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pmc-6102915-1 | A 61-year-old man, previously diagnosed as SIT, came to our hospital for 6 months history of hematochezia and altered bowel habit. A diagnosis of rectal cancer was made in view of colonoscopic biopsy which confirmed an irregular circumferential lump of well differentiated adenocarcinoma at 10 cm from the anal verge. And the preoperative chest X-ray image and computed tomography scan revealed a total reversal of abdominal and thoracic organs, proving SIT (Fig. ). The double-contrast barium enema revealed an irregular rectal stenosis, nodulous filling defect and stiffness of involved rectal wall with destruction of mucosa. The magnetic resonance imaging showed the lump invaded through the muscularis propria and the serosa was suspiciously involved, while at least 2 enlarged perirectal lymph nodes were found, while the computed tomography (thorax + abdomen + pelvis) scan showed no distal metastasis (Fig. ). The remaining of the routine blood results were not abnormal, save a slightly decreased haemoglobin and albumin level, 12.9 g/dL and 3.8 g/dL. After obtaining informed consent, Robotic LAR with transanal NOSE was performed.
Preoperative mechanical bowel preparation was carried out with polyethylene glycol electrolytes powder. Streptomycin and metronidazole were given as antibiotic prophylaxis. The operation was performed under general narcosis while the position of the patient was adjusted to a modified lithotomy position. The patient was placed in the Trendelenburg position at 30 degree and 10-degree tilted right-side-up.
A 5-port method was adopted: two 12-mm ports for the camera and the assistant respectively, three 8-mm robotic ports. Pneumoperitoneum was established with the Veress needle approach under direct vision and a 12-mm camera port was inserted in 2 cm superior and right lateral to the umbilicus. Laparoscopic exploration of the abdominal cavity confirmed a total transposition of the abdominal organs and no abnormality from the descending to the sigmoid. The mass, in a size of 5*4*4cm3 and locating 2 cm above peritoneal reflection, suspiciously invaded the serosa without significant perirectal lymph node metastasis. The 8-mm port for robotic arm 1 was inserted in the right mid-clavicular line, 4 cm superior to the umbilicus, while the 8-mm port for robotic arm 3 was inserted in the right anterior axillary line, 4 cm inferior to the umbilicus. The third 8-mm trocar for robotic arm 2 was placed in the left lower quadrant (LLQ) that is one-third of the distance from the anterior superior iliac spine to the umbilicus. Harmonic ace curved shears, Prograsp forceps and Fenestrated bipolar forceps were respectively installed in the robotic arms 1, 3, and 2. The 12-mm assistant port was inserted in the right mid-clavicular line, parallel to the umbilicus. A 30-degree camera lens was adopted (Fig. ).
After finishing installation of the various ports, the small intestine was swept to the LUQ to expose the right lower quadrant. The procedure started from incising the peritoneum at the inferior mesenteric artery root by means of Harmonic ace curved shears. The inferior mesenteric vessels were denuded, clipped, and divided. Then the peritoneum of the sigmoid mesentery was incised over the sacral promontory just to the left of midline. With cephalic traction and countertraction to the sigmoid mesentery provided by Fenestrated bipolar forceps and Prograsp forceps, a vascular free plane between the mesentery and the retroperitoneum was developed. After identifying and safeguarding the right ureter, the plane was developed towards the caudal and lateral direction further. Then it was possible to mobilize the descending colon mesentery further. The whole descending colon and sigmoid were mobilized well from the lateral pelvic. Splenic flexure mobilization was also performed.
The next step of the procedure was mesorectal dissection. The dissection was started from posterior to the rectum, at the level of the sacral promontory, and the peritoneum was incised along both sides of the rectum down to and around the anterior peritoneal reflection. The proximal line of resection was identified at 14 cm to the superior margin of the tumor, and the proximal end of the specimen was ligated with a special plastic seal, while the distal end of the specimen was ligated at 4 cm to the inferior margin of the tumor. Then the proximal colon and the distal colon were successively transected and divided using Harmonic ace curved shears.
For specimen extraction, we used a specially designed bag with an adjustable loop of string which could close the bag. The bag was introduced through the anus, and the specimen was deposited and closed inside the bag. Following carefully dilating the anus until two fingers could be easily reached, the specimen were then grasped and slowly “snaked” out of the bag through the anus. The bag was then removed.
The aperture of the proximal colon had been previously estimated and an appropriate stapler was chosen. According to our experience, 31 mm EEA circular stapler allowed the anvil passing and resulted in a very sufficient lumen. The anvil was introduced into the abdominal cavity through the anus and was fixed in the proximal margin of the previously opened proximal colon by purse-string suture, while the redundant tissue around the anvil was cut off to ensure a full exposure of the tissue with staples. Following introducing the CEEA stapler through the anus, the second assistant slowly extruded the spike through the center of the rectal stump and performed a colorectal anastomosis with double-checking the amount of tension. We filled the pelvis with distilled water and injected air in the reconstruct bowel to ensure any leak being repaired in time by means of intracorporeal sutures (Fig. ).
After confirming anastomotic integrity, the whole abdominal cavity, and especially the trocars were watered with distilled water, bromogeramine solution and saline solution successively, and the peritoneal cavity was suctioned dry. And a closed suction drain was placed into the pelvic cavity. After removing the trocars, all port sites were immediately closed with sutures in a subcuticular fashion.
In this case, the total operative time was 210 min, while the docking time and the console time was 25 min and 185 min respectively. Estimated blood loss was less than 50 mL. The first flatus and liquid diet happened on the second day after the operation, while solid diet the fifth day. The patient convalesced nicely without any complications and was discharged on the seventh day after the surgery. The postoperative pathological diagnosis revealed a 4x4x0.6 cm3 moderately differentiated adenocarcinoma (T2 N0) with a 1 cm distal and free microscopic circumferential margin. The number of lymph nodes harvested is 13, lymph node retrieval was performed by pathology technicians (Fig. ). |
pmc-6102916-1 | The patient is a 50 year old male who received a LURT 8 years prior to presentation. He had previously undergone bilateral native nephrectomies 2 months prior to transplant for PKD. His early course was complicated by biopsy-proven acute cellular rejection, vascular type, 5 days after transplant, which was effectively treated with anti-thymocyte globulin and intravenous immunoglobulin. He subsequently went on to enjoy excellent graft function. Initially, he was maintained on standard triple immunosuppression with tacrolimus, mycophenolate mofetil (MMF) and prednisone.
Two years prior to presentation, he developed numerous squamous cell carcinomas of the skin treated with resection and radiation. One of these lesions was an invasive poorly differentiated SCC (Bowen’s type) of the left auricle, requiring auriculectomy and reconstruction. Tumor margins were negative. His immunosuppression was reduced by stopping his MMF.
One year prior to presentation he developed a parotid mass found to be SCC by fine needle aspiration. It was felt that this was a metastatic lesion from the auricular tumor. At this time, he was switched from a dual immunosuppressive regimen of tacrolimus and prednisone to sirolimus (SRL) and prednisone. He underwent a left parotidectomy and neck dissection with pathology showing invasive keratinizing squamous cell carcinoma, poorly differentiated. The tumor was 4.6 cm with lymphovascular and perineural invasion. Surgical margins were negative, but 5 out of 23 periparotid and cervical LNs were positive for metastasis with focal extranodal extension. He underwent radiation therapy and cetuximab. A surveillance PET CT performed 6 months after treatment revealed 5 bilateral pulmonary nodules, which grew over 2 months from 6 mm to 10 mm. He initiated systemic treatment with carboplatin, paclitaxel and cetuximab with minor improvement initially, followed by disease progression in the lungs and mediastinum after 7 months of treatment. He was then treated with gemcitabine, and imaging after 2 months of therapy revealed tumor growth.
A complex discussion was then held regarding symptom-focused palliative care or consideration of novel therapies. Next-generation tumor sequencing was performed on his lung biopsy specimen. Although no clear primary tumor driver was found, 16 genetic abnormalities of possible oncogenic effect were demonstrated, including an EGFR amplification event and a ROS1 mutation of uncertain significance. He enrolled in a clinical trial of the ROS1 inhibitor, entrectinib, but had clinical and radiographic progression within 6 weeks. Other clinical trial options were limited by his history of solid organ transplantation.
With his young age and active lifestyle, the patient opted to proceed with nivolumab 3 mg per kg therapy, understanding the high risk of alloimmune kidney transplant rejection. In preparation, sirolimus was tapered off and prednisone was tapered to 5 mg daily, after which his allograft function remained stable with a creatinine of 1.4 mg/dL. His sirolimus level prior to discontinuation was 6.9 ng/mL.
Thirteen days after receiving the first dose of nivolumab, he presented with low-grade fevers, oliguria and fluid retention. The physical exam demonstrated an enlarged and tender renal allograft and significant lower extremity and peri-orbital edema. Laboratory testing revealed marked acute kidney injury with a creatinine of 4.4 mg/dL. His sirolimus level was noted to be 1 ng/mL and he was treated empirically for acute rejection with a 3 day methylprednisone pulse but without improvement. A renal biopsy was deferred, as he was not a candidate for T-cell depleting therapy with his active malignancy and hemodialysis was initiated for volume overload and electrolyte disturbances. Given the life-threatening nature of his metastatic SCC, the graft was sacrificed and he continued on nivolumab therapy every 2 weeks. Imaging after 4 weeks demonstrated a partial regression in tumor burden and lymphadenopathy. For continued fevers, hematuria and marked allograft pain, an allograft nephrectomy was performed 2 months after stopping his immunosuppression. Histologic evaluation revealed hemorrhagic infarction with features of acute and chronic vascular rejection (Fig. ).
Now, he continues treatment with nivolumab and most recent imaging 18 months after treatment initiation shows stable tumor regression. He has been maintained on hemodialysis, but has been able to travel and return to an active lifestyle. |
pmc-6102931-1 | A 24-year-old white man, a middle-distance runner (800 m) competing at national level (seasonal best/personal best of 1 minute 52 seconds), developed severe left heel pain in the pre-season in March 2013. His maximum perceived pain intensity was 10 cm on a visual analog scale (VAS) that ranged from 0 to 10 cm, with 10 cm expressing the worst perceivable pain; the athlete had to interrupt all running activity, and severe pain was perceived even when walking or standing. He continued training with aqua jogging and cycling. He got personalized hand-crafted orthopedic gel peads. Two months later he was attended by an orthopedic surgeon, who additionally prescribed oral intake of nonsteroidal anti-inflammatory drugs (NSAIDs) for 8 weeks. The athlete could continue his training but was not free from pain. When discontinuing medication in July 2013, pain returned immediately, and perceived pain intensity during walking was 10 cm on a VAS (range 0–10 cm). Eight sessions of ESWT were thus added to his treatment plan, and were conducted at a German Olympic center. He did not feel better after the treatment and reported a high level of frustration. An MRI was performed in January 2014 showing a calcaneal spur, signs of inflammation at the calcaneal tubercle, and structural changes of the plantar fascia, surrounded by a large edema (see Fig. ). In February 2014 he underwent an open plantar fasciotomy. Four weeks later he was allowed to perform the first units of regenerative running. Pain returned after approximately 1 week of training. An X-ray revealed no pathology and he was recommended to continue with soft training sessions. He received a peppering injection that reduced pain for 12 hours, and NSAIDs were re-prescribed. His running performance remained at a remarkably low level in comparison to his non-injured state, despite regular personalized training sessions. He presented himself at our out-patient clinic in July 2014 (for timeline see Fig. ).
An examination identified pain to palpation at the medial calcaneal tubercle and along the medial band of the plantar fascia. Thickening and enlargement of the proximal one-third plantar fascia was noted. Full and pain-free range of motion was noted to his ankle and foot. Standing caused moderate (VAS score, 5 cm) pain; walking caused severe (VAS score, 10 cm) pain. Latent myofascial trigger points could be found in the surrounding muscles: gastrocnemius medialis and lateralis, and tibialis posterior. Apart from these symptoms no abnormalities in his medical or family history which may have been relevant to the medical case were reported and he presented himself in a good mental condition. The diagnosis based on these findings was chronic plantar fasciitis (calcaneal spur syndrome).
He was treated with neural therapy (that is, injection of < 1 ml procaine 1%, which is a local anesthetic) of the surgical scar and along the surgical puncture channel. He lay in a supine position on a treatment table. Sessions took approximately 5 minutes. In total, three sessions (at baseline, at week 1, and after 4 weeks) were performed.
At the first treatment (March 2015), he described a slurping noise, like “if something filled up the pain origin.” Afterwards he could stand pain-free and walking (not running) was subjectively improved. After the third session the pain had been completely eliminated (VAS = 0 cm). He could return to sports at the former level. Since March 2015 no recurrence of the problem could be observed. No adverse events were observed. |
pmc-6102942-1 | An 11-year-old female basketball player was referred to our radiology department with anterolateral pain of both knees over a few weeks to exclude Osgood-Schlatter disease. Previous medical history consisted of Perthes disease of the right hip at the age of 4.
Ultrasound (US) revealed bilateral normal appearance of the tibial tubercle, excluding Osgood-Schlatter disease. Subsequent conventional radiographs of both knees showed sclerotic lines parallel to the growth plates in keeping with synchronous stress fractures of both proximal tibiae (Figures , ). Additional MRI depicted low-intensity fracture lines surrounded by bone marrow oedema, confirming the diagnosis of stress fractures (Figures , , , , , ). On T2-weighted fat-saturated images we observed an extensive high-signal area of bone marrow oedema surrounding fracture lines (Figures , , , ). On T1-weighted images, the oedematous marrow changes have low signal intensity (Figures , ).
Although the conventional radiography in our case was sufficient to allow for the diagnosis of stress fracture, MRI was performed to evaluate the precise extent of the fracture line and surrounding oedema and to exclude any underlying bone marrow disease. Laboratory examination was within normal limits. The patient was treated conservatively by rest. The recovery was uneventful, and the patient was completely pain free after four weeks. |
pmc-6102943-1 | A 69-year-old man without relevant medical history presented with a small lump in the right testis. Ultrasound examination revealed a solitary intra-testicular hyperechoic 12 mm tumor with heterogeneous appearance and with multiple small cystic-like areas (Figure ). On colour-Doppler ultrasound, the tumor was hypervascular compared to adjacent parenchyma (Figure ). Dosage of α-fetoprotein, human chorionic gonadotropin and lactate dehydrogenase serum markers was normal. Computed tomography (CT) revealed a hypervascular parenchymal tumor in the right kidney. The patient underwent a right radical nephrectomy as well as a right inguinal orchiectomy. Histopathological and immunohistochemical examination demonstrated a primary renal CCRCC metastasized to the testis (Figure ), staged pT1bN0M1. |
pmc-6102943-2 | A 77-year-old man presented with painless swelling of the left hemiscrotum. He underwent a partial left nephrectomy for a CCRCC five years earlier and later developed pulmonary metastases. On physical examination, there was a firm left testicular mandarin-sized mass. Scrotal sonography showed a hyperechoic intra-testicular mass (diameter 47 mm) replacing almost the entire left testis. This heterogeneous mass contained multiple small anechoic cystic-like areas (Figure ) and was hypervascular on color-Doppler. Serum tumor markers were within normal limits. The metastatic nature of this testicular mass was confirmed by histological examination of the orchiectomy specimen. |
pmc-6102945-1 | A 29-year-old male, who is a construction worker, presented with a six-month history of bilateral anterior knee pain and underwent an MRI examination at our department. He had no history of major knee trauma. The intensity of his pain was moderate to severe at rest and increased when seated or in a squatting position. On physical examination, there was point tenderness over the suprapatellar region on both sides. No clinical or laboratory findings that supported the presence of inflammation or infection were identified. A standard anteroposterior radiograph and MRI examinations revealed bilateral multipartite patella variation. The MRI also revealed slight bone marrow edema within the main patellar fragment and nonfused bony fragments (Figure ). In addition, the MRI showed QFP edema and inflammation that was characterized by increased signal of the fat pad along with mass effect on the suprapatellar joint recess and contrast enhancement by intravenous contrast administration (Figure ). Surgical treatment was proposed for removing the unstable bony fragments, but the patient refused and received conservative treatment, including oral nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy. There was pain reduction at the two- and six-month follow-ups compared to baseline; however, he reported transient pain and discomfort after strenuous activities at the same follow-ups. |
pmc-6103389-1 | This 43-year-old male without systemic disease complained of blurred vision progressively for almost six months. Bilateral visual field defects were found under visual field examination. The patient’s high cortical functions were intact. Cranial nerve function was also normal, except for bilateral lower temporal hemiapnosia. Anatomical MRI revealed a mass lesion over sellar and suprasellar regions with heterogeneous contrast enhancement, and a cystic component that caused upward compression of the optic chiasm (Figure ). Endocrinological data included pre-operative serum measurements of growth hormone (GH), insulin-like growth factor-1, adrenocorticotropic hormone (ACTH), cortisol, prolactin (PRL), triiodothyronine (T3), thyroxine (T4), free T4, thyrotropin-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone, all of which were at normal levels.
After the provisional diagnosis of craniopharyngioma with optic nerve compression, we performed endoscopic trans-sphenoidal surgery (ETS) for tumor removal. We used a standard one-surgeon, two-hand technique via a single nostril, with the endoscope mounted on a pneumatic scope holder. A vertical linear mucosal incision was made with electric cautery near the root of the bony nasal septum. A nasal speculum was placed after dilatation of the space and fracture of the bony nasal septum without destruction of the middle turbinate. Subsequently, posterior septectomy was performed with removal of the anterior portion of the vomer bone using high-speed drills and Kerrison rongeurs. The bony septum inside the sphenoid sinus and the rostrum of sphenoid bone were removed to expose the sella turcica. The floor of the pituitary fossa was removed after confirmation of anatomy via the intraoperative navigation system or lateral skull fluoroscopy. A soft density tumor with some yellowish particles was removed endoscopically with ring curettes over the sellar region. The cystic part of the tumor with old blood content was drained during surgery. The tumor was completely removed with the diaphragm sella intact and without cerebrospinal fluid leakage. The sellar floor was reconstructed using with tissue glue and autologous bone grafts harvested during the approach. The patient had no neurological deficit after surgery. No electrolyte imbalance, diabetes insipitus (DI) sign, or hormone deficiency was noted. The original visual field defect also improved after surgery. Post-operative images indicated no residual or recurrent tumor within the two-year follow-up period (Figure ).
Microscopic examination revealed that the tumor was composed of delicate fibrovascular cores covered by a single layer of cuboidal to columnar epithelial cells (Figure ). There are no anaplastic features identified. The tumor cells were immunoreactive for cytokeratin AE1/AE3 and epithelial membrane antigen (EMA), focally positive for S-100, and non-reactive for glial fibrillary acidic protein (GFAP) (Figures -). Immunohistochemical stain with multiple pituitary hormones, including ACTH, PRL, FSH, LH, GH, and TSH, was negative. Based on these results, we diagnosed CPP. |
pmc-6103391-1 | A 49-year-old woman had a past medical history of MS; she was on post iodine-131 therapy for Graves' disease and was euthyroid after that for three years. In a follow-up visit, her thyroid function tests showed markedly elevated free T4 to 3.2 ng/dl and suppressed thyrotropin (thyroid stimulating hormone, TSH) to 0.08. She was treated with Copaxone (Teva Pharmaceuticals, PA, USA) 40 mg injection three times weekly. A month before this thyroid function test was done, the patient started to have 200 mg of biotin orally daily.
On physical examination, the patient’s thyroid gland was found to be normal and had no signs of Graves' disease. Thyroid function tests were repeated. Total triiodothyronine (T3) and free thyroxine (FT4) were both markedly elevated, while TSH was suppressed and the TSH binding-inhibiting antibody test was positive (Table ). This combination of test results was suggestive of Graves’ disease. However, the laboratory data were in striking contrast with the paucity of signs and symptoms observed in the patient.
The patient was asked to stop the biotin treatment temporarily; and one week later, repeated thyroid function tests showed completely normal results (Table ). No other change was made to her medication list, and she continued to feel well. Biotin treatment was resumed thereafter. |
pmc-6103392-1 | A 59-year-old African American male with a medical history of hypertension and abdominal aortic dissection presented to our medical clinic complaining of back pain for one month. He described it as dull, non-radiating, and with no associated motor or sensory weakness. The patient denied shortness of breath, chest pain, productive cough, weight loss, night sweats, or loss of appetite. Physical examination was unremarkable. The patient reported a 10-year pack smoking history. One year prior to the current presentation, he was admitted to our hospital with severe stabbing abdominal pain radiating to the back. Computed tomographic (CT) angiography was done which showed an abdominal aortic dissection extending from thoracic aorta to left common iliac artery that was managed conservatively with tight blood pressure control. The patient admitted to not having any follow-up imaging since discharge from the hospital.
A CT scan of the abdomen and pelvis was ordered to evaluate the abdominal aortic dissection as the cause of his back pain. The results showed a stable long segment type B dissection of the descending thoracic aorta extending into the left common iliac artery. An incidental finding of a large lobulated pleural-based mass was also seen in the lower lobe of the left lung. A CT scan of the chest with contrast was ordered for better visualization of the mass, which again identified a large lobulated pleural-based mass in the posterior mediastinum measuring 21.5 x 9 x 10.2 cm (Figure ).
A US-guided biopsy of the lung mass was done which showed a poorly differentiated malignant neoplasm with a predominantly spindle cell pattern and epithelioid features, consistent with spindle cell carcinoma. Immunohistochemical (IHC) analysis was performed, which was positive for programmed death-ligand 1 (PD-L1) with a tumor proportion score (TPS) of 85 - 90% (Figure ).
A bone scan and magnetic resonance imaging (MRI) of the abdomen and pelvis were done to determine the staging. A bone scan did not reveal any abnormal activity suggestive of osteoblastic metastatic disease. The MRI of the abdomen revealed a 2 cm x 2 cm left adrenal lesion suspicious for metastatic disease. The patient refused to undergo surgical evaluation for resection of the mass, so he was started on chemotherapy. So far, he has received one cycle of Carboplatin with a target area under the curve (AUC) of five, and Pemetrexed, 500 mg/m2. He was also started on Pembrolizumab, 200 mg intravenously (IV) to be given every third week, given the high-grade PD-L1 expression. The patient is scheduled for follow-up with a positron emission tomography (PET)-CT scan after completing his third cycle of chemotherapy. |
pmc-6103970-1 | A 20 year old Sri Lankan male who was employed as a helper in a grocery, admitted to our unit with weakness of both hands of 1 month’s duration. He was treated for serologically confirmed (Dengue NS1 antigen positive) dengue fever approximately 5 weeks ago at the local hospital and had made an uneventful recovery. He has been given 5 days of inward treatment and the records from the local hospital revealed that he had simple dengue fever with no evidence of fluid leakage.
Five days after discharge from the hospital he has first noticed the weakness of his right hand when he dropped a glass of water due to poor grip. Weakness was more in the right hand which was his dominant hand and it was slowly progressive over 1 month. At the time of presentation to us he could not write or button on his shirt due the weakness of the hands. Weakness of the left hand was milder than that of the right. The weakness was confined to hands and did not involve forearms or arms. He denied any accompanying numbness, parasthesia or pain.
On inquiry he admitted that there was slight weakness of both feet which did not significantly interfere with walking. There was no associated neck/back pain or bladder/bowel incontinence. He did not complain of difficulty in breathing, diplopia, dysphagia, nasal regurgitation, dysarthria or fatigability. He did not give a recent history of trauma to the spine/neck or any preceding diarrheal illness or skin rash.
He had no previously diagnosed long term medical ailments and has not undergone any surgical procedures in the past. He was not on any long term medications and he denied smoking, use of alcohol or illicit drugs. He did not give a family history of any progressive neurological conditions.
On general examination he had an average built with no pallor, lymphadenopathy or any signs of malnutrition. No skin rashes or hypopigmented patches were noted. There was minimal small muscle wasting of bilateral hands and feet. No muscle fasciculations were noted. Distal upper limb (hand) power was diminished asymmetrically, right hand demonstrating a power of 3 out of 5 and left hand demonstrating a power of 4 out of 5. All fine finger movements including flexion, extension, abduction and adduction were affected with some degree of weakness in wrist extension as well. Bilateral supinator and biceps reflexes were diminished.
Distal lower limb (feet) power was also diminished but was less pronounced (power grade 4) when compared to the degree of hand weakness. Bilateral foot dorsiflexion was weak. Ankle jerks were elicited with reinforcement whereas the knee jerks were elicited without reinforcement. There was no objective sensory impairment of touch, pain, temperature, vibration and joint position sensations in both upper and lower limbs. Bilateral plantar responses were down going. No palpable nerve thickening identified. No cerebellar signs were demonstrated and his gait showed a minor degree of high stepping due to weak dorsiflexion. Examination of higher functions and cranial nerves including the fundal examination revealed no abnormality.
Examination of the cardiovascular, respiratory systems and the abdomen was essentially normal.
Full blood count revealed white blood cell count: 8.5 × 109/L, platelet count: 274 × 109/L, hemoglobin 12 g/dl with normal red cell indices. Blood picture showed normochromic normocytic cells with some reactive lymphocytes suggestive of a recent viral infection. Serum creatinine 80 μmol/l (60 - 110 μmol/l), serum sodium 138 mmol/l (135 - 145 mmol/l), serum potassium 3.8 mmol/l (3.5 - 5 mmol/l), serum magnesium 0.9 mmol/l (0.8–1.1 mmol/l), serum ionized calcium 1.2 mmol/l (1.05–1.30 mmol/l). Liver profile: AST 21u/l (10 - 40u/l), ALT 13u/l (7–56 u/l), ALP 67u/l (100–360 u/l), serum total bilirubin 0.7 mg/dl (0.1–1.2 mg/dl), serum albumin 36 g/l (35 - 50 g/l), serum globulin 32 g/l (20 - 35 g/l). CPK levels were normal. Inflammatory markers: ESR 25 mm/hour and CRP < 6 mg/dl.
Nerve conduction study revealed findings in keeping with multifocal motor neuropathy with conduction blocks involving the distal upper and lower limb peripheral nerves without any conduction abnormalities in the sensory nerves (Fig. ).
CSF analysis did not show any increase in proteins or cells and the values were within the normal limits. Anti-GM1 IgM antibody test was not carried out due to the high cost of the test and the patient’s unstable financial background. A sural nerve biopsy (a sensory nerve) was carried out and revealed histologically unremarkable nerve fibres and blood vessels with no evidence of inflammation, atrophy or granulomata formation. Recent dengue infection was confirmed with positive dengue IgM and IgG antibodies with enzyme-linked immunosorbent assay (ELISA).
As the patient fulfilled criteria, the diagnosis of multifocal motor neuropathy with conduction blocks was confirmed. He was then referred to the neurologist and was started on intravenous immunoglobulin (IVIg) therapy (2 g/kg/day) which was given for 5 days. He showed a mild improvement of his neurological weakness with the treatment and outpatient physiotherapy was arranged. The next immunoglobulin dose was planned to be given after 2 weeks. |
pmc-6103999-1 | A 56-year-old Arabian woman presented to our institution with a palpable right breast mass (Fig. ). Two months prior to presentation she complained of a painless right breast lump that quickly increased in size with bluish coloration of overlying skin. She had no personal or family history of cancer, breast surgery, or breast irradiation. A physical examination revealed a 5 cm ill-defined painless mass that overlapped two upper quadrants. The mass was firm and fixed to the skin which was bluish without ulceration. There was no nipple retraction, no axillary lymphadenopathy, and no signs of lymphedema. A mammography showed no evidence of spiculation. No suspicious calcifications were seen. A needle core biopsy was performed and showed anastomosing round-to-oval spaces which contained erythrocytes. Lining cells had thin, elongated but hyperchromatic nuclei, which sometimes protruded into the luminal spaces. The neoplastic vascular channels invaded adipose tissue. Immunohistochemical stains performed on the core biopsy revealed membranous reactivity of the tumor cells for CD31-related antigen and CD34-related antigen. These findings were initially interpreted as a benign vascular tumor. However, as the mass measured 5 cm, the diagnosis of angiosarcoma was more appropriate. A mastectomy without axillary dissection was performed since angiosarcoma was suspected. At gross examination, the tumor appeared ill-defined, spongy, and soft (Fig. ). A microscopic examination revealed vascular channels lined by atypical endothelial cells with hyperchromatic, spindle-shaped or round nuclei (Fig. ). There were mild to moderately scattered pleomorphic cells, and scattered mitotic figures (Fig. ). Other sections showed papillary formations, solid foci of spindle cells, and hemorrhagic necrosis (Figs. and ). The margins of the tumor were infiltrative (Fig. ). The diagnosis of primary intermediately differentiated angiosarcoma of the breast (grade II) was made. No distant metastases were found. She was lost to follow-up and further treatment after mastectomy until she developed local tumor progression 4 months later. |
pmc-6104166-1 | This infant was born to Asian parents. The baby's mother was a 34-year-old woman, and her father was a 32-year-old man. The mother was gravida 2 and para 1 (G2P1) with good prenatal care. Their first baby was induced owing to intrauterine fetal death, and the details were unknown. There was no family history of congenital abnormalities on either side of the family, and the parents were not consanguineous. The mother also had no history of tobacco, alcohol, or substance abuse. The mother's antenatal examination was uneventful except for gestational diabetes. During pregnancy, the mother's blood glucose was maintained between 6.1 mmol/l and 8.1 mmol/l without any drug treatment. The infant's gestational age was 37 weeks and 3 days. The newborn was delivered by vaginal delivery and her birth weight (BW) was 4910 g. Apgar scores were 6 and 8 at 1 and 5 min, respectively. Owing to dyspnea 2 h after the birth, the neonate also received further examination in the NICU. On examination, a perineal defect was noted. The groove extended vertically downward from the base of the vaginal fourchette to the anterior rim of the anus at the 12 o'clock position. The perineal groove was a moist red sulcus that was ~1 cm long, 0.1 cm wide and 0.1 cm deep. There were no signs of malformation, bleeding, fistula, secretions, or infection noted in the genital area (Figure ). During admission, the infant had normal excretory functions. Her vital signs were as follows: temperature of 36.5°C; heart rate of 110 beats/min; respiratory rate of 65 breaths/min; and blood pressure of 75/39 mmHg. The newborn was diagnosed with asphyxia neonatorum, neonatal wet lung disease, fetal macrosomia, cephalohematoma of newborn, PDA, myocardial injury, and congenital perineal groove and as a neonate of a diabetic mother after further examinations. This diagnosis of perineal groove was also based on clinical examination. The neonate was discharged home with her parents at 9 days of life when all her conditions improved. Both patients in case one and case two were advised to undergo follow-up examinations. |
pmc-6104203-1 | Patient 1 is a 23-year-old man who presented in convulsive status epilepticus. He suffered traumatic brain injury and had a right frontal craniectomy 5 months prior to admission; bone flap replacement was delayed due to hospital-acquired infection. Computed tomography (CT) head showed the expected skull defect and old lesions (: CT head). Since lorazepam, levetiracetam, and lacosamide did not abort the seizures, he was intubated and propofol was started. EEG monitoring showed high-amplitude waves with phase reversals in FP2-F4 and F4-C4 F4. Because these waves did not show a clear-cut “physiological field”—even when display sensitivity was increased from 7 to 3 µV/mm—they were thought to be F4 electrode artifacts (: EEG1). Carefully cleaning the scalp, replacing the electrodes, and keeping electrode impedances between 2 and 5 kΩ failed to eliminate the “electrode artifacts.” Switching to a transverse bipolar and a referential montage did not help clarify the issue. Thus, 4 electrodes were removed from the left side of the head (spare electrodes were not within reach) and attached to 10-10 locations around F4 (AF4, FC4, F2, F6). An extended montage was then constructed (: EEG2). This simple maneuver proved that what appeared as F4 electrode artifacts were actually focal epileptiform discharges with an exceptionally “compact” electric field, that is, voltage drop was rapid at short distances from the peak. |
pmc-6104203-2 | Patient 2 is a 63-year-old woman who arrived in the emergency room in a state of delirium. She was on divalproex and zonisamide for seizure disorder, which started after resection of a frontal meningioma. CT head showed a skull defect overlying a right frontal lobe encephalomalacia (: CT head). In addition to clear-cut epileptiform spikes in T3 and F7, EEG showed phase-reversing sharp and slow waves in Fp2-F4 and F4-C4 with no clear-cut “physiological field”—even when display sensitivity was increased from 7 to 3 µV/mm (: EEG1). As in patient 1, troubleshooting the electrodes and montage reformatting were performed, but we were able to conclude that the F4 potentials are focal epileptiform discharges only when additional 10-10 electrodes were placed on the head (: EEG2). Spare electrodes were immediately available (unlike the first case) obviating the need to remove electrodes already attached to the head. Extending the montage proved that the F4 phase reversals were focal periodic epileptiform discharges. Because of the exceptionally focal scalp electric field, F4 was the only 10-20 electrode detecting a scalp potential. Adding 10-10 electrodes and extending the montage allowed us to “see” a physiological field that was “invisible” when the EEG was recorded from 10-20 electrodes only. |
pmc-6104203-3 | Patient 3 is a 77-year-old woman who became unresponsive after falling at home and hitting her head on the floor. Her right pupil was dilated and non-reactive on arrival, so intubation was immediately performed. CT head revealed a large right subdural hemorrhage and emergency evacuation was achieved with a right hemicraniectomy followed by bone flap replacement (: CT head). Postoperatively, she developed recurrent focal motor seizures of the left face and left arm. EEG monitoring initially showed intermittent F4 potentials with epileptiform morphology but without clear-cut “physiological field”—even when display sensitivity was increased from 7 to 3 µV/mm (: EEG1). Once again, the absence of a physiological field raised the possibility of F4 electrode artifacts. The EEG subsequently showed periodic epileptiform discharges and focal seizures in F4 and T4 (: EEG2-3). With such evidence of right frontotemporal cortical hyperexcitability and epileptogenic focus, it would be impractical to add 10-10 electrodes and extend the montage. Thus, the same issue was virtually resolved in patient 3, not by adding electrodes and extending the montage, but through hindsight (our experience with the first 2 patients) and by taking other findings into consideration (focal periodic epileptiform discharges and focal seizures in F4 and T4). |
pmc-6104205-1 | A 32-year-old alcoholic male with liver steatosis presented with hemorrhagic necrotizing pancreatitis with peritonitis and retroperitoneum involvement. He was started on conservative therapy and percutaneous irrigation and drainage. Unfortunately, he rapidly deteriorated on hospital day 4 into acute abdominal compartment syndrome with acute respiratory distress. He was intubated and underwent damage control laparotomy resulting in pancreatic necrosectomy with subtotal pancreatectomy, splenectomy, repair of superior mesenteric vein, and wedge liver biopsy. Intraoperatively, peripancreatic necrosis was noted to extend proximally to diaphragm with extensive dissection throughout the retroperitoneum and at the root of the small bowel retroperitoneal area. During his second relaparotomy on hospital day 5 for removal of abdominal packing, incidental duodenal and gastric enterotomies were noted and repaired. Retroperitoneal edema was much improved. Cholecystectomy was performed for eosinophilic cholecystitis. Large Davol sump drains were placed for postoperative irrigation. Whittman patch and wound vacuum-assisted closure were placed. He required prolonged intensive care unit (ICU) admission with mechanical ventilation. Four additional operations were required to reapproximate his abdominal fascia. Skin was eventually closed on hospital day 17.
