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Discovery of inherited blood group substances in the saliva has usually followed discovery of the antigen on red cells. This is primarily because the antibody for the red cell antigen is first discovered and investigated. Thereafter, when saliva is studied in hemagglutination-inhibition tests with the antibody, antigen might be identified. Such was the case in ABO (616093), Lewis (111100) and Sd (111750). Balding and Gold (1973) described a 'new' substance secreted in the saliva and recognized by using, not an antibody but a 'receptor specific protein', a hemagglutinin from Clostridium botulinum, type C. They called the trait Sal (CbC), and found reason to think that in Caucasians the frequency of the dominant allele is about 0.73. This may represent a hereditary saliva group that has no 'blood group' counterpart. Others may well exist.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE | c1867056 | 2,100 | omim | https://www.omim.org/entry/180950 | 2019-09-22T16:35:05 | {"omim": ["180950"]} |
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
## Epidemiology
Prevalence is reported to be 1/3,000 live births. NF1 is reported in many ethnic groups and affects males and females equally.
## Clinical description
The clinical features are highly variable, even within the same family. Multiple café-au-lait macules are found in almost all patients (some at birth and most before the first year). Intertriginous freckling develops starting at 5 years of age. Multiple cutaneous and subcutaneous neurofibromas develop in adults. In older patients, they continue to increase in number and size. Cutaneous neurofibromas do not become malignant. Plexiform neurofibromas (growing along the nerve and its branches) may cause disfigurement, pain, and functional problems and are usually present at birth and may become malignant later in life. Ocular manifestations include optic pathway gliomas and iris hamartomas (Lisch nodules). Optic pathway gliomas usually develop before age 6 years, and rarely progress thereafter. Osteopenia, osteoporosis, bone overgrowth, short stature, macrocephaly, scoliosis, skeletal dysplasia (sphenoid wing, vertebral), and pseudoarthrosis may be present. Other features include hypertension, vasculopathy, intracranial tumors, malignant peripheral nerve sheath tumor (MPNST; see this term), and occasionally seizures or hydrocephalus. Intellectual development is usually not severely affected but cognitive deficits and learning difficulties are frequent (50%-75%). The overall cancer risk is higher than the general population (lifetime risk of 10-12% for MPNST, mostly between 20-40 years; increased risk of breast cancer before age 50). Familial spinal and segmental forms of NF1 have been described. Watson syndrome forms part of the NF1 spectrum. Neurofibromatosis-Noonan syndrome is a variant of NF1 in 99% of cases (see these terms).
## Etiology
NF1 is caused by mutations in the tumor suppressor neurofibromin 1 NF1 gene (17q11.2) and rarely by 17q11 microdeletion (only 5%).
## Diagnostic methods
Formal diagnostic criteria have been established. 2 or more of the following are diagnostic: more than 5 café-au-lait macules, 2 or more neurofibromas or one plexiform neurofibroma, optic glioma, freckling, 2 or more Lisch nodules, specific bone dysplasias, first-degree relative. Magnetic resonance imaging can determine the extent of plexiform neurofibromas. Molecular genetic testing can be requested but is mostly not needed.
## Differential diagnosis
Legius syndrome (see this term) is often clinically indistinguishable from NF1 and is seen in about 2% of people fulfilling NF1 diagnostic criteria. There are however a small number of individuals with NF1 who like Legius syndrome patients do not develop non-pigmentary manifestations. Constitutional mismatch repair deficiency syndrome should be considered. Other differential diagnoses include McCune-Albright syndrome, Noonan syndrome with lentigines and Proteus syndrome. Most cases of multiple non-ossifying fibromatosis are cases of NF1 (see these terms).
## Antenatal diagnosis
Prenatal and preimplantation genetic testing for at-risk pregnancies is possible
## Genetic counseling
The mode of inheritance is autosomal dominant. 1 in 2 cases is caused by de novo NF1 mutations. Penetrance is 100% but disease manifestations vary widely, complicating genetic counseling.
## Management and treatment
Specific cardiovascular, ocular, neurological and orthopedic manifestations should be treated by corresponding specialists. Cutaneous or subcutaneous neurofibromas can be removed surgically. Plexiform neurofibromas are far more difficult to treat.
## Prognosis
Overall prognosis is good but significant morbidity is common. MPNST generally has a poor prognosis. Malignancy and vascular disease are the most common causes of early demise.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Neurofibromatosis type 1 | c0027831 | 2,101 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=636 | 2021-01-23T18:08:23 | {"gard": ["7866"], "mesh": ["D009456", "C538607"], "omim": ["162200", "162210", "613675"], "umls": ["C0027831"], "icd-10": ["Q85.0"], "synonyms": ["NF1", "Von Recklinghausen disease"]} |
Pulling boat hands is a cutaneous condition that results from rowing in cold, wet conditions.[1]
## See also[edit]
* Postmiliarial hypohidrosis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
This dermatology article is a stub. You can help Wikipedia by expanding it.
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* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
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*[NOP]: Nociceptin receptor
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*[SSRIs]: Selective serotonin reuptake inhibitors
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| Pulling boat hands | None | 2,102 | wikipedia | https://en.wikipedia.org/wiki/Pulling_boat_hands | 2021-01-18T18:35:22 | {"wikidata": ["Q7259470"]} |
Absence of the breast and nipple
Amastia refers to a rare clinical anomaly in which both breast tissue and nipple are absent. Amastia can be either isolated or complicated with other syndromes such as ectodermal dysplasia, syndactaly (Poland's syndrome) and lipoatrophic diabetes.[1] This abnormity can be classified into various types and each could cause different pathologies.[2] Amastia differs from amazia and athelia. Amazia refers to the absence of one or both mammary glands but the nipples remain present. While athelia refers to the absence of one or both nipples, but the mammary gland remains.[3]
Amastia is presumably due to failure of embryologic mammary ridge development, or incomplete involution. People with amastia often suffer from ectodermal defects, which include various syndromes such as cleft palate, isolated pectoral muscle and abnormal formation of upper limb.[4]
Treatment for female amastia particularly includes psychological guidance and breast reconstruction.[1] Since having breast represents the ability to nursing, amastia may compromise the mental and physical health for female patients. Often patients with amastia, finally decided not to seek for medical treatment due to the misconception about this disease and corresponding treatment. Proper counselling and surgery are required to enable the normal adult life of these individuals.[5][6]
## Contents
* 1 Classification
* 2 Signs and symptoms
* 3 Associated syndromes
* 3.1 Ectodermal dysplasia
* 3.2 Poland's syndrome
* 3.3 Al Awadi/Raas-Rothschild syndrome
* 3.4 Scalp-ear-nipple syndrome
* 4 Mechanism
* 5 Causes
* 6 Genetics
* 7 Management
* 7.1 Breast reconstruction
* 7.2 Nipple areola relocation
* 8 See also
* 9 References
* 10 External links
## Classification[edit]
Amastia can be either iatrogenic or congenital.[1] The congenital amastia are further divided into syndromic type and non-syndromic type respectively.
As the definition suggests, syndromic amastia is often associated with obvious symptoms. The common case is hypoplasia of ectodermal tissue, such as hair and skin defects.
On the other hand, non-syndromic amastia, shows no defects in body parts other than breast. This type of amastia can be further classified into unilateral and bilateral amastia. Unilateral amastia can be defined as amastia involving only one side of breast, while bilateral type refers to amastia on both sides of breast.[6] Unilateral amastia is less common than bilateral amastia. Almost all the non-syndromic amastia patients are female.[7]
## Signs and symptoms[edit]
Typically, amastia patients have both their nipple and areola missing, and the nipple may be absent on one or both sides of the breasts. Abnormalities are not often associated with the breasts. However, symptoms such as hypertelorism, saddle nose, cleft palate, urologic disorders and dysfunction of muscle, upper and lower limb have been observed. Sometimes several members of a family can be diagnosed as amastia simultaneously, all of them are carriers of mutations in TBX3 gene. This mutation could cause various abnormalities, not only amastia, but also deformation of limb and teeth.[4][7]
Cases of unilateral amastia are uncommon, and they are often associated with hypoplasia of pectoral major muscle and/or the thorax. Bilateral amastia is more common because it is often associated with other different syndromes. Therefore, the symptoms of bilateral amastia are easier to be diagnosed.[6] Various associated syndromes are listed below.
## Associated syndromes[edit]
Amastia, particularly if it is bilateral, often related to various syndromes, including ectodermal dysplasia and Poland's syndrome, which is characterised by anomalies of underlying mesoderm and abnormal pectoral muscle respectively.[8] Other syndromes, such as FIG4 associated Yunis Varon syndrome (MIM 216340), acro-der-mato-ungual-lacrimal-tooth (ADULT) syndrome, TP63 associated limb mammary syndrome (MIM 603543), TBX3 associated ulnar syndrome (MIM 181450) and KCTD1 associated scalp-ear-nipple syndrome (MIM 181270) have also been clinically observed.[3]
### Ectodermal dysplasia[edit]
Ectodermal dysplasia is commonly associated with syndromic amastia. The symptoms of ectodermal dysplasia can be referred to abnormal development of several ectodermal-derived structure such as hair, teeth, nails and sweat glands. Other symptoms may include the inability to sweat, vision or hearing loss, missing or underdeveloped fingers or toes and maldevelopment of breast tissue. Genetic mutations may cause ectodermal dysplasia, and these genes can pass from parents to children. The most common case is the mutation of EDA1 gene which is in X chromosome, and this mutation results in X-linked form hypohidrotic ectodermal dysplasia (XLHED). There is strong association between amastia and XLHED. Over 30% male patients with XLHED have absent nipples. 79% female carriers decrease the ability of breastfeeding. This suggests people with amastia should have a comprehensive skin test to exclude this syndrome.[8]
### Poland's syndrome[edit]
Poland's syndrome is a genetic disorder associated with abnormal breast development. The prevalence rate of this syndrome is approximately 1 in 20000 to 30000. Both chest wall and upper limb lost normal function, and this syndrome usually occurs unilaterally. Mild and partial forms of Poland's syndrome are common, which often been undiagnosed because the clinical feature is only breast asymmetry and a horizontal anterior axillary fold, without severe symptoms. Other abnormalities include deformation of ribs, absence of pectoralis muscle, hypoplasia or abnormalities of breast and subcutaneous tissue. Patients may also have webbed fingers on one hand, short bones in the forearm or sparse underarm hair.[2][9]
### Al Awadi/Raas-Rothschild syndrome[edit]
Al Awadi/Raas-Rothschild syndrome is a rare genetic disorder. Symptoms are often associated with absence or maldevelopment of skeletal part of limbs.[5]
### Scalp-ear-nipple syndrome[edit]
As the name suggests, Scalp-ear-nipple syndrome is characterized by congenital absence of skin, abnormalities of scalp, malformation of ear structures, and undeveloped nipples.[5]
## Mechanism[edit]
Amastia occurs as a result of failed development of the mammary ridge, which impairs the normal formation of breast tissue and nipple
Mammary glands are arranged in breasts of the primates to produce milk for feeding offspring. They are enlarged and modified sweat glands. In the embryological development, mammary glands firstly appear after six weeks of pregnancy in the form of ectodermal ridges. The ectodermal ridge grows thicker and compresses to form mesoderm. As the proliferation persists, mesodermal layer continues to form clusters. The clusters grow and become lobules. At the same time, the clusters also form a pit, which protrudes to generate the nipples. Impairment in some of these processes may cause aplasia of the breast tissue, which may result in amastia.[6]
For example, in normal condition, mammary ridge (milk line) would extend from the bilateral axillary tail to the inguinal region. If this extension does not occur in normal way, the breast would not develop successfully.[4][8]
Amastia may also be caused by the inability of producing parathyroid hormone related protein. The absence of this protein will disrupt the normal development of mammary gland. Therefore, when amastia patients receive medical ultrasound examination, asymmetry or disproportioned mammary tissue may be found.[5]
## Causes[edit]
Unilateral amastia is usually caused by Poland's syndrome, which is characterized by one side absence of breast. The absence or dysfunction of pectoralis muscle and ribs are common case. It can also be part of other syndromes as described in the previous contents.
