeletal complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are common in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The patients therefore usually receive \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptomatic treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and only rarely undergo additional diagnostic procedures. The paper describes the case of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n who had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n advancing pain in the right knee and femur\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, which was first attributed to the basic disease. After a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathological fracture of the painful part of the leg\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, it became evident that the patient suffered from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n primary bone angiosarcoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. From this case, we learnt that not every \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skeletal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n represents a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skeletal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n manifestation of this disease. Further \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgical treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was made difficult by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocyte dysfunction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n discovered in the patient.</div>" ]

[ "Gaucher disease", "Gaucher disease", "primary bone angiosarcoma", "Gaucher disease" ]

[ "Skeletal pain", "skeletal complications", "advancing pain in the right knee and femur", "pathological fracture of the painful part of the leg", "skeletal pain", "skeletal" ]

[ "symptomatic treatment", "surgical treatment" ]

[ "thrombocyte dysfunction" ]

[ "Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Enzyme replacement therapy (ERT) has demonstrable efficacy in reversing clinical and pathological manifestations of GD. We report four patients with GD and severe hepatic impairment who were successfully treated by orthotopic liver transplantation. Liver failure resulted from GD in two patients and due to a comorbidity in two others (HCV and autoimmune chronic active hepatitis). Following successful liver transplantation, patients received long-term ERT. Liver transplantation is a life-saving treatment for end-stage liver disease in patients with Gaucher disease. All four patients have had excellent outcomes from liver transplantation for up to 10 years postprocedure with no evidence of Gaucher-related pathology in the graft." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most prevalent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n has demonstrable efficacy in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n reversing clinical and pathological manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We report four patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe hepatic impairment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n who were successfully treated by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n orthotopic liver transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Liver failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n resulted from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in two patients and due to a comorbidity in two others (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HCV and autoimmune chronic active hepatitis)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Following \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n successful liver transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, patients received \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n long-term ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Liver transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n life-saving treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n end-stage liver disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. All four patients have had excellent outcomes from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for up to 10 years postprocedure with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no evidence of Gaucher-related pathology in the graft\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "lysosomal storage disorder", "GD", "GD", "GD", "HCV and autoimmune chronic active hepatitis)", "end-stage liver disease", "Gaucher disease" ]

[ "reversing clinical and pathological manifestations", "severe hepatic impairment", "Liver failure" ]

[ "Enzyme replacement therapy (ERT)", "orthotopic liver transplantation", "successful liver transplantation", "long-term ERT", "Liver transplantation", "life-saving treatment", "liver transplantation" ]

[ "no evidence of Gaucher-related pathology in the graft" ]

[ "We report here a case of chronic inflammatory bowel disease revealed by multiple large cutaneous aseptic distal necrotic ulcers.", "A 44-year-old male presented with high fever at 40°C associated with multiple necrotic abcesses located on the distal part of his limbs. They were treated successfully by debridment and dressings associated with antibiotics allowing complete healing after 1 month. Six months later, the patient relapsed on his left hand with a short episode of diarrhoea. A total coloscopy revealed a Crohn's disease. Systemic corticotherapy and azathioprine were administered and complete remission was obtained with a 1-year follow-up.", "Skin manifestations that this patient presented were atypical because of their number, size, and location, exclusively distally on the limbs. This report illustrates an unusual presentation of Crohn's disease with multiple necrotic ulcers only located on the patient extremities." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic inflammatory bowel disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n revealed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple large cutaneous aseptic distal necrotic ulcers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 44-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n high fever at 40°C\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple necrotic abcesses located on the distal part of his limbs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. They were treated successfully by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n debridment and dressings associated with antibiotics\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n allowing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complete healing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n after 1 month. Six months later, the patient \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n relapsed on his left hand\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n short episode of diarrhoea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n total coloscopy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Crohn's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Systemic corticotherapy and azathioprine\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n were administered and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complete remission\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was obtained with a 1-year follow-up.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Skin manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n that this patient presented were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n atypical because of their number, size, and location, exclusively distally on the limbs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. This report illustrates an unusual presentation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Crohn's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple necrotic ulcers only located on the patient extremities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "chronic inflammatory bowel disease", "Crohn's disease", "Crohn's disease" ]

[ "multiple large cutaneous aseptic distal necrotic ulcers", "high fever at 40°C", "multiple necrotic abcesses located on the distal part of his limbs", "complete healing", "relapsed on his left hand", "short episode of diarrhoea", "complete remission", "Skin manifestations", "atypical because of their number, size, and location, exclusively distally on the limbs", "multiple necrotic ulcers only located on the patient extremities" ]

[ "debridment and dressings associated with antibiotics", "Systemic corticotherapy and azathioprine" ]

[ "Type 1 Gaucher's disease (GD1) is a lysosomal storage disorder associated with disabling bone involvement. The choice treatment for Gaucher's disease is enzyme replacement therapy (ERT). The use of bisphosphonate treatment for osteopenia and osteoporosis has been suggested.", "A 22-year-old woman diagnosed with GD1 had received ERT intermittently, depending on availability of the enzyme since the enzyme was not always available. Due to severe bone involvement and multiple vertebral fractures, intravenous administration of 60 mg of pamidronate every 3 months and safe contraception were indicated. Fifteen days after receiving the fourth infusion, the patient informed us she was pregnant. A baby girl was born by cesarean delivery at week 37, showing no evidence of skeletal abnormality or clinical signs of hypocalcemia. The baby developed normally, presenting no significant pathology. At present (age 15 months), height, body weight, and bone mineral density by DXA are within normal range. The mother showed stable total skeleton and right femoral neck bone mineral density (BMD) values, no new fractures, and only ~3% decrease in lumbar spine BMD 15 months post-delivery and after a 1 year breastfeeding period (expected average ~7-8%).", "It could be posited that pamidronate exerted a positive protective effect on the mother's skeleton with no evidence of adverse effects on pregnancy or on the baby's health to date." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 1 Gaucher's disease (GD1)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n disabling bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The choice treatment for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The use of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bisphosphonate treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteoporosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n has been suggested.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n had received \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ERT intermittently\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, depending on availability of the enzyme since the enzyme was not always available. Due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple vertebral fractures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intravenous administration of 60 mg of pamidronate every 3 months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n safe contraception\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n were indicated. Fifteen days after receiving the fourth infusion, the patient informed us \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n baby girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was born by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cesarean delivery at week 37\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, showing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no evidence of skeletal abnormality\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n or clinical signs of hypocalcemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. The baby developed normally, presenting \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no significant pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. At present (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age 15 months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n), \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n height, body weight, and bone mineral density by DXA are within normal range\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mother\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stable total skeleton and right femoral neck bone mineral density (BMD) values\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no new fractures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n only ~3% decrease in lumbar spine BMD 15 months post-delivery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and after a 1 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n year breastfeeding period\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n (expected \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n average ~7-8%)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It could be posited that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pamidronate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n exerted a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n positive protective effect on the mother's skeleton\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no evidence of adverse effects on pregnancy or on the baby's health\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n to date.</div>" ]

[ "Type 1 Gaucher's disease (GD1)", "lysosomal storage disorder", "Gaucher's disease", "osteopenia", "GD1" ]

[ "disabling bone involvement", "osteoporosis", "severe bone involvement", "multiple vertebral fractures", "stable total skeleton and right femoral neck bone mineral density (BMD) values", "only ~3% decrease in lumbar spine BMD 15 months post-delivery", "positive protective effect on the mother's skeleton" ]

[ "enzyme replacement therapy (ERT)", "bisphosphonate treatment", "ERT intermittently", "intravenous administration of 60 mg of pamidronate every 3 months", "safe contraception", "pregnant", "baby girl", "cesarean delivery at week 37", "year breastfeeding period", "pamidronate" ]

[ "average ~7-8%)" ]

[ "no evidence of skeletal abnormality", "or clinical signs of hypocalcemia", "no significant pathology", "height, body weight, and bone mineral density by DXA are within normal range", "no new fractures", "no evidence of adverse effects on pregnancy or on the baby's health" ]

[ "Gaucher disease is a genetic disorder in which the enzyme activity of lysosomal acid beta-glucocerebrosidase is impaired, causing excessive lysosomal storage of glucocerebrosidase in monocytes and macrophages. Coagulation and multiorgan disorders can develop during pregnancy in women with this disorder, affecting anesthetic management. We report the case of a woman with type 1 Gaucher disease who was scheduled for cesarean section. The blood workup showed evidence of hepatosplenomegaly and thrombocytopenia, osteopenia, and gastroesophageal reflux. Epidural anesthesia-analgesia was provided. Surgical conditions and analgesia were both satisfactory and no complications developed after withdrawal of the epidural catheter. We conclude that the management of anesthesia for pregnant women with Gaucher disease will depend on the degree of systemic involvement. Regional anesthesia has been used in many such patients, but there is insufficient literature on which to base guidelines or protocols." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in which the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme activity of lysosomal acid beta-glucocerebrosidase is impaired\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, causing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n excessive lysosomal storage of glucocerebrosidase in monocytes and macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Coagulation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiorgan disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n can develop during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with this disorder, affecting \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anesthetic management\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n who was scheduled for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cesarean section\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n blood workup\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed evidence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gastroesophageal reflux\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Epidural anesthesia-analgesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was provided. Surgical conditions and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n analgesia were both satisfactory\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no complications developed after withdrawal of the epidural catheter\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. We conclude that the management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anesthesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n will depend on the degree of systemic involvement. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Regional anesthesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n has been used in many such patients, but there is insufficient literature on which to base guidelines or protocols.</div>" ]

[ "Gaucher disease", "type 1 Gaucher disease", "Gaucher disease" ]

[ "genetic disorder" ]

[ "Coagulation", "multiorgan disorders", "hepatosplenomegaly", "osteopenia", "gastroesophageal reflux", "analgesia were both satisfactory" ]