His course was also complicated by pleural effusions, pulmonary embolism, and persistent fevers and leukocytosis. Pleural effusions were therapeutically drained and were culture negative. Heparin was bridged to warfarin for his pulmonary embolism. Meropenem, linezolid, and micafungin were started empirically on hospital day 19.
Peritoneal fluid was collected on hospital day 19 and sent for culture, which grew Klebsiella oxytoca and vancomycin-resistant Enterococcus faecium (VITEK2, bioMérieux, Durham, NC). There was suspicion of incomplete drainage of intraabdominal fluid, and so a retroperitoneal drain was placed by interventional radiology on hospital day 31. Culture of this retroperitoneal fluid grew vancomycin-resistant enterococci E faecium (VITEK2, bioMérieux) and M capitatus (identification by phenotypic characterization and DNA sequencing of targets internal transcribed spacer region of the rRNA gene and the D1-D2 domain of the large-subunit rRNA gene and the D1-D2 domain of the large-subunit rRNA gene by University of Texas Health Science, San Antonio, TX; see -). Peritoneal fluid was collected again from hospital day 40, and it grew M capitatus, K oxytoca, and Streptococcus sanguinis (VITEK2, bioMérieux). He also developed eosinophilia (absolute eosinophil count of 800) on hospital days 42 to 46.
Meropenem was de-escalated to a 2-week course of ceftriaxone on hospital day 45 (changed to ciprofloxacin at discharge). Linezolid was discontinued after a 2-week course was completed. A 12-week course of voriconazole (minimum inhibitory concentration = 0.25 µg/mL by Clinical and Laboratory Standards Institute broth dilution M27-S4 method by the University of Texas Health Science, San Antonio, TX; see ) was started on hospital day 45. Warfarin for his pulmonary embolism was switched to enoxaparin due to drug-drug interaction of warfarin with voriconazole. He started to improve and was eventually discharged home on hospital day 50 with follow-up in outpatient clinic, ambulating and tolerating food.
At 12-week follow-up, the patient reported abstinence from alcohol since initial hospital admission. The patient’s wife was supportive during the entire hospital stay as well as the post hospital recovery, ensuring wound dressing changes and medication compliance. Liver function was monitored every 3 to 4 weeks as an outpatient throughout the 12-week course of voriconazole. Liver function was within normal limits. He completed a 90-day course of anticoagulation. |
pmc-6104220-1 | A 59-year-old man, a carpenter by trade, with congenital hydrocephalus with reportedly multiple shunt revisions at a young age and a right nephrectomy at the age of 5 years was transferred from an outside hospital for a higher level of care. Two months prior, he underwent left hip arthroplasty and was discharged to a rehabilitation facility.
During his stay at the rehabilitation facility, the patient had episodes of urinary retention, requiring a Foley catheter. He subsequently suffered a seizure, developing sixth nerve palsy, and nuchal rigidity. He was admitted to an outside hospital. It was reported that he had a Pseudomonas aeruginosa urinary tract infection and recurrent culture-negative meningitis. Imaging reported the presence of the proximal remnant of a ventricular shunt () that was placed in childhood. The patient received multiple courses of antibiotics including azithromycin, vancomycin, ceftriaxone, cefepime, and then meropenem. His course was complicated with the development of an allergic reaction to antibiotics and a pulmonary embolism.
On transfer to our institution, all antibiotics were stopped. The patient failed a trial of voiding with acute urinary retention. A Foley catheter was placed. The following morning, the patient developed a headache, sixth nerve palsy, and nuchal rigidity. A computed tomography (CT) scan of the head revealed worsening hydrocephalus. He was admitted to the intensive care unit and an external ventricular device was placed. Cerebrospinal fluid (CSF) studies revealed acute bacterial meningitis with glucose <1 mg/mL and grew P aeruginosa (aztreonam MIC [minimum inhibitory concentration] 1.5 µg/mL). Urine cultured extended spectrum β-lactamase Klebsiella pneumonia (aztreonam MIC >256 µg/mL) and P aeruginosa (aztreonam MIC 1.5 µg/mL; speciation and sensitivities by VITEK2 and ETEST, bioMérieux USA, Durham, NC) Based on these results, the patient was started on aztreonam and fosfomycin.
The family reported the presence of a “kidney shunt” placed in childhood. After a review of relevant medical literature, we suspected the presence of a ureterodural anastomosis as all imaging did not show evidence of functional hardware. After the resolution of meningitis, a CT myelogram was performed and revealed the presence of a patent ureterodural anastomosis ().
The patient underwent the removal of the retained proximal remnant of ventricular shunt (P aeruginosa, 14 colony forming units [CFU] by semiquantitative culture of catheter tip). Further history obtained from the family revealed this ventricular shunt was the remnant of a ventricular atrial shunt that failed due to infection and required the removal of the distal end of the catheter. After completion of a 25-day course of aztreonam and confirmation of CSF sterility, a robot-assisted laparoscopic exploration of right retroperitoneum with ligation of right ureter was performed () immediately followed by a VP shunt placement during same operative session.
The patient was successfully discharged to an acute rehabilitation facility and subsequently home without recurrence of meningitis. |
pmc-6104413-1 | A 63-year-old man with pancreatic head cancer underwent pancreaticoduodenectomy (PD) after receiving two courses of neoadjuvant chemotherapy with gemcitabine (GEM) and S-1 for 6 months preoperatively based on the protocol of clinical research (Japan Adjuvant Study Group of Pancreatic Cancer 04 study). Ascites cytology was negative of cancer cell. Histopathologically, the tumor was diagnosed as poorly differentiated, tubular adenocarcinoma, with pT2, N0, pStage IB according to the UICC classification, seventh edition []. R0 was achieved.
After the surgery, he received adjuvant S-1 therapy. Three months after PD, blood tests showed coagulation derangements with high C-reactive protein (CRP 11.30 mg/dl). Computed tomography scan (CT) revealed a 55-mm mass alongside the transverse colon (Fig. a). During 2 weeks of follow-up, the coagulation derangement and elevated CRP (17.66 mg/dl) persisted (Fig. ). Repeat CT showed that the tumor enlarged to 65 mm, and an additional mass, 25 mm in diameter, was detected in the jejunum (Fig. b). He was hospitalized due to abdominal pain and diarrhea with persistent high fever and was inspected; however, there was no evidence for infections. With the understanding that his life-threatening symptoms were secondary to the underlying malignancy, extirpation of the tumors combined with partial resection of the transverse colon and the jejunum was performed on the eighth day of hospitalization, on an emergency basis.
Figures and showed the histopathological findings of the two lesions. In both resected specimens, the tumor extended to the submucosal layer and occluded the lumen of the bowels. The lesions were identified as large and small bowel metastases from PC because histopathological examination revealed morphological features similar to the primary disease. Ascites cytology at this time was also negative of cancer.
Immediately after the emergency surgery, the fever resolved and the CRP level normalized (Fig. ). He was discharged and received nab-paclitaxel with GEM chemotherapy for 2 months postoperatively. He selected for best supportive care after this. The patient died due to a relapse with mesenteric lymph node metastasis 7 months after the emergency surgery (13 months after the first surgery).
In general, patients with PC recurrence are not considered as surgical candidates. Even if a metastatic lesion was thought to be solitary, it is usually treated as a systemic disease. However, in oncological emergencies, surgical intervention should be considered. In the past decades, several reviews about oncological emergencies and their general management have been published []. Obstruction of the gastrointestinal tract is the most frequent surgical emergency seen in practice [] []. In malignancies, surgical interventions such as bowel resection, bypass, or ileostomy may provide good palliation by reducing symptoms and alleviating obstruction but remains dependent on the disease extension in each individual patient [].
As the patient’s condition is often very poor in the emergency setting, especially for patients with end-stage disease, emergency surgery is associated with rates of morbidity of up to 61%, 30-day mortality of 9.8%, and overall mortality of 15–37% []. On the other hand, endoscopic alternatives for surgery include tumor ablation and decompression by stent placement []. Thus, in case of malignant obstruction, some reports highlighted that surgery for malignant obstruction should be reserved for patients with resectable disease, good performance status (ECOG > 1), and a life expectancy of more than 6 months [].
In the present case, the patient had deranged coagulation, fever, and elevated CRP, and in the absence of infection or others diagnoses, malignancy was presumed to be the cause. Tumor-produced inflammatory cytokines sometimes cause fever, which is commonly seen in hematologic disease, but also occurs in solid tumors. Thus, the surgical intervention was performed on an emergency basis. Furthermore, as there were two lesions in the intestine, bowel resection was performed instead of a bypass, which was less likely to improve the bowel obstruction. Consequently, he was able to go back home and survived for 7 months after the emergency surgery.
Because there were few reports about metachronous intestinal metastases after PC surgery (Table ), it is unclear whether surgery could improve these patients’ prognoses. However, in oncological emergencies, surgical intervention is expected to improve patient’s quality of life. Although the patient was diagnosed in a terminal cancer stage, there might be an advantage for resecting metastatic tumors. Based on the advancement of multimodality treatments, such as chemotherapy, in the recent years, even metastatic lesions from PC would turn to be resectable in some cases. Therefore, surgical resection should be considered for large and small bowel metastasis from resected PC in selected patients. |
pmc-6104431-1 | In Hospital Quironsalud Malaga, Spain, on June 2017, a 31-year-old woman was referred to the Assisted Reproduction Unit by the Gynecologic Department of our institution, for counseling about her options of FP, since an oophorectomy of her right single ovary affected by an ovarian tumor had been indicated.
The patient was nulligravida, with no couple, had never attempted a pregnancy, with regular menses since the age of 12. The patient had lost her other ovary, six years ago, after a laparoscopic oophorectomy due to a mature teratoma of 14 cm in diameter. Two years ago, she suffered a cervical conization after a diagnosis of “in situ” cervical carcinoma.
During her periodical yearly reviews for her cervical process, cervical smear, pelvic examinations and ultrasounds were normal. Six months before the actual visit, she mentioned that her gynecologist described a “dense white” nodule of less than 1 cm that could be seen in an ultrasound in the remaining right ovary, and that it could be considered as the initiation in the development of a new teratoma, with recommendation to be observed more frequently. Only six months later, during a transvaginal scan, she presented an ovarian mass () of 6.5×5×4.8 cm, multilocular, occupying the whole ovary, with round cystic follicle-like formations, 9 to 18 mm in diameter, in a number of around 15, most of them anechoic. In contrast, the expected “sebaceous” content or hair, typical in teratoma could not be seen. Between the cysts, thick and hyper reflective walls could be seen, some of them with a thickness up to 1.2 cm. Also, an isolated densely echogenic mass of 1 cm in diameter, resembling the typical “dermoid plug” or Rokitansky nodule, could be observed. There was no ascitis. Another solid mass of around 2.5 cm in diameter was adjacent to the ovary, resembling a subserous uterine fibroid. The color Doppler mapping showed abundant vascularization in the solid central parts of the tumor. The endometrium was thin, according to her menstruation that started three days before. The rest of the pelvis was normal and the other ovary was not visible as expected.
The patient also mentioned some pelvic discomfort in the last weeks, but she had no other symptoms or weight loss in the last months. A rapidly growing teratoma was suspected. The study was completed with a magnetic resonance (MRI) that diagnosed a “probable mucinous cystadenoma” in the right ovary without visible extraovarian extension.
The choice of an oophorectomy was selected because ultrasound and MRI determined a very complex mass, with rapid growth, difficult to characterize as clearly benign, and without a significant healthy portion of the ovary to be observed in the future. Tumor markers (Ca-125, Ca 19-9, Ca 15.3, CEA) were in the normal range. Being a teratoma, the most probable type of tumor considering her antecedents, neither the ultrasound nor the MRI, could absolutely confirm the diagnosis, and the disposition of the tumor did not permit to think that a conservative surgery was possible since no “normal” areas of the ovary could be distinguished.
After a thorough discussion about all medical and personal factors (residence in Northern African zone with difficulties for medical surveillance, absence of a couple and no immediate reproductive chances), the patient accepted laparoscopic surgery involving oophorectomy and other possible actions derived from the surgical examination of her abdomen.
A proposal for oocyte cryopreservation, following ovarian stimulation and ex-vivo follicular aspiration was offered to the patient, after extensive information and explanation of the procedure, possibilities and risks. The aim of the extracorporeal follicular aspiration was to ease the aspiration of the follicles in such an atypical ovary and to avoid spillage of uncertain tumoral content in the abdominal cavity. Patient was informed about all the aspects of oocyte cryopreservation and blood test was performed to assess infectious status (B and C hepatitis, HIV, syphilis) and other clinical and preoperative parameters. Tests to determine anti-müllerian hormone levels and a thyroid profile were also performed. Written consent for fertility preservation was obtained according to our Institutional Review Board.
An ultrasound estimation of her ovarian reserve through antral follicle count (AFC) was not feasible due to the characteristics of the ovary, already full of follicle-like formations. With a BMI of 21, 48 kg/m2
, and an intention to obtain as many oocytes as possible, after obtaining written consent for all the procedures, and the patient being coincidentally in the fourth day of her cycle, an injection of chorifollitropin alpha 150 mg (Elonva, MSD) was indicated, adding a daily injection of 0.25 mg of ganirelix (Orgalutran, MSD) from the 6th day of stimulation. On the seventh day after the injection, some apparently new follicles could be distinguished from the other cysts with difficulty; comparing with previous images, three to four probable follicles were seen, with 13–15 mm in diameter. On this day, hormonal levels were: estradiol 906 ng/ml, progesterone 0.86 ng/ml, and LH 1.12 ng/ml. Anti-müllerian hormone levels were received this day, with a value of 1.1 ng/ml.
On the 8th and 9th day, 200 units of r-FSH (Gonal-F, Merck) were added to the ganirelix injection and, finally, on the 10th day, a dose of 250 mcg of recombinant HCG (Ovitrelle, Merck) was subcutaneously injected. The election of the moment for the trigger was based more on our clinic′s average length of antagonist protocol cycles (9 days of stimulation) than in the diameter of the follicles, since distinguishing growing follicles from tumor cysts images was somehow difficult. Thus, a new hormonal determination was considered unnecessary.
Surgical intervention was scheduled to start 35 hr after the HCG injection. Laparoscopy under general anesthesia started on time. Absence of ascitis or lesions in the peritoneum and abdominal organs surfaces could be observed. The left fallopian tube was absent but a small piece of ovarian albuginea, 5 mm in diameter, could be distinguished in the left uteroovarian ligament, with no identifiable follicular structures. No adhesions were noted in the abdominal cavity or pouch of Douglas. The right ovary was free of adhesions, easily movable, presented a lightly irregular but smooth surface and some protruyent amber-translucid cystic formations could be distinguished among some sclerotic and opaque-greysh areas. The right fallopian tube looked normal. A subserous pediculated fibroid of 25 mm in the posterior wall of the uterus, close to the uteroovarian right ligament, was easily removed. The patient presented a 6 cm scar from the previous oophorectomy in right lower quadrant area which was considered enough for a safe extraction to avoid spillage of ovarian content and rupture of the follicles. Thus, after lavage of peritoneal cavity with saline serum and collection for cytologic evaluation, oophorectomy was performed carefully without any rupture. The specimen was placed in a bag and extracted through the right lower quadrant incision without other difficulty than a little extension of its length to facilitate the extraction. Then, the specimen was taken to the assisted reproduction laboratory, contiguous to the operating room where the surgery was completed. No other suspicious or metastatic lesions were observed in the abdominal cavity. The transport of the bag was made in a stainless steel recipient 30×10 cm, partially filled with 500 ml of NaCl 0.9% at 37°C.
Once in the laboratory, the bag was rinsed with NaCl 0.9% and its content was poured in a Petri dish, to observe if any possible follicular rupture during the extraction could have left any oocyte in it. The specimen, 8×6×5 cm in diameter, was placed minutes after the operative section of vascular pedicles, in another stainless steel recipient 30×10 cm, partially filled with warm saline and Sydney IVF Gamete Buffer (COOK Medical) ().
With the help of an assistant carefully holding the ovary, in a sterile way with latex and powder free gloves, follicle aspiration was performed with ultrasound guidance (ultrasound system Logic P3, vaginal probe E8c, General Electric) using the vaginal probe as normally done in conventional oocyte retrievals, covered with a latex free sterile cover and equipped with a plastic disposable guide (). For the follicle aspiration, a single lumen needle (Ovum aspiration needle 17GA/30 cm, Cook Medical) was used as in normal routine vaginal procedures. The image obtained was very satisfactory, and a specular image of the specimen was formed due to the rebound of ultrasound in the bottom of the steel recipient. The aspiration at a negative pressure of 150 mm Hg with a follicle aspirator (ASPI-3, Labotect) resulted in traditional vaginal retrievals, and was started on those follicles which ultrasound echogenicity and size resembled most as normally observed ones in conventional IVF procedures (). The obtained fluids were collected in six and a half, 14 ml tubes, placed in a heating block (Labotect) at 37°C and taken under the laminar flow chamber for microscopic analysis. During the aspiration, if a non clear fluid was obtained, the aspiration system was rinsed with media for the system to be clean for the next cavity to be aspirated, in order to avoid any damage on the oocyte that could be produced by any fluid different than the follicular one such as blood, mucus, sebum, etc. Eighteen cavities (approximately, 8 to 20 mm in diameter) were aspirated in total, filling 6 and a half tubes, and two of them in which content was clearly not serous fluid, were ignored. The first 7 cavities were aspirated, 3 tubes filled and they contained 5 cumulusoocyte complexes, while the other one was found in a fifth tube filled with mixed serous and bloody material. The fourth, sixth and seventh tubes did not contain any oocyte. During the filling of the fourth tube, a yellow dense fluid appeared in small amount, so the system was rinsed to continue with the fifth tube. The aspiration procedure was completed in 9 min.
Six cumulus-oocyte complexes were retrieved, all of them aspirated from the ovary. After 30 min, embryologists proceeded to denudation with hyaluronidase 80 U/ml (SAGE IVF Inc). Five metaphase II oocytes and one metaphase I were characterized. All mature oocytes were vitrified using Cryotop (Kitazato) and the method described by Kuwayama ().
Postoperative period was completely normal and the patient was discharged 48 hr later.
The pathology study diagnosed a subserous uterine fibroid, a normal fallopian tube, and a benign struma ovarii (monodermic mature cystic teratoma) with cytologic study of peritoneal fluid negative for malignancy. Thyroid function profile tests from blood samples obtained on the day of the surgery (TSH, T4, free T4, and T3) were performed after knowing the pathologist′s report, and the results were completely normal. |
pmc-6104436-1 | This 73-year-old patient with prostate cancer presented with slowly progressive memory decline over the last years, mainly having trouble remembering new names and appointments. He had been diagnosed with prostate cancer 10 years before and hepatic metastases were detected a few months prior to presentation. He had a history of asthma and migraine, but had been without symptoms for over 20 years. At the time of presentation, his prostate cancer was treated with docetaxel.
His neurological examination was unremarkable, except for mild tandem gait imbalance. The Montreal Cognitive Assessment (MOCA) revealed mild cognitive impairment with 22/30 points (normal ≥26) with deficits in language, abstraction, verbal memory, and orientation. ARHGAP26 antibodies were detected in serum with a CBA (titer 1:3,200) (Figures ). Immunohistochemistry identified the typical cerebellar staining of the molecular layer and PCs (dilution 1:1,000) (Figures ). Interestingly, rat hippocampal staining showed a fine granular-to-smooth pattern (1:320). 6 month later, immunohistochemistry remained highly indicative of ARHGAP26 (1:3,200), while the CBA titer increased to 1:10,000. The patient received no immunosuppressive therapy and died a few months later of metastasized prostate cancer. |
pmc-6104436-2 | This 77-year-old man with gastric adenocarcinoma und lung metastases showed cognitive impairment in a detailed neuropsychological work-up. He was diagnosed with gastric carcinoma following abdominal pain 2 years prior to presentation. The patient, a smoker with 30 pack-years, had a history of CAD, AHT, peripheral artery disease, and chronic obstructive pulmonary disease. Staging revealed a pulmonary nodule that was consistent with a distant metastasis of the gastric adenocarcinoma on biopsy. The patient was started on chemotherapy with four cycles of FLOT regimen (fluorouracil, leucovorin, oxaliplatin, and docetaxel), followed by gastric resection and radiotherapy of the lung metastasis with additional four cycles of adjuvant FLOT chemotherapy.
At the time of presentation, there was no evidence of local carcinoma recurrence. The pulmonary nodule remained stable. Neurological examination was unremarkable. Cognitive testing showed deficits in short-term memory, attention, and executive function. Serum testing revealed autoantibodies against ARHGAP26 on CBA (1:100) and immunohistochemistry (1:100).
Table summarizes clinical and diagnostic features of all previously reported ARHGAP26-positive patients including the cases above. |
pmc-6104896-1 | A 61-year-old male patient with a known diagnosis of neurofibromatosis type I presented to the emergency department with a complaint of melena of two days duration. He had been complaining of fatigue and lightheadedness as well. He denied any nausea, vomiting, or abdominal pain. The use of nonsteroidal anti-inflammatory drugs was denied.
His past medical history is significant for an asymptomatic GIST on esophagogastroduodenoscopy (EGD) screening that was treated with neoadjuvant imatinib therapy and, subsequently, completely resected three months prior to presentation.
The physical examination revealed no abnormal findings. Laboratory testing was remarkable for blood urea nitrogen (BUN) 37 mg/dL, creatinine 1.1 mg/dL, hemoglobin (HB) 6.5 g/dL, and mean corpuscular volume (MCV) 78.7 fL/red cell.
A computed tomography (CT) scan of the abdomen (Figure ) was performed and elicited a suspected mass in the stomach. No signs of metastasis were present.
The patient was admitted and gastroenterology was consulted.
He underwent an EGD (Figure ), which showed a 5-cm gastric mass in the proximal posterior body of the stomach with bleeding stigmata.
The pathology report was consistent with GIST, as can be seen in Figures -.
The patient underwent laparoscopic partial gastrectomy without complication, given the size of the GIST, and recurrence following a consultation with the surgery department. |
pmc-6104906-1 | We present a case of a 34-year-old male with no past medical history who presented to the emergency department (ED) with several hours of left-sided chest pain and headaches. The symptoms were preceded by one week of viral prodrome with rhinorrhea, sore throat, mild fevers, and poor oral intake. He appeared acutely distressed due to chest pain, with a blood pressure of 73/43 mmHg, heart rate 116 bpm, respiratory rate 20/min, oxygen saturation 100% on two liters of supplemental oxygen via the nasal cannula. The cardiac examination was significant for a Grade III/VI pansystolic murmur, best heard at the apex with radiation to the axilla. The ECG revealed high-risk findings with ST elevation in aVR and reciprocal depressions in the remaining leads. Initial labs showed abnormalities of bicarbonate, creatinine, and lactic acid.
Due to this constellation of high-risk ECG, hemodynamic instability, and chest pain refractory to medical therapy, the patient was taken for emergent cardiac catheterization. A coronary angiogram and left ventriculography showed only minor luminal irregularities, hyperdynamic systolic function, 2+ mitral regurgitation, and a left ventricular end-diastolic pressure of 22 mmHg. On right heart catheterization, the right atrial pressure was 13 mmHg, the right ventricular pressure was 50/15 mmHg, the pulmonary artery pressure was 50/22 (mean 34) mmHg, and the pulmonary capillary wedge pressure was 29 (v wave 51) mmHg. A transthoracic echocardiogram showed moderate mitral regurgitation (MR) with thickened leaflets and an echodensity in the submitral apparatus suspicious for torn chordae tendineae versus ruptured papillary muscle (Figure ). Subsequently, an urgent transesophageal echocardiogram (TEE) was performed and showed severe eccentric MR (Figure ) associated with SAM (Figure ) of a structurally normal mitral valve and no evidence of left ventricular or septal hypertrophy. The peak gradient was measured to be 50 mmHg across the left ventricular outflow tract (LVOT) (Figure ).
Following these studies, he required treatment with fluid resuscitation and phenylephrine infusion to support his blood pressure. Over the course of 12 hours, the patient received four liters of normal saline with an improvement in his hemodynamics. His subsequent physical examination was negative for a systolic murmur and showed no new cardiac findings. A limited TTE was repeated and showed no evidence of SAM (Figure ) or MR (Figure ), and no dynamic LVOT obstruction at rest. A cardiac MRI did not show delayed gadolinium enhancement to suggest myocarditis or a scar. The study did show a mild increase in the mid-inferior and basal anterior septal thickness to 15 mm without a resting LVOT obstruction.
On the second day of hospitalization, the patient was started on a low-dose beta blocker, which he tolerated well. The remainder of his stay was uncomplicated, as he remained asymptomatic with a resolution of the lab abnormalities. |
pmc-6104908-1 | An 88-year-old man was admitted to our facility with altered mental status, hypotension (blood pressure range: 71-84/47-57 mmHg in the right arm supine position), fever (104oF), and tachycardia (heart rate: 140-150 beats/min) on arrival at the emergency room. Prior to admission, he was on hemodialysis for the past three months for end-stage renal disease secondary to rapidly progressive glomerulonephritis (has a right permacath). He was receiving intermittent heparin flushes along with dialysis to maintain the patency of the extracorporeal circuit. Other significant past medical history included a splenectomy in 2007. Clinical manifestations, imaging tests, and blood cultures suggested septic shock secondary to Streptococcal pneumonia. The patient was started on meropenem and vancomycin. A left internal jugular catheter and arterial line (in the right upper extremity) were placed for fluid resuscitation and blood pressure monitoring, respectively, and the patient was managed per surviving sepsis guidelines. On day three of hospitalization, the patient started to complain about a right-hand pain at the site of the arterial catheter. The physical examination was remarkable for a swollen and cyanotic right upper extremity, especially the second and third fingers (Figure ), with a barely palpable radial pulse compared to the left side. Arterial Doppler of the upper extremities was obtained, with findings indicative of significant right-sided arterial insufficiency. Further evaluation by venous duplex ultrasound identified a massive thrombus in the axillary, brachial, and basilic veins of the right arm with the solely spared ulna vein being hugely engorged (Figures -).
We considered the possibility of catheter-induced venous thrombosis, sepsis-associated disseminated intravascular coagulation and heparin-induced thrombocytopenia as working diagnoses. Given the suspicion of heparin-induced thrombocytopenia, we discontinued heparin immediately while the patient’s peripheral smear and coagulation cascade were investigated. Although the patient had low platelets (Table ), prolonged prothrombin time (16 (normal: 11-13 sec)), activated partial thromboplastin time (63 (normal: 25-35 sec)), elevated fibrin degradation products (>40 (normal: <10 mcg/ml)), which were suspicious for sepsis-related disseminated intravascular coagulation; normal factor VII (77 (normal: 50-150%)), high VIII levels (192 (normal: 50-150%)), normal haptoglobin (163 (normal: 36-195 mg/dl)), mildly decreased hemoglobulin (range: 12.1-12.9 (normal:13.5-17.5 g/dl)), and the presence of very few schistiocytes (<0.5%) on a peripheral smear made disseminated intravascular coagulation less likely. Laboratory data were remarkable for a significant drop in the platelet count from 234*109/L (on initiation of hemodialysis) to 44*109/L (the day of hospital admission) over the past three months. Based on the 4T score, heparin-induced thrombocytopenia was highly suspected and argatroban was initiated at 1 mg/kg/min. Vascular surgery consultation was obtained to address the gangrene in the second and third digits of the right upper extremity. However, considering his critically septic situation with multiple morbidities, a decision was made not to proceed with invasive maneuvers. On hospital day four, heparin-platelet factor 4 (PF4) antibodies (1.67 (normal: <0.4), heparin inhibition: >50%), and serotonin release assays returned positive (using enzyme-linked immunosorbent assay), confirming heparin-induced thrombocytopenia. On hospital day eight, repeated venous duplex demonstrated normal compressibility and spontaneous flow in the vein of the right upper extremity. The platelet count recovered and no further thrombotic complications were observed. Though we were able to manage the patient’s advanced gangrene with argatroban, his second and third fingers were amputated in the end. |
pmc-6105144-1 | This 30-year-old, previously healthy male patient collapsed during his office work after complaining of severe headache, became hemodynamically unstable and was intubated and brought to the emergency room. There was no history of trauma. A computed tomographic (CT) examination of his body showed a massive retroperitoneal and subarachnoid hemorrhage (SAH) (Hunt and Hess IV, Fisher III) (Fig. a, b). The laparotomy showed a rupture of the splenic artery, hepatic and splenic lacerations and fragile abdominal vessels. He underwent emergent splenectomy and external ventricular shunting. Digital subtraction angiography (DSA) of the cervical and intracranial vessels 3 days after the initial event showed remnants of previous dissections of both internal carotid arteries (ICAs, Fig. c, d). On the middle section of the basilar artery (BA) a small blister aneurysm was recognized (Fig. e). Only 13 days after this first DSA examination a second SAH occurred (Fig. f) and was due to a large saccular aneurysm of the basilar trunk (Fig. g). The second DSA examination now showed a large dissecting aneurysm, which had developed from the previous blister aneurysm of the basilar artery (Fig. h). This aneurysm was partially occluded with coils and covered by a flow diverter (Fig. i). For this procedure the patient received 500 mg acetylsalicylic acid (ASA) intravenous (IV) and 180 mg ticagrelor per os (PO) together with a body weight adapted bolus of eptifibatide IV. The aneurysm was treated with coiling (2 × Deltamaxx, Codman) and flow diverter (FD) implantation (1 × p64, phenox). Complete coverage of the dissected segment of the basilar artery, including the orifice of the aneurysm was achieved. This procedure was well tolerated.
Based on the results of Multiplate and VerifyNow response tests, 1 × 500 mg ASA and 2 × 180 mg ticagrelor, both PO daily, were required to maintain sufficient platelet function inhibition due to thrombocytosis after splenectomy.
The patient was kept on dual antiplatelet therapy with ASA and ticagrelor for one year. The dosage was reduced stepwise during the course of the year while maintaining sufficient platelet function inhibition, monitored by repeated Multiplate and VerifyNow response tests to 1 × 100 mg ASA and 2 × 90 mg ticagrelor, both PO daily. Furthermore, the patient was treated with low molecular weight heparin for 6 weeks after the treatment, dexamethasone and etoricoxib for 6 weeks.
The course was further dominated by various issues like small bowel perforation, frontal subdural hematoma following ventricular shunting, revision laparotomies etc.