Other causes may include intra-uterine exposure to teratogenic drugs such as dehydroipiandrosterone and methiamozole/carbimazole treatment during first trimester.[1]
For bilateral amastia, the cause has not been well understood so far. It may be related to gene mutation since often patients with bilateral amastia are diagnosed as autosomal dominant and recessive inheritance. Decreasing blood flow in the subclavian artery may also be a cause of amastia.[1]
Amastia can also be caused by injuries. These injuries may happen when patients receive surgery, such as thoracotomy, chest tube placement, or when they are treated by radiotherapy. Improper biopsy or severe burns of breast tissue may also result in amastia.[10]
## Genetics[edit]
Congenital amastia can be associated with both autosomal dominant and recessive inheritance. However, in clinical research, autosomal recessive heritage amastia is uncommon.[3]
Mutation of genes may disrupt the normal process and results in abnormity of breast. The protein tyrosine receptor type F gene (PTPRF) is particularly important in nipple-areola region development. PTPRF encodes protein phosphatase which can localize at adherent junction. This phosphatase may also regulate epithelial cell to enable cell- cell interaction. PTPRF is also responsible for growth factor signalling and Wnt pathway. Homozygous frameshift mutation in PTPRF may cause amastia, which suggests the causative relationship between PTPRF defect and syndromic amastia.[3]
## Management[edit]
Since bilateral and unilateral amastia may be attributed to different pathologies, appropriate managements should be adopted accordingly. Bilateral amastia can occur in isolation or associated with other disorders. This case is less understood and difficult to treat. On the other hand, Poland's syndrome is the most common cause of unilateral amastia. Managements such as muscle/breast reconstruction and nipple areola relocation should be provided to these patients.[2]
### Breast reconstruction[edit]
Surgical treatment for breast defects such as mastectomy is also applicable to treat patients with amastia. Tissue expansion is the most common technique and can be done by using either autologous or prosthetic tissue. For autologous reconstruction, different tissues may be chosen according to patients’ physical condition or their preferences. Prosthetic reconstruction may follow the same principles.[2] Flap reconstruction is another method to rebuild the breast surgically. There are various kinds of flaps to choose depending on different situation.[6]
### Nipple areola relocation[edit]
Amastia is often associated with Poland's syndrome, which requires appropriate reconstructive procedure to stabilize chest wall, transfer dynamic muscle and reposition nipple areola region. The treatment of nipple areola relocation provides space for secondary breast enlargement. In this treatment, the tissue expander can be inserted either beforehand or delayed. It can be placed in different parts of body depending on how many overlying soft tissues the patient has. In order to guide the dissection and make sure the correct location of these tissues, marking of the inframammary crease is required before operation.[2]
## See also[edit]
* Amazia
* Athelia
* Micromastia
## References[edit]
1. ^ a b c d e Patil LG, Shivanna NH, Benakappa N, Ravindranath H, Bhat R (October 2013). "Congenital amastia". Indian Journal of Pediatrics. 80 (10): 870–1. doi:10.1007/s12098-012-0919-1. PMID 23255076.
2. ^ a b c d e Caouette-Laberge L, Borsuk D (February 2013). "Congenital anomalies of the breast". Seminars in Plastic Surgery. 27 (1): 36–41. doi:10.1055/s-0033-1343995. PMC 3706049. PMID 24872738.
3. ^ a b c d Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Nürnberg G, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Nürnberg P, Foley J, Kubisch C, Basel-Vanagaite L (August 2014). "Homozygous truncating PTPRF mutation causes athelia". Human Genetics. 133 (8): 1041–7. doi:10.1007/s00439-014-1445-1. PMID 24781087.
4. ^ a b c Carr RJ, Smith SM, Peters SB (2018). Primary and Secondary Dermatologic Disorders of the Breast. The Breast. Elsevier. pp. 177–196.e7. doi:10.1016/b978-0-323-35955-9.00013-1. ISBN 9780323359559.
5. ^ a b c d Ishida LH, Alves HR, Munhoz AM, Kaimoto C, Ishida LC, Saito FL, Gemperlli R, Ferreira MC (September 2005). "Athelia: case report and review of the literature". British Journal of Plastic Surgery. 58 (6): 833–7. doi:10.1016/j.bjps.2005.01.018. PMID 15950955.
6. ^ a b c d e Hatano A, Nagasao T, Sotome K, Shimizu Y, Kishi K (May 2012). "A case of congenital unilateral amastia". Journal of Plastic, Reconstructive & Aesthetic Surgery. 65 (5): 671–4. doi:10.1016/j.bjps.2011.09.025. PMID 22051444.
7. ^ a b Sun SX, Bostanci Z, Kass RB, Mancino AT, Rosenbloom AL, Klimberg VS, Bland KI (2018). Breast Physiology. The Breast. Elsevier. pp. 37–56.e6. doi:10.1016/b978-0-323-35955-9.00003-9. ISBN 9780323359559.
8. ^ a b c Al Marzouqi F, Michot C, Dos Santos S, Bonnefont JP, Bodemer C, Hadj-Rabia S (September 2014). "Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia". The British Journal of Dermatology. 171 (3): 671–3. doi:10.1111/bjd.13023. PMID 24689965.
9. ^ Mansel, R.E.; Webster, D.J.T.; Sweetland, H.M.; Hughes, L.E.; Gower-Thomas, K.; Evans, D.G.R.; Cody, H.S. (2009), "Congenital and growth disorders", Hughes, Mansel & Webster's Benign Disorders and Diseases of the Breast, Elsevier, pp. 243–256, doi:10.1016/b978-0-7020-2774-1.00019-0, ISBN 9780702027741
10. ^ Brandt ML (2012). "Disorders of the Breast". Pediatric Surgery (7th ed.). Elsevier. pp. 771–778. doi:10.1016/b978-0-323-07255-7.00061-1. ISBN 9780323072557.
## External links[edit]
Classification
D
* ICD-10: Q83
* ICD-9-CM: 611.8, 757.6
* OMIM: 113700
External resources
* eMedicine: ped/2944
* v
* t
* e
Congenital malformations and deformations of the breast
Breast
* Amastia
* Polymastia
* Micromastia
* Symmastia
Nipple
* Athelia
* Polythelia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Amastia | c0432357 | 2,103 | wikipedia | https://en.wikipedia.org/wiki/Amastia | 2021-01-18T18:38:06 | {"gard": ["9489"], "mesh": ["C562989"], "icd-9": ["757.6", "611.8"], "icd-10": ["Q83"], "wikidata": ["Q2080253"]} |
Preiser disease
Scaphoid bone
Preiser disease, or (idiopathic) avascular necrosis of the scaphoid, is a rare condition where ischemia and necrosis of the scaphoid bone occurs without previous fracture. It is thought to be caused by repetitive microtrauma or side effects of drugs (e.g., steroids or chemotherapy) in conjunction with existing defective vascular supply to the proximal pole of the scaphoid. MRI coupled with CT and X-ray are the methods of choice for diagnosis.
Preiser's disease is initially treated by immobilising the wrist with a cast. However, in most cases the avascular scaphoid will start to collapse leading to degeneration within the wrist joints. This often requires surgical intervention to prevent the progression of arthris. Two commonly performed procedures are: 1\. Proximal row carpectomy (PRC), which involves removing the first row of the carpal bones, i.e. the scaphoid, lunate and triquetrum. The wrist is immobilised in a cast for six weeks after the surgery and then physiotherapy is started. 2\. Scaphoid excision and 4-corner fusion, which is a procedure consisting of the removal of the scaphoid and fixation of the remaining wrist bones with a plate (called a "spider plate") or wires in order to provide stability. The plate usually is left inside the patient's wrist, while the wires (usually K-wires) have to be removed in a second surgery. This procedure of partial wrist fusion allows for limited wrist movement, whereas total wrist fusion immobilizes the wrist permanently. Following surgery it can take several months for affected patients to regain strength. Unfortunately both of these operations are salvage procedures and movements in the wrist will be significantly reduced.
## History[edit]
First described by Preiser in 1910 in 5 patients, all with previous history of wrist trauma, and scaphoid fractures in 3 of them.
## See also[edit]
* Four corner fusion
## References[edit]
* Karantanas A, Dailiana Z, Malizos K (2007). "The role of MR imaging in scaphoid disorders". Eur Radiol. 17 (11): 2860–71. doi:10.1007/s00330-007-0624-z. PMID 17351778.
* Preiser G (1910). "Eine typische posttraumatische und zur spontanfraktur führende ostitis des naviculare carpi". Fortschr Geb Roentgenstr. 15: 189–197.
* http://hand-clinic.com/pathologies.htm
* http://www.nwhealth.edu/conted/distlear/Avn/avnhand.html
* http://www.eorthopod.com/content/what-is-preisers-disease-and-what-causes-it
* https://web.archive.org/web/20100923192349/http://eorif.com/WristHand/Preisers.html
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Preiser disease | None | 2,104 | wikipedia | https://en.wikipedia.org/wiki/Preiser_disease | 2021-01-18T18:39:39 | {"icd-10": ["M87.0"], "wikidata": ["Q7239994"]} |
Cohen syndrome
Other namesPepper syndrome, Cervenka syndrome
This condition is inherited in an autosomal recessive manner.
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Management
* 4 Prevalence
* 5 Etymology
* 6 References
* 7 External links
## Genetics[edit]
This syndrome is believed to be a gene mutation in chromosome 8 at locus 8q22 gene COH1.[1] It has an autosomal recessive transmission with variable expression.[2] There is evidence that this syndrome has a different mutation in the same gene as Mirhosseini–Holmes–Walton syndrome.[3][4]
## Diagnosis[edit]
Cohen syndrome is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.[citation needed]
General appearance is obesity with thin/elongated arms and legs. Micrognathia, short philtrum and high vaulted palate are common. Variable intellectual disability with occasional seizure and deafness also is characteristic of Cohen syndrome.[citation needed]
## Management[edit]
Some of the symptoms of Cohen syndrome can be addressed through early intervention with medical specialists. Those who have this disease may benefit from early exposure to speech, physical, and occupational therapy to correct symptoms such as joint overflexibility, developmental delays, hypotonia, and motor clumsiness.[5] Diagnosis may potentially be delayed due to the lack of a definitive molecular test as well as the clinical variability of published case reports.[6]
Glasses are beneficial to those who have severe nearsightedness, whereas individuals with retinal degeneration need training for the visually impaired, which is usually more beneficial when this is addressed at a young age. Younger patients start out having unimpaired vision, but it starts to deteriorate at a young age and does so slowly.[7] If vision is able to improve with the use of glasses, they should be worn to help facilitate concept development. Retinal degeneration cannot be ameliorated with glasses.[8]
The type of therapy needed for each individual varies, as not every affected individual would benefit from speech, physical, and occupational therapies. The type of therapy for each person is highly individualized. Individuals who have Cohen syndrome may also benefit from psychosocial support.[9]
Many people who have Cohen syndrome also suffer from neutropenia which is a condition in which an individual has an abnormally low number of white blood cells called neutrophils. Having this condition may make these individuals susceptible to infections. Granulocyte-colony stimulating factor (G-CSF) is one possible treatment for neutropenia.[9]
Monitoring weight gain and growth is crucial, as well as annual ophthalmologic and hematologic evaluations and checkups.[5] While there are treatments available to people with Cohen syndrome, there are no known cures for the disease.[citation needed]
## Prevalence[edit]
Over the past several years, there have been approximately 50 new cases worldwide. There are population groups with this condition in Australia, New Zealand, the UK and the US. It still seems to go undiagnosed, leaving the number of known cases less than 500.[citation needed]
## Etymology[edit]
The syndrome is named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
## References[edit]
1. ^ Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE (June 2003). "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport". American Journal of Human Genetics. 72 (6): 1359–69. doi:10.1086/375454. PMC 1180298. PMID 12730828.