[ "anesthetic management", "cesarean section", "Epidural anesthesia-analgesia", "anesthesia", "Regional anesthesia" ]

[ "enzyme activity of lysosomal acid beta-glucocerebrosidase is impaired", "thrombocytopenia" ]

[ "no complications developed after withdrawal of the epidural catheter" ]

[ "Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present a female patient, who was known to have aortic valve pathology from the age of 30. Despite medical follow up, at the age of 60 she presented with heart failure (NYHA III). At that time echocardiography showed severe fibrosed aortic valve stenosis. Valvuloplasty was planned, when thrombocytopenia, previously considered to be autoimmune, became severe. Anemia and leukopenia were also noted. Moderate splenomegaly and severe bone marrow infiltration were found on MRI. Bone marrow aspiration revealed typical Gaucher cells and the enzyme activity assay confirmed the diagnosis. DNA investigation showed that the patient is homozygous for the G377S mutation. To our knowledge, of all mutations identified so far, only homozygosity for the D409H mutation has been associated with cardiovascular valvular disease in patients with a rare type 3c GD. G377S, found in our patient, is a rare mutation, previously reported as a 'mild' mutation, because of the finding that homoallelic patients were essentialy asymptomatic or had mild disease. Our patient, also homozygous for G377S mutation, had a severe form of type 1 GD, with rare cardiac valve involvement, which is a previously unreported clinical presentation for this mutation. This case further proves that patients with the same genotypes can have different phenotypes, emphasizing the influence of other genetic and/or environmental factors." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has variable presentations, but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has been well characterized, with almost 300 mutations identified \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in the glucocerebrosidase gene (GBA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n patient, who was known to have \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n aortic valve pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n from the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 30\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Despite medical follow up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 60\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heart failure (NYHA III)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. At that time \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n echocardiography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe fibrosed aortic valve stenosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Valvuloplasty\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was planned, when \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n , previously considered to be autoimmune\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, became \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n leukopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n were also noted. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Moderate splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe bone marrow infiltration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n were found on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MRI\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bone marrow aspiration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n typical Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme activity assay\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n confirmed the diagnosis. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n DNA investigation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed that the patient is \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous for the G377S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. To our knowledge, of all mutations identified so far, only \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygosity for the D409H mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n has been associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiovascular valvular disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in patients with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare type 3c GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G377S,\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n found in our patient, is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, previously reported as a 'mild' mutation, because of the finding that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homoallelic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n patients were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n essentialy asymptomatic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n or had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Our patient, also \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous for G377S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, had a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe form of type 1 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare cardiac valve involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, which is a previously unreported clinical presentation for this mutation. This case further proves that patients with the same genotypes can have different phenotypes, emphasizing the influence of other genetic and/or environmental factors.</div>" ]

[ "Gaucher's disease (GD)", "GD", "rare type 3c GD", "severe form of type 1 GD" ]

[ "genetic disorder", "in the glucocerebrosidase gene (GBA)", "homozygous for the G377S mutation", "homozygosity for the D409H mutation", "G377S,", "rare mutation", "homoallelic", "homozygous for G377S mutation" ]

[ "cardiac involvement", "aortic valve pathology", "heart failure (NYHA III)", "severe fibrosed aortic valve stenosis", "Moderate splenomegaly", "cardiovascular valvular disease", "mild disease", "rare cardiac valve involvement" ]

[ "Valvuloplasty" ]

[ "thrombocytopenia", "severe", "Anemia", "leukopenia" ]

[ "Despite medical follow up", ", previously considered to be autoimmune", "essentialy asymptomatic" ]

[ "A 55-year-old man with Gaucher disease and B-cell lymphoma developed a white meniscus along the inferior portion of the anterior chamber of both eyes. In one eye, the meniscus was also temporal, reflecting the fact that he had just been lying on his left side. Aspiration of aqueous fluid confirmed that the meniscus was made up of lymphoma cells, indicating that it was a pseudohypopyon. (A true hypopyon is made up of reactive white blood cells.) Despite intensive chemotherapy, the patient expired within 14 weeks of the discovery of the pseudohypopyon. This is the first report of binocular pseudohypopyon confirmed as lymphomatous by flow cytometric immunophenotyping analysis in a patient with diffuse large B-cell lymphoma." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 55-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n B-cell lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n developed a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n white meniscus along the inferior portion of the anterior chamber of both eyes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. In one eye, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the meniscus was also temporal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, reflecting the fact that he had just been lying on his left side. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Aspiration of aqueous fluid\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n confirmed that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the meniscus was made up of lymphoma cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, indicating that it was a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudohypopyon\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. (A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n true hypopyon is made up of reactive white blood cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Despite intensive chemotherapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, the patient \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n expired\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n within 14 weeks of the discovery of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudohypopyon\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. This is the first report of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n binocular pseudohypopyon\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n confirmed as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lymphomatous\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n flow cytometric immunophenotyping analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diffuse large B-cell lymphoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "B-cell lymphoma", "lymphomatous", "diffuse large B-cell lymphoma" ]

[ "white meniscus along the inferior portion of the anterior chamber of both eyes", "the meniscus was also temporal", "pseudohypopyon", "true hypopyon is made up of reactive white blood cells", "expired", "pseudohypopyon", "binocular pseudohypopyon" ]

[ "Despite intensive chemotherapy" ]

[ "Oral amyloidosis is usually presented in the tongue and is often associated with multiple myeloma. We present three patients with unusual oral manifestations of primary amyloidosis, which to the best of our knowledge have not been previously published. In two cases the oral manifestation was overt at the time of diagnosis and all cases ended in patient mortality. Since these oral manifestations can contribute to the diagnosis of systemic amyloidosis, clinicians should be made aware of them. Future research should assess the significance of oral manifestation as a prognostic indicator." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Oral amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is usually presented in the tongue and is often associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple myeloma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We present three patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n unusual oral manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n primary amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, which to the best of our knowledge have not been previously published. In two cases the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oral manifestation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was overt at the time of diagnosis and all cases ended in patient mortality. Since these \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oral manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n can contribute to the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systemic amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, clinicians should be made aware of them. Future research should assess the significance of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oral manifestation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n as a prognostic indicator.</div>" ]

[ "Oral amyloidosis", "multiple myeloma", "primary amyloidosis", "systemic amyloidosis" ]

[ "unusual oral manifestations", "oral manifestation", "oral manifestations", "oral manifestation" ]

[ "This letter reports on the effect of enzyme replacement therapy with imiglucerase on bone healing and bone and blood abnormalities in a woman with previously untreated type 1 Gaucher disease (GD).", "The 49-year-old patient had been diagnosed with GD at the age of 28 years and had previously undergone splenectomy. She presented with pseudarthrosis 14 months after sustaining a traumatic fracture of the tibia and fibula. Therapy was begun with imiglucerase 60 U/kg q2wk. The effects of treatment on bone healing were monitored radiographically, and effects on blood and bone marrow biology were monitored by hemograms, myelograms, and hematopoietic and mesenchymal clonogenic assays.", "Objective bone healing was observed starting in the third month of imiglucerase treatment. Blood abnormalities normalized and bone marrow parameters improved over the first 9 months, including a decrease in Gaucher cells, an increase in bone marrow CD34+ cell cloning efficiency, and the appearance of mesenchymal progenitors.", "This research letter reports the results of hematologic and bone evaluations during enzyme replacement therapy with imiglucerase in a woman with previously untreated type 1 GD who presented with a traumatic fracture." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This letter reports on the effect of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone healing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone and blood abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with previously untreated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 49-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patient had been diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 28 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n previously undergone splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudarthrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n 14 months after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sustaining a traumatic fracture of the tibia and fibula\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Therapy was begun with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase 60 U/kg q2wk\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The effects of treatment on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone healing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were monitored \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n radiographically\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and effects on blood and bone marrow biology were monitored by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hemograms, myelograms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematopoietic and mesenchymal clonogenic assays\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Objective bone healing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was observed starting in the third month of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Blood abnormalities normalized\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow parameters improved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n over the first 9 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, including a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n decrease in Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increase in bone marrow CD34+ cell cloning efficiency, and the appearance of mesenchymal progenitors\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This research letter reports the results of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic and bone evaluations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n previously untreated type 1 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n who presented with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n traumatic fracture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "type 1 Gaucher disease (GD)", "GD", "pseudarthrosis" ]

[ "bone healing", "bone and blood abnormalities", "bone healing", "Objective bone healing", "traumatic fracture" ]

[ "enzyme replacement therapy with imiglucerase", "previously undergone splenectomy", "sustaining a traumatic fracture of the tibia and fibula", "imiglucerase 60 U/kg q2wk", "imiglucerase treatment", "enzyme replacement therapy with imiglucerase" ]

[ "Blood abnormalities normalized", "months" ]

[ "previously untreated type 1 GD" ]