The patient recovered with a Barthel index of 90 five months after the clinical onset despite the fulminant beginning and course of his disease and a variety of subsequent abdominal complications. DSA of the cervical and cranial vasculature 11 months after the clinical onset confirmed the complete obliteration of the dissecting basilar artery aneurysm, with an unchanged appearance of the remaining vessels (Fig. j).
The histologic specimen of the splenic artery showed an atypical architecture with loss of mediocytes, cystic degeneration, mucoid degeneration of lamina media, frequent rupture of internal elastic lamina, submedial bleeding and focal dissection (Fig. ).
The presumptive diagnoses of the underlying vascular disorder include vascular Ehlers–Danlos syndrome, Loeys–Dietz syndrome, cystic medial necrosis Erdheim–Gsell and—possibly—segmental arterial mediolysis. The genetic examination revealed a heterozygotic mutation of the COL3A1 gene, which is not described so far but most likely pathogenic. |
pmc-6105336-1 | A 3-year-old boy presented to an outside hospital with a 5-day history of progressing respiratory distress and retching. The initial chest X-ray showed a left-sided tension pneumothorax with mediastinal shift and the suspicion of bowel loops in the left lower hemithorax (
). Therefore, the patient was transferred to our institution.
On admission, he showed severe dyspnea, a temperature of 39.5°C and tachycardia of 200/min. After immediate endotracheal intubation, a thoracic computed tomography (CT) scan was performed, which confirmed a left-sided enterothorax with mediastinal shift (
). A left-sided chest tube was inserted, which drained a fluid that was initially considered to be old blood. Due to the sudden onset of symptoms and a normal chest X-ray which was available from the age of 1 year (
), a diaphragmatic rupture was considered as a differential diagnosis. The boy was therefore taken to the operation room (OR) immediately. On diagnostic laparoscopy, a left-sided Bochdalek hernia was detected with herniation of the small intestine, spleen, and stomach into the chest (
). Bile-stained fluid was found in the thorax and abdomen. After repositioning of the herniated organs into the abdomen, a gastric perforation at the lesser curvature was detected (
), explaining the pneumothorax. The surgeon felt that the gastric perforation could not be closed safely laparoscopically; therefore, a conversion to laparotomy was performed with closure of the gastric perforation and repair of the CDH with interrupted stitches. After extubation on the fourth postoperative day, a retrovesical abscess was drained 30 days after the surgery. Due to a gastroparesis, the boy showed a prolonged recovery and was finally discharged after 4 to 5 weeks in good condition. After a follow-up of 2 years, the boy is asymptomatic and is doing well. |
pmc-6105357-1 | A 51-year old man presented with one-month history of chest pain. There was no history of any surgery or trauma. Family history was unremarkable. Thoracic computed tomographic (CT) scan revealed an ovoid soft tissue mass in the left posterior costophrenic angle, measuring about 4.3 cm×2.6 cm×5.8 cm (). The mass was resected under VATS, intraoperatively, it was found that the mass was closely located to the diaphragm; initially it was diagnosed as neurogenic tumor of the mediastinum but the final pathology was bronchogenic cyst (). The operative course was uneventful and a chest tube was inserted through the camera port at the 7th intercostals space midaxillary line. Nothing special was noted on the first day after surgery, however, on the second day the patient with two episode of hypotension which was treated by fluid expansion since there was no evidence of active bleeding from the chest tube. Suddenly, patient presented with hemorrhagic shock and cardiac arrest as evident of gush of blood from the chest tube, resuscitation and stabilization was done and the patient underwent emergent thoracotomy.
After clearing the blood clots inside the chest, pericardium was distended by accumulated blood and further inspection revealed active bleeding coming from 3 mm hole on the pericardium. The pericardium was opened to relieved cardiac tamponade. The bleeding was found originating from injured obtuse marginal artery of left coronary artery. Because the injury was at the distal end of the obtuse marginal artery, it was directly closed with 4-0 prolene (). The patient successfully weaned from ventilator 2nd postoperative day, and finally discharged from the hospital. |
pmc-6105913-1 | An 82-year old man with diabetes and end-stage malignant lymphoma, who had chosen home medical care treatment with 20 mg/day of prednisolone, experienced a gradual decline in his activities of daily living (ADL)and couldn′t walk around well. He often fell down and injured himself, and came to us complaining of a severe ache on his right hip after falling down (day 0). He was hospitalized for physical examination. After admission, abscess with subcutaneous fluid was observed on his left arm (). The abscess was drained out through a syringe. A filamentous fungus from the subcutaneous fluid was detected on Gram staining (). Laboratory findings revealed white blood cell counts of 5900/μl (normal range: 3900–9800/μl) (high level Neutrophil 83%), CRP levels of 2.14 mg/dl (normal range: 0–0.03 mg/dl), CPK levels of 13 IU/l (normal range: 50–200 IU/L), IgM levels of 7 mg/dl (normal range: 35–220 mg/dl), IgG levels of 707 mg/dl (normal range: 870–1700 mg/dl), HbA1c levels of 7.6% (normal range: 4.6–6.2%), and (1→3)- β-D glucan levels of 177 pg/ml (normal range: 0–20 pg/ml). X-ray scans of his chest and left arm were normal. The culture plate showed a dark black colony in a potato dextrose agar medium and a whitish colony in the CHROMager Candida medium on one surface at 25 °C for 7 days (day 7) (). Moreover, both agars showed green colonies on the opposite sides (). DNA extracted from the colony was processed by PCR using the Fungal rDNA (ITS1) PCR Kit Fast (Takara Bio, Tokyo, Japan) (). The resulting sequence was compared with sequences of type strains reported in GenBank using the Basic Local Alignment Search Tool (BLAST) algorithm. The PCR products were confirmed to be of S. aurantiacum of ITS1 identified at 100% with the type strain of the species CBS 117423. We performed skin puncture of subcutaneous abscess twice, and skin symptom had been recovered without using antifungal drugs. |
pmc-6106708-1 | A 75-year-old man with a history of multi-organ sarcoidosis, for which he received corticosteroid therapy (methylprednisolone, 4 mg daily) in the last two years, presented with fatigue, dyspnea, and lower limb edema and pain (day 0). He also suffered of diabetes mellitus and chronic renal failure. Over the last months, he noticed fever for which more hospital admissions were required. During its last hospitalization (on day -45), he experienced a bloodstream infection caused by Pseudomonas aeruginosa, which physicians successfully treated with levofloxacin. A chest x-ray revealed pulmonary infiltration with lymphadenopathy, while a chest CT revealed multiple nodules within the lung parenchyma, without pleural effusion, which physicians attributed to an evolving pulmonary sarcoidosis picture. Lung cytology examination did not show abnormal findings. For this reason, physicians increased the methylprednisolone dosage to 16 mg daily.
On examination, the temperature was 36.7 °C (98 °F), while prominent laboratory values included lymphocytopenia of 900 cells/µL, creatinine of 1.73 mg/dL, C-reactive protein of 83 mg/L, and procalcitonin of 2.5 ng/L. The last two values rapidly increased to 160 mg/L and 14 ng/mL, respectively. Bacterial bloodstream infection was suspected and broad-spectrum antibiotic therapy with meropenem and teicoplanin was initiated. Because of his worsening functional status, physicians decided to transfer the patient to the ICU, where he was intubated. On day +3, a tracheal aspirate fluid culture yielded Candida albicans, whereas a blood culture was positive for yeasts at the microscopic Gram-stain observation. Based on these findings, the patient immediately initiated antifungal therapy with fluconazole (400 mg daily).
On day +5, the yeast isolated from the patient’s blood was identified as C. neoformans, and the serum positive titers for CrAg (≥1:4096) confirmed disseminated cryptococcal disease. Physicians did not perform lumbar puncture to rule out asymptomatic CNS involvement, because they judged it as contraindicated by the worsened patient’s conditions. Anyway, physicians changed fluconazole to liposomal amphotericin B (80 mg daily) on day +6. Despite appropriate institution of antifungal therapy, the patient died for septic shock on day +10.
We initially identified the patient’s blood isolate as C. neoformans by the automated VITEK® 2 system (bioMérieux, Marcy-l'Étoile, France) using the YST ID card, which contains biochemical/enzymatic substrates for rapid and accurate identification of a broad range of pathogenic yeasts, including 5 Cryptococcus species (C. albidus, C. laurentii, C. neoformans, C. terreus, and C. uniguttulatus). This result was communicated to the physician for a prompt use of it. Subsequently, we confirmed the isolate’s identification by the MALDI (matrix-assisted laser desorption ionization) BioTyper® system (Bruker Daltonics, Bremen, Germany) according to the protocol previously developed by us . Briefly, a 1-µL aliquot of the protein extract sample obtained from the isolate was spotted onto a MALDI target plate and was subjected to measurements with a microflex LT mass spectrometer (Bruker Daltonics). Spectra from sample’s triplicates were generated and used for pattern matching against the UCSC yeast database (an in-house “fast” yeast library purposely created with a fast sample preparation procedure) , using the BioTyper software package (version 3.1.66). According to criteria proposed by the manufacturer’s (log(score) values, ≥ 2.0 for identification at the species level; ≥ 1.7 and ≤ 2.0, for identification at least at the genus level, and values < 1.7, for identification not reliable), we successfully identified the patient’s isolate as C. neoformans based on a log(score) of 2.427. Additionally, hierarchical cluster analysis was conducted with the integrated statistical tool Matlab 7.1 of the BioTyper software package, to generate a similarity dendrogram based on graphical distance values between the present study’s isolate and other studies’ isolates . This analysis showed that the patient’s isolate separated with other isolates within the C. neoformans var. grubii (serotype A) VNI (genotype) cluster. Antifungal susceptibility testing of the patient’s isolate was performed as previously described , using the Sensititre YeastOne (Thermo Fisher Scientific, MA) plate. The concentrations of the antifungals ranged from 0.12 to 8 μg/mL for amphotericin B, 0.06–64 μg/mL for flucytosine, 0.015–8 μg/mL for anidulafungin, 0.008–8 μg/mL for caspofungin, micafungin, voriconazole, and posaconazole, 0.12–256 μg/mL for fluconazole, and 0.015–16 μg/mL for itraconazole. Apart from echinocandins — anidulafungin, caspofungin, and micafungin — to which C. neoformans is considered intrinsically resistant, all antifungals showed low minimum inhibitory concentration values. Using the epidemiological cut-off values established for C. neoformans VNI and fluconazole (8 μg/mL), itraconazole (0.5 μg/mL), posaconazole (0.25 μg/mL), and voriconazole (0.25 μg/mL) , the patient’s isolate was defined as wild-type for the susceptibility to azole antifungal agents. |
pmc-6106733-1 | A 10-year-old boy was admitted to the Department of Ophthalmology on 2009–2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. Over the past ten years, neither the inability of the patient to fully open his eyes nor his ocular hypertelorism had improved. He underwent a first operation in our department in 2009 and a second in 2015. The parents were healthy, and their marriage was non-consanguineous. The parents denied a family history of pertinent causes, such as genetic abnormalities or infections.
In the original ophthalmic examination, the palpebral fissure length was 19 mm on the right side and 20 mm on the left side, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were − 1 mm, and the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left. The patient had no conjunctival congestion, a transparent cornea, and a normal retina (Fig. and ). The patient’s visual acuity was 20/40 in the right eye and 20/32 in the left eye. An orbital CT scan revealed symmetrical line sag in the bilateral anterior maxillary sinuses, increased density in the bilateral maxillary sinuses, no obvious abnormal orbital structures and no bone destructions (Fig. -).
The results of a physical examination revealed that the patient had developed bilateral limb deformities in his hands, wrists, elbows and shoulders. The bilateral interphalangeal finger joints were flexed and could not be extended, and the metacarpophalangeal joints and wrists exhibited a limited range of motion. The patient could not clench his fists or fully extend his elbows, which exhibited subluxation (Fig. -). He could not fully extend his shoulders, and he exhibited square shoulders and weak adduction (Fig. ). He had worn hearing aids (prescribed by a local hospital to treat his sensorineural hearing loss) for 9 years. No intellectual disability was detected during the examination.
The patient wanted to achieve symmetrical and natural-looking cosmetic results. The ophthalmologists performed inner canthus moulding combined with blepharoptosis correction in 2009. The surgical procedure included medial canthoplasty performed using the Mustardé method and frontal muscle flap suspension to correct the ptosis. Postoperatively, the palpebral fissure length was 28 mm on the right and 27 mm on the left, both palpebral fissure height was 8 mm, the inner intercanthal distance was 40 mm, and both of the upper margin reflex distances were 3 mm (Fig. and ).
The results of the first operation were not maintained. The palpebral fissure and inner intercanthal distances regressed. The obtuse deformity of the inner canthus remained. The height of the lateral palpebral fissure remained lower than normal, and both the upper and lower lachrymal points were closed. An ophthalmic examination performed in 2015 revealed the patient’s visual acuity was 20/20, the horizontal fissure length was 21 mm on the right and 22 mm on the left, both palpebral fissure height was 6 mm, the inner intercanthal distance was 48 mm and both of the upper margin reflex distances were 2 mm (Fig. and ).
To further improve the patient’s appearance, the ophthalmologists performed an inner eye canthus Y-V-plasty with frontal flap suspension in 2015 when the patient was 16 years old. The inner canthus deformity was corrected after the second operation. The horizontal fissure length was 28 mm on the right and 28 mm on the left, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm (Fig. and ). These results were stable after more than 1 year. |
pmc-6106746-1 | A 60-year-old, para VI, Ethiopian woman presented with a progressively increasing vulvar swelling of 25 years’ duration. She developed a dull aching pain 3 months previously with difficulty of micturition and dysuria. There was no discharge or bleeding. She had undergone genital cutting and sewing during her childhood. Her medical and surgical histories were unremarkable. She is unemployed. There was no similar history of illness in her family. She neither smokes tobacco nor drinks alcohol. She had not visited any other health care facility for the complaint and had not been on any medication prior to diagnosis.
On physical examination, her vital signs were: pulse, 82; respiratory rate, 18; and temperature, 36 °C.
She had pink conjunctiva and non-icteric sclera; her chest was clear and resonant. Her heart sounds were all normal with no murmur or gallop. Her abdomen was soft and moved with respiration. There was no tenderness, guarding rigidity, palpable mass, or organomegaly. In her genitourinary system, there was a 18 cm by 12 cm sized, fluctuant, multi-lobulated, mobile, non-tender, right labia majora mass involving the mons pubis and stretching the ventral skin of the urethra (Fig. ). The overlying skin was normal. The two labial edges were fused at their cranial part. There were no abnormal findings in her vagina, cervix, and uterus on speculum and digital examinations. The inguinal lymph nodes were not enlarged.
Musculoskeletal and neurological examinations were unremarkable.
Laboratory tests results were: hemoglobin, 13 gm/dl; white blood cell count, 6500/mm3; platelet count, 250,000; and blood group/Rh B+. Urine analysis was non-revealing; a pelvic ultrasound scan showed atrophied uterus with no pelvic mass.
She was counseled for surgical removal (excision) and informed consent was obtained. Under spinal anesthesia, a urinary Foley catheter was inserted; the vulvar mass was excised successfully without any significant bleeding or injury to the adjacent structures. Her postoperative course was smooth with healed wound site on postoperative day 7 checkup visit. She had her second postoperative visit 1 month after the surgery and she had no genitourinary complaints with healed vulvar wound site. A histopathologic examination report was consistent with epidermoid cyst of the vulva. |
pmc-6106748-1 | Case 1: a 10-year-old girl, with a history of distal radius fracture 3 years earlier, presented with a firm, nontender swelling in the same right distal forearm. Her wrist function was unimpaired. As shown in Fig. , X-ray examination revealed a large lobulated, compartmentalized, osteolytic, expansive tumor mass in the metadiaphysis of the distal radius. On MRI, the tumor measured 35 × 46 × 47 mm and had a well-defined boundary, but no sclerotic margin. Starting from the distal radius, there was cortical destruction, an extensive soft tissue component, and impression and bowing of the distal ulna. There were no imaging signs of invasive growth, necrosis or fluid-liquid mirrors. Bone scintigraphy did not show increased uptake at the location of the lesion. These imaging features were consistent with a destructive tumor that originated from the distal radius, grew slowly, and then broke through the cortex of the radius into the adjacent soft tissue. The tumor was excised intralesionally. Grossly, the largest tumor fragment measured 6 × 5 × 3 cm. On cut surface the tumor tissue was pale and fibrous.
Tumor histology was reminiscent of desmoid fibromatosis and consistent with desmoplastic fibroma, as it showed a lesion composed of bundles of moderately cellular, collagenous tumor tissue with fibroblastic spindle cells with oval, monomorphic nuclei with bland, finely granular chromatin, small nucleoli and ample cytoplasm. Mitoses were not found (Fig. a).
Cytogenetic analysis revealed a normal female karyotype in 18 cells, with trisomy 8 detected in 2 cells (Fig. b).
The cancer hotspot NGS analysis revealed a CTNNB1 hotspot class 5 pathogenic variant in exon 3: p.Ser45Phe and, using IHC, the fibroblastic tumor cells showed more than focal nuclear staining for beta-catenin (Fig. c), in support of a diagnosis of desmoplastic fibroma. |
pmc-6106748-2 | Case 2: a 24-year-old woman presented with progressive pain in the right hip region that had existed for 1 year. X-ray images showed an osteolytic tumor in the metadiaphysis of the right distal femur with cortical bone destruction on the dorsolateral side. The central part of the tumor had no matrix calcification. On MRI, the tumor destroyed the cortex and extended to the surrounding soft tissues. There was strong tumor enhancement after administration of intravenous gadolinium (Fig. a). A resection of the right distal femur was performed. The tumor in the distal femur measured 12 × 4 cm. On cut surface the tumor was pale and fibrous. There was extension to surrounding soft tissue (Fig. b).
Tumor histology strongly resembled the desmoplastic fibroma diagnosed in case 1, however, with some differences. As shown in Fig. a, this tumor also consisted of bundles of moderate cellular tissue, with fibroblast-like, spindle cells in abundant collagenous stroma. However, there was evidence of invasive growth in trabecular bone and surrounding skeletal muscle tissue. Although nuclear chromatin was bland, few normal mitoses were found. Osteoid or trabecular bone was absent.
As depicted in Fig. b, cytogenetic analysis showed an abnormal karyotype: 47~49,XX,del(13) (q12q32),+ 1~2r,+1~2mar,1dmin [cp17]/46,XX [2]. This encompasses an interstitial deletion of the long arm of chromosome 13 (q12q32), consistent with heterozygous loss of the RB1 tumor suppressor gene. With cancer hotspot NGS analysis we found amplification of CDK4 (NM_000075.3) and an imbalance of the RB1 gene on chromosome 13.
With IHC, tumor cells exhibited strong nuclear staining for CDK4 (Fig. c) and moderate nuclear staining for SATB2. RB1 expression was heterogeneous, not completely lost.
In this case a conclusive diagnosis of DF-LGOS could be made, based on histologic features (an invasive fibroblastic tumor with mitotic activity), karyotyping (heterozygous loss of RB1) and molecular genetics/IHC (CDK4 amplification). |
pmc-6106801-1 | A 32-year-old primigravida presented to the Emergency Department (ED) during her 7th week of gestation with complaints of two weeks of progressively worsening intermittent lower abdominal pain. She denied any visual disturbances, headache, nausea, vomiting, constipation or diarrhea, vaginal bleeding, or uterine contractions. Her medical history was significant for a pituitary microadenoma (6.5 × 6 × 5 mm) diagnosed 12 months prior. At that time her serum prolactin was slightly elevated at 35 ng/mL (Ref: 3.34 - 26.72 ng/mL); however, other pituitary hormones were within the normal limits. There was no family history of parathyroid disease, hypercalcemia, nephrolithiasis, or other endocrinopathies except for hypothyroidism affecting her mother. Admission medications included daily prenatal vitamins.
On presentation to the ED, her review of systems was otherwise negative with no genitourinary or gastrointestinal or neurological symptoms. Her vital signs were within normal limits. Her physical examination was unremarkable.
Her blood tests demonstrated hypercalcemia (serum calcium 12.2 mg/dL [Ref: 8.6-10.3 mg/dL], ionized calcium 1.67 mmol/L [Ref: 1.15 - 1.33 mmol/L]), and hyperparathyroidism (PTH 135 pg/mL [Ref: 12-88 pg/mL]). Her serum albumin was 3.2 g/dL (3.5-5.7 g/dL), phosphorus 2.2 mg/dL (Ref: 2.5-5 mg/dL), and magnesium 1.5 mg/dL (Ref: 1.9-2.7 mg/dL). Other relevant labs included a 24-hour urinary calcium of 712 mg/24 hour (Ref: 100-300 mg/24 hr), 25-hydroxyvitamin D 18.5 ng/mL (Deficient if <20 ng/mL), 1,25-dihydroxyvitamin D 94.9 pg/mL (Ref: 19.9-79.3 pg/mL), and thyroid stimulating hormone (TSH) 0.43 uIU/mL (Ref: 0.45-5.33 uIU/mL). Renal ultrasound was unremarkable with no nephrolithiasis or hydronephrosis. Thyroid ultrasound revealed a 28 × 11 × 11 mm hypervascular, heterogeneous mass along the posterior margin of the left thyroid gland. A fine needle aspiration from the mass demonstrated scant cells and was reported as benign cytology. The FNA needle washout resulted in high levels of parathyroid hormone.
She was diagnosed with primary hyperparathyroidism and started conservative treatment with IV fluid and magnesium supplements with improvement in her serum calcium levels (11.4 mg/dL). Unfortunately the patient subsequently became symptomatic with nausea, vomiting, and maintaining serum calcium levels of 12 mg/dL despite sufficient hydration. She was started on aggressive hydration (lactated ringers at 125 ml/hr followed by normal saline at 125 ml/hr) continuously until the day of surgery. She received a total of 23 L of intravenous fluids over 10 days; however the serum calcium ranged between 10.6 and 11.6 mg/dL with most values at >11 mg/dL. Just prior to surgery, her serum calcium level was 10.7 mg/dL and her ionized calcium level was 1.38 mmol/L. She underwent left superior parathyroidectomy and the pathology was consistent with a 3.0 × 1.8 × 1.2 cm parathyroid adenoma (Figures and ). Intraoperative PTH measurement was not performed to reduce the time of anesthesia. Following surgery, her serum calcium and PTH levels normalized. She did not develop hypocalcaemia after surgery. In subsequent follow-up weekly visits after discharge, her serum calcium and PTH levels have been within the normal limits.
With her history of pituitary adenoma and a large parathyroid adenoma, multiple endocrine neoplasia type 1 (MEN1) was considered. However, direct DNA testing for MEN1, RET, AIP, and CDKN1B gene mutations were negative. |
pmc-6106803-1 | A 59-year-old woman presented in July 2017 with extensive bleeding from her ileostomy site. Her history included locally advanced bladder cancer for which she had undergone pelvic exenteration and ileal conduit formation in November 2015. At that time, she had a known primary lung adenocarcinoma as well, but had no known liver metastases or other liver disease. Intravenous contrast-enhanced CT of the abdomen and pelvis performed in January 2016 raised the possibility of cirrhosis; however this was not biopsy-proven. In April 2016, she began to notice intermittent bleeding from her stoma which was initially thought to be mechanical tissue breakdown from the stomal flange. Concern for hepatic encephalopathy was raised when she had her first episode of confusion in December 2016. At that time CT of the abdomen and pelvis demonstrated strong radiographic suspicion for cirrhosis together with prominent vessels surrounding the urinary diversion site suspicious for portal hypertension. Despite not having a tissue biopsy, she was diagnosed clinically with cryptogenic cirrhosis in May 2017 during a hospitalization for fatigue, anasarca, and altered mental status. An upper endoscopy performed in June 2017 demonstrated portal hypertensive gastropathy but no esophageal varices.
Upon presentation to the Emergency Department in July 2017 she had significant hemorrhage from her stoma resulting in hemodynamic instability. She was anemic with a hemoglobin of 8.3 g/dL that improved to 9.4 g/dL after blood transfusion, but gradually fell to 8.2 g/dL by the time of the procedure. Her MELD score was retrospectively calculated to be 19 at presentation, with an INR of 1.5 and total bilirubin of 4.3 mg/dl. She was emergently taken to the interventional suite for embolization with or without portal venous decompression via portosystemic shunt formation. A review of intravenous contrast-enhanced CT imaging showed extensive venous varices around the stoma involving the abdominal wall with a large draining varix arising from the portal system, likely the inferior mesenteric vein []. Also visualized was a variceal connection to the right common femoral vein. The portal and mesenteric veins were noted to be patent. Multiple approaches were considered for this patient. The transjugular intrahepatic portosystemic shunt (TIPS) and transjugular transhepatic approach with portosystemic shunt creation offered the benefit of portal decompression; however, the patient's recurrent hepatic encephalopathy was felt to be a relative contraindication. Transjugular transhepatic approach without formation of a permanent portosystemic shunt was also considered, since it would eliminate the risk of progressive hepatic encephalopathy. Percutaneous transhepatic approach would also eliminate the risk of progressive hepatic encephalopathy but was believed to pose increased risks of hepatic injury and bleeding. Transsplenic venous access to the portal venous system was considered as a viable, albeit technically challenging, option. The superficial nature of the abdominal wall stomal varix presented a less challenging and seemingly more time-efficient approach for access and was chosen as the target.
Using a micropuncture kit, the peristomal varix was directly accessed under ultrasound guidance and a micropuncture sheath was placed. Venography was performed and showed a large variceal collateral conglomerate around the stoma with variceal anastomosis with the right common femoral vein []. A wire was advanced and a 5F sheath was secured over the wire. A Kumpe catheter was introduced and advanced into the distal intra-abdominal aspect of the large draining varix. Catheter position was confirmed with repeat venography, and multiple coils were deployed []. This was followed by Gelfoam embolization. Postembolization venography showed sluggish flow in the draining varix with multiple filling defects within the visualized collaterals consistent with embolization []. The coils remained well-situated after placement and there was no evidence of migration. To ensure that there was no filling from the systemic venous system, the right superficial femoral vein was then accessed with a micropuncture kit and a femoral-iliac venogram and IVC venogram were both performed. These demonstrated brisk flow from the right common femoral vein through the iliac system and into the IVC. There was no filling of the stomal variceal collaterals visualized []. Hemostasis was thereby achieved, and the patient became hemodynamically stable shortly thereafter. At 6-month follow-up time no further imaging had been performed and the patient had not had any further episodes of hemorrhage from the ileostomy site |
pmc-6106815-1 | A 66-year-old Japanese man with a history of diabetes, chronic kidney disease, and angina was admitted to our hospital with a 2-week history of dyspnea and leg edema. He also had a history of end-stage renal failure secondary to diabetic nephropathy and had been undergoing peritoneal dialysis. He had received living-donor kidney transplantation from his wife 7 years earlier, in which an end-to-end anastomosis of the donor renal artery to the patient’s left internal iliac artery was performed. After the transplantation, he was able to discontinue dialysis and his renal function was stable with an estimated glomerular filtration rate (eGFR) of approximately 40 mL/min/1.73 m2. A few months before admission to our hospital, his blood pressure control gradually deteriorated, and he experienced acute deterioration in renal function after the administration of an angiotensin II receptor blocker (ARB). Antihypertensive medication on admission included 2.5 mg of carvedilol, 80 mg of nifedipine, and 2 mg of benidipine. On physical examination, he exhibited wheezing in the chest and pitting edema in the bilateral limbs. His body temperature was 36.8 °C; blood pressure, 166/71 mmHg; regular pulse rate, 91 beats/min; and oxygen saturation, 93% (without oxygen administration). Laboratory findings showed acute exacerbation of renal function with an eGFR of 24 mL/min/1.73 m2 and an elevation of the brain natriuretic peptide level (483.3 pg/mL; normal range: < 18.4 pg/mL). Electrocardiography showed the strain pattern. Echocardiography revealed concentric left ventricular hypertrophy as well as moderate aortic stenosis with an aortic mean gradient of 11 mmHg, a valve area of 1.12 cm2, and an ejection fraction of 68%. The severity of aortic stenosis had been followed up echocardiographically once yearly, showing no significant progression at this hospitalization. Plain chest radiography and computed tomography of the chest showed a bilateral infiltrative shadow, suggestive of pulmonary edema (Fig. ). The patient’s diagnosis was acute congestive heart failure with pulmonary edema. A vasodilator and loop diuretics were administered following admission, and the patient’s symptoms resolved quickly. Because of the worsened blood pressure control and renal function deterioration caused by ARB, transplant renal artery stenosis was suspected. Magnetic resonance angiography was performed and it revealed the bending and narrowing of the transplant renal artery (Fig. ). On ultrasound examination, the peak systolic velocity of the narrowing part was observed to be above 2 m/sec. The peak systolic velocity ratio could not be determined owing to poor echographic imaging of the proximal non-stenosed part. A 5-French guiding catheter (Destination®, Terumo, Japan) was inserted into the left common iliac artery via the right femoral artery and an angiography revealed significant stenosis in the transplant renal artery (Fig. ).
In addition, pressure gradient measurement was conducted using a 0.014-inch pressure wire (Aeris®, Abbott, USA). The mean pressure was 96 mmHg proximally and 87 mmHg distally with a resting Pd/Pa ratio (ratio of mean distal to lesion and mean proximal pressures) of 0.90, and the peak-to-peak systolic pressure gradient was 40 mmHg without hyperemia. Based on these findings in addition to the clinical course, such as worsening of blood pressure control and acute renal function deterioration after the administration of an ARB, we assessed that the stenosis was hemodynamically significant. Therefore, we did not perform hyperemic evaluation of the stenosis. Intravascular ultrasonography (IVUS) revealed shrinkage of the vessel in the stenotic area, with a diameter of 5 mm, suggestive of the anastomosis site (Fig. ). Pre-dilation using a 4-mm balloon, implantation of a 6-mm self-expandable stent, and post-dilatation using a 5-mm balloon were sequentially performed (Fig. ). Thereafter, moderate stenosis persisted angiographically (Fig. ). However, we had concerns that too much dilatation would increase the risk of vessel dissection or perforation because the lesion might be at the anastomosis site. We repeated the resting pressure gradient measurement. The mean pressure proximally was 101 mmHg and the pressure distally was 96 mmHg, with a resting Pd/Pa ratio of 0.95, and the peak-to-peak systolic pressure gradient was 20 mmHg. This was thought to be acceptable as the endpoint of TRAS-EVT. Moreover, the self-expandable stent was expected to further expand in the remote phase. Therefore, we concluded the procedure. After the procedure, the peak systolic velocity in the stenosed part based on an ultrasound examination had dropped to 1.45 m/sec. Renal function and blood pressure control improved, which resulted in the preservation of graft function. Moreover, antihypertensive medication could be significantly reduced; carvedilol 1.25 mg and nifedipine 40 mg. Four months later, a follow-up angiography demonstrated no restenosis and the pressure gradient had dropped to 15 mmHg. |
pmc-6106848-1 | A 35-year-old gravida five para four mother with gestational age of 39 weeks and 3 days, dated from reliable LNMP, is admitted to Madawalabu general hospital. She is referred from health center with a diagnosis of twin gestation for better management. Her antenatal follow-up was at health center five times. She finished her immunization against tetanus and was taking her iron supplementation regularly. Her blood group & Rh is AB+ and preoperative hematocrit is 30% while other tests are normal. On presentation to the hospital, she has no danger signs of pregnancy like vaginal bleeding, headache, blurring of vision, and passage of liquor. She has no pushing down pain as well. She has neither personal/family history of multiple gestations nor history of taking fertility drugs. She has no personal or family history of diabetes, obesity, hypertension, and other chronic medical illnesses.
She noticed undue enlargement of abdomen and excessive increment in fetal kicks in the last trimester. She has got difficulty in undergoing daily routines during the last one month and difficulty in walking comfortably for last two weeks. Moreover she leaves her bed only with family support for the last one week due to abdominal heaviness and significantly increased body weight. Her prepregnancy weight and height were 74kg and 170cm making prepregnancy BMI of 25.6 kg/m2 but the current weight is 98kg. The pregnancy is planned, wanted, and supported.
Upon examination, general appearance is well looking. Vital signs are BP=100/70mmHg, PR=98bpm, RR=22bpm, and T0=36.6°C. On abdominal examination, abdomen is grossly distended, SFH measures 46cm with tape meter, multiple fetal poles felt. Fetal heart beat heard at multiple sites. She has no uterine contraction. No abnormality detected in other systems. Up on scanning with obstetric U/S, there is triplet intrauterine pregnancy, two fundal placentas with two visible dividing membrane. Triplet A is breech in its presentation, with aggregate GA of 37 weeks + 4 days, EFW 2708g, and biophysical profile (BPP) of 8/8; triplet B is breech, with AGA 37 weeks + 1 day, EFW 2918 g, and BPP of 8/8; and triplet C has transverse lie, with AGA 38 weeks + 2 days, EFW 3104g, and BPP of 8/8.