2. ^ Kivitie-Kallio S, Norio R (August 2001). "Cohen syndrome: essential features, natural history, and heterogeneity". American Journal of Medical Genetics. 102 (2): 125–35. doi:10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0. PMID 11477603.
3. ^ Norio R, Raitta C (October 1986). "Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?". American Journal of Medical Genetics. 25 (2): 397–8. doi:10.1002/ajmg.1320250227. PMID 3096139.
4. ^ Horn D, Krebsová A, Kunze J, Reis A (June 2000). "Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity". American Journal of Medical Genetics. 92 (4): 285–92. doi:10.1002/(sici)1096-8628(20000605)92:4<285::aid-ajmg13>3.0.co;2-d. PMID 10842298.
5. ^ a b "Cohen syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 2018-11-09.
6. ^ Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J (April 2003). "Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome". Journal of Medical Genetics. 40 (4): 233–41. doi:10.1136/jmg.40.4.233. PMC 1735413. PMID 12676892.
7. ^ Kivitie-Kallio S, Norio R (August 2001). "Cohen syndrome: essential features, natural history, and heterogeneity". American Journal of Medical Genetics. 102 (2): 125–35. doi:10.1002/1096-8628(20010801)102:2<125::aid-ajmg1439>3.0.co;2-0. PMID 11477603.
8. ^ "Cohen Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-11-09.
9. ^ a b Wang H, Falk MJ, Wensel C, Traboulsi E (1993). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Cohen Syndrome". University of Washington, Seattle. PMID 20301655. Retrieved 2018-11-10. Cite journal requires `|journal=` (help)
## External links[edit]
Classification
D
* OMIM: 216550
* MeSH: C536438
* DiseasesDB: 29622
* SNOMED CT: 56604005
External resources
* GeneReviews: Cohen Syndrome
* Orphanet: 193
* GeneReview/NIH/UW entry on Cohen syndrome
* v
* t
* e
Inherited disorders of trafficking / vesicular transport proteins
Vesicle formation
Lysosome/Melanosome:
* HPS1–HPS7
* Hermansky–Pudlak syndrome
* LYST
* Chédiak–Higashi syndrome
COPII:
* SEC23A
* Cranio-lenticulo-sutural dysplasia
* COG7
* CDOG IIE
APC:
* AP1S2
* X-linked intellectual disability
* AP3B1
* Hermansky–Pudlak syndrome 2
* AP4M1
* CPSQ3
Rab
* ARL6
* BBS3
* RAB27A
* Griscelli syndrome 2
* CHM
* Choroideremia
* MLPH
* Griscelli syndrome 3
Cytoskeleton
Myosin:
* MYO5A
* Griscelli syndrome 1
Microtubule:
* SPG4
* Hereditary spastic paraplegia 4
Kinesin:
* KIF5A
* Hereditary spastic paraplegia 10
Spectrin:
* SPTBN2
* Spinocerebellar ataxia 5
Vesicle fusion
Synaptic vesicle:
* SNAP29
* CEDNIK syndrome
* STX11
* Hemophagocytic lymphohistiocytosis 4
Caveolae:
* CAV1
* Congenital generalized lipodystrophy 3
* CAV3
* Limb-girdle muscular dystrophy 2B, Long QT syndrome 9
Vacuolar protein sorting:
* VPS33B
* ARC syndrome
* VPS13B
* Cohen syndrome
* DYSF
* Distal muscular dystrophy
See also vesicular transport proteins
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Cohen syndrome | c0265223 | 2,105 | wikipedia | https://en.wikipedia.org/wiki/Cohen_syndrome | 2021-01-18T19:05:30 | {"gard": ["6126"], "mesh": ["C536438"], "umls": ["C0265223"], "orphanet": ["193"], "wikidata": ["Q1107087"]} |
A number sign (#) is used with this entry because of evidence that Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is caused by hemizygous mutation in the FHL1 gene (300163) on chromosome Xq27. One such family has been reported.
Mutation in the FHL1 gene can cause several phenotypes with overlapping features; see particularly X-linked myopathy with postural muscle atrophy (XMPMA; 300696).
Clinical Features
Quadrelli et al. (2000) reported a family from Uruguay in which 6 males in 4 sibships in 3 generations, connected through females, had a syndrome of brachyturricephaly, 'pugilistic' facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three of the males were studied; 3 others had died from cardiac disease, consisting of ventricular hypertrophy. Muscle biopsy of the proband showed no abnormal findings. The mother of the propositus had milder signs of the syndrome, including an elongated face with prominent maxilla, everted lips, and a muffled voice. Her muscular development was prominent with little subcutaneous fat. The family was descended from European immigrants, probably Portuguese or Italian, who settled in Uruguay between 1850 and 1870.
Xue et al. (2016) provided follow-up of the family reported by Quadrelli et al. (2000). The proband graduated from college and was employed; his hypertrophic cardiomyopathy remained stable on a beta-blocker. One of the proband's affected uncles died at age 48 from heart failure.
Inheritance
The transmission pattern of FCMSU in the family reported by Quadrelli et al. (2000) was most consistent with X-linked recessive inheritance; however, some carrier females may have subtle manifestations.
Molecular Genetics
In 3 affected males and 2 obligate female carriers from the family with FCMSU originally reported by Quadrelli et al. (2000), Xue et al. (2016) identified a hemizygous or heterozygous splice site mutation in the FHL1 gene (300163.0018). The mutation, which was found by a combination of hemizygosity mapping and candidate gene exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient myoblasts showed skipping of exon 6, with the resulting primary structure of the protein identical to that of the FHL1C isoform. Western blot and immunohistochemical analysis of patient muscle showed almost complete absence of the FHL1A protein, and RT-PCR analysis showed a 4-fold increase in the expression of FHL1C. Xue et al. (2016) postulated that the imbalance of FHL1 isoforms contributed to the unique features in this family. There was some phenotypic similarity to XMPMA, but the authors considered these to be distinct disorders and delineated the differences.
INHERITANCE \- X-linked recessive HEAD & NECK Head \- Brachyturricephaly Face \- 'Pugilistic facies' \- Coarse facies \- Prominent supraorbital ridges \- Retrognathia Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Large eyebrows \- Synophrys \- Downslanting palpebral fissures Nose \- Broad nose \- Prominent nose Mouth \- Everted lower lip CARDIOVASCULAR Heart \- Cardiomyopathy \- Mitral regurgitation \- Ventricular hypertrophy SKELETAL Spine \- Scoliosis \- Kyphosis Pelvis \- Congenital hip dislocation Limbs \- Limited elbow movement Hands \- Broad hands \- Camptodactyly (2nd-5th) Feet \- Wide feet \- Progressive pes cavus \- Dislocation of toes \- Hallux valgus \- Camptodactyly SKIN, NAILS, & HAIR Nails \- Broad fingernails Hair \- Large eyebrows \- Synophrys MUSCLE, SOFT TISSUES \- Marked muscular hypertrophy NEUROLOGIC Central Nervous System \- Normal intelligence \- Difficulty walking VOICE \- Muffled voice LABORATORY ABNORMALITIES \- Elevated creatine kinase MISCELLANEOUS \- Onset in early childhood \- Female mutation carriers may have subtle manifestations \- Death in middle age due to cardiomyopathy may occur \- One family from Uruguay has been reported (last curated October 2017) MOLECULAR BASIS \- Caused by mutation in the four-and-a-half LIM domains 1 gene (FHL1, 300163.0018 ) ▲ Close
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME | c1846010 | 2,106 | omim | https://www.omim.org/entry/300280 | 2019-09-22T16:20:34 | {"mesh": ["C564544"], "omim": ["300280"], "synonyms": ["Alternative titles", "FCMS", "FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE"]} |
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | c4225424 | 2,107 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435930 | 2021-01-23T17:18:34 | {"omim": ["212550"], "icd-10": ["Q14.8"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-43 (MRT43) is caused by homozygous mutation in the KIAA1033 gene (WASHC4; 615748) on chromosome 12q23. One such family has been reported.
Clinical Features
Ropers et al. (2011) reported a large consanguineous Omani family in which 7 individuals had moderate to severe intellectual disability (IQ, 35-50). They had severe learning impairment, poor language skills, poor adaptive skills, and delayed fine motor development. They had short stature, but no other dysmorphic features. Brain MRI showed no significant abnormalities. One patient had signs of spasticity.
Inheritance
The transmission pattern in the family with MRT43 reported by Ropers et al. (2011) was consistent with autosomal recessive inheritance.
Mapping
By homozygosity mapping of a consanguineous Omani family with mental retardation, Ropers et al. (2011) identified a 12.5-Mb candidate region on chromosome 12q23-q24 (lod score of 3.5).
Molecular Genetics
In affected members of a family with MRT43, Ropers et al. (2011) identified a homozygous missense mutation in the KIAA1033 gene (P1019R; 615748.0001). In vitro functional expression studies and analysis of patient cells showed that the mutation destabilized the protein and interfered with the stability of the WASH (613632) complex. The findings implicated a role for abnormal actin dynamics and endosomal trafficking in this form of intellectual disability. The patients also carried a homozygous H362L variant in the LHX5 gene (605992), which was not thought to be pathogenic.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature NEUROLOGIC Central Nervous System \- Delayed development \- Mental retardation, moderate to severe (IQ 35-50) \- Poor language \- Poor adaptive skills \- Poor fine motor skills \- Spasticity (1 patient) MISCELLANEOUS \- One consanguineous family has been reported (last curated May 2014) MOLECULAR BASIS \- Caused by mutation in the KIAA1033 gene (KIAA1033, 615748.0001 ) ▲ Close
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 | c4014386 | 2,108 | omim | https://www.omim.org/entry/615817 | 2019-09-22T15:51:02 | {"doid": ["0060308"], "omim": ["615817"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
A number sign (#) is used with this entry because isolated sulfite oxidase deficiency (ISOD) is caused by homozygous or compound heterozygous mutation in the sulfite oxidase gene (SUOX; 606887) on chromosome 12q13.
Clinical Features
In an infant with fatal neurologic disease and ectopia lentis, Mudd et al. (1967) found increased sulfite in the urine with markedly decreased inorganic sulfate excretion. A deficiency in the activity of sulfite oxidase, an enzyme that normally catalyzes conversion of sulfite to sulfate, was postulated. Sibs of the infant had died, probably of the same disorder.
Van der Klei-van Moorsel et al. (1991) described a case of sulfite oxidase deficiency in which onset of symptoms occurred at 11 months of age. No ocular abnormalities were found.
A milder form of sulfite oxidase deficiency with a late onset was reported by Barbot et al. (1995) in a 7-year-old mentally retarded Portuguese girl whose parents were first cousins. The patient had an ataxic gait, generalized dystonia and choreoathetosis, and minimal development of language. This mild form cannot be distinguished from combined molybdenum cofactor deficiency on clinical grounds. The sulfite test may appear negative and sulfate excretion may be in the normal range (van der Klei-van Moorsel et al., 1991).
Garrett et al. (1998) described a 5-year-old girl born of first-cousin parents of Dutch descent. She exhibited developmental delay and hypotonia during the first 2 years of life with regression beginning at approximately 21 months of age. She had 2 healthy sibs. She had 2 seizures at approximately 5 months of age but none thereafter. At age 2 years, bilateral dislocation of the lenses was detected, and calcification of the basal ganglia and hypoplasia of the cerebellar vermis were documented on computed tomography and magnetic resonance imaging scans. Ataxia, dystonia, and choreoathetotic movements became progressively worse. She had mild eczema, fine hair, and delayed teething, but normal nails and joints. She had significant irritability and spasms needing sedation at night. At age 5 years, she had significant failure to thrive with feeding problems, aspiration, and generalized hypertonia. She was found to have a mutation resulting in an arg-to-gln substitution at amino acid 160 (606887.0001) of liver sulfite oxidase.