[ "To report the analysis of the cornea and the macular retina using both time domain (TD-OCT) and Fourier domain optical coherence tomography (FD-OCT) in a case of Bietti crystalline dystrophy (BCD).", "This is a case study of a 32-year-old woman who presented with moderate visual loss in both eyes with nyctalopia. She had a complete ophthalmologic examination including fundus examination. She also underwent fluoroangiography, Goldmann perimetry, electroretinography/electrooculography, and both TD-OCT and FD-OCT examinations.", "Large atrophy of retinal pigment epithelium and choroidal sclerosis were observed on both funduscopy and angiography. Microcrystals deposits were observed in the cornea and in the retina. Visual fields were constricted and electrophysiology was greatly impaired. BCD was diagnosed. TD-OCT examination was normal whereas FD-OCT revealed modifications of the outer retina and the presence of numerous lesions corresponding to microcrystals deposits in all retinal layers. The diameter of the deposits was comprised between 18 and 100 microm.", "FD-OCT was superior to TD-OCT in detecting and localizing microcrystals in BCD. FD-OCT might be useful in the understanding and the follow-up of this rare disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n analysis of the cornea and the macular retina using both time domain (TD-OCT) and Fourier domain optical coherence tomography (FD-OCT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bietti crystalline dystrophy (BCD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a case study of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 32-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n who presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n moderate visual loss in both eyes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nyctalopia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complete ophthalmologic examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fundus examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n also underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fluoroangiography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Goldmann perimetry\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electroretinography/electrooculography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n both TD-OCT and FD-OCT examinations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Large atrophy of retinal pigment epithelium\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n choroidal sclerosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were observed on both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n funduscopy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n angiography\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Microcrystals deposits were observed in the cornea and in the retina\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Visual fields were constricted\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electrophysiology was greatly impaired\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n BCD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was diagnosed. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n TD-OCT examination was normal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n whereas \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n FD-OCT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n modifications of the outer retina\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n presence of numerous lesions corresponding to microcrystals deposits in all retinal layers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diameter of the deposits was comprised between 18 and 100 microm.\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n FD-OCT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n was superior to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n TD-OCT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in detecting and localizing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n microcrystals\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n BCD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n FD-OCT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n might be useful in the understanding and the follow-up of this rare disease.</div>" ]

[ "Bietti crystalline dystrophy (BCD)", "BCD", "BCD" ]

[ "moderate visual loss in both eyes", "nyctalopia", "Large atrophy of retinal pigment epithelium", "choroidal sclerosis", "Visual fields were constricted", "electrophysiology was greatly impaired", "modifications of the outer retina", "presence of numerous lesions corresponding to microcrystals deposits in all retinal layers", "diameter of the deposits was comprised between 18 and 100 microm.", "microcrystals" ]

[ "TD-OCT examination was normal" ]

[ "Gaucher's disease (GD) may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy with imiglucerase. GD is associated with cytopenia, bone complications, hepatosplenomegaly, hypermetabolism, and hyperactivity of the immune system manifested by polyclonal hyper gamma-globulinemia and an increased incidence of monoclonal gammopathies. High ferritin and presence of autoimmune antibodies may present and because of these abnormalities, clinical similarities with primary liver diseases may occur. We report on two patients who suffered diagnostic delay that could potentially lead to life-threatening manifestations of GD. Potential complications include: avascular necrosis, severe bleeding, chronic bone pain, life-threatening sepsis, pathologic fractures, growth failure, and liver pathology. Physician awareness will increase the likelihood of prompt detection of GD and improve its management." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n may go undiagnosed for many years, leading to severe complications that are preventable or reversible by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypermetabolism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hyperactivity of the immune system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n manifested by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n polyclonal hyper gamma-globulinemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and an increased incidence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n monoclonal gammopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n High ferritin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n presence of autoimmune antibodies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n may present and because of these abnormalities, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical similarities with primary liver diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n may occur. We report on two patients who suffered diagnostic delay that could potentially lead to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n life-threatening manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. Potential complications include: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe bleeding\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic bone pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n life-threatening sepsis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathologic fractures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Physician awareness will increase the likelihood of prompt detection of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and improve its management.</div>" ]

[ "Gaucher's disease (GD)", "GD", "GD", "GD" ]

[ "bone complications", "hepatosplenomegaly", "hypermetabolism", "clinical similarities with primary liver diseases", "life-threatening manifestations", "avascular necrosis", "severe bleeding", "chronic bone pain", "life-threatening sepsis", "pathologic fractures", "growth failure", "liver pathology" ]

[ "enzyme replacement therapy with imiglucerase" ]

[ "cytopenia", "hyperactivity of the immune system", "polyclonal hyper gamma-globulinemia", "monoclonal gammopathies", "High ferritin", "presence of autoimmune antibodies" ]

[ "Though Gauchers disease (G.D.), a lipid storage disease is most commonly encountered by the hematologist but we present a case of G.D. type-3 which is rare in Indian subcontinent.", "A 36-year-old Hindu, Indian male patient presented with bony pain, kyphosis, dragging sensation in the abdomen, dementia and ptosis of the left eyelid for one year. Clinical examination and history pointed to be a lipid storage disease. Radiological examination showed bilateral necrosis of the neck of femur. A final diagnosis of G.D. type-3 with bilateral necrosis of the femur neck was reported after examining the bone marrow smears. Unfortunately, we were unable to do the enzyme study as the patient was lost in the follow-up.", "G.D. type-3 with bilateral necrosis of femur neck is rare in our sub-continent. We are adding a new case to stress the importance of early recognition by clinical manifestation and finding of G.C. which is hallmark in the diagnosis of G.D." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Though \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gauchers disease (G.D.)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lipid storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is most commonly encountered by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologist\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n but we present a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G.D. type-3\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n which is rare in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Indian subcontinent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 36-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hindu\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Indian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n patient presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bony pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n kyphosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dragging sensation in the abdomen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dementia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ptosis of the left eyelid\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n for one year. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Clinical examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and history pointed to be a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lipid storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Radiological examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bilateral necrosis of the neck of femur\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. A final diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G.D. type-3\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bilateral necrosis of the femur neck\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n was reported after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n examining the bone marrow smears\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Unfortunately, we were unable to do the enzyme study\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n as the patient was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lost in the follow-up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G.D. type-3\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bilateral necrosis of femur neck\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is rare in our \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sub-continent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. We are adding a new case to stress the importance of early recognition by clinical manifestation and finding of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G.C.\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n which is hallmark in the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G.D.\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n</div>" ]

[ "Gauchers disease (G.D.)", "lipid storage disease", "G.D. type-3", "lipid storage disease", "G.D. type-3", "G.D. type-3", "G.D." ]

[ "bony pain", "kyphosis", "dragging sensation in the abdomen", "dementia", "ptosis of the left eyelid", "bilateral necrosis of the neck of femur", "bilateral necrosis of the femur neck", "bilateral necrosis of femur neck" ]

[ "Indian subcontinent", "Hindu", "Indian", "sub-continent" ]

[ "G.C." ]

[ "Unfortunately, we were unable to do the enzyme study", "lost in the follow-up" ]

[ "Gaucher-like or pseudo-Gaucher cells have been noted in a variety of conditions including acute lymphoblastic leukemia, Hodgkin's disease, thalassemia, and multiple myeloma. They have an eccentric, lobulated nucleus, foamy cytoplasm but lack the tubular inclusions seen in Gaucher cells. The pseudo-Gaucher cells have distinct appearances on electron microscopy which distinguish them from true Gaucher cells.Increased pseudo-Gaucher cells probably reflects the increased load of leukocyte membrane derived glucosylceramide presented to macrophages under conditions of high cell turnover when the normal pathways for its removal may be saturated.We present a case of a 72-year-old Indian Aryan female, in which the bone marrow contained sheets of histiocytes with features mimicking gaucher cells. These pseudo-Gaucher cells obscured neoplastic plasma cells causing diagnostic difficulty." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher-like or pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n have been noted in a variety of conditions including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acute lymphoblastic leukemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hodgkin's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thalassemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple myeloma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. They have an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n eccentric, lobulated nucleus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n foamy cytoplasm\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lack the tubular inclusions seen in Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n have distinct appearances on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electron microscopy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n which distinguish them from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n true Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Increased pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n probably reflects the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increased load of leukocyte membrane derived glucosylceramide presented to macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n under conditions of high cell turnover when the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n normal pathways for its removal may be saturated\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.We present a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 72-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Indian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Aryan\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n, in which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the bone marrow contained sheets of histiocytes with features mimicking gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. These \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudo-Gaucher cells obscured neoplastic plasma cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n causing diagnostic difficulty.</div>" ]

[ "acute lymphoblastic leukemia", "Hodgkin's disease", "thalassemia", "multiple myeloma" ]

[ "Indian", "Aryan" ]

[ "normal pathways for its removal may be saturated" ]

[ "A 5-year-old girl was referred to the Department of Pediatrics and Neonatology, Guglielmo da Saliceto Hospital, Italy, because of growth retardation. Clinical and laboratory investigations showed pallor, hepatosplenomegaly, anemia and low/normal platelet count. Further investigations led to the diagnosis of Gaucher disease (GD). We believe this is the first report of growth hormone deficiency in a growth-retarded child with GD. After 1 year of imiglucerase replacement enzyme therapy, her bone age had normalized, linear growth rate had accelerated, and insulin growth factor-1 (IGF-1) and, perhaps more interestingly, growth hormone deficiency, had normalized. While the pathophysiological mechanisms underlying compromised growth in GD are poorly understood, the response to imiglucerase reported in this patient suggests that growth hormone deficiency is related to the underlying metabolic disorder in GD, rather than a primary endocrine pathology. Growth hormone deficiency adds to an already extensive list of possible clinical manifestations of this heterogeneous and complex disorder." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 5-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was referred to the Department of Pediatrics and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Neonatology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, Guglielmo da Saliceto Hospital, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Italy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n, because of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth retardation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Clinical and laboratory investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pallor\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n low/normal platelet count\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. Further investigations led to the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We believe this is the first report of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth hormone deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth-retarded\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 1 year of imiglucerase replacement enzyme therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone age had normalized\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n linear growth rate had accelerated\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n insulin growth factor-1 (IGF-1) and\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, perhaps more interestingly, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth hormone deficiency, had normalized\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. While the pathophysiological mechanisms underlying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n compromised growth\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n are poorly understood, the response to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n reported in this patient suggests that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n growth hormone deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n is related to the underlying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n metabolic disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, rather than a primary \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n endocrine pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Growth hormone deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n adds to an already extensive list of possible clinical manifestations of this heterogeneous and complex disorder.</div>" ]