With the final diagnosis of full term + triplet pregnancy + mild anemia, she was prepared for elective C/S. Lower uterine segment transverse C/S done to effect the delivery of an alive triplet sets triplet A, male weighing 2800 g, triplet B, male weighing 3000 g, and triplet C, female weighing 3200g, all of them with APGAR score of 8/10 and 9/10 at first and fifth minutes of life. The first two triplets share the same placenta weighing 600g while the 3rd female triplet has its own placenta weighing 480g but all of them having their own amniotic sac. (). Following delivery of placentas and uterine closure, the uterus became atonic for which we put on oxytocin drip and sublingual 600 μg of misoprostol. Fortunately, the uterus responded for oxytocin drip and sublingual misoprostol without requiring further management. Estimated blood loss is about 1300ml. Uterus was massaged every 15 minutes for first 2 hours. Her postop hematocrit was 24 % for which she was given therapeutic iron sulfate. Postoperative period was smooth and the mother with all the triplet was discharged on the 3rd postop day. The infants were followed for 10 months at which time no problem with physical growth is observed; rather apparent normal neurological development is seen. All of them are in good health status as well. The picture below was taken on 10th month of their life (). |
pmc-6106849-1 | A 32-year-old woman in her first pregnancy presented at 37 weeks gestation to the obstetric review centre in the late evening with a two-hour history of new onset right-sided leg pain and numbness. She was able to mobilise short distances and was otherwise well. Initially her symptoms were most suggestive of sciatica, a common complaint during pregnancy.
Her symptoms progressed rapidly over the next two hours and she reported bilateral lower limb numbness and severe shooting midthoracic back pain and was unable to move her legs. Initially she had no urinary retention or faecal incontinence. She also reported no history of trauma or any similar symptoms in the past.
She had an otherwise low risk pregnancy and there were no signs of fetal distress on arrival. Her past medical history included asthma, allergic rhinoconjunctivitis, and depression. She was a smoker and migrated to Australia from England several years earlier.
On initial examination, vital signs were normal. She was afebrile. Cardiotocograph revealed no concerns for fetal wellbeing. Her neurological examination was inconsistent but nevertheless concerning. She was found to have patchy bilateral sensory loss up to a sensory level of T10. Lower limb examination revealed reduced power bilaterally (1-2/5) across all myotomes with hyperreflexia, clonus, and upgoing plantar reflexes. Upper limb neurological examination was normal. There was no bony tenderness on palpation of her spine. Insertion of a urinary catheter five hours after presentation drained 700 ml of urine. This was suggestive of urinary retention, particularly in the context of her advanced gestation. However, she reported normal perineal sensation on catheter insertion, again inconsistent with her other symptoms and examination findings.
Due to her pregnant state, an urgent CT was not performed. An after hours MRI was not considered necessary as it was felt an acute surgical cause for the presenting signs and symptoms was unlikely. A kidney ultrasound ruled out renal stones as a cause for severe back pain.
The next morning an MRI spine was performed. This revealed a previously undiagnosed mixed intra- and perimedullary spinal cord AVM at T8 with surrounding spinal cord oedema from T6-T11 (see ). Her case was discussed with the neurosurgical team who felt she was not amenable to urgent surgical decompression or intervention based on MRI findings. A decision was made for urgent delivery to facilitate further investigation. A healthy baby girl was delivered that afternoon via caesarean under general anaesthetic. This was performed without complications.
Subsequent angiography showed a predominantly perimedullary slow flow spinal cord AVM with intramedullary extension at T8 to a compact nidus (see ). The AVM received arterial supply from the radicular branches of the right T9 intercostal artery with a branch to the anterior spinal artery from the same level. The venous drainage of the AVM was via a single caudal draining vein that extended to the left internal iliac vein with attenuation at L5/S1.
In discussion between the radiology and neurosurgical teams, it was concluded the most likely aetiology for the patient's presentation was acute rupture of the AVM at T8 secondary to venous outflow compression from the enlarged uterus onto the draining vein at the level of L5 causing high pressure within the AVM and subsequent rupture. Given the lesion was partially within the spinal cord, treatment with surgical resection would risk potential permanent paraplegia. Additionally, she was considered not a good candidate for embolisation. As such, the patient was managed conservatively in the hope that she might have at least partial recovery of her neurological function. An inferior vena cava (IVC) filter was inserted at the time of initial angiography to prevent pulmonary emboli given the relative risk of anticoagulation in the setting of recent caesarean section and recent AVM rupture.
One month after admission, the patient developed left leg swelling and was diagnosed with a left leg extensive occlusive deep vein thrombosis extending to left external and common iliac vein as far as the IVC filter. There was concern about potential obstruction of venous outflow from the AVM precipitating further rupture as well as potential clot propagation above the IVC filter, so a decision was made for mechanical thrombectomy and removal of IVC filter. She was therapeutically anticoagulated on warfarin with clexane bridging and clot progression was monitored on weekly ultrasound scans.
Given the difficulties in finding a suitable discharge destination with a newborn baby, the patient's first few months of rehabilitation were as an inpatient in a private room on the neurosurgery ward. At the time of writing this article (six months after delivery), the patient remains paraplegic to the level of T8 with urinary and bowel incontinence. At this stage, she has a guarded prognosis for recovery. |
pmc-6106901-1 | A 52-year-old woman was referred to our hospital due to progressive lower limb paralysis and general fatigue. She had been diagnosed with ONB 10 years before the referral and had undergone skull base surgery and postoperative radiation therapy against ONB. Four years after her initial diagnosis, chemotherapy with paclitaxel, carboplatin, and cetuximab was administered after completion of CyberKnife (Accuray Inc., Sunnyvale, CA) treatment against a relapsed pterygopalatine fossa tumor. Although the tumor had gradually worsened after the treatment, the patient had been followed up without treatment because of its slow rate of growth. On referral, she had a Cushingoid appearance: moon face, central obesity, and thin skin with purpura. Laboratory examination revealed hypokalemia (2.4 mEq/L) and metabolic alkalosis. Elevated cortisol level (59.6 μg/dl, range 3.5–18.4), elevated ACTH level (469 pg/ml, range 7.2–63.3), and raised pro-gastrin releasing peptide level (ProGRP; 2110 pg/ml, range 0–81) were also detected. Chest and abdominal computed tomography (CT) revealed no abnormality except for a new pulmonary nodule in the left lower lobe (Fig. ). Head and neck magnetic resonance imaging (MRI) scans showed that there were no remarkable findings in the pituitary gland, and the ONB had slightly increased in size in the right nasal cavity and the right ethmoid sinus over 3 years. Thus, the history and laboratory data appeared to be consistent with EAS, however, an obvious source was not apparent. Potassium supplement improved her symptoms, and she was planned to be admitted for further work-up and management for EAS, at a later date.
One month after the referral, she was urgently hospitalized due to acute pleuritic chest pain on inspiration. She had no high fever (36.2 °C) or any other symptoms indicating respiratory infection. Chest CT revealed left lower lobular consolidations with pleural effusion and a new pulmonary nodule in the right middle lobe (Fig. ). Laboratory results revealed elevated levels of C-reactive protein (CRP: 12.77 mEq/L, range 0.00–0.35) and β-D-glucan (77.8 pg/ml, range 0–11), but were negative for Aspergillus antigen, Aspergillus precipitating antibody, and Cryptococcus antigen test. Her HIV screening was negative. Blood and sputum culture showed no remarkable findings. As evidence for Cushing’s syndrome, a raised cortisol level (72.3 μg/dl at 6 a.m., range 3.5–18.4) and ACTH level (466 pg/ml, 7.2–63.3) were also detected. The cortisol level was not suppressed by a low-dose dexamethasone suppression test (LDDST: 1 mg dexamethasone per day for 48 h): plasma cortisol level was 59.3 μg/dl and 24 h urine cortisol level was 439 μg/day after the LDDST. The history and laboratory work-up suggested that her Cushing’s syndrome was more likely arising from EAS. The lungs were suspected as the source of ACTH due to the high level of ProGRP and progressive pulmonary consolidation with a contralateral nodule, suggesting SCLC.
Although treatment with piperacillin-tazobactam (18 g/day) for pneumonia improved her pleuritic chest pain after 5 days, the pulmonary consolidation did not resolve. Hence, we proceeded with bronchoscopy to differentiate SCLC from pulmonary infections. Histological examination of the transbronchial biopsy specimen and cytology of the bronchoalveolar lavage fluid (BALF) showed no evidence of malignancy or fungi. Two weeks later, the BALF culture was positive for Nocardia spp., identified as Nocardia cyriacigeorgica by 16S ribosomal RNA gene sequencing. Table shows the minimum inhibitory concentration of the indicated antibiotics against N. cyriacigeorgica. We used the Mueller-Hinton agar to culture N. cyriacigeorgica at 37 °C for 72 h. Susceptibility testing was performed according to Clinical and Laboratory Standards Institute document M24-A []. Oral sulfamethoxazole/trimethoprim 1920 mg (SMX 1600 mg/day, TMP 320 mg/day) improved her pulmonary lesions, as well as decreased the β-D-glucan level (Fig. ). It was decided that the SMX/TMP would be continued for more than 1 year because she was an immunocompromised host []. Treatment with metyrapone (2.25 g/day) and mitotane (0.5 g/day) improved her plasma ACTH and cortisol levels. Scintigraphy performed using Octreoscan (Mallinckrodt, St Louis, MO) as an additional investigation for the origin of the EAS, revealed strong tracer uptake consistent with the ONB (Fig. ); however, there was no uptake in the lung. Moreover, histological specimens of the ONB resected 10 years earlier showed no evidence of intracytoplasmic immunopositivity of ACTH. Therefore, this ONB may have transformed to produce ACTH over the 10-year clinical course. |
pmc-6106902-1 | A 45-year-old male patient presented with a complaint of progressive pain and soreness in the lumbosacral region persisting for more than 3 months. The pain radiated to the left thigh and perineum but did not affect walking. Magnetic resonance imaging (MRI) and computed tomography (CT) scans with and without intravenous contrast showed a tumor mass adjacent to the left side of the fifth lumbar spinous process. The tumor was located in the lower left part of the erector spinae and extended onto the fifth lumbar vertebra, the first sacral vertebra, and the iliac wing. Positron emission tomography with CT (PET/CT) showed a hypermetabolic lesion in the erector spinae adjacent to the left side of the fifth lumbar spinous process. No sites of regional or distant metastases were found. A core biopsy of the tumor mass revealed spindle-shaped cells with infiltrating inflammatory cells. Together the morphological and immunohistochemical features indicated a low-grade inflammatory myofibroblastic tumor. The expression profile based on immunostaining was as follows: overall positive for vimentin, CD34, ALK (SP8), and p53; focally positive for smooth muscle actin (SMA); sporadically positive for S-100; partially positive for CD68; and negative for cytokeratin (CK) (AE1/AE3), desmin, and CD117. The Ki-67 nuclear labeling index was 10%.
The patient reported no other symptoms. Physical examinations revealed no neuro-pathological signs or symptoms. He denied smoking, alcohol, or illicit drug usage. He also denied recent radiation or toxin exposure. He had no history of unintentional weight loss, fever, or chills. He had no family history of malignant or other chronic diseases, with the exception of a sister who had breast cancer.
The treatment plan of the case was discussed by our multi-disciplinary team including experts from orthopedics, neurosurgery, chemotherapy, radiotherapy, pathology, and radiology. Considering that the boundary of the tumor was unclear and involved the sacrum, a complete resection would be difficult. Therefore, we administered neoadjuvant radiotherapy to the affected area at a dose of DT 5000 cGy in 25 fractions to the planning target volume (PTV). After shrinkage of the tumor volume, the patient underwent complete extensive resection at 1 month after radiotherapy. Postoperative pathology confirmed that resection of a lesion measuring 7.5 cm × 4 cm × 3.5 cm achieved negative histological margins and indicated a classification of the specimen as a mesenchymal-derived malignant tumor involving the sacrum. Histologic examination of the resected tumor revealed undifferentiated pleomorphic spindle cells surrounding an area of geographic necrosis with frequent atypical mitosis. Microscopically, the morphology conformed to that of a high-grade spindle cell sarcoma consistent with UPS. The result from MDM2 amplification using fluorescence in situ hybridization was negative, and thus, lipogenesis on histology could be excluded (Additional file ). The expression profile of the UPS tissue is described in Table , and representative images of staining tumor tissue are presented in Fig. .
A postsurgical MRI scan obtained 1 month after surgery showed postoperative changes and no obvious mass in the surgical area. The patient underwent adjuvant chemotherapy with liposomal doxorubicin and ifosfamide but had to discontinue chemotherapy after 2 cycles due to intolerance of grade 3 fatigue and grade 2 nausea. At 3 months after surgery, three new lesions were discovered in the bilateral pulmonary region on a routine follow-up CT scan (Fig. ). Further radiographic imaging with PET/CT showed hypermetabolic metastases involving the erector spinae of the left posterior sacral, fifth lumbar spine, sacrum, left ilium, and twelfth thoracic vertebra, accompanied by multiple lung lesions and a suspected metastasis adjacent to the spleen (Fig. ). At this stage, the patient refused further chemotherapy.
With the standard therapeutic options exhausted, primary tumor tissue was subjected to DNA sequencing via next-generation sequencing (NGS) with an ILLUMINA Nextseq 500 (3DMedicines, Inc.). The MasterView 381 cancer-gene panel covered 4557 exons of 365 cancer-related genes and 47 introns of 25 genes frequently rearranged in 381 cancer-related genes (Additional file ). The genomic DNA was extracted with the QIAamp DNA formalin-fixed paraffin-embedded tissue kit (Qiagen) following the manufacturer’s protocol and quantified with the Qubit™ dsDNA HS Assay kit (Invitrogen). Bioinformatics analyses involved analyzing the clipped reads, which can be extracted by the tag information of bam files, which mapped the individual reads to the reference human genome (hg19) with bwa aligner v0.7.12. Candidate reads that were discordant or aligned in the same direction were filtered. Read pairs with reads mapped to separate chromosomes or separated by a distance of over 2 kb on the same chromosome were kept for fusion detection at the probe level. Output rearrangements contained translocation, inversion, long deletion, etc. []. Through this profiling, a LMNA-NTRK1 gene fusion encoding exons 1–2 of lamin A/C and exons 11–17 of the NTRK1 gene was identified (Fig. ), and the other unlisted genes were all wild-type. The sequencing results for the LMNA-NTRK1 gene fusion are presented in Additional files and .
After extensive discussion and consultation with the patient and his family, we initiated crizotinib therapy per os at 450 mg per day on January 23, 2017. One month later, chest CT scanning showed that all lesions in the bilateral lungs had almost disappeared, and the patient had achieved a near-complete clinical response (CCR, Fig. ). PET/CT imaging was repeated after 4 months of treatment and continued to show the same response to crizotinib therapy. PET/CT revealed that local FDG metabolism was slightly increased at the lesions of the fifth lumbar spine, sacrum, left ilium and left paraspinal muscle. However, with crizotinib treatment, the FDG metabolism was significantly reduced in comparison with that seen in the first PET-CT examination. The bilateral pulmonary nodules had disappeared, and the twelfth vertebra, which had shown osteolytic bone destruction, now showed signs of healing, with an increased density and a lower FDG metabolism. The volume of the left front nodule of the spleen was significantly reduced after treatment (Fig. ). A timeline of the treatment course is presented in Fig. . As of July 2018, clinical assessments in this patient showed an ongoing near-CCR of 18 months. In general, the side effects of oral administration of crizotinib at 450 mg per day were tolerable for the patient. During the course of treatment, the patient experienced grade 3 myelosuppression and grade 2 weakness, but myelosuppression could be alleviated with granulocyte colony-stimulating factor (G-CSF)-based supportive treatment. |
pmc-6106907-1 | The case reports patient CAGF, female, 49 years old, homeless in São Paulo, crack addict for ten years, and smoker 70 years/pack of cigarettes, G10P10, without breast cancer in her family history. She mentioned that three years ago she noticed a progressive increase of her right breast and the appearing of bleeding ulcers. She noted a not measured ponderal loss and progressive weakness. She sought primary healthcare service for the first time three months before where a biopsy of the lesion was performed. The anatomopathological examination evidenced an atypical fusiform proliferation, ulcerated and necrotic. The patient was referred to the São Paulo Hospital with a bulk tumor mass, which extended from the right breast to the right flank, friable, bleeding, and sore with a malodorous (). She was undernourished (BMI 15,57/m2), in a regular, state feverish and pale +/4+. Her physical examination performed by medical equipment did not show alterations. The chest tomography showed the cystic injury and lungs without signs of metastasis ().
Initially, due to the infectious character of the wound, antibiotic therapy was performed with intravenous clindamycin. After a discussion of the medical board, a hygienic mastectomy, and reconstruction unilateral thoracoabdominal, the surgical specimen performed had the following dimensions: 14,5x12x9 cm and 1.375g ().
The anatomopathological exam resulted in a malignant mesenchymal tumor of a high histological grade. The immunohistochemistry showed pleomorphic undifferentiated sarcoma of high grade (Ki-67 positive in 70% of the sample, negative CD34, negative S-100, and negative vimentin).
Two weeks after the surgical procedure (14° PO), the patient evolved with necrosis in part of the thoracoabdominal flap; it was necessary to perform the debridement of the necrotic area (Figures and ). On the 26° PO, a new debridement of the surgical wound was performed applying skin graft from the right thigh.
During the hospital stay, the patient presented symptoms and laboratory aspects of anemia, being necessary transfusion with red blood cells. The antibiotic therapy with ceftriaxone and metronidazole was staged for clindamycin (POI) and cephalothin (12° PO) and, later, for piperacillin and tazobactam (17th PO) due to remaining infectious signs in the surgical wound.
After 21 days of antibiotic therapy with piperacillin and tazobactam (39° PO), the patient developed fever (40,3°C), tachycardia, and sweating progressing to a decreased level of consciousness. The patient was transferred to the ICU, where she remained for 48 hours, due to a sepsis of unknown origin and neutropenia of 146 U/L, secondary to sepsis. She initiated meropenem and vancomycin remaining stable, without the use of vasoactive drugs, but maintaining the fever. Infectious screening was performed without the identification of origin.
After 48 hours of admission in the UCI, the patient had an improvement in its fever and neutropenia status, being transferred back to the Gynecology Ward where she presented diffuse maculopapular rash over all integument and face worsening after the contrasted CT on the following day. Vancomycin was suspended due to a suspicion of the pharmacodermy, which was confirmed in skin biopsy.
The patient evolved with a rapid and significant recovery of her skin rash without the need of continued corticotherapy after suspending the vancomycin. Then, the linezolid was initiated to cover the Gram + germs.
After 14 days of meropenem and 7 days of linezolid, the patient presented a satisfactory progression, remaining afebrile and asymptomatic for 12 days.
Despite the clinical improvement and stability, on the 38° PO clinical staff noted the appearance of ulcerated nodule of around 1 cm of diameter in in the right parasternal region, suggestive of local recurrence, which increased progressively, presenting a measure of around 3 cm at the moment of the patient discharge (). Besides, during the hospitalization, small pulmonary lesions were identified on computed tomography, absent at the moment of the diagnosis, suggestive of tumor metastasis ().
The case was followed and discussed with the Clinical Oncology, which opted to perform outpatient chemotherapy, with Doxorubicin, due to the impossibility of another surgical intervention at the moment. Resources such as transport and psychological follow-up with CAPS (Psychosocial Attention Center) were provided for the adherence and maintenance of the treatment, besides management by the infectious and plastic surgery staff.
During the outpatient follow-up, 4 chemotherapy cycles were performed, but the recurrence progression was maintained, returning 4 months after the hospital discharge, with an extensive lesion, fever, and local refractory pain, with diagnostic hypothesis of sepsis of cutaneous origin ().
The antibiotic therapy was initiated, and the patient was hospitalized for stabilization. A new tomography was performed, presenting pulmonary extensive metastatic lesions, bilateral, besides the massive lesion (). The patient remained hospitalized for six days, without complications, and introduced to the palliative care after the hospital discharge. |
pmc-6106909-1 | Our patient was an 8-year-old Caucasian female referred to our neurodevelopmental disorders clinic following periods of extreme behavioural problems in the context of physical illness. On family history, her maternal grandfather and two maternal first-cousins were reported to have been diagnosed with fragile X syndrome, while her mother and two maternal aunts were reported to be carriers for the fragile X premutation; however, the family was unable to provide additional details on the extent of the fragile X diagnoses. On her father's side, there were several family members with identified learning disabilities. There was no other significant family history of psychiatric or medical illness.
Prenatal, birth, and developmental history were unremarkable. The patient was described as an “easy” baby. There was no ongoing conflict described between the parents. She was described as always being a good student, active in many hobbies, and well-adapted socially. Her past medical history was significant for a diagnosis of ADHD, which had been made by the pediatrician two years before the onset of her behavioural symptoms. The patient's comorbid ADHD had been previously treated with methylphenidate, lisdexamfetamine; however, the medications were discontinued after the patient's behavioural syndrome surfaced without any clear benefit. At the time of assessment, the patient was taking guanfacine. There was no history of head trauma. There was no other significant past psychiatric history.
The active symptoms and signs reported by the patient and her family included aggression, enuresis, increased social anxiety symptoms, fearfulness and increased dependence on caregivers, academic decline (in terms of grades and attendance at school), and social decline (less interested in interactions with family and peers). The patient's parents described her behaviour to have “regressed,” which included social withdrawal from family and peer gathering but also many times when the patient was found to be “hiding behind the chair.” The first of these episodes occurred a few days after she had developed bacterial pneumonia. Other episodes occurred shortly after she had developed streptococcal sore throat and chicken pox. The only other preceding event our patient and her family were able to identify was that they had been travelling a few days before the development of the first episode of behaviour problems.
The abovementioned behavioural syndrome was initially accompanied by a sense of anxiety; however there was an absence of obvious physical symptoms or signs (such as palpitations, shortness of breath, tightness in the chest, and numbness in the arms). Subsequently, the syndrome subsided a few weeks after the physical illness had resolved, and our patient was described as having “returned to her baseline” by her parents. There was no evidence of psychosis during these episodes.
The physical exam, performed by a pediatrician and subsequently repeated by the patient's family physician, was entirely “unremarkable,” including a normal full neurological and thyroid exam. Screening medical investigations, including a complete blood count, renal function, liver function, and thyroid panel, were noncontributory. Pediatric autoimmune neuropsychiatric syndrome was also considered, given her exposure to streptococcus infection. Upon referral to the genetics clinic, cytogenetic analysis was performed, which was significant for a 22q11.2 microduplication. Genetic testing was unremarkable for additional microdeletions or microduplications and was negative for the fragile X premutation.
When we had assessed our patient, she appeared stable and was doing well overall. She was attending school regularly and doing well academically. She also had been engaging in a variety of extracurricular activities and had established a secure social network outside of her immediate family. Her parents described her to be doing well both socially and emotionally at home. We primarily diagnosed our patient with ADHD based on history and an unspecified behavioural syndrome that was related to physical illness. We also noted the presence of residual social and generalized anxiety symptoms and recommended a referral to a cognitive behavioural therapy group for skill building. She followed up with her pediatrician a few months later and has been reportedly doing well. To date, she has had no further episodes and has declined further care. |
pmc-6106916-1 | A 23-year-old female was transported to the Emergency Department (ED) by ambulance after a rear-end motor vehicle collision (MVC) at highway speed. The paramedic reported she had repetitive questioning en route and complained of neck pain and left lower quadrant abdominal pain. She was placed in a cervical collar and spinal immobilization at the scene and was hemodynamically stable during transport. Based on the prehospital report, she did not meet trauma activation criteria.
On primary survey the patient was hemodynamically stable with an intact airway and normal respiratory status. She was moving all extremities equally. Initial vital signs included a blood pressure of 137/76 mmHg, heart rate of 93 beats/minute, respiratory rate of 17 breaths/minute, and temperature of 98.0°F. Secondary survey revealed a Glasgow Coma Scale (GCS) of 15 with left lower quadrant and left upper quadrant abdominal tenderness but no peritoneal signs. She was alert and oriented to person, place, and time, but she was amnestic to details of the collision. She had 5/5 strength in all extremities, and sensation was grossly intact. There were no abrasions or contusions noted to the neck, chest, or abdomen. The patient underwent computed tomography (CT) scans including brain without contrast, cervical spine without contrast, and thorax/abdomen/pelvis with contrast to assess for traumatic injuries.
CT scans of the brain, c-spine, and thorax/abdomen/pelvis were unremarkable with the exception of a grade III splenic laceration. Her cervical collar was removed and her c-spine clinically cleared at the bedside. Of note, she specifically denied midline tenderness to palpation and was able to move her neck in all directions without pain. She did endorse tenderness to the paraspinal muscles of the cervical spine and bilateral trapezius muscles after her collar was removed. She continued to experience repetitive questioning at that time, raising suspicion for a traumatic brain injury. The trauma service was consulted for admission and further management of her injuries. Approximately two hours after arrival, while still undergoing evaluation by the trauma team, her family noted to the ED nurse that the patient was no longer moving her right upper and right lower extremities. No facial droop was noted. CTA of the head and neck showed a right proximal internal carotid artery (ICA) occlusion and a near occlusive thrombus of the left ICA. Heparin therapy was initiated. Her GCS was notably decreasing, resulting in subsequent intubation for airway protection. CTA was followed with a confirmatory angiogram that showed an occlusion of the cervical segment of the right internal carotid artery secondary to underlying dissection and a dissection in the distal cervical segment of left internal carotid. Both middle cerebral artery (MCA) territories showed multiple areas of bilateral branch occlusions. The patient was given a loading dose of abciximab and 4 mg of tissue plasminogen activator (TPA) through the intravascular catheter prior to intervention. A stent was deployed in the left carotid artery where a large, wall-adherent thrombus was noted. CT brain without contrast obtained the following morning showed bilateral MCA infarcts (). The patient's mental status improved slowly, but she ultimately required a tracheostomy and feeding conduit. She was transferred to an inpatient rehabilitation facility for further recovery. At the time of hospital discharge, she was able to answer questions with nods but continued to experience right sided hemiparesis. |
pmc-6106937-1 | On December 3rd, 2016, a 41-year old woman presented to the ER with colic pain in lower left abdomen. She had tenderness in her lower left abdomen, with no fever or hematuria. Emergency CT scan showed a thick-walled cystic mass (size: 2.1 × 1.5 cm) in the region of left adnexa (Fig. ). The adjacent left ureter could not be clearly identified, and left proximal ureter dilated. It also revealed severe hydronephrosis on the left kidney with a very thin cortex. She was referred to urology department for further investigation.
Her past medical history was significant only for bilateral hysteroscopic fallopian tube embolization in 2009. It was an interventional birth control method. Four months later, she began noticing small amount of “clear vaginal discharge” which periodically started 3–5 days before period and ended in the last day of period. In the following 2 years, she underwent multiple gynecologic ultrasound exams and a hysteroscopy exam, but nothing abnormal was found. The patient didn’t seek further treatment, until the sudden occur of abdominal pain.
At our institution, she received various imaging exams. Gynecology ultrasound reported multiple myomas and otherwise nothing abnormal. To find the reason of hydronephrosis, we performed CT retrograde ureterogram. The exam showed that contrast media could reach left proximal ureter and pelvis (Fig. ), but extravasation of contrast media into the uterus could be clearly seen (Fig. ), confirming the presence of uretero-fallopian fistula. Consulting gynecologist performed hysteroscopy but no fistulous opening in the uterus could be seen. Given the fact that the glomerular filtration rate of her left kidney was less than 10 ml/min, left nephrectomy was carried out. We found her left ureter closely adhered to the fallopian tube and iliac artery during operation, so we only removed proximal ureter, leaving the distal part untouched. Her postoperative course was uneventful without vaginal discharge, and her creatinine level remained normal. |
pmc-6106951-1 | A 69-year-old male presented to dermatology clinic with stage T2b mycosis fungoides, diagnosed two years prior, which manifested as a persistent, chronic rash involving both feet, and, to a lesser extent, other sites of his body. The lesions on his feet were painful and pruritic, limiting his ability to wear shoes and ambulate for the past two years. His disease showed little to no response to numerous topical agents including topical nitrogen mustard, imiquimod, clobetasol, vinegar soaks, PUVA soaks, amoxicillin, and doxycycline. Per the patient, consideration was made for amputation of the left foot below the ankle, which he refused. Subsequently, he was referred to radiation oncology.
Physical exam revealed tender, confluent, erythematous, and desquamated patches on the skin extending from the dorsal and ventral surfaces of his left foot to the ankle (Figures and ). His right foot had smaller, erythematous patches proximal to the 4th and 5th digits extending between the digits (). He was recommended surface HDR brachytherapy to his symptomatic lesions. The patient agreed to begin radiation therapy first to his most prominent and painful lesions on his left foot and undergo subsequent treatments for his other lesions if results warranted. A preliminary scan of the left foot showed diffuse involvement with some dorsal lesions > 5 mm in thickness. The patient was recommended 8 Gy in 2 fractions of superficial HDR brachytherapy to the entire affected area of his left foot using the Freiburg Flap (FF) applicator (Elekta AB, Stockholm, Sweden) followed by 20 Gy in 10 fractions of 6 MeV external beam electron treatments to the bulky dorsal lesions.
The FF applicator consists of a planar array of 1 cm diameter silicone spheres with longitudinal channels for insertion of treatment catheters and flexible connections laterally which enable the FF to conform to highly curved and irregular surfaces. The FF is often affixed to a thermoplastic mesh (TM), commonly used in radiation therapy, to maintain a reproducible orientation relative to the patient's anatomy.
In preparation for this patient's left foot HDR treatment, two pieces of TM material (Extremity EMRT-8430, Bionix Inc., Toledo, OH) were heated and formed around the patient's left foot consisting of a dorsal part and corresponding plantar portion. This two-part, clam shell construction allowed the entire foot to be tightly enveloped by TM yet provided ease of ingress and egress (). The FF was attached to the TM with dental floss interwoven between the FF beads and through the TM struts. This TM design and position of the FF catheters enabled the Ir-192 HDR source to travel in close proximity to the cutaneous tissue to be treated. A total of 39 catheters were required to encompass the entire treatment area of his left foot (Figures and ).
For treatment planning, a CT scan was performed with the FF device firmly affixed to the patient's foot and a thin metal marker wire attached to the TM to delineate the intended treatment borders (). The images were imported into Eclipse (Varian Medical Systems, Palo Alto, Ca). The planning treatment volume (PTV) outlined or ‘contoured' on the CT images consisted of a 1 cm proximal margin and all cutaneous surface tissue below the level of the marker wire to a depth of 3 mm. The path of each FF catheter was identified in three dimensions, and dwell positions for the HDR source were selected in step increments of 5 mm (). The dwell times of these source positions were adjusted to provide uniform coverage of 4 Gy to the peripheral margins of the PTV (). Overall, the left foot treatment plan involved 1326 active sources across 39 catheters, with a total dwell time of 1407 seconds (for a 10 Ci source). Two fractions of 4 Gy were delivered every other day during one week.
The treatment was well tolerated with some mild radiation-related edema and associated left foot pain that was managed conservatively and resolved within a week of completing treatment. At one-week follow-up, his lesions were regressing with significant improvement in pain, scaling, and erythema. Four months later, the deeper aspect of the gross tumor lesions involving the left foot was boosted with 20 Gy in 10 daily fractions using 6 MeV external beam electrons. Additionally, the same brachytherapy process without EBRT was subsequently followed for the patient's right foot, which responded well to HDR brachytherapy.
At each short-term follow-up (≤ 6 weeks) after completing his HDR brachytherapy, he reported a rewarding response with improvement of disease-related erythema, pain, and swelling in all treated areas, with near resolution of treatment related hyperpigmentation (Figures , , and ). Both feet were still in remission at his most recent follow-up 21 months and 19 months after completing his left and right foot treatments, respectively. Additionally, he was ambulating and wearing shoes, which he was unable to do at presentation due to his painful lesions. He did develop a new 3-4 cm mildly erythematous, circular lesion on the dorsal surface of his left foot just proximal to the irradiated area, which was treated and controlled with topical steroids (Figures and ). |
pmc-6106961-1 | In February 2017, a Good Samaritan brought a 25-year-old waitress into the medical emergency unit of Gulu Regional Referral and Teaching Hospital (GRRTH) after she was found unconscious. By physical examination, she was well hydrated with full-volume peripheral pulses with no pallor of the conjunctivae or peripheral edema. Her Glasgow coma scale was 11/15, and signs of meningeal irritation were positive by Kernig's technique; however, pupils were equal, accommodative, and reactive to light. Her blood pressure was 115/70mmHg, pulse rate was 100 beats per minute, respiratory rate was 16 breaths per minute, and her body temperature was 37.5°C. Rapid diagnostic test for malaria was negative and random blood sugar was within normal limits. She was stabilized and managed conservatively. After a couple of hours at the emergency unit, she gained consciousness and was able to share her history of current illness. She reported progressive worsening of a headache, with no history of convulsions, fever, or visual disturbances. Review of other systems was noncontributory.