Touati et al. (2000) reported 2 unrelated patients with isolated sulfite oxidase deficiency, with a mild clinical course and late onset of symptoms. In 1 patient, the disease started at 15 months with an acute crisis of agitation, unexplained crying, and restlessness following otitis. In the other patient, the diagnosis was made at 10 months when the patient presented with slight motor delay and dislocation of lenses. In both patients, sulfite oxidase activity in fibroblasts was undetectable.
Inheritance
Sulfocysteinuria is an autosomal recessive disorder. Vianey-Liaud et al. (1988) reported an affected child of a consanguineous Algerian couple. The proband, a boy, died at 9 days of life. Two older sibs, a boy and a girl, had died in the first days of life, apparently of the same disorder.
Pathogenesis
Johnson and Rajagopalan (1976) showed that the defect in this disorder is indeed in sulfite oxidase and not in the specific molybdenum (Mo) cofactor required for activation of de-molybdo sulfite oxidase. (See 252150 for a disorder of the molybdenum cofactor.) Antibody specific for sulfite oxidase showed no crossreacting material.
Reviewing the nature of the ocular zonule, Streeten (1982) pointed out that the zonular fibers are composed of glycoprotein with a high concentration of cysteine, which undoubtedly explains their susceptibility to abnormal formation in diseases of sulfur metabolism.
Diagnosis
Wadman et al. (1983) called attention to a simple 'strip test' for sulfite in the urine and pointed to states giving false-positive or false-negative results.
Clinical Management
Shih et al. (1977) studied a 54-month-old boy with acute infantile hemiplegia and ectopia lentis. They observed a good biochemical response to a low sulfur amino acid diet. In the 2 patients reported by Touati et al. (2000), dietary therapy consisted of a diet low in protein from natural foods (daily methionine intake 130-150 mg) and a synthetic amino acid mixture (50 g per day) without cystine and methionine. A comparison of clinical and biochemical parameters was made between the period before treatment and after 2 years of treatment. Restriction in protein and sulfur amino acids brought about a dramatic decrease of urinary thiosulfate and S-sulfocysteine. It also brought about a generalized hypoaminoacidemia with a low plasma methionine and cystine in both patients. Furthermore, both patients grew normally with no signs of neurologic deterioration, and there was evidence of progress in psychomotor development.
Molecular Genetics
Kisker et al. (1997) characterized 4 missense mutations in the SUOX gene in cell lines from patients with isolated sulfite oxidase deficiency (606887.0001-606887.0004).
Seidahmed et al. (2005) reported a male infant with isolated sulfite oxidase deficiency from a consanguineous Arab family, in whom they identified homozygosity for a 1-bp deletion in the SUOX gene (606887.0005). Seidahmed et al. (2005) stated that this was the first mutation in the SUOX gene found in an Arab family.
Animal Model
Administration of tungsten to rats produces sulfite oxidase deficiency (Dulak et al., 1984).
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Ectopia lentis Teeth \- Delayed teething SKIN, NAILS, & HAIR Skin \- Mild eczema Hair \- Fine hair NEUROLOGIC Central Nervous System \- Infantile hemiplegia \- Hypotonia (in infancy) \- Hypertonia \- Generalized dystonia \- Choreoathetosis \- Seizures \- Ataxia \- Developmental delay Behavioral Psychiatric Manifestations \- Restlessness, agitation, crying under stress LABORATORY ABNORMALITIES \- Decreased sulfite oxidase activity in fibroblasts \- Increased urinary sulfite \- Decreased urinary sulfate MISCELLANEOUS \- Death in infancy MOLECULAR BASIS \- Caused by mutation in the sulfite oxidase gene (SUOX, 606887.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| SULFITE OXIDASE DEFICIENCY, ISOLATED | c2931746 | 2,109 | omim | https://www.omim.org/entry/272300 | 2019-09-22T16:21:58 | {"doid": ["0111270"], "mesh": ["C538141"], "omim": ["272300"], "orphanet": ["833", "99731"], "synonyms": ["Alternative titles", "SULFOCYSTEINURIA"], "genereviews": ["NBK453433"]} |
Main article: Apraxia
Ideational apraxia (IA) is a neurological disorder which explains the loss of ability to conceptualize, plan, and execute the complex sequences of motor actions involved in the use of tools or otherwise interacting with objects in everyday life.[1] Ideational apraxia is a condition in which an individual is unable to plan movements related to interaction with objects, because they have lost the perception of the object's purpose.[2] Characteristics of this disorder include a disturbance in the concept of the sequential organization of voluntary actions. The patient appears to have lost the knowledge or thought of what an object represents. This disorder was first seen 100 years ago by Doctor Arnold Pick, who described a patient who appeared to have lost their ability to use objects.[3] The patient would make errors such as combing their hair with the wrong side of the comb or placing a pistol in his mouth.[3] From that point on, several other researchers and doctors have stumbled upon this unique disorder. IA has been described under several names such as, agnosia of utilization, conceptual apraxia or loss of knowledge about the use of tools, or Semantic amnesia of tool usage.[4] The term apraxia was first created by Steinthal in 1871 and was then applied by Gogol, Kusmaul, Star, and Pick to patients who failed to pantomime the use of tools.[3] It was not until the 1900s, when Liepmann refined the definition, that it specifically described disorders that involved motor planning, rather than disturbances in the patient’s visual perception, language, or symbolism.[4][5]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Error classes
* 5 Therapy
* 6 References
## Signs and symptoms[edit]
Liepmann was the first to actually conduct tests on these patients in his laboratory. These tests are known as multiple-object tasks or MOT.[5] Each task requires the patient to use more than one object; the researcher describes a task to the patient and asks them to execute that task as described. Liepmann gave the patients all the necessary articles, such as a candle and a matchbox, which were placed before the patient. He then observed the patients to see how they interacted with each object.[5] In the case of the matchbox, one patient brought the whole box up next to the wick, instead of just one match. Another opened the box and withdrew a match, then brought it to the wick unlighted. Still another patient struck the candle against the striking surface on the matchbox. Thus Liepmann was able to witness the discontinuity of the patients' actions with respect to everyday objects and to categorize the errors that the patients made, namely: mislocation of actions, object misuse, omissions, perplexity, and sequence errors.[6]
Even though afflicted persons are unable to correctly perform simple tasks using multiple items as provided, they are able to accurately identify the objects involved in simple tasks. For example, they are able to match a given sequence of photographs with the correct label, such as: the process of making coffee, buttering bread, or preparing tea. These patients are also able to successfully identify objects when a researcher verbally describes the function of the tool. Another test involves matching the appropriate object with its function. Finally, the fact that patients can identify the actions of a given tool from a sequence of photographs, shows that they completely understand object usage.[7]
The deficit is therefore not that patients lack the knowledge of how to use an object; they fully understand the function of each tool. Rather, the problem lies in that, when they attempt to interact with the tools (in a multiple-object task) in order to execute those functions, that execution is flawed.[6]
## Cause[edit]
The cause of IA is still somewhat of a mystery to most researchers because there is no localized focal point in the brain that shows where this deficit will occur. Since 1905 Liepmann proposed a hypothesis of an action processing system that is found in the left hemisphere of the brain, which is dedicated to skilled, motor planning that guides the movement of the body. Yet, he still was never able to produce two patients with the same brain damage that showed ideational apraxia. The major ideas of where IA is found are in the left posterior temporal-parietal junction. Possibly damage to the lateral sulcus also known as Sylvian fissure may contribute to an individual’s deterioration of object recognition. Another possible area of damage leading to IA is the submarginal gyrus, which is located in the parietal lobe of the brain.[8] Overall, IA is an autonomous syndrome, linked to damage in the left hemisphere involving semantic memory disorders rather than a defect in motor control.[9]
Several severe injuries or diseases can cause IA in a wide range of patients. Alzheimer's patients are the largest cohort groups that express IA.[10] Other groups that are often seen with this dysfunction are stroke victims, traumatic brain injuries, and dementia. The damage is almost always found in the dominant hemisphere (i.e. usually the left hemisphere) of the patient.[citation needed]
## Pathophysiology[edit]
Ideational apraxia is characterized by the mechanism that the patient loses the “idea” of how they should interact with an object. Norman and Shallice came up with the dual-systems theory of the control of routine and willed behavior. According to this theory one system –contention scheduling is responsible for the control of routine action, while – supervisory attention is able to bias this system when willed control over the behavior is required.[6]
Contention scheduling is a complicated set of processes that involve action schemas.[6] These action schemas are what are used in the sequence of actions involved in making a cup of tea and situation specific factors such as whether a glass of lemonade is too bitter. Even simple tasks need the monitoring of goals: e.g., has sugar been added to a cup of coffee.
But as we learn new activities we are also learning new schemas. We all know how to open a jar of jelly or how to light a match. Schemas are needed in everyday life because they give purpose and goal to our behaviors. In each schema there are subgoals or components that make up the schema.[6] An example would be the schema of lighting a match. There are three subgoals found in this schema: holding the match, holding the matchbox, and holding a lit match. More subgoals could be applied but those are the most obvious when the overall goal wanted is to light a match. That is why schemas form a hierarchy, with the more complicated and complex action sequences corresponding to high level schemas and low level schemas correlating with simple single object tasks.[6]
As said earlier from Norman and Shallice the other component used in voluntary action is supervisory attention. Schemas cause the activation of behaviors; the greater the excitation of the activity the more easily it is to achieve the subgoals and complete the schema. Either top-down fashion activates schemas, where intentions are governed by some type of cognitive system, or by bottom-up fashion where features or an object in the environment trigger a schema to begin. The bottom-up feature is what is seen in ideational apraxia because an object appears to capture the attention of the patient.[6] However, the schema that corresponds to the object cannot be fulfilled. For some reason there is a disconnect in the brain that does not allow the individual to produce the sequence of actions that they know should be happening with the object that is in their visual pathway. It is this area that is still an area of ambiguity to physicians and researchers alike. They are not sure where in the brain the action schema pathway is severed.[6]
## Diagnosis[edit]
Ideational apraxia is difficult to diagnose. This is because the majority of patients who have this disorder also have some other type of dysfunction such as agnosia or aphasia. The tests used to make an IA diagnosis can range from easy single-object tasks to complex multiple-object tasks.[11] When being tested, a patient may be asked to view twenty objects. They then have to demonstrate the use of each single object following three different ways of presenting the stimuli. The patient must then perform a complex test in which the examiner describes a task such as making coffee and the patient must show the sequential steps to make a cup of coffee. The patients are then scored on how many errors are seen by the examiner. The errors of the patients in performing the MOT were scored according to a set of criteria partly derived from De Renzi and Lucchelli.[7]
### Error classes[edit]
Two classes of errors are used to develop a diagnosis:
Class I: Sequence errors
* Action addition (AA) is a meaningful action step that is not necessary for accomplishing the goal of the MOT action (e.g., removing the filter of the orange squeezer in order to pour the liquid);
* Action anticipation (A) is an anticipation of an action that would normally be performed later in the action sequence (e.g., blowing the match out before using it);
* Step omission (SO) is an omission of a step of the multiple-actions sequence (e.g., inserting the filter in the coffee machine without pouring some water);
* Perseveration (P) is a repetition of an action step previously performed in the action sequence.
Class II: Conceptual errors
* Misuse (Mis) errors, which can be differentiated into two subtypes:
1. (Mis1) involves a well-performed action that is appropriate to an object different from the object target (e.g., hammering with a saw);
2. (Mis2) involves an action that is appropriate at a superordinate level to the object at hand but is inappropriately specified at the subordinate level (e.g., cutting an orange with a knife as if it were butter).