[ "Gaucher disease (GD)", "GD", "GD", "metabolic disorder", "GD", "endocrine pathology" ]

[ "growth retardation", "pallor", "hepatosplenomegaly", "bone age had normalized", "linear growth rate had accelerated", "compromised growth" ]

[ "1 year of imiglucerase replacement enzyme therapy", "imiglucerase" ]

[ "Italy" ]

[ "anemia", "low/normal platelet count", "growth hormone deficiency", "insulin growth factor-1 (IGF-1) and", "growth hormone deficiency, had normalized", "growth hormone deficiency", "Growth hormone deficiency" ]

[ "Ultrastructural study of skin biopsies in two cases of Gaucher disease (GD) patients (types II and III) revealed hitherto unknown alteration of the blood capillary endothelial cells (ECs) featured by hypertrophy and numerous subplasmalemmal microvesicles underneath both the apical and basal membranes. There was also prominent apical membrane folding with formation of filiform and large cytoplasmic projections, with occasional transcapillary cytoplasmic bridges. Similar, though less frequently expressed, changes were manifested at the basal membrane by numerous cytoplasmic projections into the subendothelial space. Regressive changes with EC breakdown were rare. Lysosomal storage was always absent. Besides EC hypertrophy, there was also increased EC density in the capillary lumen, leading to pronounced changes in capillary architecture with loose or incomplete EC anchoring. There were also signs of EC sprouting. Some pericytes displayed an increase in size and number of cytoplasmic processes, which often extended into distant pericapillary regions. The spectrum of changes suggests that a significant positive growth effect on EC occurs in GD. The putative mechanisms triggered by GBA1 deficiency leading to EC involvement are discussed. The authors are well aware of the fact the results, based on a nontraditional type of bioptic samples, are preliminary, but they are worth following, as further ultrastructural and functional studies of blood endothelium in GD may open a novel field in molecular cell pathophysiology of the disorder: endothelial dysfunction." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ultrastructural study of skin biopsies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n types II and III)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n revealed hitherto unknown \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n alteration of the blood capillary endothelial cells (ECs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n featured by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypertrophy and numerous subplasmalemmal microvesicles underneath both the apical and basal membranes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. There was also \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n prominent apical membrane folding with formation of filiform and large cytoplasmic projections, with occasional transcapillary cytoplasmic bridges\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Similar, though less frequently expressed, changes were manifested \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n at the basal membrane\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n numerous cytoplasmic projections into the subendothelial space\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Regressive changes with EC breakdown\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n were rare. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lysosomal storage was always absent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Besides \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n EC hypertrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, there was also \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increased EC density in the capillary lumen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, leading to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pronounced changes in capillary architecture with loose or incomplete EC anchoring\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. There were also signs of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n EC sprouting\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Some pericytes displayed an increase in size and number of cytoplasmic processes, which often extended into distant pericapillary regions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. The spectrum of changes suggests that a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant positive growth effect on EC\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n occurs in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The putative mechanisms triggered by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GBA1 deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n leading to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n EC involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n are discussed. The authors are well aware of the fact the results, based on a nontraditional type of bioptic samples, are preliminary, but they are worth following, as further \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ultrastructural and functional studies of blood endothelium\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n may open a novel field in molecular cell pathophysiology of the disorder: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n endothelial dysfunction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "types II and III)", "GD", "GD" ]

[ "Regressive changes with EC breakdown", "pronounced changes in capillary architecture with loose or incomplete EC anchoring", "significant positive growth effect on EC", "EC involvement", "endothelial dysfunction" ]

[ "GBA1 deficiency" ]

[ "Lysosomal storage was always absent" ]

[ "Pulmonary involvement is a serious complication in Gaucher disease, as is neuronopathic involvement. Few reports are available, however, on the frequency, clinical course and therapy for pulmonary involvement in patients with Gaucher disease. We report a case of type 2 Gaucher disease with severe hepatosplenomegaly, anemia, hypertonia, and psychomotor retardation. The diagnosis of Gaucher disease was confirmed by the presence of Gaucher cells in bone marrow and low serum beta-glucocerebrosidase activity (patient, 0.8; control, 4.1-9.7 nmol/mg.protein/hr) at the age of 1 year. The patient's genotype is L444P/unknown. Enzyme replacement therapy (ERT) with intravenous imiglucerase at 78 U/kg/2weeks was started, and hepatosplenomegaly and laboratory abnormalities were markedly improved after 6 months of therapy. After 8 months of therapy, respiratory impairment appeared together with a decrease of tidal volume and low SpO2 during sleep. Serum acid phosphatase and angiotensin converting enzyme levels mildly increased, and radiological findings showed bilateral ground-glass appearance without signs of respiratory infection. With the diagnosis of progressive pulmonary involvement in Gaucher disease, we increased the dosage of imiglucerase from 50 to 75 U/kg/2 weeks. After a month, respiratory symptoms and CT findings of ground-glass appearance remarkably improved, but interlobular septal and intralobular interstitial thickening persisted. The maximum permitted dosage of imiglucerase in Japan is 60 U/kg/2 weeks. Based on our experience with this case, we propose that a higher ERT dosage would be uselul for serious pulmonary involvement." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is a serious complication in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, as is \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neuronopathic involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Few reports are available, however, on the frequency, clinical course and therapy for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypertonia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n psychomotor retardation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was confirmed by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n presence of Gaucher cells in bone marrow\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n low serum beta-glucocerebrosidase activity (patient, 0.8; control, 4.1-9.7 nmol/mg.protein/hr)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 1 year\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n. The patient's \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genotype is L444P/unknown\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT) with intravenous imiglucerase at 78 U/kg/2weeks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was started, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n laboratory abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n were markedly improved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 6 months of therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 8 months of therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n respiratory impairment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n appeared together with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n decrease of tidal volume\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n low SpO2 during sleep\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Serum acid phosphatase and angiotensin converting enzyme levels mildly increased\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n radiological findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bilateral ground-glass appearance\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without signs of respiratory infection\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. With the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, we \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increased the dosage of imiglucerase from 50 to 75 U/kg/2 weeks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. After a month, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n respiratory symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n CT findings of ground-glass appearance remarkably improved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n interlobular septal and intralobular interstitial thickening\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n persisted. The maximum permitted \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dosage of imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japan\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n is 60 U/kg/2 weeks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Based on our experience with this case, we propose that a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n higher ERT dosage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n would be uselul for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n serious pulmonary involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease", "type 2 Gaucher disease", "Gaucher disease", "Gaucher disease", "serious pulmonary involvement" ]

[ "genotype is L444P/unknown" ]

[ "Pulmonary involvement", "neuronopathic involvement", "pulmonary involvement", "severe hepatosplenomegaly", "hypertonia", "psychomotor retardation", "hepatosplenomegaly", "were markedly improved", "respiratory impairment", "decrease of tidal volume", "low SpO2 during sleep", "bilateral ground-glass appearance", "progressive pulmonary involvement", "respiratory symptoms", "CT findings of ground-glass appearance remarkably improved", "interlobular septal and intralobular interstitial thickening" ]

[ "Enzyme replacement therapy (ERT) with intravenous imiglucerase at 78 U/kg/2weeks", "6 months of therapy", "8 months of therapy", "increased the dosage of imiglucerase from 50 to 75 U/kg/2 weeks", "dosage of imiglucerase", "is 60 U/kg/2 weeks", "higher ERT dosage" ]

[ "Japan" ]

[ "anemia", "low serum beta-glucocerebrosidase activity (patient, 0.8; control, 4.1-9.7 nmol/mg.protein/hr)", "laboratory abnormalities", "Serum acid phosphatase and angiotensin converting enzyme levels mildly increased" ]

[ "without signs of respiratory infection" ]

[ "Although rare, Munchausen syndrome by proxy (MBP) is a potentially life-threatening form of child abuse. Here, we report a 19-month-old female infant who presented with hepatosplenomegaly, anemia, thrombocytopenia, and recurrent septicemia. She was initially thought to have myelodysplastic syndrome. Further hematological and immunological investigations revealed no cause. beta-Glucosylceramidase enzyme activity on dried blood spot was suggestive of Gaucher disease. However, the enzyme level on cultured skin fibroblast was not consistent with Gaucher disease. The first hint about MBP was the recurrent sepsis with numerous gram negative rods. Furthermore, the mother's behavior and health history raised our suspicion about MBP. The child showed significant improvement after she was separated from the mother for a week. Finally, the mother confessed that she was spitting in local herbs and injecting it into the central line. This is, to our knowledge, the first report of MBP resembling in its presentation Gaucher disease. This case should alert the general and specialized pediatricians about MBP, as it may mimic metabolic diseases like Gaucher disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although rare, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Munchausen syndrome by proxy (MBP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a potentially \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n life-threatening form of child abuse\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Here, we report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 19-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n who presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recurrent septicemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n initially thought to have myelodysplastic syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Further \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematological and immunological investigations revealed no cause\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n beta-Glucosylceramidase enzyme activity on dried blood spot\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n was suggestive of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. However, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme level on cultured skin fibroblast was not consistent with Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. The first hint about \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MBP\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recurrent sepsis with numerous gram negative rods\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Furthermore, the mother's behavior and health history raised our suspicion about \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MBP\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n showed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant improvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n was separated from the mother for a week\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Finally, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mother\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n confessed that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n spitting in local herbs and injecting it into the central line\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. This is, to our knowledge, the first report of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MBP\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n resembling in its presentation \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. This case should alert the general and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n specialized pediatricians\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n about \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MBP\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, as it may mimic \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n metabolic diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n like \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Munchausen syndrome by proxy (MBP)", "Gaucher disease", "MBP", "MBP", "MBP", "Gaucher disease", "MBP", "metabolic diseases", "Gaucher disease" ]