In her past medical history (PMH), she was diagnosed with HIV infection in November of 2016 following an admission at GRRTH for an acute illness. She had presented with CM as her index opportunistic infection. She reported a history of a severe headache and fever for about 3 weeks prior to her admission. Diagnosis of CM was achieved through examination of Cerebrospinal fluid (CSF) following a diagnostic lumbar puncture (LP). She was treated with fluconazole 1200mg daily for 2 weeks and then discharged home on 800mg daily by mouth. During this admission, she was also initiated on antiretroviral therapy (ART) consisting of Tenofovir/Lamivudine/Efavirenz. A follow-up date was given a month from the date of discharge. However, she did not return to the hospital on the given follow-up date, as she did not have the transport money to come to the hospital. Since then, she discontinued fluconazole therapy and was not also on ART.
From her presentation and PMH, a recurrence of CM was the most likely diagnosis. Diagnostic LP was done to obtain CSF for analysis; serum and CSF point-of-care lateral flow assays were both positive for cryptococcal antigen (CrAg: Immuno-Mycologics [IMMY], Oklahoma, USA). Microscopic examination of an India ink preparation of the CSF demonstrated numerous budding yeast cells [] consistent with morphologic identification of Cryptococcus species, confirming the clinical diagnosis. CSF fungal culture was not done.
Since amphotericin B was “out-of-stock” and flucytosine is not available in Uganda, for induction phase, she was treated with high dose (1200mg) fluconazole and she also received daily therapeutic LPs over 72 hours for the management of her assumed increased intracranial pressure (deferred from her very severe headaches). She reported some improvement after 2 weeks of treatment. Fluconazole dose was reduced to 800mg daily as per the national CM treatment guidelines. A repeat HIV antibody test was positive, she had a CD4 count of 79 cells/μL, and her blood samples were sent for viral load assay at the Uganda Virus Research Institute, Entebbe. She was recommenced on ART in the 5th week of her CM treatment.
She was not aware of the cause, treatment options, and duration and the need for long-term/life-long suppression therapy for her condition. She comes from Packwach, West Nile (~120KM from Gulu) [], and was working as a bar waitress to earn a living in Gulu. She had no caretaker and did not have money to take care of her basic needs while in the hospital. She mostly relied on the support of good Samaritans and the support of other patient's caretakers for food and support. Through connections with another patient's caretaker, her brother was contacted and he requested that she is discharged and transferred for further care at Arua Regional Referral Hospital (~107KM from Pakwach) [], as they did not have the financial resources to sustain her in Gulu. We lost contact with her thereafter. |
pmc-6106962-1 | A 40-year-old woman sought medical treatment because of petechia, hematuria, and headache. Laboratory analysis revealed severe hemolytic anemia with schistocytosis and thrombopenia. ADAMTS13 activity was absent (<24 ng/mL, reference range 530-800 ng/mL), but no inhibitor could be detected. A diagnosis of thrombotic thrombocytopenic purpura was made despite a negative test for anti-ADAMTS13 antibodies []. She made a quick recovery with steroids and daily plasma exchange (PE) using fresh frozen plasma as a substitution fluid. After one week she experienced a severe relapse with microangiopathic involvement of the brain, heart, lung, kidneys, liver, spleen, stomach, and gut. PE was performed twice daily. Altogether, the patient had 41 exchanges over a six-week period. In addition, she received two 1g infusions of rituximab. Thyroid function was normal. The patient made a complete recovery and ADAMTS13 activity remained in the normal range.
Six years later the patient experienced a relapse of her TTP, again with absent ADAMTS13 activity but undetectable inhibitor. She had mild involvement of the brain (headache), kidneys (microhematuria and albuminuria), and gut (abdominal pain). She received oral steroids (starting dose methylprednisolone: 1 mg/kg bodyweight), eleven PEs and two 1g rituximab infusions two weeks apart, and completely recovered. The patient also reported weight loss, nervousness, and increased sweating before clinical relapse. TSH was suppressed, and FT3 and FT4 were mildly elevated (). Ultrasound of the thyroid showed increased perfusion. TSH receptor antibodies (TRAb) were also elevated. A diagnosis of GD was made and thiamazole 20 mg and propranolol 20 mg twice a day were started. TRAb levels decreased by 50% after the first PE and further 50% after ten days (). Thyroid function also normalized rapidly and the patient developed peripheral hypothyroidism three weeks later. Thiamazole and propranolol were discontinued. The patient subsequently had normal thyroid function and a negative test for TRAb. Two and a half years later TRAbs were of borderline value and TSH, FT3, and FT4 remained normal. ADAMTS13 activity was in the normal range. Thyroid function is being closely monitored in order to avoid hyperthyroidism and relapse of TTP. |
pmc-6106962-2 | A 25-year-old female was admitted because of petechiae, hematuria, and menorrhagia. Blood tests showed hemolytic anemia and thrombopenia. ADAMTS13 activity was reduced (59 ng/mL) and an inhibitor was detectable (0.75 BU/mL, reference: <0.2 BU/mL). The patient made a quick and complete recovery with steroids, three PEs and a single 1g dose of rituximab. At that time her TSH was normal (0.98 mIU/L).
Two years later, after an uneventful pregnancy and a cesarean section, she relapsed with ADAMTS13 of 38 ng/mL and a positive inhibitor test (2.6 BU/mL). She was treated with steroids, ten PEs, and 1g rituximab followed by 0.5g after the first PE and 1g after the plasma exchange series. At that time, her thyroid function was not assessed, but TSH had been normal (0.93 mIU/L) three months earlier.
Another two years later the patient had a second relapse with severe headache and petechiae. Again, ADAMTS13 activity was reduced (128 ng/mL) and anti-ADAMTS13 antibodies were present (1.89 BU/mL). Besides, she had tachycardia of 120 beats per minute and thyroid function tests confirmed a thyrotoxicosis (). A retrospective analysis of a stored blood sample taken before the first plasma exchange showed elevated TRAbs. Sonography revealed thyroidal hyperperfusion, and pertechnetate uptake was increased upon scintigraphy. TTP was treated with methylprednisolone 1mg/kg body weight as starting dose, thirteen PEs, and 1g rituximab followed by two doses of 0.5 g. Two weeks later the TRAb titer had fallen by three-quarters. GD was treated with thiamazole 20 mg and propranolol 20 mg, each twice a day. Five weeks later the patient had developed subclinical hypothyroidism with low FT4 (). Thiamazole was reduced to 5 mg daily. Three months later the patient had reached a stable euthyroid state and thiamazole was further reduced to 5 mg on alternate days. Eight and twelve months after diagnosis of GD, TRAb levels were in the normal range below 1.75 U/L. |
pmc-6106964-1 | The patient is a 25-year-old gentleman who presented with a one-day history of abdominal pain, nausea, and emesis. He has had two episodes of pancreatitis in the past secondary to hypertriglyceridemia, with the last episode occurring three years ago. He also has type II diabetes controlled with dapagliflozin (SGLT-2 inhibitor), sitagliptin, and metformin. In the emergency department, the patient's initial labs showed a WBC of 23,000 cells/µL, lipase of 2,530U/L, triglyceride level above 5,000mg/dL, bicarbonate 23mEq/L, and glucose 285mg/dL. His initial urinalysis and chest X-ray were unremarkable. A CT scan of his abdomen and pelvis with contrast was performed showing a large amount of peripancreatic inflammatory change consistent with acute pancreatitis (). There was no evidence of cholelithiasis or cholecystitis, and the bile duct diameter was within normal limits. Based on these laboratory findings and imaging results, it was concluded that the patient had acute pancreatitis secondary to elevated triglycerides. He was admitted to the inpatient service and dapagliflozin, sitagliptin, and metformin were continued.
The patient was transitioned from nothing by mouth status on admission to a full-liquid diet on day 3 of hospital stay. By day 5, the lipase level trended down to 158U/L. His blood sugar remained consistently between 120mg/dl and 220mg/dl since admission. Despite maintaining tight euglycemic control, the patient developed profound metabolic acidosis with a gradual downward trend of his bicarbonate level from 23mEq/L to 5mEq/L and a high anion gap of 32 by day 5. This was accompanied by the acute development of tachypnea and tachycardia with a heart rate up to 130bpm. He was immediately started on an IV infusion drip of sodium bicarbonate. The beta-hydroxybutyrate level was 6.06mmol/L with a blood sugar of 161mg/dL and a lactic acid level of 1.5mmol/L. An arterial blood gas revealed a pH of 7.14 and pCO2 of 13mmHg. Although metformin was also continued, the normal lactic acid and elevated beta-hydroxybutyrate supported the diagnosis of DKA. It was concluded that the acidosis was secondary to diabetic ketosis induced by dapagliflozin. All oral glycemic agents were immediately discontinued, and he was transferred to the intensive care unit where he was started on an insulin drip. The nephrology service was consulted and by their recommendations the patient also underwent plasma exchange therapy for hypertriglyceridemia.
After being stabilized in the intensive care unit over the course of 24 hours, he was transferred to the general medical floor on an insulin drip and was transitioned to basal insulin. His diet was cautiously advanced in the setting of acute pancreatitis. Mealtime insulin coverage was added as the patient increased his oral intake. His blood sugars continued to remain well controlled between 120mg/dl and 200mg/dl while his insulin regimen was optimized according to his oral intake. He was discharged on an insulin regimen with insulin detemir and insulin lispro with the recommendation to stop all oral glycemic agents. |
pmc-6106966-1 | A 7.5-year-old boy presented with progressive gait disturbance and falls. History included a full-term birth with no pregnancy or delivery complications. Developmental milestones including sitting up without support, walking, and speech were all within the normal range. Family history was remarkable for tremors in grandfather. He was first seen by the pediatric neurologist for unsteady gait and toe walking at the age of 3.5 years with the gait unsteadiness commencing around the age of 2.5 years with frequent falls. Tremors in the hands were noted sometime previous to the clinic visit. Examination was notable for a well-developed child with a normal funduscopic exam, no cardiac murmur, and normal mental status including speech, normal cranial nerves, and strength. He had 1+ deep tendon reflexes (DTRs) in both upper and lower extremities with down going toes. Gait was wide based and unsteady. He had a tremor in both hands.
By the age of 6.5 years he had progressed to more falls and worsening handwriting. Examination revealed pes cavus, mild scoliosis, and absence of cardiac murmur. Neurological exam was notable for trace to absent DTRs, loss of position sense, positive Romberg, downgoing toes, slowed rapid alternating movements, tremor on finger to nose exam, and wide based unsteady gait.
By the age of 7 years he had more frequent falls and worsening handwriting. Examination showed progression with respect to ataxia in upper and lower limbs with wider based gait. DTRs were absent and a positive Babinski was noted.
At last exam around the age of 7.5 years he was falling more, and exam showed evidence of increased tone in lower extremities with foot drop and steppage gait in addition to decreased proprioception in the lower extremities and inconsistent responses in the upper extremities.
Magnetic resonance imaging of the brain was normal. Laboratory testing including quantitative immunoglobulins, alpha fetoprotein, thyroid profile, serum lactate, vitamin E levels, creatine kinase, serum amino acids, and serum acylcarnitine profile were all normal. Echocardiogram showed global hypertrophy of both ventricles. Ophthalmological examination did not show any evidence of optic atrophy.
Mutation analysis showed one allele with a GAA trinucleotide repeat expansion of approximately 1000. Since the index of suspicion was high, frataxin sequencing was done which demonstrated another allele harboring a c.464G>A nucleotide change. The nucleotide change predicted an amino acid substitution of tryptophan to a premature stop codon at residue 155 (W155X). |
pmc-6106975-1 | We report a case of a forty-one-year-old male patient who presented to our emergency department with chief complaints of abdominal pain and was found to have right upper quadrant tenderness. There was no significant past medical, psychosocial, and family history. Ultrasound of abdomen showed distended gallbladder wall, with wall thickness measuring 7 mm along with pericholecystic fluid suggestive of acute cholecystitis. In addition, a 7 mm calculus was also noted in the cystic duct. Common bile duct diameter was 4 mm and portal vein trunk diameter was 10 mm. A hypodense lesion 11 by 15 mm was also seen in the left lobe of liver suggesting hemangioma. He was diagnosed with mild acute calculous cholecystitis and was discharged on oral antibiotics. He was advised for interval cholecystectomy in 4 weeks.
Sixteen days later, he presented again to the emergency with periumbilical, postprandial abdominal pain. It was associated with nausea and vomiting but no fever, jaundice, or change in bowel habits. On examination, his vital signs were normal, and abdomen was soft with minimal right hypochondrial tenderness, there was no hepatosplenomegaly, and bowel sounds were normal. There was no melena on digital rectal exam.
Laboratory investigation revealed WBC: 6500 x 109/L, Hb:159 gm/l, and PLT:247000 x109/L. Coagulation studies including prothrombin time, partial thromboplastin time, and INR were normal, and urea, creatinine, and electrolytes were all within normal range. Liver function tests revealed ALT: 29 IU/L, AST: 17 IU/L, ALP:117 IU/L, total bilirubin: 6 umol/l, protein:76 gm/l, and albumin: 41gm/l and CRP was very elevated at 1476 nmol/L (range: 0.76-28.5 nmol/l).
A contrast-enhanced CT scan of the abdomen was performed to rule out any complications as the changing nature of pain was not explained by cholecystitis alone. Apart from confirming the pericholecystic fluid and distended gall bladder, it also showed filling defects in several branches of the superior mesenteric vein and portal vein confluence with partial obliteration of the lumen, suggesting venous thrombosis, and part of the distal small bowel loops demonstrated apparent wall thickening with hyperenhancement and mesenteric congestion (Figures and ).
Doppler ultrasound study of hepatobiliary system also confirmed the presence of partial thrombosis. Portomesenteric thrombosis is an unusual site for thrombosis so work-up was done to rule out other causes. Antithrombin III activity was 101.2% (normal range 71-116 %), homocysteine: 8 umol/L (range: 5-15 umol/L), and ANA, anticardiolipin IgG, and IgM antibodies were negative. Genetic testing for prothrombin gene mutation 20210 and factor V Leiden mutation was also negative. Flow cytometric analysis of peripheral blood for paroxysmal nocturnal hemoglobinuria was negative. JAK2 mutation was not detected. Alpha-fetoprotein level was normal. MRI abdomen was performed to assess the nature of hypoechoic lesion in the liver seen on the initial ultrasound. MRI abdomen confirmed that the hypoechoic lesion in right lobe of liver was hemangioma and possibility of a primary liver tumour was ruled out.
The patient was started on therapeutic anticoagulation with enoxaparin at 1 mg/kg subcutaneous BID dose and IV Ceftriaxone 2 grams per day along with bowel rest. After 24 hrs the patient was started on warfarin and enoxaparin was continued for 5 days for overlap until his INR was in therapeutic range (2.0-3.0). Patient was discharged after 6 days of hospitalization and appointment with surgical team for cholecystectomy was given. His stay in the hospital was uneventful so a repeat CT scan was not done to look for bowel ischemia. On follow-up at 6 months patient was doing well clinically and completed the warfarin course. Repeat CT abdomen with contrast showed complete recanalization of portal and superior mesenteric veins () and patient is waiting for cholecystectomy. |
pmc-6107034-1 | A 15-year-old boy, grade 9 student, presented in neurosurgery clinic with complaints of backache and left leg numbness. According to the patient’s father, his symptoms started three months prior when he developed pain in the lower back. Symptoms were gradual in onset, continuous and progressively increasing in intensity from moderate to severe. The pain was worse at night and was relieved by taking paracetamol (acetaminophen). It was also associated with weakness in the lower limbs, with a left-sided predominance. A week prior to presentation, the patient developed urinary retention and constipation. His birth and family histories were insignificant. Vaccination and developmental milestones were up to date. General physical exam was unremarkable. Systemic examination revealed decreased power in the lower limbs, bilaterally positive straight leg response and absent plantar reflexes.
Considering the presenting complaints and examination findings, the patient was admitted for further workup. Magnetic resonance imaging (MRI) of the whole spine was performed which revealed an intramedullary lesion extending from T8 to L1 vertebrae involving the conus. The maximum dimension of the lesion was 138 mm (Figure ). A decompression laminectomy for excision of space occupying lesion was performed. The resected specimen was sent for histopathological review, where the diagnosis of glioblastoma multiforme was established (Figures , ).
Immediate post-operative MRI of thoracic and lumbar spine demonstrated post-surgical changes along with hemorrhage at the site of surgery with cord edema (Figure ). MRI brain showed no metastatic disease. Post-operatively, the patient had noticeably reduced sensation and power in the lower limbs, making him bedbound. Physical rehabilitation was then instituted which improved his condition slightly to the extent that he could be mobilized using a wheelchair.
The case was further discussed in site-specific multidisciplinary team meeting, where the consensus was to offer adjuvant concurrent chemo-radiation (CCRT). A total radiation dose of 4500 cGy in 25 fractions at 180 cGy per fraction per day was given to the tumor bed along with concomitant temozolomide at a dose of 75 mg/m2 (Figure ). During the course of treatment, the patient was examined weekly for any treatment-related side effects. After completion of CCRT, maintenance chemotherapy with temozolomide at a dose of 150 mg/m2 was continued.
Six weeks post CCRT, the patient was reviewed in the clinic. There was clinically significant improvement in power of the lower limbs. MRI of the whole spine revealed interval development of cystic degeneration with peripheral enhancement in the irradiated area along with cord expansion and edema (Figure ). Maintenance chemotherapy with temozolomide was continued and he was advised to follow in the clinic after three months along with a repeat MRI of the craniospinal axis.
On the subsequent follow-up, the patient complained of headache and pain in lower back. On examination, there was a substantial decline of power in the lower limbs. MRI showed interval development of two new rounded lesions at L2-L3 vertebral levels which were suggestive of disease progression (Figure ). The patient was then referred to palliative care team for further management. As pain was gradually controlled, he was discharged home on pain medications. A month later he passed away due to disease progression. |
pmc-6107036-1 | A 55-year-old Caucasian male, with a past medical history significant for tobacco abuse (41 pack-years), presented with shortness of breath accompanied by chest and back pain for two months. Blood workup showed a WBC count of 68,400 cells/µL, with an AEC of 27,360 cells/µL. A computed tomography (CT) pulmonary angiogram was performed, as he was hypoxic, and revealed a 3.6-cm speculated mass within the anterior right upper lobe, partially invading the anterior chest wall. It also revealed mediastinal and hilar adenopathy, an extensive osseous lesion (including compression fracture at T7), and a small pericardial effusion (Figure ). A CT of the abdomen and pelvis with contrast was performed and revealed a diffuse metastatic disease involving the liver, adrenal glands, spleen, and the bones. Magnetic resonance imaging (MRI) of the thoracic spine did not reveal spinal cord compression, but it did show the compression fracture at T7 and multilevel thoracic spondylosis. An MRI of the brain revealed a 5-mm lesion in the left occipital lobe, without edema or mass effect.
The hematology-oncology team was consulted for an evaluation of the metastatic disease and the eosinophilia. A core needle biopsy was obtained from a liver lesion and the result came back as poorly differentiated adenocarcinoma of the lung (cytokeratin 7, TTF1, and napsin-A were positive, while cytokeratin 2 and CDX2 were negative). Given his functional status, the decision was made to hold on systemic therapy and start on palliative radiation to the spine for pain control. The plan was to complete radiation sessions and then evaluate his functional status before starting systemic therapy.
He continued to have a high WBC count during the admission (Figure ). Therefore, a bone marrow biopsy was performed to rule out a hematologic malignancy and it revealed metastatic adenocarcinoma of the lung with no evidence of a myeloproliferative disorder. The flow cytometry from the bone marrow showed a CD5-positive clonal B-cell population, which was similar to the blood flow cytometry. Blood tests, including tests for Janus kinase 2 (JAK-2), calreticulin (CALR), MPL, BCR-ABL, and platelet-derived growth factor receptor (PDGFRA), were negative. The blood smear showed microcytic anemia with leukocytosis with absolute neutrophilia and eosinophilia. The serum immunoglobin E (IgE) was high at 377 IU/ml, and the tryptase level was low at 1.8 µg/L. Given these findings, his eosinophilia was related to a paraneoplastic process rather than a primary bone marrow disease.
During the following days, the patient completed 13 sessions of radiation without improvement in his functional status, pain, or breathing. The case was discussed with the patient and his family; he decided that he would go with comfort measures, so he was discharged to the hospice facility. |
pmc-6107038-1 | The patient was a 55-year-old Chinese male with no nationwide records of any significant past medical history. He was a current smoker and consumed alcohol daily. He worked in the operations department of a cleaning company but there was no self-reported recent soil contact or cleaning work at construction sites.
A week prior to admission, the patient developed fever, upper abdominal pain, and yellowing of his eyes. He remained febrile on admission and was noted to be very lethargic as well. Physical examination revealed jaundice and tenderness in the right hypochondrium with a positive Murphy’s sign. Investigations revealed a raised white blood cell count of 14.4 x 109/L and a procalcitonin level of 10.7 UG/L. Serum bilirubin and alkaline phosphatase were both raised at 37 umol/L and 339 U/L, respectively. An urgent computed tomographical (CT) scan showed a diffusely thickened and oedematous gallbladder with no dilatation of the biliary tree (Figure ). There was thrombosis seen in the right portal vein and in the splenic vein with splenic infarcts seen. There also were a few hypoenhancing foci in segment 4B/5 that could be due to ischaemia or evolving abscess.
The reviewing surgical team made a diagnosis of severe sepsis from acute acalculous cholecystitis and decided on operative management. A laparoscopic cholecystectomy was carried out, and intraoperatively, the gallbladder was found to be distended, inflamed, and containing turbid bile. No gallstones were found in the extirpated specimen. Postoperatively, the patient developed septic shock and multiorgan failure requiring mechanical ventilation and inotropic support in the intensive care unit (ICU). Recognizing the unusual presentation of cholecystitis, antibiotic therapy was escalated postoperatively from ceftriaxone and metronidazole to meropenem. Two days later, culture results from the peripheral blood and intraoperative bile fluid grew Burkholderia pseudomallei.
It was established later that he had undiagnosed diabetes mellitus with a glycated haemoglobin of 10.5%. He was discharged from the ICU after a prolonged stay of almost a month and suffered additional complications of dry gangrene of his hands and feet from the severe sepsis and high inotropic requirements. He was continued on intravenous meropenem for a month before converting to enteral trimethoprim and sulfamethoxazole for another three months. |
pmc-6107039-1 | A 29-year-old male patient known to have a history of gastroesophageal reflux disease and polysubstance abuse presented to the emergency department complaining of peri-umbilical abdominal pain, diarrhea, bright red bleeding per rectum, and dizziness. The patient had been suffering from similar symptoms episodically for the past 15 years. Previous abdomen computed tomography (CT) scan without contrast at age of 23 showed cecal thickening, after which the patient was treated with ciprofloxacin and metronidazole with minimal improvement. Subsequently, the patient was admitted as a case of suspected inflammatory bowel disease (IBD).
On physical examination, vital signs were: blood pressure 155/83 mmHg, heart rate 99 beats per minute, temperature 98.8 F, and respiratory rate 16. The patient appeared pale. Abdominal exam revealed normoactive bowel sounds, right lower quadrant tenderness, and no organomegaly. Physical exam was unremarkable otherwise. Laboratory workup was remarkable for iron deficiency anemia (Table ).
Fecal calprotectin was elevated at 90 μg/g (reference range: <51 μg/g), and C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were within reference range. Comprehensive metabolic panel, celiac disease panel, lipase, amylase, and stool studies, including Clostridium difficile toxin, were within normal limits.
Abdomen CT with contrast showed mesenteric lymphadenopathy with no findings of bowel thickening. Magnetic resonance enterography (MRE) showed a dilated segment of the small bowel with a possible diverticulum. The gastroenterology service was consulted with suspicion for IBD, in particular ileocolonic CD causing a stricture. Esophagogastroduodenoscopy and ileocolonoscopy were performed, which showed healthy mucosa of the colon and ileum with no endoscopic changes suggestive of IBD. Random ileal and colonic biopsies were obtained, and pathology of colonic biopsies revealed mild active chronic colitis with focal cryptitis. Ileal biopsies showed mild mucosal lymphoid hyperplasia. At discharge, adalimumab was initiated at standard dose for the possible stricturing ileocolonic CD. The patient was later readmitted with similar symptoms.
During his second admission, CRP was within normal limits. Abdomen CT scan with contrast and MRE showed small bowel wall thickening and inflammation within a bowel loop in the right lower quadrant with partial obstruction and dilation of involved loop (Figure ).
Esophagogastroduodenoscopy and ileocolonoscopy were repeated, and again, there were no endoscopic changes suggestive of active disease in the colon or terminal ileum. Biopsies showed normal ileal and colonic mucosa. The colorectal surgery service was consulted due to the possibility that these findings may be due to regional enteritis from MD rather than active CD, and resection of the affected small bowel segment was recommended. The patient underwent the surgery three months later. During laparotomy, there was a tight stricture two feet away from the ileocecal valve with outpouching of a thickened segment of bowel suggestive of MD. Pathology showed a two-inch wide diverticulum with sections of transmural inflammation and aphthous ulceration. No gastric or pancreatic mucosa were seen (Figure ).
The patient was continued on adalimumab and followed up later to report resolution of symptoms. We hypothesize that our patient had underlying ileocolonic Crohn’s disease, but with symptoms related to Meckel’s diverticulitis. |
pmc-6107042-1 | A 65-year-old man with severe chronic obstructive pulmonary disease (COPD) was admitted with a four-day history of chest pain and worsening shortness of breath. He explained the chest pain started suddenly when he tried to reach out for something on his computer table. It was located on the right anterior chest, sharp in nature, 7/10 in intensity, pleuritic, and worse with coughing and deep breathing. He had a past medical history of severe COPD with frequent exacerbations recently necessitating multiple antibiotics and steroid courses, coronary artery disease, gastroesophageal reflux disease (GERD), and hypertension. He had a 30-pack per year smoking history and quit about 10 years ago. He was a retired fireman living with his family.
Vitals signs in the emergency department (ED) were stable; he was breathing on ambient air. The physical examination demonstrated decreased breath sounds bilaterally without any wheezing or Ronchi. Moderate tenderness was present in the mid-axillary line in the fifth intercostal space, but no other abnormalities were noticed. Laboratory investigations were negative for any leukocytosis, troponin, or any other abnormalities. The electrocardiogram (EKG) showed a normal sinus rhythm. Computed tomography (CT) angiography was done to rule out pulmonary embolism (PE). The CT was negative for PE but showed mild peribronchial infiltrate in the right middle lobe and posterolateral lung herniation between the seventh and eighth ribs, with minimal subcutaneous emphysema along the right chest wall (Figure ).
The patient was admitted to the hospital and managed conservatively on broad-spectrum antibiotics, including vancomycin, levofloxacin, and 40 mg per day of prednisone. Two days later, his face swelled up suddenly with a change in the quality of his voice while he was eating dinner. An examination showed a swelling in the neck, diffuse crepitations on his body involving the face, all the way down to the buttocks. Repeat CT chest and neck showed extensive subcutaneous emphysema in the face, neck, chest, and mediastinum with a right-sided pneumothorax at the level of the previous lung herniation (Figures -).
The prevertebral and retropharyngeal air was demonstrated as compressing the oropharynx (Figure ). His oxygen requirement went up to 6 liters nasal cannula. A blowhole incision was made on the anterior chest wall, and he was observed in the medical intensive care unit (MICU). Surgery to close the defect was deferred due to his other comorbidities and the higher risk of post-operative complications. He improved gradually over the course of the next few days, completed the course of antibiotics with steroids, and was discharged to a rehabilitation center and did well post-discharge. |
pmc-6107326-1 | We report the case of a 64-year-old male whose medical history included hypertension, type II diabetes mellitus, and ischemic dilated cardiomyopathy with a history of heavy smoking (2 package/day for 30 years). The patient had undergone a coronary artery bypass grafting 10 years ago.
While being on routine outpatient follow-up due to suddenly worsening heart failure, with signs of systemic edema resulting in dyspnea, extreme fatigue and hypotension, the patient was categorized to have Interagency Registry for Mechanically Assisted
Circulatory Support (INTERMACS) II effort capacity. Further need for serious inotropic support placed the patient in the 'bridge to transplant', status Ib category. Consequently, the patient was implanted with a centrifugal type flow LVAD (Heartmate III, St. Jude Medical, Abbott) and was started on anticoagulation therapy with enoxaparin sodium 6000 IU subcutaneously twice daily (Figure ).
At post-operative day 20, he presented with melena accompanied with haemoglobin (Hb) levels falling from 11 to 6.4 g/dL, which prompted an upper gastrointestinal endoscopy revealing gastric cancer located at the cardia starting 1.5 cm distal to the Z-line, protruding into the gastric lumen at the posterior wall. Due to the patient's high-risk cardiovascular condition, enoxaparin was maintained at the therapeutic level twice daily at 6000 IU.
Biopsy indicated a signet-ring cell adenocarcinoma which with subsequent positron emission tomography-computed tomography (PET-CT) demonstrated no distant organ metastasis (Figure ).
After necessary preoperative assessment by anaesthesiologists and cardiologists, and under full therapeutic anticoagulation protocol (enoxaparin sodium 6000 IU twice daily), it was decided to proceed with a proximal gastric resection due to potentially life-threatening upper gastrointestinal haemorrhage. Since the LVAD was implanted at the left upper quadrant, an upper midline incision was found feasible, and proximal gastrectomy with extended D1 dissection was then performed. We performed resection of the proximal stomach using linear staplers, with a consecutive application of end-to-end circular 28 mm stapler for end-to-side esophagogastrostomy performed on the anterior surface of the stomach. Choice of this particular technique was justified due to the significantly shorter duration (20 minutes for resection-dissection-anastomosis) of the procedure in the light of having a shorter suture row on fundus and one anastomosis to deal with instead of three separate suture rows/anastomoses for Roux-en-Y reconstruction after total gastrectomy.
The pathology report indicated a poorly differentiated pT3N2(10/15)M0 signet-ring cell adenocarcinoma with negative resection margins. Originating from esophagogastric junction tumor was revealed to have perineural and lymphovascular invasion.
The early postoperative period was without major complications. The intravenous fluid administration was restricted in order to limit systemic edema. Since no postoperative bleeding occurred, there was no need to adjust the anticoagulation regimen. The patient experienced minor superficial surgical site infection and was discharged home on postoperative day 11 on a normal diet with necessary adjustments. No major complications were seen. Since then the patient has been followed-up for nine months till date, perfectly tolerating a normal diet. |
pmc-6107327-1 | A 71-year-old African American female with a past medical history of hypertension and cerebrovascular accident in 2004 presented to the University of Chicago emergency department with sudden onset dysarthria. The patient had noted a similar episode three days prior that spontaneously resolved. The patient’s speech became slurred 10 minutes prior to her arrival in the emergency department. Her home medications included daily aspirin, diltiazem, and lisinopril. She had been using Lisinopril for two years without difficulty and had taken her last dose on the previous morning. Further intake history was limited secondary to dysarthria, causing the patient to stutter and have difficulty with word finding. Vital signs included a blood pressure of 163 mmHg/83 mmHg, a pulse of 67 beats per minute, respiratory rate of 17 breaths per minute, and oxygen saturation of 97% on room air. On physical exam, we found the patient to have a right-sided facial droop and 4/5 motor strength in the right arm/leg compared to 5/5 in the left arm/leg, as well as tongue deviation to the right and an initial NIH Stroke Scale Score of 4. A brain computed tomography (CT) scan was unremarkable for acute intracranial hemorrhage or ischemic stroke but did demonstrate an area of encephalomalacia in the left cerebellum and the frontal and periventricular white matter. After neurologist and pharmacy input, the decision was made to administer tPA based on concern for acute ischemic stroke symptoms. The patient was consented for treatment, and tPA, 0.09 mg/kg followed by 0.81 mg/kg (patient weighed 70.7 kg), was administered intravenously (IV) one hour after patient arrival.
The patient’s symptoms improved 10 minutes after tPA administration. Within 30 minutes, the patient’s tongue developed a 1-centimeter maroon area of swelling on the right side that appeared to be consistent with a small hematoma. It was thought that the patient may have bitten her tongue and a hematoma was expanding secondary to the tPA. Over the course of 20 minutes, the lesion continued to expand until it reached maximum size seen below (Figure ). The swelling of the tongue remained unilateral and there was no adjacent swelling or urticarial rash of the lips or face. An otolaryngologist was consulted to perform a bedside laryngoscopy to assess the patient’s airway. The otolaryngologist noted swelling in the oropharynx with a patent airway. The patient was given diphenhydramine, methylprednisolone, and famotidine and was admitted to the neurology unit. Her C1 esterase level was normal. She recovered over the next 24 hours and was discharged from the hospital on hospital day 4 with instructions to continue her home medications, including the Lisinopril, and with the addition of Keppra® (UCB Pharma, Brussels, Belgium). |
pmc-6107328-1 | A 73-year-old male was referred for an autopsy at the Department of Clinical Pathology, St. Marina University Hospital, Varna, Bulgaria from the Intensive Respiratory Unit.