* Mislocation (Misl) errors, which can be differentiated into two subtypes:
1. (Misl1) is an action that is appropriate to the object in hand but is performed in completely the wrong place (e.g., pouring some liquid from the bottle onto the table rather than into the glass);
2. (Misl2) involves the correct general selection of the target object on which to operate with the source object or instrument in hand but with the exact location of the action being wrong (e.g., striking the match inside the matchbox).
* Tool omission (TO) is an omission in using an obligatory tool where the hand is used instead (e.g., opening a bottle without using a bottle opener);
* Pantomiming (Pant) is when the patient "pantomime shows" how the object should be used instead of using it;
* Perplexity (Perpl) is a delay or hesitation in starting an action or subcomponents of an action;
* Toying(T) consists of brief but repeated touching of an object or objects on the table.[7]
As the examiner observes the patient for each task they mark off which errors were committed. From this criteria the examiner will be able to focus on severity of the dysfunction. It is important to express that the motor movement is not lost in patients with IA. Yet, at first glance their movements may appear to be awkward because they are unable to plan a sequence of movements with the given object.[7]
## Therapy[edit]
This section may be confusing or unclear to readers. Please help us clarify the section. There might be a discussion about this on the talk page. (January 2016) (Learn how and when to remove this template message)
Since the underlying cause of the disorder is damage to the brain, at present ideational apraxia is not reversible. However, Occupational or Physical Therapy may be able to slow the progression and help patients regain some functional control, with the treatment approach being the same as that of ideomotor apraxia.[12] Some recovery may occur in younger patients after stroke, because brain plasticity may allow the functions of these damaged regions to be remapped. As patients develop new behaviors to cope with their apraxia, their brain's functioning neurons may take on some of the functions of the dead or damaged regions.[10]
In the context of dementia, apraxia is a major cause of morbidity, and progresses with the underlying disease sometimes to the extent that patients may be unable to feed themselves or use simple utensils. Patients often become highly dependent or require nursing home placement because of their inability to properly use objects.
Brain imaging techniques such as fMRI, EEG, and PET scans may help in understanding the neuroanatomical and computational basis of ideational apraxia. Understanding these mechanisms is likely to be crucial in developing new modes of therapy to help patients cope with their disorder.
## References[edit]
1. ^ Binkofski F, Fink G (2005). "Apraxias". Nervenarzt. 76 (4): 493–509. doi:10.1007/s00115-005-1908-7. PMID 15806418.
2. ^ Buxbaum LJ, Schwartz MF, Montgomery MW (1998). "Ideational apraxia and naturalistic action". Cognitive Neuropsychology. 15 (6–8): 617–43. doi:10.1080/026432998381032. PMID 22448839.
3. ^ a b c Fukutake T. (2003). "Apraxia of tool use: An autopsy case of biparietal infarction". European Neurology. 49 (1): 45–52. doi:10.1159/000067027. PMID 12464718.
4. ^ a b Zadikoff C, Lang AE (2005). "Apraxia in movement disorders". Brain. 128 (Pt 7): 1480–97. doi:10.1093/brain/awh560. PMID 15930045.
5. ^ a b c Hanna-Pladdy B, Rothi LJ (2001). "Ideational apraxia: Confusion that began with Liepmann". Neuropsychological Rehabilitation. 11 (5): 539–47. doi:10.1080/09602010143000022.
6. ^ a b c d e f g h Cooper RP (2007). "Tool use and related errors in ideational apraxia: The quantitative simulation of patient error profiles" (PDF). Cortex. 43 (3): 319–37. doi:10.1016/S0010-9452(08)70458-1. PMID 17533756.
7. ^ a b c d Rumiati RI, Zanini S, Vorano L, Shallice T (2001). "A form of ideational apraxia as a selective deficit of contention scheduling". Cognitive Neuropsychology. 18 (7): 617–42. doi:10.1080/02643290126375. PMID 20945230.
8. ^ Platz T. (2005). "Apraxia — neuroscience and clinical aspects. A research synthesis". Nervenarzt. 76 (10): 1209–+. doi:10.1007/s00115-005-1936-3. PMID 15937712.
9. ^ Ebisch SJ, Babiloni C, Del Gratta C, Ferretti A, Perrucci MG, et al. (2007). "Human neural systems for conceptual knowledge of proper object use: A functional magnetic resonance imaging study". Cerebral Cortex. 17 (11): 2744–51. doi:10.1093/cercor/bhm001. PMID 17283202.
10. ^ a b Chainay H, Louarn C, Humphreys GW (2006). "Ideational action impairments in Alzheimer's disease". Brain and Cognition. 62 (3): 198–205. doi:10.1016/j.bandc.2006.05.002. PMID 16777309.
11. ^ Motomura N, Yamadori A (1994). "A Case of Ideational Apraxia with Impairment of Object Use and Preservation of Object Pantomime". Cortex. 30 (1): 167–70. doi:10.1016/s0010-9452(13)80332-2. PMID 8004986.
12. ^ Unsworth, C.A. (2007). Cognitive and Perceptual Dysfunction. In S. B. O’Sullivan, & T. J. Schmitz (Eds.), Physical Rehabilitation (5th Ed.) (p.1182). Philadelphia: F.A. Davis Company.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Ideational apraxia | c0234526 | 2,110 | wikipedia | https://en.wikipedia.org/wiki/Ideational_apraxia | 2021-01-18T18:39:01 | {"mesh": ["D001072"], "umls": ["C0234526"], "wikidata": ["Q5988100"]} |
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
## Epidemiology
To date, about 30 cases with syndrome of maternal origin have been reported.
## Clinical description
The syndrome of maternal origin manifests in early childhood by developmental delay particularly in language, hypotonia, seizures often resistant, behavioral problems sometimes falling within the autism spectrum disorders (ASDs), and subtle or no dysmorphic features (macrocephaly, down-slanting palpebral fissures, epicanthal folds, expressionless face, clinodactyly, syndactyly) and short stature. A late-onset Lennox-Gastaut syndrome has been described. Cardiac defects have occasionally been reported. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioral disorders).
## Etiology
The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region (PWACR), of which deletions lead to Prader-Willi and Angelman syndromes (see these terms). The chromosome 15q proximal region is unstable and rich in low-copy repeat (LCR) sequences that are often substrates of clinically relevant rearrangements with various parent-of-origin effects, including duplications that occur preferentially on the maternal chromosome. The causative genes are imprinted and expressed from the maternal allele. Only two maternally expressed genes, UBE3A and ATP10C, are located in the imprinted domain. Interstitial duplications are of an almost uniform 4 Mb size, sharing the same breakpoints with deletions, and about 2/3 of them appear to arise from an interchromosomal event, the remaining being intrachromosomal. Interstitial triplications have rarely been reported. Interstitial duplications occur usually de novo and are much less frequent than inverted duplications leading to the inv dup(15) syndrome (see this term).
## Diagnostic methods
Diagnosis should be suspected in any child with early hypotonia, minor dysmorphic features, developmental delay/intellectual disability, ASD and seizures. Diagnosis is confirmed by standard cytogenetics (G-R-banding, able to identify most but not all duplications) and interphase fluorescence in situ hybridization (FISH) using probes from both proximal chromosome 15 and the PWACR, which shows the dup15q11-q13 encompassing the PWACR. Molecular studies (microsatellite analysis on parental DNA and methylation-specific PCR on proband DNA) are needed to detect the parent-of-origin. Comparative genomic hybridization microarray (aCGH) is a powerful method to detect the duplication extent.
## Differential diagnosis
Differential diagnosis includes the other causes of developmental delay, ASD, and epilepsy. Severe early hypotonia may lead to genetic evaluation for PWS, showing the dup15q11-q13. Genetic testing rules out other disorders with a similar clinical picture and associated with supernumerary marker chromosome (SMC) derived from 15, such as inv dup(15) or, more rarely, double SMC resulting in partial hexasomy of the maternally inherited PWACR.
## Antenatal diagnosis
Prenatal diagnosis is possible. Cells, obtained by choriocentesis or amniocentesis, can be analyzed by a combination of cytogenetic (G-R-banding, FISH), and molecular (methylation analysis) methods.
## Genetic counseling
Genetic counseling should be cautious as the dup15q11-q13 syndrome is usually sporadic and rarely familial.
## Management and treatment
The multidisciplinary management includes a comprehensive neurological and developmental evaluation. A video-EEG study is recommended to characterize the seizures and to determine the first choice pharmacotherapy. Regular follow-up is essential, as the seizures may be hard to control. Developmental evaluations allow planning early physical, occupational and speech interventions. Cardiac ultrasound should be performed in all carriers to exclude a cardiac defect.
## Prognosis
Survival is not significantly reduced.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| 15q11q13 microduplication syndrome | c2675336 | 2,111 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238446 | 2021-01-23T19:10:22 | {"mesh": ["C557830"], "omim": ["608636"], "umls": ["C2675336"], "icd-10": ["Q92.3"], "synonyms": ["15q11q13 duplication syndrome", "Dup(15)(q11q13)", "Trisomy 15q11q13"]} |
A rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.
## Epidemiology
This isolated anomaly has been described in around 20 individuals.
## Genetic counseling
Transmission may be autosomal recessive or dominant with variable penetrance.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Isolated anterior cervical hypertrichosis | c1838123 | 2,112 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3387 | 2021-01-23T18:35:05 | {"gard": ["8438"], "mesh": ["C538390"], "omim": ["600457"], "umls": ["C1838123"], "icd-10": ["L68.2"], "synonyms": ["Hairy throat syndrome", "Tsukahara-Kajii syndrome"]} |
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.
Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet.
Babies born to mothers who have PKU and uncontrolled phenylalanine levels (women who no longer follow a low-phenylalanine diet) have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU and uncontrolled phenylalanine levels also have an increased risk of pregnancy loss.
## Frequency
The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.
## Causes
Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively. As a result, this amino acid can build up to toxic levels in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage.
Classic PKU, the most severe form of the disorder, occurs when phenylalanine hydroxylase activity is severely reduced or absent. People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious health problems. Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition, such as variant PKU or non-PKU hyperphenylalaninemia.
Changes in other genes may influence the severity of PKU, but little is known about these additional genetic factors.
### Learn more about the gene associated with Phenylketonuria
* PAH
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Phenylketonuria | c0751434 | 2,113 | medlineplus | https://medlineplus.gov/genetics/condition/phenylketonuria/ | 2021-01-27T08:25:28 | {"gard": ["7383"], "mesh": ["D010661"], "omim": ["261600"], "synonyms": []} |
Sexual maturation disorder
SpecialtyPsychiatry, Psychology
Sexual orientation
Sexual orientations
* Asexual
* Bisexual
* Heterosexual
* Homosexual
Non-binary categories
* Androphilia and gynephilia
* Bi-curious
* Gray asexuality
* Non-heterosexual
* Pansexuality
* Queer
Research
* Biological
* Birth order
* Epigenetic
* Neuroscientific
* Prenatal hormones
* Demographics
* Environment
* Human female sexuality
* Human male sexuality
* Kinsey scale
* Klein Grid
* Queer studies
* Sexology
* Timeline of sexual orientation and medicine
Non-human animals
* Animal sexual behaviour
* Non-reproductive sexual behavior in animals
* Homosexual behavior in animals (list)
Related topics
* Romantic orientation
* Category
* v
* t
* e
Sexual maturation disorder is a disorder of anxiety or depression related to an uncertainty about one's gender identity or sexual orientation. The World Health Organization (WHO) lists sexual maturation disorder in the ICD-10, under "Psychological and behavioural disorders associated with sexual development and orientation".[1] In the ICD-10 it is explicitly stated that sexual orientation, by itself, is not a disorder and is not classified under this heading.[1] Sexual maturation disorder, along with ego-dystonic sexual orientation and sexual relationship disorder, was introduced to the ICD in 1990, replacing the ICD-9 diagnosis of homosexuality.[2] The diagnosis is not included in the ICD-11.[3][4]
## See also[edit]
* Homosexuality and psychology
* Questioning (sexuality and gender)
## References[edit]
1. ^ a b F66.0
2. ^ Drescher, Jack (4 August 2015). "Queer diagnoses revisited: The past and future of homosexuality and gender diagnoses in DSM and ICD". International Review of Psychiatry. 27 (5): 386–395. doi:10.3109/09540261.2015.1053847.