[ "life-threatening form of child abuse", "hepatosplenomegaly", "recurrent septicemia", "recurrent sepsis with numerous gram negative rods", "significant improvement" ]

[ "was separated from the mother for a week", "spitting in local herbs and injecting it into the central line" ]

[ "anemia", "thrombocytopenia", "beta-Glucosylceramidase enzyme activity on dried blood spot" ]

[ "initially thought to have myelodysplastic syndrome", "hematological and immunological investigations revealed no cause", "enzyme level on cultured skin fibroblast was not consistent with Gaucher disease" ]

[ "The N188S mutation in Gaucher disease is associated with myoclonus epilepsy. We performed genetic analysis on a patient with progressive myoclonus epilepsy, who had received antiepileptic drugs for over 10 years. We detected N188S/G199D on the gene encoding glucocerebrosidase. Mutant proteins carrying each mutation were expressed in COS-1 cells (a commonly used cell line which derives from kidney cells of the African green monkey). Measurements of enzymatic activity and Western blotting analysis were performed. When residual activities were measured, glucocerebrosidase with the N188S mutation exhibited 50% activity of the wild type, and with G199D, 7.4%. Neither mutation influenced the stability of the enzyme protein. These data suggested a diagnosis of Gaucher disease for this patient, and indicated that G199D is a novel mutation." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n N188S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myoclonus epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We performed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n on a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive myoclonus epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, who had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n received antiepileptic drugs for over 10 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. We detected \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n N188S/G199D on the gene encoding glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Mutant proteins carrying each mutation were expressed in COS-1 cells (a commonly used cell line which derives from kidney cells of the African green monkey). \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Measurements of enzymatic activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Western blotting analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n were performed. When \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n residual activities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n were measured, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n glucocerebrosidase with the N188S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n exhibited 50% activity of the wild type\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G199D\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 7.4%\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Neither mutation influenced the stability of the enzyme protein\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. These data suggested a diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n for this patient, and indicated that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n G199D is a novel mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease" ]

[ "N188S mutation", "N188S/G199D on the gene encoding glucocerebrosidase", "G199D", "G199D is a novel mutation" ]

[ "myoclonus epilepsy", "progressive myoclonus epilepsy" ]

[ "received antiepileptic drugs for over 10 years" ]

[ "residual activities", "glucocerebrosidase with the N188S mutation", "exhibited 50% activity of the wild type", "7.4%" ]

[ "Neither mutation influenced the stability of the enzyme protein" ]

[ "Gaucher disease is a lysosomal storage disorder in which glucocerebroside accumulates within the macrophages in any part of the body. Varying degrees of skeletal involvement may occur besides anemia, coagulation abnormalities and hepatosplenomegaly. Most of the factors influencing the quality of life in a patient with Gaucher disease are related to bone involvement. Gaucher cell deposits may extrude through cortical erosions and cause soft tissue masses around bones which are involved by the disease. We present a 38-year-old female patient with Gaucher disease who had a large intrapelvic mass originating from left iliac bone causing femoral compression neuropathy. The classification of disease is based on neurological involvement and if symptoms exist whether the symptoms are acute or subacute. The neurological impairment caused by compression by a tumor should be distinguished from the ones reported in neurogenic forms of the disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n glucocerebroside accumulates within the macrophages in any part of the body\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Varying degrees of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skeletal involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n may occur besides \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coagulation abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatosplenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Most of the factors influencing the quality of life in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n are related to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher cell deposits\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n may \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extrude through cortical erosions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n and cause \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n soft tissue masses around bones which are involved by the disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 38-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n who had a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n large intrapelvic mass originating from left iliac bone\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n causing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n femoral compression neuropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The classification of disease is based on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurological involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and if symptoms exist whether the symptoms are acute or \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n subacute\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurological impairment caused by compression by a tumor\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n should be distinguished from the ones reported in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurogenic forms of the disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "lysosomal storage disorder", "Gaucher disease", "Gaucher disease", "neurogenic forms of the disease" ]

[ "skeletal involvement", "hepatosplenomegaly", "bone involvement", "soft tissue masses around bones which are involved by the disease", "large intrapelvic mass originating from left iliac bone", "femoral compression neuropathy", "neurological involvement", "subacute", "neurological impairment caused by compression by a tumor" ]

[ "anemia", "coagulation abnormalities" ]

[ "Total hip replacement in patients with Gaucher's disease with symptomatic osteonecrosis of the femoral head is controversial because of the high early failure rates. We describe four patients who had an uncemented total hip replacement following enzyme replacement therapy for a median of two years and one month (1 to 9.8 years) prior to surgery, and who remained on treatment. At operation, the bone had a normal appearance and consistency. Histopathological examination showed that, compared with previous biopsies of untreated Gaucher's disease, the Gaucher cell infiltrate had decreased progressively with therapy, being replaced by normal adipose tissue. The surfaces of viable bone beyond the osteonecrotic areas showed osteoblasts, indicating remodelling. In one case acetabular revision was carried out after 11 years and eight months. The three remaining patients had a mean follow-up of six years and four months (3.3 to 12 years). We recommend initiating enzyme replacement therapy at least one to two years prior to total hip replacement to facilitate bone remodelling and to allow implantation of uncemented components in these young patients." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Total hip replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptomatic osteonecrosis of the femoral head\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n is controversial because of the high early failure rates. We describe four patients who had an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n uncemented total hip replacement following enzyme replacement therapy for a median of two years and one month (1 to 9.8 years) prior to surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, and who \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n remained on treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. At operation, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone had a normal appearance and consistency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Histopathological examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed that, compared with previous biopsies of untreated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the Gaucher cell infiltrate had decreased progressively\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n with therapy\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n , being replaced by normal adipose tissue\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n The surfaces of viable bone beyond the osteonecrotic areas showed osteoblasts, indicating remodelling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. In one case \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acetabular revision was carried out after 11 years and eight months\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The three remaining patients had a mean \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n follow-up of six years and four months (3.3 to 12 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n). We recommend \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n initiating enzyme replacement therapy at least one to two years prior to total hip replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n to facilitate \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone remodelling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and to allow \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n implantation of uncemented components\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in these \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n patients.</div>" ]

[ "Gaucher's disease", "Gaucher's disease" ]

[ "symptomatic osteonecrosis of the femoral head", "bone had a normal appearance and consistency" ]

[ "Total hip replacement", "uncemented total hip replacement following enzyme replacement therapy for a median of two years and one month (1 to 9.8 years) prior to surgery", "remained on treatment", "acetabular revision was carried out after 11 years and eight months", "initiating enzyme replacement therapy at least one to two years prior to total hip replacement", "bone remodelling", "implantation of uncemented components" ]

[ "We describe a child who had anaphylactic hypersensitivity to imiglucerase therapy for Gaucher disease. Treatment was stopped and symptoms returned. After immune desensitization to imiglucerase using a rush protocol, the patient was able to resume treatment and has not had further hypersensitivity complications to date." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n who had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaphylactic hypersensitivity to imiglucerase therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Treatment was stopped\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptoms returned\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immune desensitization to imiglucerase using a rush protocol\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, the patient was able to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n resume treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and has \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n not had further hypersensitivity complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n to date.</div>" ]

[ "Gaucher disease" ]

[ "anaphylactic hypersensitivity to imiglucerase therapy", "symptoms returned" ]

[ "Treatment was stopped", "immune desensitization to imiglucerase using a rush protocol", "resume treatment" ]

[ "not had further hypersensitivity complications" ]

[ "Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3.5 years with epilepsy and regression in motor skills and speech development. Juvenile Sandhoff disease was diagnosed on the basis of a decreased hexosaminidase activity in leukocytes and a homozygous HEXB gene mutation. After the epilepsy was controlled, the clinical course remained stable for years, defined by a mild proximal myopathy and stable mental retardation. At 14 years of age the patient experienced a second episode with progressively worsening general condition with diminishing muscle power and progressive ataxia. Treatment was started with the N-alkylated imino sugar miglustat, inhibiting the glucosylceramide synthase, an essential enzyme for the synthesis of glycosphingolipids. Diarrhoea was treated with lactose restriction. We performed detailed biochemical investigations, motor and mental development analysis, brain imaging, organ function studies and quality of life score prior to and at different time points after start of the treatment. Two years after the initiation of therapy the patient has a stable neurological picture without further regression in his motor development, ataxia or intelligence. There is a subjective improvement in the fine motor skills and walking up the stairs but no change in the quality of life score. Under treatment with miglustat the clinical course in our patient with Sandhoff disease did not further deteriorate." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Substrate deprivation therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n has been successfully applied in a number of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, such as \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. So far only limited experience is available in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sandhoff disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We initiated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n substrate deprivation therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in one \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n patient, who initially presented at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 3.5 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n epilepsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n regression in motor skills and speech development\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Juvenile Sandhoff disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was diagnosed on the basis of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n decreased hexosaminidase activity in leukocytes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous HEXB gene mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. After the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n epilepsy was controlled\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical course remained stable for years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, defined by a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild proximal myopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stable mental retardation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. At \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14 years of age\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n the patient experienced a second episode with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressively worsening general condition\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diminishing muscle power\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive ataxia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Treatment was started \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n with the N-alkylated imino sugar miglustat\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inhibiting the glucosylceramide synthase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, an essential \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme for the synthesis of glycosphingolipids\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Diarrhoea\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n treated with lactose restriction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. We performed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n detailed biochemical investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n motor and mental development analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n brain imaging\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n organ function studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n quality of life score\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n prior to and at different time points after start of the treatment. Two years after the initiation \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n the patient has a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stable neurological picture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n without further regression in his motor development, ataxia or intelligence\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. There is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n subjective improvement in the fine motor skills and walking up the stairs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n but \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no change in the quality of life score\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. Under treatment with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n miglustat\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n the clinical course in our patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sandhoff disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n did \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n not further deteriorate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n.</div>" ]