The underlying reason for hospital admission was an exacerbation of a habitually reported dyspnea. The patient was cachexic and he was in a rapidly deteriorating condition. Upon radiological investigation, six formations were found to be present in the lung. The patient reported a severe smoking habit with a history of 50 pack-years.
The patient had multiple hospitalizations in other hospitals in the past; however, he denied biopsy and, therefore, underwent no treatment.
Four days after the hospital admission, the patient died and he was referred for an autopsy to establish the tanatogenetic cause and mechanisms. The clinical diagnosis was bronchogenic cancer rT4NxM1a.
Thoracic dissection revealed a total of six well-rounded tumor formations in the lungs, five of which were solid and one was soft and slimy in appearance (Figure -). The largest tumor formation measured 8 cm in diameter and the smallest one measured 2 cm in diameter. There was pleural effusion on each thoracic side measuring 200 ml of serous fluid.
Abdominal section revealed a solid sub-capsular tumor formation in the liver measuring 2.5 cm in diameter (Figure ).
A section of the large intestine revealed multiple polyps, more than 20 in the cecum alone, two of which were with infiltrative growth into the intestinal wall (Figure ). The total number of polyps, however, was less than 100.
A section of the cranium revealed a well-demarcated formation, which was 1.8 cm in diameter in the precentral gyrus of the right hemisphere, with well-visible margins from the surrounding brain parenchyma (Figure ).
All lesions were composed of atypical epithelial cells, constructing atypical glandular structures, with pronounced mucus production (Figure -). The difference in appearance in one of the pulmonary masses was due to the excessive mucus production (Figure ).
Based on the histological profile of all the lesions (multifocal metastatic colorectal carcinoma pT4NxM1b) the diagnosis of attenuated familial adenomatous polyposis (AFAP) was accepted. |
pmc-6107448-1 | A 71-year-old male patient had a 3-year history of mucous membrane pemphigoid. He first presented with oral ulcerations, cicatrising conjunctivitis as well as cutaneous blisters. He was initially treated with prednisone 1 mg/kg/24 h and azathioprine 2 × 100 mg/24 h with subsequently progressive tapering of the oral corticosteroids. Azathioprine was stopped 18 months after the therapy start. Nevertheless, 2 years after initial diagnosis, he relapsed with severe oral and larynx involvement with dysphagia and respiratory distress. The latter required a tracheotomy with reintroduction of the immunosuppressive treatment. Prednisone 1 mg/kg/24 h and again azathioprine 2 × 50 mg/24 h were given over a period of 3 months. This was beneficial with regard to the skin lesions but had only little effect on the severe oral and laryngeal inflammation. Therefore, the patient received rituximab (MabThera), two times 1000 mg 2 weeks apart. Six weeks after the first infusion of rituximab, there was a significant regression of the oral lesions, but new ocular symptoms developed. The patient complained of foreign body sensation and of blurred vision in his right eye. Vision in this right pseudophacic eye had dropped to 0.5, and a new epithelial defect was seen at slit lamp examination (Fig. ). The changes of the corneal epithelium were suggestive of a dendritic epithelial ulceration as seen in HSV keratitis. An impression cytology of the corneal surface was taken, which allowed to confirm the diagnosis of HSV epithelial keratitis. Topical treatment with ganciclovir gel 1.5 mg/g (Virgan) 4×/24 h was started. Seven days later, the corneal surface recovered completely and without any opacification. A maintenance therapy with ganciclovir gel 1.5 mg/g 1×/24 h was started. Noteworthy, to that date, there was no previous history of muco-cutaneous HSV disease. The immunosuppressive therapy was tapered to 40 mg prednisone/24 h and azathioprine 50 mg/24 h. Four months after the first infusion with rituximab, the patient developed new ocular symptoms in his left eye. He presented with an increasing foreign body sensation, vision 0.1 due a dense cataract and an epithelial keratitis (Fig. ). As for the right eye, HSV epithelial keratitis was confirmed. Treatment with ganciclovir 1.5 mg/g 4×/24 h resulted in a rapid response with resolution of the keratitis within 10 days. The patient was given a maintenance therapy with ganciclovir gel 1.5 mg/g 1×/24 h. There were no further episodes of HSV keratitis during the subsequent 12-month follow-up. |
pmc-6107482-1 | A 61-year-old man visited our hospital with constipation. Colonoscopy revealed a circumferential tumor in the lower rectum, 60 mm from the anal verge (Fig. ). Biopsy findings indicated a moderately differentiated tubular adenocarcinoma. Although a complete obstruction was not detected, we could not pass the endoscope to the oral side of the tumor. Enhanced computed tomography (CT) demonstrated a 6.3-cm-long bulky middle to lower rectal tumor and multiple enlarged regional lymph nodes without distant metastasis. The patient was diagnosed with cT3N1M0 stage IIIa rectal cancer according to the Japanese Classification of Colorectal Carcinoma 8th edition []. Neoadjuvant chemoradiotherapy involving a combination of pelvic radiation (total of 45 Gy for 5 weeks) and concurrent chemotherapy with irinotecan and S-1 was introduced. Three weeks after completion of the therapy, the patient visited our hospital on an emergency basis complaining of no defecation for several days and was diagnosed with LBO based on CT findings. The tumor exhibited a clinical partial response (cPR) to the NAT according to the New Response Evaluation Criteria in Solid Tumors: Revised RECIST Guideline (version 1.1) []. Emergency colonoscopy revealed an obstruction at the lower rectum, where the primary tumor was located. Although the tumor had shrunk, we observed smooth stenosis with growth of fibrous tissue, which seemed to have been caused by the good response to NAT (Fig. ). A SEMS (Niti-S Colonic Stent; Taewoong Medical Inc., Gimpo-si, Korea) 8 cm in length by 18 mm in diameter was placed across the obstruction as a BTS (Fig. ). The patient’s symptoms dramatically improved, and he was discharged uneventfully 3 days after SEMS placement. Laparoscopic low anterior resection with diverting ileostomy was performed 3 weeks after SEMS placement. The duration of the operation was 265 min, and the blood loss volume was very small. The pathological diagnosis was moderately differentiated adenocarcinoma, T3 (SS), INFb, ly1, v2, PN1a, pPM(−), pDM(−), pRM(−), pN0, and stage IIA (Fig. ). Most of the tumor cells had been replaced by atypical cells with growth of fibrous tissue and inflammatory cell infiltration (Fig. ). Histopathologically, the chemoradiotherapeutic effect was grade 2. The patient had an uneventful postoperative course and was discharged 14 days after surgery. Capecitabine plus oxaliplatin (XELOX) was started as adjuvant chemotherapy 5 weeks after surgery. At the time of this writing, the patient had been alive without recurrence for 26 months. |
pmc-6107482-2 | A 56-year-old woman presented because of lack of defecation. She underwent colonoscopy, and a circumferential tumor was found in the lower rectum, 45 mm from the anal verge (Fig. ). The tumor was diagnosed as cT4bN2M0 stage IIIb rectal cancer. XELOX plus bevacizumab was introduced as NAT. Upon completion of five courses, the patient underwent colonoscopy for evaluation of the response to NAT. Circumferential luminal narrowing was found in the lower rectum, where the primary tumor was located. The shape of the stenosis was smooth and edematous (Fig. ). CT findings revealed LBO. The tumor exhibited a cPR to the NAT. We estimated that the stenosis was associated with effective NAT, as in case 1. A SEMS (Niti-S Colonic Stent) 6 cm in length by 18 mm in diameter was placed across the stenosis as a BTS (Fig. ). Laparoscopic low anterior resection with diverting ileostomy was performed 6 weeks after SEMS placement. The duration of the operation was 308 min, and the blood loss volume was very small. The pathological diagnosis was moderately differentiated adenocarcinoma, T3 (SS), INFb, ly1, v1, PN0, pPM(−), pDM(−), pRM(−), pN0, and stage IIA. Most of the tumor cells were organized by atypical cells with growth of fibrous tissue and inflammatory cell infiltration. Histopathologically, the chemotherapeutic effect was grade 2. The patient had an uneventful postoperative course and was discharged 20 days after surgery. XELOX was started as adjuvant chemotherapy 5 weeks after surgery. At the time of this writing, the patient had been alive without recurrence for 17 months. |
pmc-6107482-3 | A 63-year-old woman presented with bloody stool. Colonoscopy revealed a circumferential tumor in the lower rectum, 80 mm from the anal verge. The tumor was diagnosed as cT3N2M0 stage IIIb rectal cancer. mFOLFOX6 plus cetuximab was started as NAT. Upon completion of five courses, the patient visited our hospital on an emergency basis complaining of no defecation for several days. Emergency colonoscopy showed a stenosis in the lower rectum, where the primary tumor was located. CT showed that the tumor had obviously shrunk and that an LBO had developed. The tumor exhibited a cPR to the NAT. We estimated that the stenosis had been caused by effective NAT, as in cases 1 and 2. A SEMS (Niti-S Colonic Stent) 6 cm in length by 18 mm in diameter was placed as a BTS across the stenosis. After SEMS placement, the patient began oral intake and NAT was restarted immediately. Upon completion of six courses, laparoscopic low anterior resection with diverting ileostomy was performed. The duration of the operation was 218 min, and the blood loss volume was very small. The pathological diagnosis was well-differentiated adenocarcinoma, T3 (SS), INFc, ly0, v1, PN1a, pPM(−), pDM(−), pRM(−), pN1 (1/18), and stage IIIa. The tumor cells contained atypical cells with growth of fibrous tissue and inflammatory cell infiltration. Histopathologically, the chemotherapeutic effect was grade 2. The patient had an uneventful postoperative course and was discharged 24 days after surgery. mFOLFOX6 was started after surgery as adjuvant chemotherapy. At the time of this writing, the patient had been alive without recurrence for 11 months. |
pmc-6107704-1 | A 70-year-old female retired healthcare professional initially presented with a 10-day history of severe headaches without associated symptoms and with no history of head trauma. The patient had similar headaches in the past, but of shorter duration and lower intensity. The headaches developed suddenly and would occur when she leaned forward or stood up from a recumbent position. She described the headaches as an intense pressure-like sensation. Over-the-counter analgesics were ineffective. A few weeks after the onset of headaches, the patient started experiencing sleep attacks, wherein she would fall asleep during a conversation and even while standing up. She also reported having very realistic dreams that she often confused with reality. A multiple sleep latency test (MSLT) was normal, which refuted the clinical suspicion of narcolepsy. The sleep study did show mild sleep apnea, and she was prescribed continuous positive airway pressure (CPAP). Although the headaches spontaneously resolved within a few weeks of their onset, her sleep symptoms did not improve despite using CPAP for 6 months. She also lacked energy and motivation to participate in daily and social activities.
Over the next 6 months, she developed severe dysarthria, although she lacked insight into her speech pathology. She was referred to a neurologist for further testing. Her EEG was normal and her brain MRI (Figure ) showed mild frontotemporal atrophy. Based on these findings, she was diagnosed with frontotemporal dementia (FTD).
About 1 year after the onset of symptoms, the patient received a second opinion from another neurologist and underwent another brain MRI scan. This time, she received a clinical diagnosis of narcolepsy and was started on 100 mg modafinil tablets. The patient was also seen by a psychiatrist, who prescribed donepezil for her mild cognitive impairment. Her speech returned to normal, her sleep attacks completely resolved, and she felt more energetic. Unfortunately, all of her symptoms except for the sleep attacks reappeared 3 days after starting this treatment. The dose of modafinil was increased to 200 mg after 1 week, which improved her daytime sleep attacks, but did not improve her level of energy or motivation. About 1 month later, she started complaining of urinary incontinence, which was more severe than the stress incontinence she previously experienced.
Over the next 3 months, the patient developed additional symptoms. She became less concerned with her personal hygiene and developed impulsive and inappropriate behaviors such as eating fruit in the supermarket without paying and using her hands to eat. She also developed memory problems, although her family reported that these were not severe. She also developed involuntary choreatic movements, of which she was unaware, such as eye blinking, stretching her neck during a conversation, mouth movements, and tapping her fingers (not a tremor). With the emergence of these new symptoms, the opinion of a third neurologist was sought, who ordered an immunological panel, another EEG, another brain MRI scan, and a neuropsychological assessment. Based on the results of these studies, the patient was diagnosed with a behavioral variant of FTD. She continued taking modafinil for her sleep attacks and was prescribed a selective serotonin reuptake inhibitor for her behavioral symptoms.
The patient was seen at our institution at the peak of her symptoms, about 18 months after the onset. By this time, she was also experiencing occasional fecal incontinence. She was well kempt, fully alert, with expressive difficulties and dysarthria. Her Mini-Mental State Exam was 20/30 with deficits in orientation to time, short-term memory, calculation, repetition, and copying. She had mild spasticity of the right upper extremity during passive movements, but the rest of her neurological exam was unremarkable. A retrospective review of the brain MRI scans (Figures ) revealed diffuse pachymeningeal gadolinium enhancement and sagging of the brainstem, which were consistent with intracranial hypotension. An MRI scan of the whole spine was also performed, which showed 30 perineural cysts at all levels of the spine, but no evidence of a CSF leak. An epidural blood patch was considered; however, both the patient and her family wanted to try conservative treatment with a tapered course of steroids.
Based on a previous case report of a patient with a similar constellation of symptoms, we prescribed 1,000 mg of intravenous methylprednisolone daily for 3 days, followed by 80 mg of oral prednisone daily, which was decreased by 10 mg every week. For the last month of treatment, she received 5 mg of oral prednisone daily.
Four weeks after starting steroid treatment, her cognitive dysfunction and speech difficulties started to improve. Six weeks into treatment, she was able to perform activities of daily living such as cooking and washing dishes. After 8 weeks of treatment, her urinary and fecal incontinence fully resolved and she started to feel more energetic. A repeat brain MRI scan was performed at the end of the fourth month (Figures ), which showed reduced brain swelling, less venous sinus congestion, and resolution of the tonsillar herniation. |
pmc-6107760-1 | A 32-year-old gentleman presented to our institution with non-specific chest pains. He was well otherwise, with no past medical history of note. His maternal uncle had been diagnosed with hypertrophic cardiomyopathy. His presenting ECG was normal. |
pmc-6108016-1 | A 33-year-old Caucasian female was brought to the emergency department with possible syncope following lethargy and extreme exhaustion. Her mother found her on the floor of the restroom after hearing her falling down. According to her parents, she had mild flu-like symptoms, low-grade fever, and multiple episodes of nonbilious vomiting for 3 days before presentation. Her parents denied her ingestion of any medications or toxic substances intentionally or accidentally, and she did not have a past history of suicide attempts or ideation. Past medical history was only significant for high-functioning autism; she worked as a cashier at a fast food restaurant and was living with her parents. Her medications included methylphenidate and sertraline for years without any recent changes.
On presentation, her vitals included temperature 98.2°F, blood pressure 140/71 mm Hg, heart rate 136 beats per minute, respiratory rate 38/min, and oxygen saturation of 96% on ambient air. Examination revealed a Glasgow Coma Scale score of 10/15; mucous membranes were dry, and skin was cold to touch with decreased turgor. Breathing was deep and labored, chest was otherwise clear to auscultation; gastrointestinal and cardiovascular examinations were unremarkable. |
pmc-6108096-1 | A 92-year-old caucasian female with no previous history of abdominal surgery was admitted to our department with diffuse abdominal pain and vomiting. Physical examination revealed abdominal distension with muscle rigidity and absent peristalsis. Examination of her groins did not reveal any swelling. Bowel decompression via a nasogastric tube revealed small bowel content. A plain x-ray of the abdomen showed multiple dilated loops of small intestines. A CT of the abdomen identified the cause of the small bowel obstruction to be a herniation of the ileum between the internal and external obturator muscles (obturator foramen) with signs of incarceration, Figs. and . An emergency diagnostic laparoscopy was performed and the trapped ileum segment was bluntly reduced, Fig. . The hernia was laparoscopically managed via resection and closure of the redundant peritoneum over the obturator foramen using an endoloop (Fig. .). The reduced bowel appeared sufficiently perfused with merely a serosal laceration. Intraoperative ICG fluorescence angiography was performed following injection of 3 ml of ICG and the bowel perfusion was observed using the PINPOINT ® system (PINPOINT; Novadaq, Canada). ICG fluorescence suggested the presence of irreversible ischaemia with the need of bowel resection, Fig. . The ischaemic ileum segment was resected followed by a side to side stapled anastomosis. Figure demonstrates a normal bowel perfusion after ICG following anastomosis. Postoperative management included fast tract rehabilitation, physical therapy and mobilisation. The patient was discharged on postoperative day seven after an uneventful postoperative course with normal bowel movement. |
pmc-6108101-1 | A 50 year-old Chinese female with a complaint of bilateral blurred vision of 2 years duration was referred to us after elevated IOP of 1 week duration was documented. History revealed no family history of glaucoma, no trauma to the head or neck, and no headache. The patient did not have diplopia, pulsatile tinnitus, nor pulsation of the orbit. She reported having persistent red eyes for over 30 years, for which she intermittently used several anti-inflammatory eye drops in both eyes (OU), all of which were ineffective.
On examination, uncorrected visual acuity (UCVA) was 20/40 right eye (RE) and left eye (LE), best corrected visual acuity (BCVA) was 20/20 (− 1.00D OU), IOPs were 36 mmHg RE and 30 mmHg LE. Findings of the adnexa were unremarkable, ocular motility was normal and no relative afferent pupillary defect was detected. No carotid or ocular bruits were heard. Anterior segment examination revealed numerous tortuous and engorged episcleral vessels bilaterally (Fig. ), while the conjunctival vessels were normal with no chemosis. Anterior chambers were deep without any inflammatory reaction. Dilated fundus exam revealed optic nerve rim loss with a cup-to-disc ratio of 0.8 H × 1.0 V OU, without retinal vessel dilation or tortuosity (Fig. ). Axial lengths measured 23.46 mm RE and 23.58 mm LE, and an ultrasound B-scan showed no thickening of the sclera in either eye. Tubular visual field was present bilaterally but more prominent RE (Fig. ). Gonioscopic examination showed open angles with spontaneous blood in Schlemm’s canal 360 degrees OU (Fig. ). Thus, secondary glaucoma, dilated episcleral veins and refractive error were the initial diagnoses. Various anti-glaucoma eye drops were administered, while scheduling of other relevant diagnostic procedures were arranged.
Orbital color Doppler examination showed that the superior ophthalmic veins were of normal calibre in each orbit, with no reversal of flow (Fig. ). Head MRI with-and-without contrast was normal, without blood transfer between the cavernous sinus and intracranial artery, and without vascular malformation or space occupying lesions (Fig. ). Cerebral angiography, which was the most valuable method of diagnosing head or orbit vasculopathy, was also negative for arteriovenous fistula. Coronary angiography, color Doppler echocardiography and chest radiographs were within normal limits. Due to an absence of thyroid history, proptosis, ptosis and facial cutaneous angiomatosis, as well as negative radiologic findings and systemic manifestations for superior vena cava syndrome, the clinical diagnosis of glaucoma secondary to IDEV was established in both eyes.
Three days after the initial presentation (July 19, 2016), the intraocular pressure reduced to 24 mmHg RE and 21 mmHg LE with use of carteolol hydrochloride 2% and brinzolamide 1% twice a day and travoprost 0.004% at bedtime OU. Although surgery was recommended, the patient declined. After 10 days (July 29, 2016), the patient visited another hospital where micropulse diode laser trabeculoplasty (MLT) was performed on the right eye, resulting in minimal IOP decrease in the days following. When surgery was recommended again, the patient still refused. One year later (July 5, 2017), the patient was referred to us again for uncontrolled IOP 18–24 mmHg RE and 15-23 mmHg LE with medication prescribed previously, and a further decreased visual field RE (Fig. ). With the patient’s consent for surgery finally obtained, trabeculectomy was performed (July 7, 2017) on her right eye. 5-Fluorouracil 5 mg was injected subconjunctivally at the site of incision (25 mg/ml in a volume of 0.2 ml) immediately before the surgery. During the procedure, adjustable scleral sutures were used to close the scleral flap more tightly than usual. After surgery, in addition to antibiotic and anti-inflammatory eye drops, other topical drugs were applied to the eye, including atropine 1% daily for 2 weeks, tropicamide 0.5% one administration (5 min*4) in the morning daily for 4 weeks and prednisone acetate 40 mg daily for 7 days. The IOP decreased to 12-18 mmHg with a relatively deep anterior chamber. At day 5-postop (Fig. ), a diffuse but congestive bleb had formed. In response, 5-fluorouracil 5 mg was injected beneath the conjunctiva near the bleb twice a week for 3 weeks. The eyeball was massaged one to three times a day after day 7-postop. Two adjustable stitches on the scleral flap were removed on the sixth and ninth postoperative day respectively. Four months later, a similar surgical procedure was performed on the left eye. During the nine-month post-operative follow-up period for the right eye, and the five-month follow-up period for the left eye, the IOP of each eye ranged between 8 and 11 mmHg with a diffuse bleb. No apparent progression of field loss was noted, but persistent episcleral vessel dilation, as well as congestion in Schlemm’s canal, were observed. |
pmc-6108108-1 | A 21 year-old man with a history of granulomatosis with polyangiitis on home haemodialysis presented to the emergency department with 12 h of fatigue, several episodes of watery diarrhea and nausea but no emesis. He reported chills, diaphoresis, light-headedness and fever as well as tenderness over his tunnelled catheter side. He suffered from chronic arthralgia in his knees. Otherwise he denied cough, sputum production or haemoptysis, sore throat, abdominal pain, headache or rashes. His tunnelled catheter had been replaced over a wire 3 days prior due to a small hole in one of the ports. The patient reported that the tenderness over the catheter site was usual after replacement.
His previous medical history included granulomatosis with polyangiitis causing end-stage renal disease, subglottic stenosis, pericarditis, central nervous system vasculitis, pulmonary haemorrhage, atrial thrombus and deep vein thrombosis. He also reported depression and low testosterone. He had undergone two previous renal transplants, the most recent 6 months prior to presentation for which he had received tocilizumab, alemtuzumab, mycofenolate mofetil, tacrolimus and prednisone. Both transplants were complicated by acute rejection and both native and graft nephrectomies had been performed. He was now established on nightly home hemodialysis five times weekly via a tunnelled left internal jugular catheter. He denied smoking, alcohol or drug use. Medications prior to admission included topical gentamicin ointment around the catheter entry site and he reported previously developing an itchy rash with penicillins.
The patient appeared chronically unwell with mild distress. His pulse was 135 beats per minute, blood pressure 82/39 mmHg, oxygen saturations via finger probe 95% on room air with a temperature of 103.2 F. Examination was notable for tenderness over the tunnelled catheter site without overlying erythema or purulent drainage. Jugular venous pressure was estimated at 6 cm of water.
Laboratory results on admission were notable for white cell count of 3400/mm3. Chest radiograph showed no evidence of acute cardiopulmonary disease and a tunnelled left internal jugular catheter terminating over the right atrium.
The patient was admitted to the intensive care unit and placed empirically on vancomycin and aztreonam due to his penicillin allergy. A single dose of gentamicin 3 mg/kg was administered after gram-negative rods were identified in the blood cultures and cautious fluid boluses were given. The patient declined central line or arterial line placement. His midodrine was increased to 10 mg three times daily and he was started on norepinephrine via peripheral intravenous catheter. His haemodynamic parameters, fever chart and antibiotics administered are shown in Fig. . After 12 h, the patient was alert and oriented, his hands and feet were warm and lactate 0.5 mmol/L. Norepinephrine was discontinued. Initial blood cultures drawn in the emergency department were reported as positive with gram-negative rods growing in the aerobic and anaerobic bottles with time to positivity of 15 h. Speciation was performed using matrix assisted laser desorption/ionization –time of flight (MALDI-TOF) revealing Pasteurella multocida sensitive to erythromycin (minimum inhibitory concentration (MIC) 4mcg/mL), moxifloxacin (MIC 0.023 mcg/mL), penicillin G (MIC 0.064 mcg/mL) and tetracycline (0.75 mcg/mL). Peripheral and central venous catheter blood cultures drawn 12 h after admission were negative.
Further history from the patient revealed that the patient’s kittens played with his tunnelled catheter with a bite leading to the small puncture in one of the ports prior to admission. He was initially switched to intravenous moxifloxacin after susceptibilities were known then ultimately ceftazidime 1 g after dialysis 5 times weekly with gentamicin catheter locks. The choice of ceftazidime was based on ease of dosing with dialysis. He was discharged on day 4. He completed 2 weeks of antibiotics with surveillance blood cultures drawn 5 and 13 days after completion remaining negative. |
pmc-6108124-1 | A 77-year-old Japanese man presented to our hospital with esophageal mucosal abnormality in the middle thoracic esophagus. This abnormality was discovered in a barium study for a health checkup. His medical history was significant for primary hypertension. He reported a 50-year history of smoking 8–10 cigarettes per day. There was no family history. Physical and neurological examinations were unremarkable. Esophagogastroduodenoscopy showed 20-mm, reddish, elevated, and flat lesions in the middle thoracic esophagus (Fig. ). Narrow band imaging (NBI) endoscopy showed dot-like microvessels in elevated lesions (Fig. ). However, the microvascular pattern showed irregular, fine, reticular blood vessels, of Japan Esophageal Society (JES) classification type R, near the center of the lesions (Fig. ). Magnifying endoscopy with NBI revealed type B1 in elevated area, and type R near the center of the lesion in the JES classification. Endoscopic ultrasound showed that the lesion was localized in the mucosa (Fig. ). Therefore, this area of invasion was: cancer limited to the epithelium (EP)/cancer invading into the lamina propria (LPM) to cancer invading into the muscularis mucosa (MM). Biopsies showed SCC of the esophagus. Computed tomography (CT) showed no evidence of lymph node and distant metastases. En bloc resection of the tumor was performed successfully by esophageal ESD without any complications (Fig. ).
Histopathological findings showed an admixture of endocrine cell tumor with SCC with an invasion depth into the muscularis mucosa (Fig. ). No complications were related to the procedure. Immunohistochemical analysis showed positivity for CD56, chromogranin, and synaptophysin in the NEC component (Fig. ). Small cell type NEC was arranged in a sheet fashion existing in the center of the tumor, and these were partially surrounded by well-differentiated SCC. Lymphovascular invasion of the NEC component occurred in the deep part of the muscularis mucosa. Our patient underwent additional surgical treatment consisting of video-assisted thoracoscopic esophagectomy, three-field lymph node dissection from the cervix, mediastinum, and abdomen, and gastric conduit construction. Regional lymph node metastasis was identified in 1 of 76 nodes (number 108 lymph node), and the node metastasis stage was pN1. This lymph node contained NEC and no metastasis of SCC (Fig. ). After surgical treatment, he received chemotherapy consisting of etoposide and carboplatin for 3 months. He is alive and shows no sign of disease recurrence 12 months after surgery. |
pmc-6108147-1 | A 60-year-old female patient was admitted to our hospital on October 28th, 2016 with the symptoms of abdominal pain, distension, dark urine, cough, expectoration, chills and fever. The highest temperature was 39 °C before her admission. She had been taking iguratimod (25 mg twice per day) because of Sjoren’s syndrome (SS) for about 15 days prior to her admission. The patient didn’t have hepatobiliary disease and history of excessive alcohol intake, recent travel, blood transfusion. According to the physical examination, her vital signs were normal. Despite sever jaundice, she was conscious. There was no bleeding points or spider angioma or liver palm on her skin. Her abdomen was flat and soft, with no tenderness or rebounding tenderness. Additionally, her liver and spleen were untouched, without shifting dullness. Besides, no edema was seen in her entire body. Her blood test results (Table ) were as follows: complete blood count: WBC 3.54 × 10^9/L, NE 61.00%, Hb 119 g/L, PLT 130 × 10^9/L, PT 22.9 s, APTT 60.2 s, PTA 78%. Abnormal liver tests: TBIL 263.62 umol/L, DBIL 211.34 umol/L, IBIL 52.28 umol/L, ALT 747 U/L, AST 986 U/L, gamma-GPT 256 U/L, ALP 184 U/L, TBA 205.85 umol/L, LDH 346 U/L. The serum IgG was 13.68 g/L, and the level of IgG4 was 298 μg/ml. The patient was negative for IgM anti-HA, anti-HCV, anti-HEV, HBsAg, anti-EBV-VCA IgM. The serologic markers of hepatitis B virus HBsAb, HBcAb, HBeAb were positive, but the quantification of hepatitis B virus was normal. The results of ANAs were as follows: ANA (positive, nuclear particle type 1:3200), anti-SS-A (60) antibody (positive), anti-SS-A (52) antibody (positive), anti- La/SS-B antibody (positive). The results of autoimmune hepatitis markers (AMA), ANCA, ACL, anti-O antibody, rheumatoid factor, thyroid function and T-SPOT test were also normal. And phlegm etiology detection, blood culture, G and GM tests were normal. The serum C3 and C4 were normal. The CRP and PCT were moderately elevated which the highest level of CRP and PCT was 10.87 mg/L and 1.780 ng/ml, respectively. The result of ECG was normal. Abdominal ultrasound scan showed cholecystitis and ascites. The chest computed tomography (CT) found that bilateral pleural effusion and pneumonia at the lower right on November 31th, 2016. After 1 week, the review of chest CT revealed that bilateral pleural effusion was absorbed a little compared with the last result, and pneumonia was still existed. Combined with the history of related medication, symptoms, signs and the relative auxiliary examination, the patient was diagnosed as likely to be suffering from DILI, Sjogren’s syndrome, pneumonia, and hypoproteinemia. However, considering the patient with Sjogren’s syndrome and the higher level of ANA, antoimmune liver injury couldn’t be ruled out. According to the International Autoimmune Hepatitis Group’s (IAIHG) AIH diagnostic scoring system, the patient was rated 6 points and the AIH could be ruled out basically. To confirm the diagnosis, liver biopsy was proposed, but the patient refused due to economic reasons.Taking into account of the long-term use of hormones in patient, the routine blood and inflammation index couldn’t reflect the severity of infection, and the patient was given the treatment such as controlling infection, liver-protecting, albumin replenishing and other supporting treatments. However, the symptoms such as jaundice, abdominal distension increased and fever still appeared intermittently, while cough and expectoration have been improved obviously. And review of the relevant indicators (Fig. ) prompted that serum bilirubin level increased, transaminase and albumin level decreased and blood coagulation declined further. The above indicators suggested that abnormal liver function has reached to a higher level. The patient was given the treatment like infusion plasma to improve the function of blood coagulation. At the same time, the anti-infection therapeutic regimen was strengthened. On the 7th day of admission, we conducted a peritoneal puncture and checked the relevant indicators, and finally, the results suggest that the diagnosis of spontaneous peritonitis was ruled out. In order to clarify the cause and guide the next treatments, a multidisciplinary discussion was organized. Then the treatment was adjusted as follows: methylprednisolone was taking to control Sjogren’s syndrome, and we could use hormone via statics drop when the fever occurred again. About one month after given up taking iguratimod, the patient’s symptoms improved significantly, and the relevant indicators such as abnormal liver tests, blood coagulation function returned to normal basically (Fig. ). According to the updated RUCAM diagnostic scoring system, the patient was rated 9 points and was a suspected DILI. After discharged, the patient was re-adjudicated a one-month follow-up by the same reviewers and the diagnosis was confirmed. |
pmc-6108229-1 | A 60-year old man was admitted to the hospital after falling off an electric scooter. He fell on outstretched hands and knees and did not sustain a head injury. He immediately noticed loss of sensation in all four limbs and the abdomen.
On admission to the emergency department, he did not have motor or sensory (light touch or pain) deficits on physical examination. Deep tendon reflexes were intact. Deep anal pressure was intact. Anal tone was preserved with normal voluntary anal contraction. Computed tomography (CT) brain at that time did not show any evidence of fracture or haemorrhage.
However, on review 2 hours later, wrist flexion and extension were noted to have dropped to a power of 2/5, and his grip 3/5 based on the Medical Research Council (MRC) manual muscle testing scale. He was also complaining of a tingling sensation throughout his body. Anal tone and sensation remained normal. The neurological level of injury was C5 ASIA Impairment Scale (AIS) D based on the International Standards for Neurological Classification of Spinal Cord Injury. Please see . CT cervical spine showed multilevel cervical spondylosis with marginal osteophytosis and uncovertebral hypertrophy. There was mild central canal stenosis noted at C6/7 and bilateral exit foramina narrowing.