3. ^ Reed, Geoffrey M.; Drescher, Jack; Krueger, Richard B.; Atalla, Elham; Cochran, Susan D.; First, Michael B.; Cohen-Kettenis, Peggy T.; Arango-de Montis, Iván; Parish, Sharon J.; Cottler, Sara; Briken, Peer; Saxena, Shekhar (October 2016). "Disorders related to sexuality and gender identity in the ICD-11: revising the ICD-10 classification based on current scientific evidence, best clinical practices, and human rights considerations". World Psychiatry. 15 (3): 205–221. doi:10.1002/wps.20354. PMC 5032510.
4. ^ Cochran, Susan D; Drescher, Jack; Kismödi, Eszter; Giami, Alain; García-Moreno, Claudia; Atalla, Elham; Marais, Adele; Vieira, Elisabeth Meloni; Reed, Geoffrey M (1 September 2014). "Proposed declassification of disease categories related to sexual orientation in the (ICD-11)". Bulletin of the World Health Organization. 92 (9): 672–679. doi:10.2471/BLT.14.135541. PMC 4208576.
## External links[edit]
Classification
D
* ICD-10: F66.0
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
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Orgasm
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Schizophrenia, schizotypal and delusional
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* Delusional disorder
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schizophrenia-like
* Brief reactive psychosis
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Other
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Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Sexual maturation disorder | c0349290 | 2,114 | wikipedia | https://en.wikipedia.org/wiki/Sexual_maturation_disorder | 2021-01-18T18:58:55 | {"umls": ["C0349290"], "icd-10": ["F66.0"], "wikidata": ["Q3540872"]} |
This article is about the nail disease. For the genus of plants, see Paronychia (plant).
Not to be confused with Whitlow.
Paronychia
Other namesInfection – skin around the nail[1]
SpecialtyDermatology, emergency medicine
TypesAcute and chronic
Paronychia is an inflammation of the skin around the nail, which can occur suddenly, when it is usually due to the bacteria Staph. aureus, or gradually when it is commonly caused by Candida albicans.[2][3][4] The term is from Greek: παρωνυχία from para, "around", onyx, "nail" and the abstract noun suffix -ia.[5][6]
The index and middle fingers are most commonly affected and usually present with redness, swelling and pain. Pus or discharge may be present.[2]
Risk factors include repeatedly washing hands and trauma to the cuticle such as may occur from repeated nail biting.[2]
Treatment ranges from antibiotics and anti-fungals, and if pus is present, the consideration of incision and drainage.[2]
Paronychia is commonly misapplied as a synonym for herpetic whitlow or felon.[2]
## Contents
* 1 Definition and etymology
* 2 Signs and symptoms
* 3 Causes
* 4 Diagnosis
* 4.1 Types
* 4.1.1 Acute
* 4.1.2 Chronic
* 5 Differential
* 6 Treatment
* 6.1 Antibiotics
* 7 Epidemiology
* 8 References
* 9 External links
## Definition and etymology[edit]
Paronychia is an inflammation of the skin around the nail, which can occur suddenly (acute), when it is usually due to the bacteria Staph. aureus, or gradually (chronic) when it is commonly caused by Candida albicans.[2]
The term is from Greek: παρωνυχία from para, "around", onyx, "nail" and the abstract noun suffix -ia.[7][8]
## Signs and symptoms[edit]
The index and middle fingers are most commonly affected and may present with redness, swelling and pain. Pus or discharge may be present.[2]
* An infection of the cuticle secondary to a splinter
* Left and right ring fingers of the same individual. The distal phalanx of the finger on the right exhibits swelling due to acute paronychia
* Chronic paronychia
## Causes[edit]
Acute paronychia is usually caused by bacteria. Paronychia is often treated with antibiotics, either topical or oral or both. Chronic paronychia is most often caused by a yeast infection of the soft tissues around the nail but can also be traced to a bacterial infection. If the infection is continuous, the cause is often fungal and needs antifungal cream or paint to be treated.[9]
Risk factors include repeatedly washing hands and trauma to the cuticle such as may occur from repeated nail biting.[2] In the context of bartending, it is known as bar rot.[10]
Prosector's paronychia is a primary inoculation of tuberculosis of the skin and nails, named after its association with prosectors, who prepare specimens for dissection. Paronychia around the entire nail is sometimes referred to as runaround paronychia.[citation needed]
Painful paronychia in association with a scaly, erythematous, keratotic rash (papules and plaques) of the ears, nose, fingers, and toes may be indicative of acrokeratosis paraneoplastica, which is associated with squamous cell carcinoma of the larynx.[11]
Paronychia can occur with diabetes, drug-induced immunosuppression,[12] or systemic diseases such as pemphigus.[13]
## Diagnosis[edit]
### Types[edit]
Paronychia may be divided as occurring suddenly, acute, or gradually, chronic.[14]
#### Acute[edit]
Acute paronychia is an infection of the folds of tissue surrounding the nail of a finger or, less commonly, a toe, lasting less than six weeks.[4] The infection generally starts in the paronychium at the side of the nail, with local redness, swelling, and pain.[15]:660 Acute paronychia is usually caused by direct or indirect trauma to the cuticle or nail fold, and may be from relatively minor events, such as dishwashing, an injury from a splinter or thorn, nail biting, biting or picking at a hangnail, finger sucking, an ingrown nail, or manicure procedures.[16]:339
#### Chronic[edit]
Chronic Paronychia is an infection of the folds of tissue surrounding the nail of a finger or, less commonly, a toe, lasting more than six weeks.[4] It is a nail disease prevalent in individuals whose hands or feet are subject to moist local environments, and is often due to contact dermatitis.[15]:660 In chronic paronychia, the cuticle separates from the nail plate, leaving the region between the proximal nail fold and the nail plate vulnerable to infection.[17]:343 It can be the result of dish washing, finger sucking, aggressively trimming the cuticles, or frequent contact with chemicals (mild alkalis, acids, etc.).
Alternatively, paronychia may be divided as follows:[15]
* Candidal paronychia is an inflammation of the nail fold produced by Candida albicans.[14]:310
* Pyogenic paronychia is an inflammation of the folds of skin surrounding the nail caused by bacteria.[14]:254 Generally acute paronychia is a pyogenic paronychia as it is usually caused by a bacterial infection.[4]
## Differential[edit]
Differential diagnosis of paronychia include:
* Cellulitis – Cellulitis is a superficial infection and will present as erythema and swelling to the affected portion of the body with no area of fluctuance. Treatment is with oral antibiotics.[18]
* Whitlow or felon – a subcutaneous infection of the digital pulp space. The area becomes warm, red, tense, and very painful due to the confinement of the infection, creating pressure in the individual compartments created by the septa of the finger pad. These require excision and drainage, usually with a longitudinal incision and blunt dissection to ensure adequate drainage.[2][18]
* Herpetic whitlow – This is a viral infection of the distal finger caused by HSV. Patients usually develop a burning, pruritic sensation before the infection erupts. A physical exam will show vesicles, vesicopustules, along with pain and erythema. It is important to not confuse this with a felon or a paronychia as incision and drainage of herpetic whitlow could result in a secondary bacterial infection and failure to heal.[18]
* Onychomycosis – This is a fungal infection of the nail that causes whitish-yellowish discoloration. Sometimes difficult to treat and requires oral antibiotics instead of topical.[18]
* Nail psoriasis – psoriasis can affect the fingernails and toenails. It may cause thickening of the nails with areas of pitting, ridges, irregular contour, and even raising of the nail from the nail bed.[18]
* Squamous cell carcinoma – Squamous cell carcinoma is mainly cancer of the skin but can also affect the nail bed. It is a rare malignant subungual tumor subject to misdiagnosis as chronic paronychia.[18]
## Treatment[edit]
When no pus is present, warm soaks for acute paronychia are reasonable, even though there is a lack of evidence to support its use.[19]
Chronic paronychia is treated by avoiding whatever is causing it, a topical antifungal, and a topical steroid. In those who do not improve following these measures, oral antifungals and steroids may be used or the nail fold may be removed surgically.[20]
### Antibiotics[edit]
There is no strong evidence recommending topical vs. oral antibiotics, and this may be physician-dependent based on experience. Antibiotic used should have staph aureus coverage. Topical antibiotics used may be a triple antibiotic ointment, bacitracin, or mupirocin. In patients failing topical treatment or more severe cases, oral antibiotics are an option; dicloxacillin (250mg four times a day) or cephalexin (500mg three to four times a day). Indications for antibiotics with anaerobic coverage include patients where there is a concern for oral inoculation; this would require the addition of clindamycin or amoxicillin-clavulanate.[18] Antibiotics such as clindamycin or cephalexin are also often used, the first being more effective in areas where MRSA is common.[19] If there are signs of an abscess (the presence of pus) drainage is recommended.[19]
## Epidemiology[edit]
Paronychia is more common in women than in men, with a female-to-male ratio of three to one. Usually, they affect manual labor workers or patients in occupations that require them to have their hands or feet submerged in water for prolonged periods (e.g., dishwashers). Middle-aged females are at the highest risk of infection.[18]
## References[edit]
1. ^ "Paronychia: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 26 April 2019.
2. ^ a b c d e f g h i James G. Marks; Jeffrey J. Miller (2013). "21. Nail disorders". Lookingbill and Marks' Principles of Dermatology E-Book (Fifth ed.). Elsevier Saunders. p. 256. ISBN 978-1-4557-2875-6.
3. ^ Rigopoulos D, Larios G, Gregoriou S, Alevizos A (February 2008). "Acute and chronic paronychia". Am Fam Physician. 77 (3): 339–46. PMID 18297959.
4. ^ a b c d Rockwell PG (March 2001). "Acute and chronic paronychia". Am Fam Physician. 63 (6): 1113–6. PMID 11277548.
5. ^ Harper, Douglas. "paronychia". Online Etymology Dictionary.
6. ^ παρωνυχία, παρά, ὄνυξ. Liddell, Henry George; Scott, Robert; A Greek–English Lexicon at the Perseus Project.
7. ^ Harper, Douglas. "paronychia". Online Etymology Dictionary.
8. ^ παρωνυχία, παρά, ὄνυξ. Liddell, Henry George; Scott, Robert; A Greek–English Lexicon at the Perseus Project.
9. ^ "Doctor's advice Q: Whitlow (paronychia)". bbc.co.uk. Retrieved 2008-05-10.
10. ^ "Bar Rot". The Truth About Bartending. January 27, 2012. Archived from the original on 2013-03-22.
11. ^ Karen Allen, MD (2005-08-17). "eMedicine – Acrokeratosis Neoplastica". Medscape.
12. ^ Paronychia~clinical at eMedicine
13. ^ Serratos BD, Rashid RM (200). "Nail disease in pemphigus vulgaris". Dermatol. Online J. 15 (7): 2. PMID 19903430.
14. ^ a b c James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
15. ^ a b c Freedberg, Irwin M., ed. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill Publishing Company. ISBN 978-0071380768.
16. ^ Rigopoulos, Dimitris; Larios, George; Gregoriou, Stamatis; Alevizos, Alevizos (2008). "Acute and Chronic Paronychia" (PDF). American Family Physician. 77 (3): 339–346. PMID 18297959. Retrieved January 7, 2013.
17. ^ Rigopoulos, Dimitris; Larios, George; Gregoriou, Stamatis; Alevizos, Alevizos (2008). "Acute and Chronic Paronychia" (PDF). American Family Physician. 77 (3): 339–346. PMID 18297959. Retrieved January 8, 2013.