[ "lysosomal storage diseases", "Gaucher disease", "Sandhoff disease", "Juvenile Sandhoff disease", "Sandhoff disease" ]

[ "homozygous HEXB gene mutation" ]

[ "epilepsy", "regression in motor skills and speech development", "clinical course remained stable for years", "mild proximal myopathy", "stable mental retardation", "progressively worsening general condition", "diminishing muscle power", "progressive ataxia", "stable neurological picture", "subjective improvement in the fine motor skills and walking up the stairs" ]

[ "Substrate deprivation therapy", "substrate deprivation therapy", "epilepsy was controlled", "with the N-alkylated imino sugar miglustat", "Diarrhoea", "treated with lactose restriction", "of therapy", "miglustat" ]

[ "decreased hexosaminidase activity in leukocytes", "inhibiting the glucosylceramide synthase", "enzyme for the synthesis of glycosphingolipids" ]

[ "without further regression in his motor development, ataxia or intelligence", "no change in the quality of life score", "not further deteriorate" ]

[ "We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a potential cytochemical diagnostic pitfall in the diagnosis of Niemann Pick disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 2 cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Niemann Pick disease, type B\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n secondary sea-blue histiocytosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. Strikingly, in both cases \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the Pick cells were positive for tartrate resistant acid phosphatase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, a finding hitherto described only in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. This report highlights the importance of this finding as a potential cytochemical diagnostic pitfall in the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Niemann Pick disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Niemann Pick disease, type B", "Niemann Pick disease" ]

[ "A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hydrocephalus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n corneal opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cirrhosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac valvular involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous D409H mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n was identified. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery for aortic and mitral valve replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Because of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe calcification of the aortic root\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n no successful valve replacement was performed\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n died\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n on the third day after the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n explorative cardiac surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n represent a life-threatening presentation of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous D409H mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. Identification of this type is essential prior to initiating appropriate \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n therapy with enzyme replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac corrective surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>" ]

[ "Gaucher disease" ]

[ "homozygous D409H mutation", "homozygous D409H mutation" ]

[ "hydrocephalus", "corneal opacities", "cirrhosis", "cardiac valvular involvement", "severe calcification of the aortic root", "died", "Cardiac abnormalities" ]

[ "surgery for aortic and mitral valve replacement", "explorative cardiac surgery", "therapy with enzyme replacement", "cardiac corrective surgery" ]

[ "no successful valve replacement was performed" ]

[ "(Full text is available at http://www.manu.edu.mk/prilozi). This is a family of three children, born to healthy Macedonian parents after uneventful pregnancies and delivery. The index child was an eight-year-old girl admitted for abdominal discomfort and distension: the spleen was 14cm below the costal margin (BCM), the liver 8cm BCM. No bone pain or pathology was reported. There was mild pancytopaenia (hemoglobin 11.2 gm/L; WBC counts 4.6 x 10;3; platelets 70 x 10;3). Liver function tests, renal ultrasound, bone scan, and a chest radiograph were within normal limits. Bone marrow analysis in this child and her two brothers (11 and 6.5 years old) revealed Gaucher cells. Both brothers had only mild anaemia, but the older brother had been splenectomized prior to diagnosis of GD1. Enzyme analysis revealed low activity (2.59, 1.62, and 2.55 nmol/h/mg protein, respectively); plasma chitotriosidase levels were also elevated. Genetic testing revealed homozygosity for the N370S/N370S mutation in all three siblings. In the absence of available enzyme replacement treatment (ERT), the girl was splenectomized. Removing an important immune organ (the spleen) introduces further risk for the patients. In addition, this does not solve the bone involvement characteristic for GD. ERT should be introduced for all GD1 patients in Macedonia. Key words: Gaucher disease, N370S mutation, siblings, enzyme replacement therapy." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">(Full text is available at http://www.manu.edu.mk/prilozi). This is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family of\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n three children, born to healthy \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Macedonian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n parents after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n uneventful pregnancies and delivery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The index child was an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n eight-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n admitted for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abdominal discomfort\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n distension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n: the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n spleen was 14cm below the costal margin (BCM), the liver 8cm BCM\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n No bone pain or pathology was reported\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. There was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild pancytopaenia (hemoglobin 11.2 gm/L; WBC counts 4.6 x 10;3; platelets 70 x 10;3)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Liver function tests\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal ultrasound\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone scan\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chest radiograph were within normal limits\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bone marrow analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n in this \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n her\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n two brothers (11 and 6.5 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n) revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Both brothers had only mild anaemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n, but the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n older brother had been splenectomized\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n prior to diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n low activity (2.59, 1.62, and 2.55 nmol/h/mg protein, respectively)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n; \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plasma chitotriosidase levels were also elevated\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic testing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygosity for the N370S/N370S mutation in all three siblings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n. In the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n absence of available enzyme replacement treatment (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenectomized\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Removing an important immune organ (the spleen)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n introduces further risk for the patients. In addition, this does not solve the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n characteristic for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n should be introduced for all \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Macedonia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n. Key words: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n N370S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n siblings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>" ]

[ "GD1", "GD", "GD1", "Gaucher disease" ]

[ "N370S mutation" ]

[ "abdominal discomfort", "distension", "spleen was 14cm below the costal margin (BCM), the liver 8cm BCM", "bone involvement" ]

[ "uneventful pregnancies and delivery", "splenectomized", "Removing an important immune organ (the spleen)", "ERT", "siblings", "enzyme replacement therapy" ]

[ "Macedonian", "Macedonia" ]

[ "mild pancytopaenia (hemoglobin 11.2 gm/L; WBC counts 4.6 x 10;3; platelets 70 x 10;3)", "low activity (2.59, 1.62, and 2.55 nmol/h/mg protein, respectively)", "plasma chitotriosidase levels were also elevated" ]

[ "No bone pain or pathology was reported", "Liver function tests", "chest radiograph were within normal limits", "absence of available enzyme replacement treatment (ERT)" ]

[ "Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2 GD (GD2) in four pregnancies in two Jewish families in Israel (in one case the mother was not Ashkenazi but was from a Sfaradi Jewish family) and also review seven additional cases of GD2 in Ashkenazi Jewish families reported in the literature. Phenotypically, GD2 in Ashkenazi Jews does not differ significantly from this form in other ethnic groups. Genotypic analysis of probands from the two Israeli families demonstrates that each carried two heterozygous glucocerebrosidase mutations. We could find no explanation why GD2 is so rare in the Jewish Ashkenazi population but we could hypothesize that homozygosity for certain Ashkenazi alleles might be lethal, leading to a lower than expected frequency of GD2 and noted that no cases of homozygous L444P has ever been described in Ashkenazi Jews." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n are divided into three types based on the presence and rate of progression of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neurologic manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. While \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has a strong predilection in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Jewish Ashkenazi\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n population, both other types lack such a propensity. We report the occurrence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 GD (GD2)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in four \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Jewish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n families in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Israel\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n (in one case \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the mother was not Ashkenazi but was from a Sfaradi Jewish family)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">FAMILY</span>\n</mark>\n and also review seven additional cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ashkenazi Jewish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n families reported in the literature. Phenotypically, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ashkenazi Jews\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n does not differ significantly from this form in other ethnic groups. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genotypic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of probands from the two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Israeli\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n families demonstrates that each carried \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n two heterozygous glucocerebrosidase mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n. We could find no explanation why \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is so rare in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Jewish Ashkenazi\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n population but we could hypothesize that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygosity for certain Ashkenazi alleles might be lethal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, leading to a lower than expected frequency of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD2\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and noted that no cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n homozygous L444P\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n has ever been described in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ashkenazi Jews\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD)", "type 1 GD", "type 2 GD (GD2)", "pregnancies", "GD2", "GD2", "GD2", "GD2" ]

[ "two heterozygous glucocerebrosidase mutations", "homozygosity for certain Ashkenazi alleles might be lethal", "homozygous L444P" ]

[ "neurologic manifestations" ]

[ "Jewish Ashkenazi", "Jewish", "Israel", "Ashkenazi Jewish", "Ashkenazi Jews", "Israeli", "Jewish Ashkenazi", "Ashkenazi Jews" ]

[ "Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease.", "Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy.", "For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n continues to find common therapeutic indications for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hematologic disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, especially \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, is the most frequently encountered \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n. Manifestations of it are highly variable. The most frequently found symptoms include \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, mostly due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hypersplenism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hepatomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Four patients were reported in the present study. Three of them were easily diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n via \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow cytology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n, and one with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was detected by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathological examination\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n following the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">For the pouse of diagnosis of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, performing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n can only be made by a special operation.</div>" ]

[ "hematologic disorders", "Gaucher's disease", "Type I", "lysosomal storage disorder", "Gaucher's disease", "Gaucher's disease", "Gaucher's disease", "Gaucher's disease" ]

[ "splenomegaly", "hepatomegaly", "bone disease" ]

[ "Splenectomy", "splenectomy", "surgery" ]

[ "anaemia", "thrombocytopenia", "hypersplenism" ]

[ "Gaucher's disease is the most common group of lysosomal storage disorders caused by defective activity of an enzyme beta-glucosidase leading to accumulation of glucocerebroside in cells of macrophage lineage. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system. Serum beta=glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. We report a clinical case of a 21 year male with Gaucher's disease. To the best of our knowledge only six cases of Gaucher's disease have been reported from India so far." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most common group of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n caused by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n defective activity of an enzyme beta-glucosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n leading to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n accumulation of glucocerebroside in cells of macrophage lineage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Accumulation of glucosylceramide in tissues\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n leads to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multisystem organ involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n viz. liver, spleen, bone marrow, lungs and central nervous system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Serum beta=glucosidase levels &lt;15% of mean normal activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n confirms the diagnosis, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n being the only definitive treatment. We report a clinical case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 21 year male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. To the best of our knowledge only six cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n have been reported from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n India\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n so far.</div>" ]