He was admitted for observation. Magnetic resonance imaging (MRI) of the cervical spine confirmed the presence of severe cervical spondylosis causing cord compression at C4/5 with associated cord oedema. He was kept in a hard Aspen collar. His symptoms fluctuated minimally over the next few days and his neurological level of injury was C4 AIS D prior to surgery. He underwent C3-C6 posterior decompression and instrumented fusion to stabilise the spine and to prevent further deterioration.There were no intraoperative complications and neuromonitoring of both the motor evoked potentials and somatosensory evoked potentials remained stable throughout the procedure. The cord was well decompressed and noted to be pulsating well. He was neurologically stable post-operatively. He was started on intravenous dexamethasone 4 mg three times a day post operatively and subsequently weaned.
He was admitted to the rehabilitation ward on the second post-operative day. Admission neurological findings can be found in . His admission Functional Independence Measure (FIM) score was 77. FIM score is a measure of impairments with scores from 18 to 126. A lower score indicates a higher degree of functional impairment. His neurological level of injury remained at C4 AIS D.
Motor power deteriorated on post-operative day 8 with shoulder abduction and elbow flexion both dropping to 1 on the MRC scale. He remained a C4 AIS D. This was accompanied by a drop in FIM score to 75 (which is not clinically significant). An urgent MRI spine showed post-surgical changes without epidural collection or haematoma compressing the cord. There were no nerve root impingement or hardware complications evident on MRI.
The spinal surgeons were consulted and agreed he had post cervical decompression C5 palsy based on clinical examination. Electrophysiological studies were not performed. Dexamethasone was switched from the oral to intravenous route to be given at 4 mg three times a day for 2 days (had been 2 mg twice a day per orally). Subsequently, dexamethasone was switched to the oral route and tapered to 4 mg twice a day for 5 days, then 2 mg twice a day for two days and then 2 mg daily for 2 days before stopping. He continued with inpatient rehabilitation. On discharge from the rehabilitation ward (18 days after his deterioration) the weakness related to his C5 palsy had not improved.
He continued rehabilitation at a subacute facility and was seen in the outpatient clinic at 5 months post injury. He had made further improvement in upper limb strength but some patchy sensory impairment of his left upper limb persisted. He was independent at home despite his reduced hand function and ambulated with no aid. His FIM score had improved to 124 although the neurological level of injury remained at C4 AIS D. |
pmc-6108451-1 | A 34-year-old woman has a vaginal partus after 38 weeks and one day of pregnancy. The delivery is induced because of pregnancy diabetes. There are no complications during delivery with epidural anesthesia. The neonate is a boy with a weight of 3150 g and a length of 50 cm. APGAR scores are 8 and 9 after one and five minutes. Twenty-five minutes after delivery the neonate begins to grunt and shows tachypnea. Saturation levels remain good at 96% without the need of extra oxygenation. There are no signs of cardiocirculatory distress.
A chest X-ray (Figures and ) shows a pneumothorax at the left lung apex and the Spinnaker-Sail sign, a sign of pneumomediastinum. Because of the favorable cardiocirculatory condition of the neonate and the minor need for oxygenation, the clinicians opt for a conservative approach. The patient is admitted in the neonatal care unit and receives extra oxygenation in an incubator.
Oxygenation is decreased during the following days and is ceased on day three. There is a favorable clinical evolution, with minor tachypnea and desaturation during breastfeeding. On day eight the respiratory function is back to normal. |
pmc-6109089-1 | A 42 yr old female patient diagnosed with primary high-grade serous ovarian cancer (Grade 3, stage IIIC) presented with malignant ascites and peritoneal seeding. Both primary tissues and malignant ascites were collected during primary debulking surgery. Fresh primary tissues and tumor cell clusters were mounted onto ITO-coated glass slides. Six samples were taken randomly from the solid portions of right ovary and only one from left ovary. Blood was collected to serve as the normal control. Ten tumor cell clusters were collected from the malignant ascites and fixed in 10% (v/v) formaldehyde. This study was approved by the Institutional Review Board (IRB) at Seoul National University Hospital (Registration number: 1305-546-487) and performed in compliance with the Helsinki Declaration. We obtained informed consent from the patient prior to primary debulking surgery to be used in research. |
pmc-6109285-1 | The patient was a 5 year-old girl from Russia. She had unremarkable perinatal, neonatal and family history (parents and brother are clinically healthy).
She was born from the fifth pregnancy, the second childbirth and was delivered by Caesarean section. Her birth weight was 3800 g and height was 53 cm. Apgar scores were 8 and 8 at 1 and 5 min respectively. No abnormalities were noted in neonatal period. Up to 2.5 years the girl developed according to her age without delay of speech and motor development. At the age of 2,5 years against a background of trauma of little finger, girl stopped talking. Gradually speech was restored, but vocabulary decreased. At 3 years the first febrile seizure attack occurred. Later parents noticed significant deterioration in her speech and communication. She became socially withdrawn. Brain magnetic resonance imaging revealed diffuse lesions in the white matter and hypoplasia of the lower cerebellar vermis. At the age of 3, 5 years stereotypic movements appeared. From 3, 5 years patient was commenced on valproic acid (antiepileptic drug). But motor deterioration progressed: by the age of 5 she stopped walking.
Based on observed symptoms, diagnosis of Rett syndrome was suggested. Prior to clinical exome sequencing the following studies were carried out: measurement of palmitoyl protein thioesterase (PPT) level in leukocyte, tandem mass spectroscopy, sequencing of MeCP2 and TPP1, analysis of common mitochondrial DNA mutations. All studies showed no abnormalities.
At the age of 5 years 8 months she was admitted to Scientific and Practical Center of Pediatric Psychoneurology with motor and mental deterioration, visual impairment and stereotypies.
She had normal physical development: she was 20, 5 kg in weight and 111 cm in height. Head was normal shape, head circumference was 50, 5 cm (normal). The skin was normal and clean. Abdomen was soft, painless. Stool and micturition were normal. Basic blood and urine tests were normal.
There was no interest in environment, no play activity. Orientation in space and time was absent. Speech and understanding of speech is disturbed: she used only speech sounds and syllables. She had stereotypic movements of hands and face. The girl have myoclonus in her hands, legs and facial muscles. Tactile stimulation enhances myoclonus. She does not walk, does not stand, does not crawl. A girl can only hold her head, roll over, sit with periodic falls.
Ophthalmological evaluation revealed partial atrophy of optic nerves, nistagmus, retinitis pigmentosa and mixed astigmatism.
EEG (electroencephalography) revealed a significant delay in the formation of cortical electrogenesis and poorly-structured epileptiform activity in the occipital-parietal-posterior temporal regions.
MRI (Magnetic Resonance Imaging) revealed cortical atrophy, periventricular leukopathy of both hemispheres of the brain and atrophy of the cerebellum (Fig. ).
ECG (electrocardiography) showed severe sinus bradyarrhythmia. The heart rate was 48–84 bpm.
In the hospital, she received treatment with anticonvulsant drugs: topiramate (100 mg/day) and levetiracetam (1200 mg/day).
Clinical exome sequencing was carried out by Genotek Ltd. Genomic DNA from peripheral blood sample was extracted using QIAamp DNA Mini Kit (Qiagen) according to manufacturerʼs protocol. DNA libraries were prepared using AmpliSeq Exome (ThermoFisher Scientific) according to manufacturerʼs protocol. Sequencing was performed on Ion Proton System (ThermoFisher Scientific). After sequencing we trimmed 3′-nucleotides with read quality below 10 using Cutadapt []. Raw reads were aligned to reference genome hg19 (GRCh37.p13) using BWA MEM []. FastQС was used for data quality control []. We called short variants using GATK HaplotypeCaller [] according to GATK Best Practices DNA-seq [, ]. The effect of each mutation was assessed using snpEff [] To assess pathogenicity and conservatism, the data was extracted from the dbNSFP [], Clinvar [, ], OMIM database (Online Mendelian Inheritance in Man) [] and HGMD [], as well as using the SIFT [] and PolyPhen-2 [, ] utilities to predict pathogenicity of the mutation. Information on the frequency of mutations was taken from 1000Genomes project [, ], ExAC [, ] and Genotek frequency data. Description of mutations and their pathogenicity were predicted according to the Standards and Guidelines developed by ACMG (American College of Medical Genetics and Genomics), AMP (Association for Molecular Pathology) and CAP (College of American Pathologists) []. Copy number alterations were determined using CNVkit [].
MFSD8 variant identified by exome sequencing was confirmed by Sanger sequencing. |
pmc-6109352-1 | The patient was a 48-year-old Korean man among four players who were enjoying a golf game. On the 11th hole, one of the players swung a number 5 wood club to take his second shot. At the time, our patient was watching the shot approximately 10 meters away from the player at a 50 degree angle. The player was an experienced golfer who had played golf as a professional for over 10 years. Our patient fell down after being hit by a high speed golf ball on his lower leg. He presented to our hospital with severe pain in his lower extremity. There was no medical, family, and psychosocial history. An X-ray examination revealed a displaced fracture of the proximal one-third of the tibia (Fig.
, ). He was treated with an intramedullary nail (Fig. , ). He had postoperative follow-up at 6 weeks, 3 months, 6 months, 9 months, 12 months, and then yearly. |
pmc-6109352-2 | A 43-year-old Korean man was one of four players who were enjoying a golf game. On the 12th hole, one of the players took a second shot with a wood club. The one who was making the swing was an inexperienced golfer. Our patient was watching the shot around 5 meters away, 15 degrees left of the player. The golf ball hit by the inexperienced player hit the lower leg of our patient. He was transferred to our hospital. He complained of severe pain of lower extremity. There was no medical, family, and psychosocial history. An X-ray examination revealed that he had a displaced fracture of the distal one-third of the tibia (Fig. , ). He was treated with an intramedullary nail (Fig. , ). He had postoperative follow-up at 6 weeks, 3 months, 6 months, 9 months, 12 months, and then yearly. |
pmc-6109452-1 | A 68-year-old woman with no prior medical problems sustained thermal burns when she spilled hot soup onto herself. She presented to the emergency department immediately. The initial assessment revealed 23% total body surface area (TBSA) superficial partial thickness burns involving the lower abdomen, bilateral thighs and pubic region including the mons pubis and labia majora (Fig. ).
She was started on fluid resuscitation, and a urinary bladder catheter was inserted for monitoring of fluid balance. She underwent burn scrub-down and Biobrane™ application 16 h after the burn.
Intraoperatively, the pubic hair was shaved, and the mons area was scrubbed down thoroughly. One piece of 10 cm × 10 cm Biobrane™ was applied and split in the middle of the lower half for a better fit for the labia majora and to keep the vestibule opening patent. It was secured by Hypafix™ superiorly to the lower abdominal wall and Vicryl Rapid™ 5–0 sutures inferiorly to the labia majora (Fig. ). Moist half-strength iodine gauze was then used to cover the Biobrane™.
On post-operative day two (POD 2), the Biobrane™ was well-adherent to the pubic region (Fig. ). The burns wounds were fully epithelized by POD 7 (Fig. ), allowing removal of the urinary bladder catheter, and the patient was subsequently discharged. |
pmc-6109452-2 | A 47-year-old woman with well-controlled hypertension and grade IV external hemorrhoids dropped a hot pot of soup on herself, scalding both her thighs, buttocks and perineum. She presented to the emergency department immediately. The clinical assessment showed a 10% TBSA partial thickness burn (mixture of superficial to mid dermal burns) involving the supra-pubic region, bilateral anterior thighs, perineum and bilateral buttocks and the labia majora and minora (Fig. ). She also suffered mucosal burns of her grade IV prolapsed hemorrhoids (Fig. ).
On admission, a Foley catheter was inserted to keep her affected areas clean. She underwent surgical scrub-down and Biobrane™ application 12 h after her burns.
She underwent burn scrub-down (Fig. ) and application of Biobrane™ similarly to the previous patient (Fig. ).
On POD 2, the Biobrane™ was noted to be well-adherent to the pubic wounds (Fig. and ). On POD 7, the burn wounds had fully re-epithelized (Fig. and ) and the urinary bladder catheter was removed. She was subsequently discharged on the same day. |
pmc-6109453-1 | This is the personal testimony of a 25-year-old Amhara woman, a final year student at an Ethiopian public university, and it is presented in her own words. The data were collected during an in-depth interview on 19 April 2015. The interview was audio-taped using a digital voice recorder. The main topics covered were her personal experience as a victim of incest rape, communities’ attitude, and the stigma and shame she faced as a victim. The interview was transcribed and translated verbatim from the local language, Amharic, to English. The transcript and translated version of the document were cross-checked with the original interview by an experienced sociologist.
It was another normal day in my office; I was analyzing data I had collected a week earlier on sexual violence from female university students when I heard a knock on my door. After I gave permission to enter, a frightened woman in her twenties entered. I greeted her and asked if I could help. “Last week you said we can visit your office if we have a story to share on sexual assault. So, I came to tell what my stepfather did to me when I was young, only if you can make it anonymous and agree to use it after I graduate,” she said. I agreed to her preconditions and gave her my word. Then she told me her story, the secret that has darkened her life, after a week of dilemma.
She was very nervous; she was not sure where to begin her story. I told her to take time and comfort herself first, and after taking a deep breath she started narrating, “…My mom was a young, hardworking, single mother. I was her only child as my father passed away when I was only two. Life was very tough for us; she had to work a double shift for us to survive. We lived alone for six years then she started to see a humble guy. A year later he moved in and changed our life remarkably as he was gainfully employed. I was very happy to see a smile on my mom’s face; she even upgraded her education and got her bachelor degree and became a professional nurse. I was also transferred to a better school and my academic performance increased. It was a joy to have a supportive father and a caring mother.”“Our happiness didn’t last long. Things started to change as my mom continued to spend more nights at work. I heard them arguing every single night as my father was jealous of her contacts with her coworkers and the way she dressed. That humble and caring father totally changed and made drinking his day-to-day habit. He started coming home late and even sometimes spent the night out. It was up to me to sit and wait for him especially when my mom was working during the night on the night shift at the hospital. Thus, I couldn’t sleep until he got home. Sometimes I was up all the night because he was chaotic and making annoying sounds. He took out his anger by breaking any material he found, but he never touched me as I was obedient and always took care of him. My sleepless and stressful nights made it difficult to actively attend my class. As a result, my school performance declined dramatically. Even though I was disappointed with my school results and our messy life, I never complained as I thought it was the only way I could help mom. Thus, I tried to cope with things, but I had never suspected that there could be worse things in life until that night.”
She remembers the day that put a big scar on her life and made her feel disabled with a lot of sadness and rage; she has cried her entire life. After sobbing for a while, she continued, “…that night he came home after midnight blind drunk as usual. I was all alone as my mom was out for a night shift at work. He stood and stared at me like never before; I was terrified by the way he looked at me, but tried to calm him down and serve him dinner. Still staring at me, he said, ‘My today’s dinner is you.’ I didn’t have a clue what that meant. I giggled and walked to my bedroom. Minutes later, I heard a cracking sound, it was my bedroom door. There my stepfather stood stark naked and asked me if I was ready to have sex with him. I was deeply shocked to see him like that. It was a total nightmare. How in the world does a father talk to his daughter like that? I remember that my body was shaking and I was hoping he would leave, but that didn’t happen. He suddenly jumped onto my bed, throttled me, tore my dress and removed everything I was wearing including my underwear. I was only fifteen by then; only fifteen. I was confused and couldn’t even figure out what was going on. Let alone shouting or fighting back I couldn’t even breathe as I was suffocated. Then Heeee ra…ped me (she cried for a while and stared at the tape recorder, her eyes were full of revenge and I could see every disappointment in her), hmm he enjoyed every bit of my pain and left me in tears in my mom’s home. I cried the whole night; I felt like there was dirt all over my body that could never be cleansed. I wished it to be a dream but it was not. Early next morning, he came to my room and told me to wash my body and the bed sheet before mom returns. I was amused and angry at the same time by his statement; I thought that because he did it when he was drunk he would never talk to me again and even would not have the guts to look me in the eyes when he is sober again. But to the contrary, he warned me to swallow my pain and go to school saying, ‘What happened last night remains between us, never tell your mom, don’t even think about it. If you fail to keep your mouth shut, I will destroy both of you. I will make your life hell.’”“…I will never forget the day I had at school that day. I was disturbed, worn out, upset and worried the whole day. I couldn’t even sit properly because of the pain, let alone pay attention to class. I couldn’t enjoy my lunch and communicate with my friends. The worst part was I had to act normal while my world was upside down. The endless questions of my friends increased my tension and I lost confidence to go home after school. Had it been another day I would have been eager to see my mom, as she spends the night on her duty and I go to school before she arrives home. That day, that day was totally different, I was not the girl mom knew before. How could I look in her eyes? I felt like I had betrayed her and let her down. So, I decided not to go home, rather disappear. I even told myself that life had no meaning for me and I didn’t deserve to live anymore. How could I live with him under the same roof after all he has done to me? But, what about my mom, the poor woman who lived for her daughter, I was her only inspiration and she has no life without me. I understood that my foolish decision would shorten her life and I went home. She treated me as usual, warm hug and affectionate kisses. Even though I was relieved to see her bright smile, I couldn’t take it so I cried. She was startled and asked me, ‘What happened?’ Part of me wanted to tell her everything while the other part kept reminding me of the evil words he said. So I told her it was just because of a fight I had had with my best friend. She smiled and kissed me again and told me that everything would be fine and she would help me to make up with my friend. I said yes mom, everything will be fine, but it hasn’t been, since then. That night I was outraged to see him acting normal, as if nothing had happened. He tried to be the same father in front of my mom, but when mom went to the kitchen I told him to keep his distance from me. But, he told me to shut my silly mouth. I still couldn’t figure out how a man who was humble and whom I once trusted and loved as if he were my biological father turned out to be a monster.”
“Four days later my mom was on her night duty again and he came home early. I gave him water for his hands and served dinner; he asked me to eat with him but I refused. I couldn’t control my temper when he said ‘take it easy’ so I left him there and went to my room; he followed me and started arguing. He choked my throat when I asked him to leave my room. This time I didn’t give up easily, I tried to fight back but he smashed my head against the wall and I collapsed in his hands, then he raped me again on my own bed. I cried the whole night. I really missed my mom, this wouldn’t have happened to me if she were home. I lost hope in my future. I hated myself and decided to take my life by my hands. I knew that only death could give me a break from this animal. But my poor mom came to my mind whenever I thought of bad things. So I told myself to be strong.”
“The next day I told mom to change her job and spend the night with us, but she didn’t get my point and said, ‘My dear I am doing this for you. As you can see I am ageing now but you will need more money when you join university and I have to save as much money as I can. I don’t want my only daughter to face money issues.’ I wanted her to know the truth behind my request, but couldn’t find the guts to tell her and ruin her life. But the worst thing was my stepfather made it his habit to rape me every time my mom was on her night duty; hearing his footsteps near my room became a nightmare I had to face over and over again. He even started to treat me as if I were his mistress. He even compared me with my mom, saying he enjoyed having sex with me more than that old woman, my mom. I hated those dark days. I had even prayed to God to take me to him and never wake me up…”
“This miserable life of mine continued for months, but one morning I vomited in the middle of class; my friends took me out and gave me water. I had no one to discuss my problem with; I was continually losing weight and my grade was also declining. One of my best friends mocked that I was pregnant; she was right, it had been two months since I missed my period. I went home and told him straight away; he was not surprised and took me to a private clinic next morning when my friends were going to school. I aborted when I was supposed to be in class. He was not sorry for what I was undergoing because of him, he even told the clinician to give me long-term contraception so that I would not find myself in the same situation again. I was heartbroken to see how mean he was, I believed he was my guardian, but he raped me. I had accepted and treated him like my biological father, but he played with my life. What tore my heart more was the health professional, he didn’t seem to care a bit about me; he did only what my perpetrator asked him to do. How on earth did he not even ask me a single question when he saw me in school uniform? What should I expect? After all he is a man! They kept me in the clinic until students were released from school, so that I could walk home with them as if I were in the school. That night I couldn’t help mom with the housework as usual and told her that I was on my period and she comforted me.”
“The next day he came to my room to have sex with me, as mom was not home. I decided to kill him with a knife I prepared earlier, but it didn’t work. He took away the knife and struggled with me to remove my underwear. Then I shouted and he left my room; when our neighbors came and knocked on the door he told them it was an accident and they should go home. The next morning on my way to school, one of our neighbors, mom’s best friend, was very curious and asked me to tell her what happened last night. I tried to control myself and said nothing but I couldn’t hide my tears. She was shocked to see me like that and took me to her house and asked me to tell her everything, promising she would not tell anyone including my mom. I couldn’t take it any longer and told her from the beginning. She couldn’t wait for me to finish, she ran to our home with an axe to kill him. He ran away when he saw her and she chased him until she was stopped by people. She was so very nervous that she forgot her promise and told them everything. I was humiliated by what happened. I was frozen like a tomb, unable to do or say anything. My life changed from that day on, I faced the worst stigma a girl of my age couldn’t bear. I was an agenda for the big and small, everybody talked about me. I dropped out from school because everyone in the school, including my close friends, was busy gossiping about my private life. Some male students even asked me to make out with them saying I had nothing to lose anymore. No one tried to help me, including the teachers, rather they made fun of me; some even accused me of seducing my mother’s husband.”
She suddenly started crying loudly, I gave her as much time as she desired to calm herself down and asked her what had happened then and she continued, “…unfortunately my mom arrived home when everything was in a mess and everybody was talking about it. Hearing the heartbreaking news she collapsed and never woke up again, though she was taken to hospital. I never got the chance to say goodbye to her and ask for forgiveness for keeping this secret for so long and making her find out about it that way. That day, I lost my glimmer of hope for once and for all. She was the reason I was able to bear all the pain, but my decision cost her life. She was the only hope I had; I didn’t spill a bean despite my suffering because I knew she would not withstand it with her cardiac condition. I was devastated to mourn my loss and face everybody with all the shame, humiliation, loneliness and guilt deep inside me. At a glance, I lost everything, I became an orphan. I had nowhere to go and no one to support me. But, thanks to God, my mom’s best friend took me in but it was difficult for me to blend in. I didn’t feel free to ask for my basic necessities; I didn’t want to be a burden on her family. I was awake most of the night because of the nightmare; I feel he is standing somewhere in my room watching me, I had a fear he would come and choke me. I dropped all my friends because I didn’t trust anyone. Back then, the only thing I wanted in life was to complete my education, join university and make true my mom’s dream.”“…He took away from me everything I had: my childhood, my hope, above all my beloved mom. Despite the fact that he should be sentenced and serve time in jail, my criminal stepfather escaped justice and his whereabouts is unknown. No one stood for my rights and I was too financially and morally broken to bring the case to court.” She wiped her tears and continued after a long sigh, “…am still living with the pain and scar; I believe someday God will punish him the way he deserves. He made me hate all men; I can’t marry and start a family. How can I trust men after all that has happened to me by a person I had once loved and trusted? I can’t even imagine it. I don’t want any girl to experience my pain in her life; that is why I decided to share my story leaving behind all the discomforts. Single mothers should be careful to bring men to their daughters’ house.” |
pmc-6109455-1 | This case study was approved by the Medical Ethics Committee of the Beijing Chao-Yang Hospital, Capital Medical University.
A 67-year-old female, who complained of intermittent fever lasting for 10 months was admitted to the Department of Internal Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China. The patient developed fever without an apparent reason (e.g. she did not experience chills before fever), which was the highest during afternoon and evening hours. The patient also complained of urinary urgency and frequency, facial edema, shortness of breath and weakness. She reported no cough, sputum, night sweats or joint pain. Her temperature would usually drop to normal after she would take ibuprofen. Furthermore, the patient visited the local clinic, and was diagnosed with urinary tract infection, which was treated with clindamycin for 4 days. During that period (2 to 3 weeks), the body temperature gradually dropped to normal. No blood tests or other examinations were conducted.
The patient again developed a fever (Tmax was 38.3 °C), and after visiting the local clinic she was again treated with clindamycin. Nevertheless, this time, the fever didn’t drop following administration of omidazole and levofloxacin for 4 days. Therefore, the patient was admitted to our hospital for further diagnosis and treatment. Physical examination confirmed the following: high body temperature (38.0 °C), blood pressure of 110/70 mmHg, heart rate of 80 Bpm (beats per minute), and respiratory rate of 18 Bpm. Superficial lymph nodes were not palpable.
After admission, the patient’s body temperature fluctuated from 37.3 to 39.0 °C. Blood tests showed white blood cells 5.88*109/L, neutrophil 65.4%, hemoglobin 101 g/L, platelet 293*109/L. Mycoplasma and Chlamydia antibodies, IgM and IgG were both negative. Three sets of blood cultures tested negative. Furthermore, procalcitonin was 0.09 ng/ml, ESR was 110 mm/h, T-SPOT. TB (Oxford Immunotec Global PLC, Abingdon, England) was negative. Blood EB virus and cytomegalovirus antibodies IgG were positive, while IgM were negative. In addition, hepatitis A IgM, hepatitis B antibody, and antigen were all negative. Also, HBV, HCV, HIV and syphilis antibodies all tested negative. Autoantibodies and anti-neutrophil antibodies were negative, as well as tumor markers. Serum biochemistries, including aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, total bilirubin, serum creatinine, and lactate dehydrogenase were all within normal limits. Cardiac, abdominal and urinary tract ultrasound showed no signs of damage. Enlarged lymph nodes were not detected by chest high-resolution computed tomography (CT) or total abdominal enhanced CT. Nevertheless, abnormal spleen with SUVmax 10.2 was observed by PET-CT (Fig. ). Bone marrow aspiration revealed that lymphocytes accounted for 19.5%, while abnormal suspicious cells for 7% of the total cell count, while no plasma phagocytes were detected. Consequently, splenectomy was conducted to further investigate the organ pathology. During the operation, a small stomach nodule was found, and was immediately resected and analyzed.
Pathological examination indicated an obvious enlargement of the spleen (14x12x3.8 cm, weight 410 g), with reddish brown cut surface, while there were no obvious nodules. Following microscope examination, the splenic architecture was normal, the white pulps were reduced and dispersedly distributed, the red pulps were extended, and the splenic sinus was enlarged, containing atypical lymphoid cells. At higher magnification, the atypical cells were large, with 2–3 small nucleolus (Fig. ). Also, atypical cells were almost limited to venous sinuses. Furthermore, immunohistochemistry data indicated that atypical cells were positive for CD20, CD79a, CD5, Mum-1 and Bcl-2, while they were negative for CD3, CD10, CD23, Bcl-6, CD138, CD163, CD34 and CyclinD1. Kappa and Lambda were positively scattered, while Ki-67 proliferative index was approximately 80% (Fig. ). Pathological diagnosis was splenic non-Hodgkin B cell lymphoma, i.e. diffuse large B cell lymphoma. Nodule diameter was 0.7 cm, and pathological diagnosis was gastrointestinal stromal tumor (Fig. ). Furthermore, diffuse large B cell lymphoma cells were found within the vessels around the stomach nodule. The immunohistochemistry results indicated that nodule cells were SMA (−), Desmin (−), Vimentin (+), CD34 (+), CD117 (+), S-100(−), Ki-67-LI (< 5%), Dog-1 (+), CD20 (+). To sum up, the above results supported the diagnosis of splenic diffuse large B cell lymphoma concurrently with gastrointestinal stromal tumor in the stomach.
The patient underwent comprehensive physical examination prior to chemotherapy. Twelve days after splenectomy, she received following R-CHOP chemotherapy regimen: rituximab, 600 mg, day 0; cyclophosphamide, 1.4 g, day 1; doxorubicin hydrochloride liposom, 40 mg, day 1; vincristine, 4 mg, day 1; prednisone, 100 mg, days 1–5. The patient was in remission after 3 treatment courses. |
pmc-6109485-1 | A 56-year-old female with no remarkable medical history presented to the emergency department with a chief complaint of dizziness since 3 days. Her blood tests revealed hyponatremia (serum Na+: 126 mEq/L), due to which she was hospitalized. There was no history of eating disorder, use of medications, or edema. Liver and renal functions were normal, and there was no metabolic abnormality, such as diabetes mellitus. Her serum osmotic pressure was low (254 mOsm/Kg), while urine osmolality was high (565 mOsm/Kg). Urinary Na+ levels were elevated (206 mEq/L). The adrenal gland and thyroid function were normal, while plasma ADH secretion was elevated (2.8 pg/mL), which led to the diagnosis of SIADH. Head MRI for the evaluation of central nervous system disease showed thickening of the floor of the third ventricle and lesions in the arachnoid and pia mater. Thus, neurosarcoidosis was suspected (); however, levels of serum angiotensin-converting enzyme and soluble interleukin-2 receptor were not elevated. Moreover, there were no typical lesions that indicated sarcoidosis, such as rash, uveitis, or hilar lymphadenopathy. On day 16, the patient suddenly exhibited impaired consciousness; head computed tomography (CT) showed ventricular enlargement, and she was therefore diagnosed with acute hydrocephalus (). Serum Na+ levels were low (122 mEq/L); however, there was no rapid progress of hyponatremia, and the cause of impaired consciousness was assumed to be acute hydrocephalus. Ventricular drainage led to improved consciousness, and contrast-enhanced head MRI confirmed nodular lesions with contrast effects in the floor of the third ventricle, cerebral aqueduct, and fourth ventricle (). On day 18, neuroendoscopic fenestration of the floor of the third ventricle was performed, and biopsy specimen of nodular lesions was obtained. Histopathological examination showed noncaseating epithelioid cell granulomas (). As there were no other lesions indicative of sarcoidosis, the diagnosis of sporadic neurosarcoidosis was made. Steroid therapy was initiated on day 26, and serum Na+ levels were restored to normal. Her symptoms did not exacerbate after gradual reduction in the dose of steroid. On day 70 of the illness, the patient was discharged on the basis of her independent gait (). |
pmc-6109490-1 | A 66-year-old Hispanic female presented with vague abdominal pain and exertional chest pain. She had a ten-year history of worsening epigastric pain attributed to gastritis that was treated with Dexilant. A general physical exam was done and did not reveal any significant abnormalities; she also denied any fevers, chills, weight loss/gain, or change in bowel habits. Environmental history was noncontributory as she denied extensive sun-exposure or use of tanning beds and reported that she regularly would use sunscreen with a 30 SPF. Still, there was an extensive past medical history for anemia, diabetes mellitus type II, coronary artery disease, asthma, hypertension, hyperlipidemia, hemorrhoids, and osteoarthritis. She also had a broad surgical history, involving a coronary artery stent in the left anterior descending artery [2016], percutaneous transluminal coronary angioplasty [2016], tubal ligation [1985], cholecystectomy [2007], bladder prolapse repair [2012], rectal prolapse repair [2012], hysterectomy [2012], and total right knee replacement [2013].
There is no report of primary tobacco use; however, she does report an extensive second-hand smoke exposure as a result of her biological father. Her family history is significant for multiple cancers, with her father dying of cancer related complications from a head and neck malignancy at the age of 65. The patient's sister died of breast cancer at the age of 44 and half paternal sister also died of breast cancer at the age of 38. Lastly, her brother died of colon cancer at the age of 70 and her mother's death at the age of 67 was due to a myocardial infarction unrelated to cancer. Interestingly, her eldest daughter was diagnosed with melanoma found in a cutaneous lesion, in 2016. Her physical exam did not reveal any concerning skin lesions or palpable abdominal lesions and her vitals were stable.
A near total gastrectomy was performed and multiple adhesions from prior surgeries were divided at the beginning of the procedure. A thorough surgical exploration of the abdomen demonstrated no lesions of the liver. The gastric lesions, having been preoperatively marked on endoscopy, were inspected. The proximal lesion was near the GE junction and another was located more distally closer to the antrum. demonstrates the proximal lesion that was located near the greater curvature of the stomach. displays the distal lesion marked preoperatively located near the antrum of the stomach with no surrounding necrosis or bleeding but was significant for raised mucosal margins in a wheel pattern.
Reconstruction was performed with a Billroth II anastomosis. Due to the almost complete removal of the stomach, a pouch was created via a jejunojejunostomy. A temporary feeding tube was placed distal to the anastomosis. No blood was transfused through this procedure and the estimated blood loss was 200 ml. The pathology associated with the gross specimens is seen in Figures and . They are associated with the second lesion as the first was found to have normal gastric mucosa. The lesions were positive for three significant immunological markers for melanoma, Melanin A, HMB-45, and S100 []. Though S100 has been found to have higher sensitivity but much lower specificity for melanoma [].
Her immediate postoperative course was unremarkable except for a fever of 101 F during the first 24 hours after surgery, which returned to 98.7°F about 9 hours after the initial fever spike in temperature. She remained afebrile for the remainder of her hospital stay. Overall, the patient progressed as expected postoperatively and tolerated her temporary tube feedings well. An upper GI series on postoperative day 5 showed no anastomosis leakage; thus a postgastrectomy diet was started soon thereafter. After a continued unremarkable postoperative course she was discharged on postoperative day 7 to a subacute rehab. |
pmc-6109497-1 | A healthy 3-year-old Chinese boy presented with multiple asymptomatic hypopigmented subcentimeter macules over his lower abdomen and suprapubic region (). There was no preceding trauma or inflammation. The rest of his skin examination was normal. There was no family history of similar lesions.