18. ^ a b c d e f g h Dulski, Anne; Edwards, Christopher W (2020). "Paronychia". Statpearls. PMID 31335027. Text was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.
19. ^ a b c Ritting, AW; O'Malley, MP; Rodner, CM (May 2012). "Acute paronychia". The Journal of Hand Surgery. 37 (5): 1068–70, quiz page 1070. doi:10.1016/j.jhsa.2011.11.021. PMID 22305431.
20. ^ Rigopoulos, Dimitris; Larios, George; Gregoriou, Stamatis; Alevizos, Alevizos (1 February 2008). "Acute and Chronic Paronychia". American Family Physician. 77 (3): 339–346. ISSN 0002-838X.
## External links[edit]
Wikimedia Commons has media related to Paronychia (disease).
Classification
D
* ICD-10: L03.0
* ICD-9-CM: 681.02, 681.11
* MeSH: D010304
* DiseasesDB: 9663
External resources
* MedlinePlus: 001444
* eMedicine: derm/798
* "Paronychia Nail Infection". Dermatologic Disease Database. American Osteopathic College of Dermatology. Archived from the original on 2013-03-30. Retrieved 2006-07-12.
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
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Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
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* Pityriasis rubra pilaris
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* Ichthyosis
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* Lichen planus
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Pustular
* Acne vulgaris
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* Folliculitis
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Hypopigmented
* Tinea versicolor
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* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
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Without
epidermal
involvement
Red
Blanchable
Erythema
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* Cellulitis
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Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
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* Ab igne)
Nonblanchable
Purpura
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* Disseminated intravascular coagulation
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Indurated
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Miscellaneous
disorders
Ulcers
*
Hair
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Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
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* v
* t
* e
Bacterial skin disease
Gram +ve
Firmicutes
* Staphylococcus
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Actinobacteria
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* Lichen scrofulosorum
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* Tuberculosis cutis orificialis
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* Tuberculous gumma
* Tuberculoid leprosy
* Cutaneous actinomycosis
* Nocardiosis
* Cutaneous diphtheria infection
* Arcanobacterium haemolyticum infection
* Group JK corynebacterium sepsis
Gram -ve
Proteobacteria
* α: Endemic typhus
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* North Asian tick typhus
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* Rickettsia aeschlimannii infection
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* Rocky Mountain spotted fever
* Human granulocytotropic anaplasmosis
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* Flea-borne spotted fever
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* Verruga peruana
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* Brucellosis
* Cat-scratch disease
* Oroya fever
* Ehrlichiosis ewingii infection
* β: Gonococcemia/Gonorrhea/Primary gonococcal dermatitis
* Melioidosis
* Cutaneous Pasteurella hemolytica infection
* Meningococcemia
* Glanders
* Chromobacteriosis infection
* γ: Pasteurellosis
* Tularemia
* Vibrio vulnificus
* Rhinoscleroma
* Haemophilus influenzae cellulitis
* Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome
* Q fever
* Salmonellosis
* Shigellosis
* Plague
* Granuloma inguinale
* Chancroid
* Aeromonas infection
* ε: Helicobacter cellulitis
Other
* Syphilid
* Syphilis
* Chancre
* Yaws
* Pinta
* Bejel
* Chlamydia infection
* Leptospirosis
* Rat-bite fever
* Lyme disease
* Lymphogranuloma venereum
Unspecified
pathogen
* Abscess
* Periapical abscess
* Boil/furuncle
* Hospital furunculosis
* Carbuncle
* Cellulitis
* Paronychia / Pyogenic paronychia
* Perianal cellulitis
* Acute lymphadenitis
* Pilonidal cyst
* Pyoderma
* Folliculitis
* Superficial pustular folliculitis
* Sycosis vulgaris
* Pimple
* Ecthyma
* Pitted keratolysis
* Trichomycosis axillaris
* Necrotizing fascitis
* Gangrene
* Chronic undermining burrowing ulcers
* Fournier gangrene
* Elephantiasis nostras
* Blistering distal dactylitis
* Botryomycosis
* Malakoplakia
* Gram-negative folliculitis
* Gram-negative toe web infection
* Pyomyositis
* Blastomycosis-like pyoderma
* Bullous impetigo
* Chronic lymphangitis
* Recurrent toxin-mediated perineal erythema
* Tick-borne lymphadenopathy
* Tropical ulcer
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Paronychia | c0030578 | 2,115 | wikipedia | https://en.wikipedia.org/wiki/Paronychia | 2021-01-18T19:09:05 | {"mesh": ["D010304"], "umls": ["C0030578"], "icd-9": ["681.02", "681.11"], "wikidata": ["Q3896379"]} |
A post-viral cough is a lingering cough that follows a viral respiratory tract infection, such as a common cold or flu and lasting up to eight weeks. Post-viral cough is a clinically recognized condition represented within the European medical literature.[1][2][3] Patients usually experience repeated episodes of post-viral cough. The heightened sensitivity in the respiratory tract is demonstrated by inhalation cough challenge.[4]
## Contents
* 1 Cause
* 2 Treatment
* 3 See also
* 4 References
## Cause[edit]
One possible cause for post-viral cough is that the receptors that are responsible for stimulating the cough during the respiratory tract infection are up-regulated by respiratory tract infection and continue to stimulate even after the virus has disappeared.[4]
## Treatment[edit]
Post-viral cough can be resistant to treatment. Post-viral cough usually goes away on its own; however, cough suppressants containing codeine may be prescribed. A study has claimed theobromine is more effective.[5]
## See also[edit]
* Asthma
* Bronchiolitis
* Cough medicine
* Globus pharyngis
## References[edit]
1. ^ Kastelik JA, Aziz I, Ojoo JC, Thompson RH, Redington AE, Morice AH (February 2005). "Investigation and management of chronic cough using a probability-based algorithm". Eur. Respir. J. 25 (2): 235–43. doi:10.1183/09031936.05.00140803. PMID 15684286.
2. ^ Chung KF, Lalloo UG (October 1996). "Diagnosis and management of chronic persistent dry cough". Postgrad Med J. 72 (852): 594–8. doi:10.1136/pgmj.72.852.594. PMC 2398587. PMID 8977940.
3. ^ Holmes PW, Barter CE, Pierce RJ (September 1992). "Chronic persistent cough: use of ipratropium bromide in undiagnosed cases following upper respiratory tract infection". Respir Med. 86 (5): 425–9. doi:10.1016/S0954-6111(06)80010-7. PMID 1462022.
4. ^ a b International Society for the Study of Cough
5. ^ Usmani, Omar S.; Belvisi, Maria G.; Patel, Hema J.; Crispino, Natascia; Birrell Mark A.; Korbonits, Márta; Korbonits, Dezső; Barnes, Peter J. (November 17, 2004). "Theobromine inhibits sensory nerve activation and cough". FASEB Journal. 19 (2): 231–3. doi:10.1096/fj.04-1990fje. PMID 15548587. Retrieved 2008-07-04. "The present study demonstrates that theobromine, a methylxanthine derivative present in cocoa, effectively inhibits citric acid-induced cough in guinea-pigs in vivo. Furthermore, in a randomized, double-blind, placebo controlled study in man, theobromine suppresses capsaicin-induced cough with no adverse effects. We also demonstrate that theobromine directly inhibits capsaicin-induced sensory nerve depolarization of guinea-pig and human vagus nerve suggestive of an inhibitory effect on afferent nerve activation."
This medical symptom article is a stub. You can help Wikipedia by expanding it.
* v
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* e
*[v]: View this template
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*[e]: Edit this template
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Post-viral cough | c2919453 | 2,116 | wikipedia | https://en.wikipedia.org/wiki/Post-viral_cough | 2021-01-18T18:31:54 | {"umls": ["C2919453"], "wikidata": ["Q1748564"]} |
A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Laryngeal neuroendocrine tumor | None | 2,117 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100083 | 2021-01-23T18:19:48 | {} |
This article may be confusing or unclear to readers. Please help us clarify the article. There might be a discussion about this on the talk page. (April 2018) (Learn how and when to remove this template message)
See also: Bimalleolar fracture
Trimalleolar fracture
X-ray of trimalleolar fracture repair before and after ORIF surgery
SpecialtyOrthopedics
A trimalleolar fracture is a fracture of the ankle that involves the lateral malleolus, the medial malleolus, and the distal posterior aspect of the tibia, which can be termed the posterior malleolus. The trauma is sometimes accompanied by ligament damage and dislocation.[1]
The three aforementioned parts of bone articulate with the talus bone of the foot. Strictly speaking, there are only two malleoli (medial and lateral), but the term trimalleolar is used nevertheless and as such is a misnomer.
## Contents
* 1 Treatment
* 2 References
* 3 Further reading
* 4 External links
## Treatment[edit]
X-ray of trimalleolar fracture repair with plate and nails
Surgical repair using open reduction and internal fixation is generally required, and because there is no lateral restraint of the foot, the ankle cannot bear any weight while the bone knits. This typically takes six weeks in an otherwise healthy person, but can take as much as twelve weeks. Non-surgical treatment may sometimes be considered in cases where the patient has significant health problems or where the risk of surgery may be too great.[1]
## References[edit]
1. ^ a b Orthopaedic Trauma Association (September 2007). "Ankle Fractures". AAOS.
## Further reading[edit]
* Weber, Martin (2004). "Trimalleolar Fractures with Impaction of the Posteromedial Tibial Plafond: Implications for Talar Stability". Foot & Ankle International. 25 (10): 716–27. doi:10.1177/107110070402501005. PMID 15566703.
* Weber, Martin; Ganz, Reinhold (2003). "Malunion following Trimalleolar Fracture with Posterolateral Subluxation of the Talus — Reconstruction Including the Posterior Malleolus". Foot & Ankle International. 24 (4): 338–44. doi:10.1177/107110070302400406. PMID 12735377.
* Bucholz, R. W.; Henry, S; Henley, M. B. (1994). "Fixation with bioabsorbable screws for the treatment of fractures of the ankle". The Journal of Bone and Joint Surgery. 76 (3): 319–24. doi:10.2106/00004623-199403000-00001. PMID 8126036.
* Haraguchi, Naoki; Haruyama, H; Toga, H; Kato, F (2006). "Pathoanatomy of Posterior Malleolar Fractures of the Ankle". The Journal of Bone and Joint Surgery. 88 (5): 1085–92. doi:10.2106/JBJS.E.00856. PMID 16651584.
* Langenhuijsen, Johan F.; Heetveld, Martin J.; Ultee, Jan M.; Steller, E. Philip; Butzelaar, Rudi M. J. M. (2002). "Results of Ankle Fractures with Involvement of the Posterior Tibial Margin". The Journal of Trauma: Injury, Infection, and Critical Care. 53 (1): 55–60. doi:10.1097/00005373-200207000-00012. PMID 12131390.
* Van Den Bekerom, Michel P. J.; Haverkamp, Daniel; Kloen, Peter (2009). "Biomechanical and Clinical Evaluation of Posterior Malleolar Fractures. A Systematic Review of the Literature". The Journal of Trauma: Injury, Infection, and Critical Care. 66 (1): 279–84. doi:10.1097/TA.0b013e318187eb16. PMID 19131839.
* Helmy, Naeder; Meyer, Dominik C.; Vienne, Patrick; Espinosa, Norman (2012). "The Posterolateral Approach for the Treatment of Trimalleolar Fractures". Techniques in Foot & Ankle Surgery. 11 (4): 189–93. doi:10.1097/BTF.0b013e3182743f11.
* Forberger, Jens; Sabandal, Philipp V.; Dietrich, Michael; Gralla, Jan; Lattmann, Thomas; Platz, Andreas (2009). "Posterolateral Approach to the Displaced Posterior Malleolus: Functional Outcome and Local Morbidity". Foot & Ankle International. 30 (4): 309–14. doi:10.3113/FAI.2009.0309. PMID 19356354.