[ "Gaucher's disease", "lysosomal storage disorders", "Gaucher's disease", "Gaucher's disease" ]

[ "enzyme replacement" ]

[ "India" ]

[ "defective activity of an enzyme beta-glucosidase", "Serum beta=glucosidase levels <15% of mean normal activity" ]

[ "Gaucher's disease is the most common hereditary lysosomal storage disorder and presents with a wide clinical spectrum including parkinsonism. We present a patient first diagnosed with idiopathic Parkinson's disease at the age of 38 due to left-sided bradykinesia and rigidity. But thereafter the diagnosis of Gaucher's disease type I according to clinical pictures and clinical genetic testing was made. Despite the optimal enzyme replacement therapy, the parkinsonian symptoms worsened. He was referred for consideration for surgical treatment of his severe parkinsonism. At the age of 54 he underwent right-sided posteroventrolateral pallidotomy. The surgery was uneventful and he immediately improved. On the last examination performed 3 years later, he had mild parkinsonism and was independent in all activities of daily living. This case demonstrates a benefit of surgical treatment for genetically proven Gaucher's disease type I." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and presents with a wide clinical spectrum including \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We present a patient first diagnosed with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n idiopathic Parkinson's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 38\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n left-sided bradykinesia and rigidity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. But thereafter the diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n according to clinical pictures and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical genetic testing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n was made. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Despite the optimal enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n parkinsonian symptoms worsened\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n He\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n was referred for consideration for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgical treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n of his \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. At the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 54\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n he underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n right-sided posteroventrolateral pallidotomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgery was uneventful\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n and he \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immediately improved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. On the last examination performed 3 years later, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n he\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mild parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and was \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n independent in all activities of daily living\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. This case demonstrates a benefit of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgical treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n for genetically proven Gaucher's disease type I.</div>" ]

[ "Gaucher's disease", "lysosomal storage disorder", "parkinsonism", "idiopathic Parkinson's disease", "Gaucher's disease type I", "severe parkinsonism" ]

[ "hereditary" ]

[ "left-sided bradykinesia and rigidity", "parkinsonian symptoms worsened", "immediately improved", "mild parkinsonism" ]

[ "surgical treatment", "right-sided posteroventrolateral pallidotomy", "surgery was uneventful", "surgical treatment" ]

[ "Despite the optimal enzyme replacement therapy", "independent in all activities of daily living" ]

[ "This is a report on a 37-year-old female patient with enzymatically verified Gaucher's disease. The clinical symptoms corresponded to the neuronopathic form of the disease (type 3). A progressive cerebellar syndrome had been developing for 1 year. So far, there have been no records of complex cerebellar symptoms in connection with Gaucher's disease in the literature. After ruling out other differential diagnoses Gaucher's disease was considered to be the cause of such cerebellar symptoms, which could be attributed to toxic glucocerebroside deposits in the cerebellum." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 37-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n patient with enzymatically verified \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The clinical symptoms corresponded to the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neuronopathic form of the disease (type 3)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive cerebellar syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n had been developing for 1 year. So far, there have been no records of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complex cerebellar symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n in connection with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in the literature. After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ruling out other differential diagnoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n was considered to be the cause of such \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cerebellar symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, which could be attributed to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n toxic glucocerebroside deposits in the cerebellum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n.</div>" ]

[ "Gaucher's disease", "neuronopathic form of the disease (type 3)", "Gaucher's disease", "Gaucher's disease" ]

[ "progressive cerebellar syndrome", "complex cerebellar symptoms", "cerebellar symptoms" ]

[ "ruling out other differential diagnoses" ]

[ "Gaucher's disease is the most common lysosomal storage disorder gene defect, which leads to deficiency or decreased activity of glucocerebrosidase, followed by accumulation of glucosylceramide. There is autosomal recessive transmission leading to varied clinical manifestations. This disease has three main types: Type I - nonneuronopathic; type II - acute neuronopathic; and type III - chronic neuronopathic. The nonneuronopathic type has the highest prevalence and also the greatest variability. The authors here report two cases of Gaucher's disease with uncommon presentations in early childhood, highlighting the importance of early diagnosis of the disease, as now-a-days enzyme replacement therapy may arrest further progress of disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is the most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gene defect\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n, which leads to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency or decreased activity of glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, followed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n accumulation of glucosylceramide\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. There is \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive transmission\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n leading to varied clinical manifestations. This disease has three main types: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type I - nonneuronopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n; \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type II - acute neuronopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n; and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type III - chronic neuronopathic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nonneuronopathic type\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has the highest prevalence and also the greatest variability. The authors here report two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with uncommon presentations in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early childhood\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, highlighting the importance of early diagnosis of the disease, as now-a-days \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n may arrest further progress of disease.</div>" ]

[ "Gaucher's disease", "lysosomal storage disorder", "Type I - nonneuronopathic", "type II - acute neuronopathic", "type III - chronic neuronopathic", "nonneuronopathic type", "Gaucher's disease" ]

[ "gene defect", "autosomal recessive transmission" ]

[ "enzyme replacement therapy" ]

[ "deficiency or decreased activity of glucocerebrosidase" ]

[ "The frequency of monoclonal gammopathy of undetermined significance (MGUS) is higher in patients with type I Gaucher disease (GD I) than in the general population. Although enzyme replacement therapy is effective in the control of the disease, its effect on MGUS is still controversial. We present the case of a 65-year-old woman with extensive GD I associated with IgM MGUS, in whom enzyme replacement therapy succeeded in eradicating the monoclonal component. This observation further supports the idea that enzyme replacement therapy decreases the chronic antigenic stimulation responsible for gammopathies in Gaucher disease." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The frequency of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n monoclonal gammopathy of undetermined significance (MGUS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is higher in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I Gaucher disease (GD I)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n than in the general population. Although \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n is effective in the control of the disease, its effect on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n MGUS\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is still controversial. We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 65-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extensive GD I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n IgM MGUS\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, in whom \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n succeeded in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n eradicating the monoclonal component\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. This observation further supports the idea that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n decreases the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic antigenic stimulation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n responsible for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gammopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "monoclonal gammopathy of undetermined significance (MGUS)", "type I Gaucher disease (GD I)", "MGUS", "extensive GD I", "IgM MGUS", "Gaucher disease" ]

[ "chronic antigenic stimulation" ]

[ "enzyme replacement therapy", "enzyme replacement therapy", "enzyme replacement therapy" ]

[ "eradicating the monoclonal component", "gammopathies" ]

[ "We report a female patient with Gaucher disease (GD) type I on ERT (imiglucerase) for 5 years, which led to a significant general improvement. Aged 59 years she underwent an episode of altitude sickness followed by sepsis, disseminated intravascular coagulation, and multiorgan failure. She succumbed to a cerebral haemorrhage. Autopsy revealed liver cholestatic cirrhosis and multifocal liver carcinoma with immunophenotype compatible with cholangiocarcinoma. Analysis of the storage process revealed its absence or very low levels in the majority of liver and spleen macrophages. Gaucher cells (GCs) were seen only as occasional aggregates of various sizes in these organs. GCs were seen also in the leptomeninx of the cerebellum and as infrequent perivascular clusters in both the grey and white cerebral matters. Bone marrow was heavily infiltrated with GCs, especially in the adipocyte-rich part. GCs in this location displayed varied degrees of cytoplasmic vacuolation unrelated to the lysosomal compartment, caused by droplets of triglyceride, and interpreted as due to resorption of fragments of altered white adipocytes. All these observations point to the relative efficacy of ERT in covering the standard substrate load, which should not be exceeded as it would lead to the evolution of mature GCs. The results are discussed in relation to our recently published hypothesis on GD cell pathology." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD) type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ERT (imiglucerase) for 5 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, which led to a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant general improvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Aged 59 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n she\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n underwent an episode of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n altitude sickness\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n followed by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sepsis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n disseminated intravascular coagulation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiorgan failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n She\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n succumbed to a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cerebral haemorrhage\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Autopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver cholestatic cirrhosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multifocal liver carcinoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with immunophenotype compatible with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cholangiocarcinoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Analysis of the storage process\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n revealed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n its absence or very low levels in the majority of liver and spleen macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher cells (GCs) were seen only as occasional aggregates of various sizes in these organs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GCs were seen also in the leptomeninx of the cerebellum and as infrequent perivascular clusters in both the grey and white cerebral matters\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bone marrow was heavily infiltrated with GCs, especially in the adipocyte-rich part\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GCs in this location\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n displayed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n varied degrees of cytoplasmic vacuolation unrelated to the lysosomal compartment, caused by droplets of triglyceride\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n, and interpreted as due to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n resorption of fragments of altered white adipocytes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. All these observations point to the relative efficacy of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in covering the standard substrate load, which should not be exceeded as it would lead to the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n evolution of mature GCs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. The results are discussed in relation to our recently published hypothesis on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD cell pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease (GD) type I", "liver cholestatic cirrhosis", "multifocal liver carcinoma", "cholangiocarcinoma", "GD cell pathology" ]

[ "significant general improvement", "altitude sickness", "sepsis", "multiorgan failure", "cerebral haemorrhage" ]

[ "ERT (imiglucerase) for 5 years", "ERT" ]

[ "disseminated intravascular coagulation" ]

[ "Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n has been described in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. We reviewed the 10 cases of patients with both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients (1) was more frequent, (2) occurred at an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n earlier age\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n, (3) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n responded less well to levodopa\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, and (4) was more frequently associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n signs of cortical dysfunction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n, suggesting that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n itself is not an indication \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n for ERT or SRT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n in this setting.</div>" ]