He was initially diagnosed with tinea versicolor. However, after a course of topical antifungal cream, the lesions remained unchanged in number, size, and appearance. Upon review by a dermatologist, he was diagnosed with clear cell papulosis. No further investigations or treatment were needed. His parents were reassured, and he was discharged from follow-up. |
pmc-6109502-1 | An 85-year-old Ghanaian female patient presented to our emergency department referred from a district hospital in Ghana with a 1-day history of melena associated with epigastric pain following food ingestion, dyspepsia, dizziness, and palpitations. The patient denied any history of hematemesis associated with this pain. The reason for referral from the district hospital was for a blood transfusion due to severe anemia. Prior to this, she also had a 14-day history of postprandial nausea and nonbloody vomiting. Physical examination revealed severe conjunctival pallor and melenic stool on digital rectal examination with a blood pressure = 110/70 mmHg, heart rate = 114 beats per minute, and afebrile temperature = 36.1°C. There was no abdominal tenderness or distention and no palpable abdominal mass on physical exam. Laboratory investigations showed macrocytic anemia (hemoglobin, 4.4 g/dL (normal: 12.3–18 g/dL), a hematocrit of 12% (normal: 40–54%), mean cell volume of 104.8 fL (normal: 80–100 fL), mean cell hemoglobin 53.5 pg (normal: 27–33 pg), and red blood cell distribution width 17.2% (normal: 11.0–16.0%)). Blood cell counts revealed a leukocytosis of 19,350/μL (normal: 2600–8500/μL), a neutrophilia of 14,570/μL (normal: 2500–7500/μL), and a platelet count of 392,000/μL (normal: 150,000–400,000/μL). The patient was resuscitated with 4 units of whole blood, normal saline, and ringers lactate. The differential diagnosis was upper GI bleeding secondary to peptic ulcer disease. The patient was started empirically on esomeprazole and had a nasogastric tube inserted. The patient continued to pass melenic stools and sustained severe anemia requiring continued blood transfusion. Due to the lack of resources including endoscopy, a functional computed tomography (CT) imaging unit, and inability to refer the patient 2 hours away to obtain imaging diagnostics, a clinical diagnosis of upper gastrointestinal bleeding was made based on the presence of melena and severe anemia, contrary to lower GI bleeding which usually presents with hematochezia. A decision for an emergent explorative laparotomy was done. Because this is a low-resource setting, there was no availability of endoscopy for laparoscopic surgery.
Under general anesthesia, the abdominal cavity was entered through an upper midline incision. A gastrogastric intussusception was found. The gastric fundus was intussuscepting into the body of the stomach (). A tumor measuring 2.5 cm × 2.5 cm was found at the anterior fundal area (). The portion of the stomach at the level of the tumor was devascularized. The intussusception was reduced by gently applying pressure on the body of the stomach to reduce the intussusception. Wedge resection was performed at the fundus followed by primary anastomosis. The resected segment of the stomach measured 10 cm × 4 cm and weighed 0.2 kg. Macroscopic examination showed a cream to dark brown soft tissue mass. The tumor was completely resected with at least 0.2 cm clearance (). The hematoxylin and eosin staining (H&E) showed spindle cell in the muscularis of the stomach (). On immunohistochemical analysis, the spindle cells were positive for both c-Kit protein (CD117) and CD34 but negative for smooth muscle actin and desmin (). There were less than 5 mitoses per 50 high-power fields. A diagnosis of a low-risk gastrointestinal stromal tumor of the stomach was made. The patient recovered without complications, discharged 10 days later, and has remained well and symptom-free 2 years after discharge. She was not started on imatinib mesylate due to the small size and low mitotic index of the tumor.
We identified 28 reports concerning 28 cases of intussusception due to GIST. We excluded 10 reports because they failed to report immunohistochemical (IHC) staining for CD117 or failed to report the results of the analysis discovered on GIST-1 (DOG-1) or platelet-derived growth factor receptor alpha (PDGFRA) markers for the CD117-negative tumors. Therefore, we only included 18 reports concerning 18 cases of intussusception due to GIST in the literature review. The patients were aged 34 to 95 years (mean, 60 ± 15.8 years); 72% (n = 13) were women. 56% (n = 10) of GISTs were located in the stomach, 22% (n = 4) in the jejunum, 17% (n = 3) in the ileum, and 6% (n = 1) in the duodenum. 94% (n = 17) were CD117-positive, and 6% (n = 1) were CD117-negative. In 73% of the patients, there was no palpable mass on abdominal examination. The tumor dimensions ranged from 2.2 to 15 cm (mean, 6.2 ± 3.7 cm), and the median follow-up period was 12 months (range 3–33 months). There were no tumor recurrences reported. Regarding the types of intussusception, 56% (n = 10) of the cases were gastroduodenal, 17% (n = 3) were jejunojejunal, and 17% (n = 3) were ileoileal. Ileojejunal and duodenal-jejunal each contributed 6% (n = 1). None was gastrogastric. The clinicopathological characteristics of the 18 patients are summarized in . |
pmc-6109521-1 | An 87-year-old male with medical history of paroxysmal atrial fibrillation on 20 mg of rivaroxaban daily, recent pulseless ventricular tachycardia with implantable cardiac defibrillator in situ, and nonischemic cardiomyopathy (ejection fraction 35%) presented to the emergency room (ER) with intermittent chest pain and light headedness of 2 days duration. Chest pain was exertional, left sided, and pleuritic. He also reported shortness of breath but denied cough, fever, or any other infectious. Of note, he was commenced on 200 mg amiodarone daily four months prior to presentation following an episode of syncope due to pulseless ventricular tachycardia.
Initial vital signs showed blood pressure of 89/60 mmHg with pulse rate of 59/min, temperature of 98.2°F, and respiratory rate of 14 breaths/min with normal oxygen saturation of 100% on ambient air. On physical examination, he was in no acute distress and was alert and oriented to time, place, and person. Jugular venous distention was noted on neck examination. Heart sounds were muffled, but lung fields were clear to auscultation. Peripheral pulses were also weak but palpable. |
pmc-6109525-1 | A 41-year-old African American woman presented to the emergency department (ED) with right leg pain for 2 weeks. She had a past medical history of type 2 diabetes mellitus diagnosed more than 10 years ago, end-stage renal disease (ESRD) on hemodialysis, hypertension, congestive heart failure, and recently resolved left lower extremity cellulitis. She described her right leg pain as constant, aching, stabbing pain in the right posterior mid-thigh with radiation distally to the calf. She denied any trauma or falls and reported worsening pain with weight-bearing and ambulation. She had already presented to 2 other EDs and had X-ray of the right knee and lumbar spine, venous Doppler of the right lower extremity, CT femur and right ankle-brachial index, which were normal. She had been taking oxycodone-acetaminophen without significant relief. During the current visit, she had CT angiogram of the abdomen and pelvis with lower extremity runoff, which found no vessel stenosis, but noted soft tissue and fascial edema in the right thigh. She was discharged home with analgesics and recommended follow-up with orthopedics.
The following month, patient presented to the ED again with excruciating right thigh pain. Laboratory studies were remarkable for leukocytosis 12.77 k/uL (3.7–11.0 k/uL), elevated creatinine kinase (CK) 683 U/L (42–196 U/L), C-reactive protein (CRP) 3.7 mg/dL (<0.9 mg/dL), and erythrocyte sedimentation rate (ESR) 68 mm/hr (0–20 mm/hr). Additionally, poor glycemic control was confirmed with random blood glucose of 569 mg/dL and hemoglobin A1c 13.8%. MRI of the right leg revealed diffuse subcutaneous edema in the right thigh, extending to the level of the knee, with diffusely increased T2 signal in the mid and distal thigh. Intramuscular fascial edema around the proximal hamstring muscles was noted, without any findings of abscess or osteomyelitis. Patient received analgesics, with optimization of glycemia, and was discharged home after physical therapy evaluation.
One week later, patient was readmitted after a fall. Endocrinology was consulted to address hyperglycemia. Physical examination revealed an obese woman in mild distress due to pain. She had a swollen right thigh, exquisitely tender to palpation and noticeably larger than the left. The overlying skin was palpably indurated without warmth, erythema, bullae, greyish hue, or crepitus (). Passive and active movements at the right hip and knee were limited due to pain and patient kept the right leg externally rotated. No visible cord or joint effusions at the knee or hip were noted and lower extremity pulses were palpable bilaterally. Laboratory studies were notable for persistent leukocytosis 13.60 k/uL, elevated CRP 8.4 mg/dL, ESR 117 mm/hr, and CK 714 U/L. As the inflammatory markers doubled in a short interval, repeat lower extremity MRI was obtained to rule out abscess or infectious myositis. T1-weighted imaging on MRI noted diffuse swelling and edema-like signal involving the right thigh musculature with fluid-like signal at the fascial planes without any focal fluid collection (). Altogether, these findings were suggestive of ischemic changes in the right thigh musculature. Based on the clinical history as well as labs and imaging findings, a diagnosis of diabetic myonecrosis was made. Patient was prescribed aspirin 81 mg daily, analgesics including acetaminophen and oxycodone as needed (with avoidance of NSAIDs due to ESRD), and lidocaine patch. Patient's blood glucose was targeted from 140 to 180 mg/dL with adjustments of insulin glargine and lispro. She was evaluated by physical therapy and discharged home shortly with endocrine follow-up. |
pmc-6109528-1 | A 9-year-old girl with respiratory distress, dry cough exacerbated at night and triggered by exercise, and fever for about 48 h before admission was admitted to our department. In her past medical history, she was diagnosed of previous childhood asthma at 3 years of age. Atopy history and skin prick test of aeroallergens in past medical history and records were negative. Asthma control was achieved with inhale corticosteroid and asthma treatment stopped after two years. The patient had neither had an asthma attack nor needed asthma related medication in the last 4 years of her life. Latest pulmonary function test was one year before admission, which revealed FEV1: 85%, FEV1/FVC: 91%, FVC: 93%, and PEF: 78%. The initial physical examination revealed diffuse rales and wheezing. Her vitals revealed tachypnea (respiratory rate: 32), tachycardia (pulse rate: 135), temperature of 38, and oxygen saturation levels of 80% in room air. Chest X-ray revealed perihelia infiltration. The patient was hospitalized primarily based on the impression of being plagued with asthma and pneumonia; thus, specific treatment for asthma and antibiotic therapy for pneumonia was initiated. Seventy-two hours later, antibiotics were changed from Clindamycin to Meropenem plus Vancomycin and Azithromycin. The fever subsided in the patient within 48 h and the symptoms of cough and respiratory distress improved significantly. The asthma symptoms were also improved.
The laboratory findings were as follows: white blood cell count of 10700/mL with 1% eosinophils and IgE level of 1075 IU/ml (normal range: 20-100) (). Chest CT SCAN revealed mild ground glass appearance, 72 hours later. Skin prick test was negative for aspergillosis. Bronchoscopy was carried out and bronchoalveolar lavage (BAL) secretion was analyzed for gram stain and sent for polymerase chain reaction (PCR) to check for aspergillosis, candida, and tuberculosis that all were negative. In BAL Cytometry, the most dominant cell was macrophage (75%) and less than 5% was eosinophil. The patient was discharged after 7 days with 250 micro fluticasone daily inhaler and oral prednisolone 0.5 mg/kg per day (for 2 days more) by diagnosis of asthma relapse.
Four days later, the patient was readmitted with cough, dyspnea, and diffuse bilateral wheeze. The results obtained from the physical examination were similar to previous findings except for the absence of fever. Laboratory tests revealed WBC: 14700/μl with 30% eosinophil. IgE levels were 1359 IU/mL and 1661 IU/mL in double-checking. The results of further laboratory tests are summarized in .
On the 2nd day of admission, the patient developed dyspnea and severe subcutaneous emphysema in the anterior and posterior areas of the neck. Spiral chest CT scan revealed severe pneumo-mediastinum and severe emphysema in the chest wall (). In addition, ground glass densities and findings in favor of bronchiectasis were also reported in both lungs.
Stool examination was carried out to check for eosinophilia, but the result was negative. According to the high titer of total IgE and eosinophilia, follow-up works were carried out for allergic bronchopulmonary aspergillosis (ABPA), which was negative for specific IgG (18.5mg/ml, cut-off<50) and specific IgE (<0.1IU/ml, cut-off<0/1) of aspergillosis and specific IgG (4.2, ref<113) of Candida but positive for specific IgE (0.74, cut-off <0.1) of Candida. The report of BAL bronchoscopy in previous admissions revealed the presence of Candida albicans. The patient was admitted in the intensive care unit (ICU) because of the decrease in breathing sounds and severe respiratory distress. She was once again placed on Meropenem and Vancomycin medication. As a result of progressive emphysema and decreased O2 saturation, a chest tube was inserted. Intravenous infusion (IV) of methylprednisolone 1 mg/kg/day plus IV fluconazole 6 mg/kg/day in the first day and following 4 mg/kg/day in the following days was administered. After one week, the chest tube was removed and respiratory distress was improved markedly. The patient was transferred to a ward for final diagnosis of ABPM with a high dose of Itraconazole (200mg twice daily) and high doses of oral prednisolone (0.75 mg/kg per day divided twice daily) and was discharged after 10 days. The same doses of Prednisolone and Itraconazole were continued on the patient using the same doses; and Fluticasone plus Salmetrol inhaler spray (250micro/day divided twice daily) and oral Montelukast were also prescribed for relieving severe asthma attack. Oxygen supplement according to oxygen saturation assay was also recommended. In further follow-up, after one month, the patient's general condition improved significantly and the use of oxygen was no longer necessary. The IgE level decreased to 255 IU/mL and the patient had normal social activity and normal lung sounds. After 2 months, by decreasing prednisolone dose to 25%, asthma symptoms worsened; therefore, uptitration of prednisolone was carried out to reach the previous administered doses. After 3 months, prednisolone was tapered by 25% every four weeks; and after 4 months, the patient stopped receiving prednisolone with good asthma control and IgE level of 86 IU/mL. The total eosinophil count decreased to 100/μl in the peripheral blood sample. After 6 months, asthma medication decreased to 125 Fluticasone per day as the doses were needed for mild persistent asthma. Thus, good asthma control was achieved. After passing 6 months, all drugs were stopped and no other respiratory complaint has been reported in the last 4 months. |
pmc-6109530-1 | A 28-year-old female complained of an intraoral swelling in the lower left region. This swelling appeared few months ago. There was a complaint of bleeding on brushing without pain. Regarding her medical and dental history, she was suffering from ossifying fibroma at the left premolar-molar region of the mandible (). It was excised and simultaneously rehabilitated by a FRF of iliac crest in 2013 ().
The oral examination revealed that an erythematous exophytic sessile lesion with granulomatous appearance and soft-elastic consistency on the lower left retromolar region. This lesion developed after approximately 2 years of the reconstruction by FRF ().
A presence of mechanical irritation at the lesion area related to the upper second left molar was observed. Radiographic investigation did not show any bone resorption in relation to the lesion.
The provisional diagnosis was probably a reactive lesion like PG or peripheral giant-cell granuloma. Routine blood tests, exclusion of dysplasia by cold-blade incisional biopsy, and elimination of contributing triggering factors were done. Smoothing of the cusp tips of the upper left second molar was done in addition to improvement of the oral hygiene.
Complete excision of the lesion by CO2 laser was performed under local anesthesia with the help of Allis forceps. The histological examination of the excised lesion confirmed the diagnosis of PG (). |
pmc-6109530-2 | A 58-year-old male had a history of ameloblastoma at the right side of the body of the mandible. Excision and hemimandibulectomy were performed in 2011 with simultaneous reconstruction by a FRF of the iliac crest. It was rehabilitated with five prosthetic implants eight months later. He came for consultation of an intraoral swelling in the lower right area that appeared a few months ago after about 3 years of the reconstruction by FRF.
The oral examination showed an exophytic lesion, mostly sessile with granulomatous appearance and soft-elastic consistency related to the implants in the right incisors bicuspids region, from the lower right central incisor region to the first molar region on the same side. The radiographic investigation did not show any bone resorption in relation to the lesion around the implants.
Routine blood tests, exclusion of dysplasia by cold-blade incisional biopsy, and elimination of contributing triggering factors were performed. It was suggested that the triggering factor was the poor oral hygiene, thus the prosthetic crowns and bridge were removed for three weeks to facilitate the control of bacterial infection and to promote better tissue regeneration. Complete excision of the lesion by CO2 laser was performed under local anesthesia with the help of suture 3-0.
Another surgical intervention was performed with CO2 laser for recontouring the gingiva around the implants and to facilitate the cementing of implant prosthesis.
In the three-month follow-up visit, a recurrence was observed. A further intervention was performed by CO2 laser, with motivating the patient on the importance of maintaining the oral hygiene measures in order to ascertain the complete elimination of triggering factors. The histological examination confirmed the diagnosis of PG. |
pmc-6109530-3 | A 19-year-old male was referred for consultation of a painless mass in the right retromolar area that developed few weeks ago. The medical and dental history revealed that in 2015 an excision of moderately differentiated mucoepidermoid carcinoma at the upper right posterior molar region and hemimaxillectomy were carried out with simultaneous reconstruction by a FRF of the iliac crest (Figures and ).
The oral examination revealed an exophytic, mostly pedunculated lesion, with irregular granulomatous appearance and elastic consistency on the lower right retromolar area related to a partially erupted lower right third molar (). The radiographic investigation did not show any bone resorption at the site of the lesion.
Routine blood tests, exclusion of dysplasia by cold-blade incisional biopsy, and elimination of contributing triggering factors were performed. It was decided to excise the lesion by CO2 laser under local anesthesia and to extract the lower right third molar which might be the cause of chronic irritation.
The histological examination revealed a benign lesion with vascular structures and diffuse inflammatory infiltrate of granulocytes and neutrophils (). |
pmc-6109530-4 | A 21-year-old male was examined in our outpatient clinic complaining of a painless swelling in the upper left posterior region. Regarding his medical and dental history, left hemimaxillectomy, adenoidectomy, and partial removal of zygoma were carried out in 2001 due to a rhabdomyosarcoma in the left maxillary sinus. It was simultaneously reconstructed by a FRF of iliac crest, followed by radiotherapy and chemotherapy before and after the surgical intervention.
The oral examination showed exophytic, mostly pedunculated lesion with irregular granulomatous appearance and elastic consistency on the upper left posterior region related to the buccal flange and the fitting surface of the upper removable partial denture (RPD). The radiographic investigation did not show any bone resorption at the site of the lesion.
Contributing triggering factor was the poor stability of RPD. It was decided not to wear the RPD for two weeks. Routine blood tests, exclusion of dysplasia by cold-blade incisional biopsy, and the excision of the lesion by CO2 laser under local anesthesia were performed. The histological examination revealed a benign lesion with vascular structures and diffuse inflammatory infiltrate of granulocytes and neutrophils, in addition to focal aspects of abscess formation.
Deepening of the buccal vestibule by CO2 laser after the three-week follow-up has been done responding to a request from the prosthodontic department, to remake the RPD with better stability. |
pmc-6109540-1 | A 42-year-old female presented to us with a primary complaint of pain in the left side of her face for 3 yrs. The pain was spontaneous and oppressive in nature. She had a history of burning, a pricking type of dysesthesia (pins and needles feeling), intermittent in nature and radiated to the left temporal and orbital region. The unremitting nature of pain often made her feel anxious and agitated with lack of sleep. No trigger factors and aggravating or relieving factors were disclosed in the history. She narrated a history of uneventful extraction of a decayed upper third molar and a restoration of carious tooth citing as a possible source of pain by her dentist.
Her medical history was unremarkable except the ingestion of a cocktail of medicines alternating from analgesics, antibiotics, steroids, and antidepressants prescribed by multiple physicians for the unremitting chronic pain she was experiencing. An array of investigations was performed ranging from MRI brain, OPG, and cephalograms that turned out to be inconclusive. Vascular decompression, central pontine dysfunction, skull base, and metastatic tumor were ruled out following the normal slices seen in MRI and CT. Routine chair side diagnostic tests were done to rule out odontogenic pain.
On clinical examination, a sharp localized pain in the hamular region was evident on palpation due to the elongated hamular process that had a knife-edge bony projection (). The overlying palatal mucosa had no change in color or texture. A local anesthetic (1 ml of 2% lidocaine) infiltration was injected with subsequent impermanent relief of symptoms in a localized area. Her oral examination was nonremarkable on the affected left side with deep dentinal caries with respect to 18 () and pulp stones with respect to 16 on the right side (). Blood investigations carry less significance except in the possible diagnosis of cranial arteritis and for autoimmune disorders such as Sjogren's syndrome.
Following a failure of conservative remedies in the past, a prominent elongated hamular process (18.53 mm) noticed on a cone beam computed tomography: axial section (), 3-D reconstructed view (), and a positive diagnostic block [], we opted for a surgical shaving in pursuit of pain relief ().
A longitudinal incision of the mucosa was planned along with dissection up to the pterygoid hamulus followed by resection of the hamulus from its base. The gross specimen measured 13 mm in length and its shape resembled an arrowhead (). |
pmc-6109551-1 | An 86-year-old female, with a history of hypertension, type 2 diabetes mellitus, hiatus hernia, and diverticulosis, attended the hematology clinic in February 2003 for evaluation of lymphocytosis. Physical examination revealed neither lymphadenopathy nor organomegaly. The hemoglobin concentration was 11.4 g/dL, leukocyte count was 16.1 × 109/L with 60% lymphocytes, mean corpuscular volume (MCV) 88.4 fL, and platelet count 332 × 109/L. LDH was 569 units, mild IgG paraproteinemia (1130 mg/dL). Phenotypic analysis of blood lymphocytes by flow cytometry revealed CD5/19+ coexpression of 78% of the lymphocytes. No bone marrow biopsy was done. On abdominal ultrasound from June 2002, the spleen length was 9 cm. All these findings were suggestive for the diagnosis of CLL, Rai stage 0/Binet stage A.
The patient was followed up for 27 months, during which progressive disproportionate splenomegaly (15 cm) with progressive rise in serum LDH (999 units) developed. In addition, the patient complained of anorexia and 30 kg weight loss. Physical examination revealed an enlarged spleen approximately 6 cm below the costal margin, but no palpable lymphadenopathy or hepatomegaly. Complete blood count showed hemoglobin concentration of 11.3 g/dL, leukocyte count of 19.8 × 109/L with 58% lymphocytes, and platelet count of 240 × 109/L. Peripheral blood smear revealed teardrop-shaped and nucleated red blood cells and immature cells of the myeloid lineage. Bone marrow biopsy revealed a hypercellular bone marrow with increased reticulin stain and fibrosis (). A karyotype from the bone marrow showed chromosomal abnormalities of trisomy 9 (+9) and t (1; 6) (). All findings were compatible with the diagnosis of myelofibrosis. The presence of the JAK-2 mutation was not examined at the time of diagnosis. Cytometric analysis of blood lymphocytes showed a majority of B cells (77% CD19+, 80% CD20+, and 42% CD22+). The patient was lost to follow-up for 2 years and admitted to the internal medicine department three times, two years later. Patient's last admission was due to anorexia, weight loss, dysphagia, and recurrent aspirations. Complete blood count showed normocytic anemia and stable lymphocytosis. Peripheral blood smear was compatible with bone marrow fibrosis. Imaging studies showed massive splenomegaly (, about 28 cm on CT scan). With a diagnosis of suspected PMF presenting with massive splenomegaly, the patient was advised to be treated with ruxolitinib, a JAK-2 inhibitor. The patient refused to take any treatment and died due to infection. After her death, JAK-2 V617F mutation analysis was positive in the bone marrow biopsy that revealed bone marrow fibrosis, assuring the diagnosis of PMF. |
pmc-6109557-1 | An 88-year-old woman presented with a change in the bowel habit. A colonoscopy showed some diverticular disease. The CT scan showed splenomegaly and some lymphadenopathy particularly in the region of the splenic hilum. The liver, kidney, pancreas, and adrenals were normal. She had a past history of osteopenia, type II diabetes, and fragility fracture. She was taking vitamin B12, vitamin D, and bisphosphonates. There was no history of sweating, weight loss, bruising, or recent infections. Her biochemistry and hematology at diagnosis and 3 months after diagnosis are summarised in Tables and .
Gel protein electrophoresis and immunofixation () and capillary zone electrophoresis and immunotyping (Figures and ) (Sebia, UK) identified 2 γ-heavy chains. Both methods were negative for kappa and lambda light chains. Differing sensitivities of heavy and light chain reagents can cause false-negative results for light chain immunofixation, and the results were confirmed by a second gel electrophoresis (Helena, UK) method. Urine immunofixation identified a γ-heavy chain ().
Total IgG (determined by immunoturbidimetry on the Binding Site SPA-plus analyser) was elevated at 38.7 g/L (RR 7–16), with decreased levels of IgA and IgM (). IgG1 subclass levels were elevated, and other subclass levels were lower than the reference range (). Serum-free light chain ratios (determined by the Binding Site method, UK) were within the reference range (). HevyLite (Binding Site, UK) measurements are specific for individual heavy chains with either kappa or lambda light chains and can provide more specific information than individual immunoglobulin quantitation. Observed increased heavy chain pair ratios (e.g., IgMkappa/IgMlambda) can be indicative of clonal expansion. IgGkappa/IgGlambda ratios were within the reference range confirming the absence of clonal expansion of IgGkappa/IgGlambda intact immunoglobulins ().
In a previous study, HevyLite reagents which did not recognise intact IgG immunoglobulin ratios ((IgGkappa + IgGlambda)/total IgG) were used as indirect measures of heavy chain fragmentation []. The ratio of 0.04 in this patient was less than the average value of 0.18 found in the previous study [].
Bone marrow biopsy showed subtle infiltrates by low-grade B-NHL, associated with groups of clonal plasma cells, which expressed neither kappa nor lambda chain but stained with IgG heavy chain (Figures –). Lymphatic infiltrate was surrounded by a rim of CD138+ plasma cells. Though there was equal expression of kappa and lambda light chains, the sum of kappa- and lambda-positive cells appeared to be much less than the number of CD138+ cells which indicated that most plasma cells do not express light chains.
The patient is currently monitored on a 3-monthly basis. |
pmc-6109557-2 | Patient 2 is an 81-year-old lady under treatment for WM (IgMkappa paraprotein). Details of her treatment are given in . Capillary zone electrophoresis prior to the development of γ-HCD is shown in . Gamma heavy chain developed during treatment and an unusually diffuse γ-heavy chain band was identified by gel electrophoresis () and capillary zone electrophoresis (Figures and ) (Sebia, UK) and confirmed by a second gel electrophoresis method (Helena, UK). Urine immunofixation identified the γ-heavy chain and kappa light chain ().
Her biochemistry and hematology prior to the development of γ-HCD and during follow-up are given in Tables and . HevyLite measurements confirmed an IgMkappa paraprotein, and ratios of IgGkappa/IgGlambda were within the reference range, confirming increased IgG measurements were due to the IgG heavy chain (). The ratio of ((IgGkappa + IgGlambda)/total IgG) was 0.096.
The serum-free light chain ratio was elevated secondary to the presence of IgMkappa paraprotein (). Her total IgG levels were increased at 35.1 g/L, at diagnosis of γ-HCD, with suppressed IgA and an IgMkappa paraprotein of 10.7 g/L (Tables and ). IgG1 subtype was elevated, and other IgG subtypes were either decreased or at the lower reference range (). She is currently under observation for ibrutinib treatment.
Her bone marrow results are shown in Figures and and in the Supplementary Material (). Lymphoma cells were CD5−, CD20+, and partially CD79a+, CD10+, CD23+, CD56+, and CD138+. A second CD56+ plasma cell clone most likely to be the γ-heavy chain producer was identified. Bone marrow histology identified lymphoplasmacytic lymphoma/WM, which appeared as IgM/kappa plus another population of scattered plasma cells, occasionally expressing IgG and/or lambda. |
pmc-6109559-1 | A 55-year-old male patient presented with a history of hypertension and type 2 diabetes mellitus. He developed end-stage renal disease (ESRD) and was started on hemodialysis in July 2016. In August 2016, he underwent a living unrelated kidney transplantation in another country. He received induction therapy with antithymocyte globulin and was subsequently maintained on a triple immunosuppressive regimen consisting of tacrolimus, mycophenolate mofetil, and prednisone. His postoperative course was complicated by the development of a perinephric hematoma, acute tubular necrosis, and urinary tract infection with extended-spectrum beta-lactamase producing Escherichia coli. Evacuation of the hematoma was performed using percutaneous drainage. In January 2017, he developed fever and abdominal pain localized to the kidney graft. Ultrasonography showed complex fluid collection surrounding the kidney measuring 20 × 9 × 8 cm. A percutaneous drain was inserted and revealed purulent fluid. Gram stain of the fluid showed many white cells and rare Gram-positive bacilli. Calcofluor white stain and KOH method showed fungal elements. The fluid culture was positive for Fusarium species ().
There were no skin lesions, and the blood culture was negative. The immunosuppression regimen was modified with discontinuation of mycophenolate mofetil and reduction of the dose of tacrolimus. In addition, the patient was started on voriconazole at a maintenance dose of 4 mg/kg every 12 hours. After completing a treatment period of five months, the infection was considered cured and voriconazole was discontinued. Repeat ultrasound showed remnant cavity with septations. No adverse events were noted during the treatment period. The patient remained free of recurrent infection, and the kidney graft function remained stable with a serum creatinine of 0.9 mg/dl (normal range 0.7–1.2) 18 months after transplantation. |
pmc-6109562-1 | The patient was a 60-year-old woman (case number 3 on ). There was one elevated lesion on both the left side wall and the right wall of the second part of duodenum (), and because biopsy findings were suspected of adenocarcinoma, the patient visited our department for treatment. Along with small lesions for which biopsy was not performed, two lesions were collectively excised using UW-EMR (). Four clips were used on the resected surface and one for plication. The postoperative course was favorable, and complications such as bleeding and perforation were not observed, even after resuming eating. She was discharged on postoperative day eight. Lesions in which adenocarcinoma was suspected during preoperative biopsy were revealed to be adenocarcinoma by the final pathological diagnosis of the resected specimens (Figures and ), and the final pathological diagnosis of the other lesions was adenoma (Figures and ). Follow-up endoscopic examination, which was performed one month after the UW-EMR, showed wound scarring in both lesions, and endoscopic findings suggesting recurrence were not observed (Figures and ). Endoscopic examination subsequently performed at 6, 12, and 21 months after treatment revealed no recurrence (). |
pmc-6109563-1 | A 28-year-old nulligravid Japanese woman was referred to Kumamoto University Hospital at 34 weeks of gestation because of symmetrical fetal growth restriction (FGR). In her family, there was no history of toxoplasmosis; rubella, cytomegalovirus, and herpes simplex virus infections; drug ingestion; consanguineous marriage; or genetic diseases. Her healthy partner had a familial trend of being small for gestational age (SGA) at birth. Cesarean section was performed at 37 weeks of gestation due to FGR and nonreassuring fetal status. A female infant weighing 1,498 g (−3.4 SD) was born with Apgar scores of 8 and 9 at 1 and 5 min, respectively. The newborn infant required 0.25–0.5 L/min nasal oxygen soon after birth, and her chest X-ray examination () 1 day after birth revealed left CDH. Sac-type CDH was suspected on magnetic resonance imaging (MRI) at 21 days after birth (). Radical operation for CDH was performed at 30 days after birth, and the diagnosis of left sac-type CDH was confirmed. No associated abnormalities were detected. The postoperative course and subsequent development of the baby were uneventful except for insufficient postnatal catch-up growth.
Following a miscarriage in the first trimester, the mother was referred to our hospital at 30 weeks of gestation for appropriate management of FGR 5 years after her first parturition. Obstetric sonography showed polyhydramnios and a simple, smooth cystic lesion in the left dorsal thorax, with the fetal heart displaced to the right side (). No associated malformations were detected. These findings suggested that the fetus had sac-type CDH. MRI revealed that the stomach and spleen were herniated into the sac-type CDH of the left chest (). The right lung–head ratio was 1.64, suggesting severe pulmonary hypoplasia after birth.
Elective cesarean section was performed at 38 weeks of gestation under general anesthesia. A male infant weighing 1,875 g (−3.5 SD) with an Apgar score of 1 at both 1 and 5 min was delivered. He was intubated immediately after birth, and oxygenation with intermittent positive-pressure ventilation was maintained. Furthermore, administration of catecholamine was required to maintain his blood pressure. On the first day after birth, surgical repair of CDH was performed. The left diaphragm was extended into the thorax, and the colon, spleen, and stomach were herniated into the sac. No associated abnormalities were detected. His postoperative course and subsequent development were also uneventful except for short stature. The parents did not wish to have chromosomal or genetic analysis performed on either sibling. |
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