[ "Parkinsonism", "Gaucher's disease (GD)", "parkinsonism", "GD", "parkinsonism", "GD", "parkinsonism" ]

[ "signs of cortical dysfunction" ]

[ "responded less well to levodopa", "Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism", "for ERT or SRT" ]

[ "A 13-month-old boy with Gaucher disease presented with severe thrombocytopenia, anemia and massive splenomegaly. In addition he had significant respiratory compromise caused by abdominal compartment syndrome, requiring mechanical ventilation. Because of the degree of respiratory compromise and his existing bone marrow suppression, splenic artery embolization was chosen as an alternative to splenectomy. Splenic artery embolization was performed using 355-500-microm polyvinyl alcohol particles, with 70% ablation achieved. Within 24 h of the procedure the platelet count had risen to greater than 70,000/mm(3) and to more than 170,000/mm(3) on postoperative day 4. At the 8-month follow-up the splenic size had decreased from 18 cm to 8 cm, with a platelet count of 578,000/mm(3). Partial splenic embolization provides a minimally invasive alternative to splenectomy in patients with Gaucher disease with massive splenomegaly and bone marrow suppression." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 13-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n presented with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. In addition \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n he\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENDER</span>\n</mark>\n had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant respiratory compromise\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n caused by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abdominal compartment syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, requiring \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mechanical ventilation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. Because of the degree of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n respiratory compromise\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and his existing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow suppression\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenic artery embolization\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was chosen as an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n alternative to splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Splenic artery embolization\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n was performed using \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 355-500-microm polyvinyl alcohol particles\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 70% ablation achieved\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. Within 24 h of the procedure the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n platelet count had risen to greater than 70,000/mm(3) and to more than 170,000/mm(3)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n on postoperative day 4. At the 8\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n -month follow-up\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenic size had decreased from 18 cm to 8 cm\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n, with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n platelet count of 578,000/mm(3)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Partial splenic embolization\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n provides a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n minimally invasive alternative to splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n massive splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone marrow suppression\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease" ]

[ "massive splenomegaly", "significant respiratory compromise", "abdominal compartment syndrome", "respiratory compromise", "bone marrow suppression", "70% ablation achieved", "splenic size had decreased from 18 cm to 8 cm", "massive splenomegaly", "bone marrow suppression" ]

[ "mechanical ventilation", "splenic artery embolization", "alternative to splenectomy", "Splenic artery embolization", "355-500-microm polyvinyl alcohol particles", "Partial splenic embolization", "minimally invasive alternative to splenectomy" ]

[ "severe thrombocytopenia", "anemia", "platelet count had risen to greater than 70,000/mm(3) and to more than 170,000/mm(3)", "platelet count of 578,000/mm(3)" ]

[ "Chitotriosidase is a fully active chitinase produced and secreted by activated phagocytes. Plasma chitotriosidase activity is a well-established marker of total disease burden in Gaucher disease that has proved useful in monitoring the response to both enzyme replacement and substrate reduction therapies in patients with Gaucher disease. Increased chitotriosidase plasma activity has also been observed in several other lysosomal and non lysosomal disorders. Cystinosis, a rare multisystemic lysosomal storage disease, is characterized by the intralysosomal accumulation of free cystine in many cell types including phagocytes. We here report on plasma chitotriosidase activity in a child with nephropathic cystinosis. Increased plasma chitotriosidase activity (481 nmol/h per ml; normal range 0-150 units) was found on diagnosis and prior to the initiation of oral cysteamine (Cystagon) treatment. Serial estimations of plasma chitotriosidase activity showed that it correlated with leukocyte cystine content and decreased to 100 nmol/h per ml following 14 months' treatment. This novel observation suggests that cystinosis should be included in the differential diagnosis of disorders associated with increased plasma chitotriosidase activity. Furthermore, it suggests that serial estimations of plasma chitotriosidase activity could be of value in monitoring the response to oral cysteamine treatment in cystinosis." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chitotriosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fully active chitinase produced and secreted by activated phagocytes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Plasma chitotriosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n is a well-established marker of total disease burden in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n that has proved useful in monitoring the response to both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement and substrate reduction therapies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Increased chitotriosidase plasma activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n has also been observed in several other \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal and non lysosomal disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cystinosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare multisystemic lysosomal storage disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n, is characterized by the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intralysosomal accumulation of free cystine in many cell types including phagocytes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MICROSCOPIC</span>\n</mark>\n. We here report on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plasma chitotriosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">AGE</span>\n</mark>\n with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nephropathic cystinosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Increased plasma chitotriosidase activity (481 nmol/h per ml; normal range 0-150 units)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n was found on diagnosis and prior to the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n initiation of oral cysteamine (Cystagon) treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Serial estimations of plasma chitotriosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n showed that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n it correlated with leukocyte cystine content and decreased to 100 nmol/h per ml\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n following \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14 months' treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n. This novel observation suggests that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cystinosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n should be included in the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n of disorders associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n increased plasma chitotriosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. Furthermore, it suggests that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n serial estimations of plasma chitotriosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n could be of value in monitoring the response to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n oral cysteamine treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cystinosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n.</div>" ]

[ "Gaucher disease", "Gaucher disease", "lysosomal and non lysosomal disorders", "Cystinosis", "rare multisystemic lysosomal storage disease", "nephropathic cystinosis", "cystinosis", "cystinosis" ]

[ "enzyme replacement and substrate reduction therapies", "initiation of oral cysteamine (Cystagon) treatment", "14 months' treatment", "oral cysteamine treatment" ]

[ "Chitotriosidase", "fully active chitinase produced and secreted by activated phagocytes", "Plasma chitotriosidase activity", "Increased chitotriosidase plasma activity", "plasma chitotriosidase activity", "Increased plasma chitotriosidase activity (481 nmol/h per ml; normal range 0-150 units)", "it correlated with leukocyte cystine content and decreased to 100 nmol/h per ml", "increased plasma chitotriosidase activity" ]

[ "Gaucher disease (GD) is a genetic disease caused by glucocerebrosidase deficiency. GD is treated by enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug provided by the Brazilian Ministry of Health (BMH). This study reports the implementation of the BMH guidelines for GD in the southernmost state of the country.", "We review the clinical and laboratorial data for patients seen at the reference center for GD from Rio Grande do Sul, Brazil (July 2003 to June 2006).", "Twenty-five patients were included in this study. At baseline, 19/20 were on ERT (mean dosage of imiglucerase = 51.8 U/kg/infusion), 3/17 presented anemia, and 5/16 thrombocytopenia. The amount of imiglucerase prescribed to these patients was adjusted according to the guidelines in July 2003; out of them, 18 were receiving ERT in the reference center at month 36 (mean dosage of imiglucerase = 27.5 U/kg/infusion), 2/18 presented anemia, and 4/18 presented thrombocytopenia. The analysis of the liver, spleen, and bone data presented some limitations, but the available information suggests that patients did not deteriorate. GD patients who initiated ERT after July 2003 (n = 5) received lower dosage of imiglucerase since the beginning of the treatment; most of them demonstrated clinical and laboratorial response. From baseline to month 36, the consumption of imiglucerase by the reference center showed a significant reduction, which represented savings of USD 3 million to the public health system.", "The model of care of GD patients suggested by the BMH guidelines appears to be cost-effective and could be an example for management of rare diseases in underdeveloped countries." ]

[ "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">GENETICS</span>\n</mark>\n caused by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n glucocerebrosidase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n is treated by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n provided by the Brazilian Ministry of Health (BMH). This study reports the implementation of the BMH guidelines for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in the southernmost state of the country.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We review the clinical and laboratorial data for patients seen at the reference center for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n from Rio Grande do Sul, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Brazil\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">ETHNICITY</span>\n</mark>\n (July 2003 to June 2006).</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Twenty-five patients were included in this study. At baseline, 19/20 were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n on ERT (mean dosage of imiglucerase = 51.8 U/kg/infusion)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, 3/17 presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and 5/16 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n amount of imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n prescribed to these patients was adjusted according to the guidelines in July 2003; out of them, 18 were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n receiving ERT in the reference center at month 36 (mean dosage of imiglucerase = 27.5 U/kg/infusion)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n, 2/18 presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n, and 4/18 presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thrombocytopenia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">BIOCHEMICAL</span>\n</mark>\n. The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n analysis of the liver, spleen, and bone data\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">PARACLINICAL</span>\n</mark>\n presented some limitations, but the available information suggests that patients did \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n not deteriorate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">NEG_FINDINGS</span>\n</mark>\n. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients who initiated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ERT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n after July 2003 (n = 5) received \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lower dosage of imiglucerase since the beginning of the treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n; most of them demonstrated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical and laboratorial response\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">SYMPTOMS</span>\n</mark>\n. From baseline to month 36, the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n consumption of imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n by the reference center showed a significant reduction, which represented savings of USD 3 million to the public health system.</div>", "<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n model of care\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">MEDICATION</span>\n</mark>\n of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n patients suggested by the BMH guidelines appears to be cost-effective and could be an example for management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem\">DIAGNOSIS</span>\n</mark>\n in underdeveloped countries.</div>" ]

[ "Gaucher disease (GD)", "GD", "GD", "GD", "GD", "GD", "rare diseases" ]

[ "genetic disease" ]

[ "clinical and laboratorial response" ]

[ "enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug", "on ERT (mean dosage of imiglucerase = 51.8 U/kg/infusion)", "amount of imiglucerase", "receiving ERT in the reference center at month 36 (mean dosage of imiglucerase = 27.5 U/kg/infusion)", "ERT", "lower dosage of imiglucerase since the beginning of the treatment", "consumption of imiglucerase", "model of care" ]

[ "Brazil" ]

[ "glucocerebrosidase deficiency", "anemia", "thrombocytopenia", "anemia", "thrombocytopenia" ]

[ "not deteriorate" ]