## External links[edit]
Classification
D
* ICD-10: S82.8
* MeSH: 68013978
External resources
* AO Foundation: 44-B3
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Trimalleolar fracture | c0435907 | 2,118 | wikipedia | https://en.wikipedia.org/wiki/Trimalleolar_fracture | 2021-01-18T19:07:19 | {"mesh": ["D064386"], "icd-9": ["824.7", "824.6"], "icd-10": ["S82.8"], "wikidata": ["Q7842131"]} |
Syringocystadenoma papilliferum
Other namesSyringadenoma papilliferum
SpecialtyDermatology
Syringocystadenoma papilliferum is a benign apocrine tumor.[1]
It can arise with nevus sebaceus.[2]
## Contents
* 1 Additional images
* 2 See also
* 3 References
* 4 External links
## Additional images[edit]
An example of a syringocystadenoma papilliferum
## See also[edit]
* List of cutaneous conditions
* Hidradenoma papilliferum
* Papillary eccrine adenoma
* List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Monticciolo NL, Schmidt JD, Morgan MB (2002). "Verrucous carcinoma arising within syringocystadenoma papilliferum". Ann. Clin. Lab. Sci. 32 (4): 434–7. PMID 12458900.
## External links[edit]
Classification
D
* ICD-O: 8406/0
* DiseasesDB: 32126
* v
* t
* e
Cancers of skin and associated structures
Glands
Sweat gland
Eccrine
* Papillary eccrine adenoma
* Eccrine carcinoma
* Eccrine nevus
* Syringofibroadenoma
* Spiradenoma
Apocrine
* Cylindroma
* Dermal cylindroma
* Syringocystadenoma papilliferum
* Papillary hidradenoma
* Hidrocystoma
* Apocrine gland carcinoma
* Apocrine nevus
Eccrine/apocrine
* Syringoma
* Hidradenoma or Acrospiroma/Hidradenocarcinoma
* Ceruminous adenoma
Sebaceous gland
* Nevus sebaceous
* Muir–Torre syndrome
* Sebaceous carcinoma
* Sebaceous adenoma
* Sebaceoma
* Sebaceous nevus syndrome
* Sebaceous hyperplasia
* Mantleoma
Hair
* Pilomatricoma/Malignant pilomatricoma
* Trichoepithelioma
* Multiple familial trichoepithelioma
* Solitary trichoepithelioma
* Desmoplastic trichoepithelioma
* Generalized trichoepithelioma
* Trichodiscoma
* Trichoblastoma
* Fibrofolliculoma
* Trichilemmoma
* Trichilemmal carcinoma
* Proliferating trichilemmal cyst
* Giant solitary trichoepithelioma
* Trichoadenoma
* Trichofolliculoma
* Dilated pore
* Isthmicoma
* Fibrofolliculoma
* Perifollicular fibroma
* Birt–Hogg–Dubé syndrome
Hamartoma
* Basaloid follicular hamartoma
* Folliculosebaceous cystic hamartoma
* Folliculosebaceous-apocrine hamartoma
Nails
* Neoplasms of the nailbed
* v
* t
* e
Glandular and epithelial cancer
Epithelium
Papilloma/carcinoma
* Small-cell carcinoma
* Combined small-cell carcinoma
* Verrucous carcinoma
* Squamous cell carcinoma
* Basal-cell carcinoma
* Transitional cell carcinoma
* Inverted papilloma
Complex epithelial
* Warthin's tumor
* Thymoma
* Bartholin gland carcinoma
Glands
Adenomas/
adenocarcinomas
Gastrointestinal
* tract: Linitis plastica
* Familial adenomatous polyposis
* pancreas
* Insulinoma
* Glucagonoma
* Gastrinoma
* VIPoma
* Somatostatinoma
* Cholangiocarcinoma
* Klatskin tumor
* Hepatocellular adenoma/Hepatocellular carcinoma
Urogenital
* Renal cell carcinoma
* Endometrioid tumor
* Renal oncocytoma
Endocrine
* Prolactinoma
* Multiple endocrine neoplasia
* Adrenocortical adenoma/Adrenocortical carcinoma
* Hürthle cell
Other/multiple
* Neuroendocrine tumor
* Carcinoid
* Adenoid cystic carcinoma
* Oncocytoma
* Clear-cell adenocarcinoma
* Apudoma
* Cylindroma
* Papillary hidradenoma
Adnexal and
skin appendage
* sweat gland
* Hidrocystoma
* Syringoma
* Syringocystadenoma papilliferum
Cystic, mucinous,
and serous
Cystic general
* Cystadenoma/Cystadenocarcinoma
Mucinous
* Signet ring cell carcinoma
* Krukenberg tumor
* Mucinous cystadenoma / Mucinous cystadenocarcinoma
* Pseudomyxoma peritonei
* Mucoepidermoid carcinoma
Serous
* Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma
Ductal, lobular,
and medullary
Ductal carcinoma
* Mammary ductal carcinoma
* Pancreatic ductal carcinoma
* Comedocarcinoma
* Paget's disease of the breast / Extramammary Paget's disease
Lobular carcinoma
* Lobular carcinoma in situ
* Invasive lobular carcinoma
Medullary carcinoma
* Medullary carcinoma of the breast
* Medullary thyroid cancer
Acinar cell
* Acinic cell carcinoma
This Epidermal nevi, neoplasms, cysts article is a stub. You can help Wikipedia by expanding it.
* v
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* e
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Syringocystadenoma papilliferum | c0406803 | 2,119 | wikipedia | https://en.wikipedia.org/wiki/Syringocystadenoma_papilliferum | 2021-01-18T18:57:33 | {"gard": ["5100"], "mesh": ["D000074009"], "umls": ["C0406803"], "orphanet": ["840"], "wikidata": ["Q7663355"]} |
Apparent leukonychia
SpecialtyDermatology
Apparent leukonychia is a cutaneous condition characterized by white discoloration of the nail that fades with pressure.[1]
## See also[edit]
* Nail anatomy
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Apparent leukonychia | None | 2,120 | wikipedia | https://en.wikipedia.org/wiki/Apparent_leukonychia | 2021-01-18T18:51:28 | {"wikidata": ["Q16829716"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (July 2014)
Fetal aortic stenosis
SpecialtyNeonatology
Fetal aortic stenosis is a disorder that occurs when the fetus’ aortic valve does not fully open during development.[1] The aortic valve is a one way valve that is located between the left ventricle and the aorta, keeping blood from leaking back into the ventricle.[1] It has three leaflets that separate when the ventricle contracts to allow blood to move from the ventricle to the aorta.[1] These leaflets come together when the ventricle relaxes.
## Contents
* 1 Mechanism
* 2 Diagnosis
* 3 Treatment
* 4 References
## Mechanism[edit]
Since the valve does not open properly in aortic stenosis, there is a decrease in the forward movement of blood into the aorta. Fetal aortic stenosis impairs left ventricular development, which can lead to hypoplastic left heart syndrome.[2] If untreated, HLHS is lethal,[3] as a result of the inability of the left heart to pump enough blood to sustain normal organ function.[4] In fetal life, this is condition is manageable because the ductus arteriosus acts as a bypass, and supports the delivery of oxygenated blood to the systemic circulation.[4] However, the ductus arteriosus closes during the first few days of life, resulting in systemic circulation failure in babies born with aortic valve stenosis.[2]
## Diagnosis[edit]
Fetal aortic valve stenosis can be diagnosed by echocardiography before birth.[5] The diagnostic features include a poorly contracting left ventricle, aortic valve thickening/restriction, a varying degree of left ventricular hypertrophy and abnormal Doppler flow characteristics in the left heart.[5] There may be little or no detectable flow into or out of the left side of the heart.[5]
There are two screening periods, one during the first trimester and the other during the second trimester. Fetal aortic stenosis is typically detected between 18 and 24 weeks gestation.[2] This early detection is important because it allows for parents to be counseled in a timely and rational manner, allowing for discussion of prognosis and possible outcomes.[2] Another reason for this crucial early detection is because it allows for postnatal management planning.[citation needed]
## Treatment[edit]
Intervention inutero may need to be done if there is concern that the aortic stenosis is severe enough to lead to the development of hypoplastic left heart syndrome. Management before birth is done by a fetal aortic valvuloplasty. In this procedure, fetal positioning is crucial. It is important that the left chest is located anteriorly, and that there are no limbs between the uterine wall and the apex of the left ventricle.[4] The LV apex needs to be within 9 cm of the abdominal wall and the left ventricle outflow track has to be parallel to the intended cannula course in order for the wire to be blindly directed at the aortic valve. An 11.5 cm long, 19-gauge cannula and stylet needle passes through the mother's abdomen, uterine wall, and fetal chest wall into the left ventricle of the fetus.[4] Then a 0.014 inch guide wire is passed across the stenosis aortic valve, where a balloon is inflated to stretch the aortic annulus.[4]
Once born, critical or severe aortic stenosis is often treated through a less invasive catherization procedure knows as aortic valvuloplasty. Other options for newborns involve open heart surgery. Potential open heart surgeries may include aortic valve repair or the Ross procedure.[citation needed]
If the fetal aortic stenosis is critical it may lead to hypoplastic left heart syndrome. Hypoplastic Left Heart Syndrome (HLHS) it is treated with the Norwood procedure. This typically consists of three surgeries creating and removing shunts. The atrial septum is removed, the aortic arch is reconstructed to remove any hypoplasia, and then the main pulmonary artery is connected into this reconstructed arch, resulting in the right ventricle ejecting directly into systemic circulation.[2] the end result is the right ventricle pumping blood to both the body and to the lungs. [2]
An alternative to the Norwood procedure is known as the hybrid procedure, was developed in 2008. In the hybrid procedure, bilateral pulmonary artery bands are positioned to limit pulmonary flow while, at the same time, placing a stent in the ductus arteriosus to hold it open.[2] This maintains the connection between the aorta and the systemic circulation. A balloon atrial septostomy is also done. This ensures that there is enough of a connection between the two atria of the heart to provide open blood flow and mixing of oxygen rich and poor blood[6] This procedure spares the baby from undergoing open heart surgery until they are older. They typically come back at 4–6 months of age when they are stronger for the open heart surgery.[6]
## References[edit]
1. ^ a b c Marshall, A. (2010). Aortic Valve Stenosis. Retrieved from: http://www.childrenshospital.org/health-topics/conditions/aortic-valve-stenosis
2. ^ a b c d e f g Barron, David J; Kilby, Mark D; Davies, Ben; Wright, John GC; Jones, Timothy J; Brawn, William J (2009). "Hypoplastic left heart syndrome". The Lancet. 374 (9689): 551–64. doi:10.1016/S0140-6736(09)60563-8. PMID 19683641. S2CID 3285769.
3. ^ Tworetzky, W; Wilkins-Haug, L; Jennings, R. W; Van Der Velde, M. E; Marshall, A. C; Marx, G. R; Colan, S. D; Benson, C. B; Lock, J. E; Perry, S. B (2004). "Balloon Dilation of Severe Aortic Stenosis in the Fetus: Potential for Prevention of Hypoplastic Left Heart Syndrome: Candidate Selection, Technique, and Results of Successful Intervention". Circulation. 110 (15): 2125–31. doi:10.1161/01.cir.0000144357.29279.54. PMID 15466631.
4. ^ a b c d e Levine, Jami C; Tworetzky, Wayne (2006). "Intervention for severe aortic stenosis in the fetus: Altering the progression of left sided heart disease". Progress in Pediatric Cardiology. 22: 71–8. doi:10.1016/j.ppedcard.2006.01.007.
5. ^ a b c Maxwell, D; Allan, L; Tynan, M J (1991). "Balloon dilatation of the aortic valve in the fetus: A report of two cases". Heart. 65 (5): 256–8. doi:10.1136/hrt.65.5.256. PMC 1024626. PMID 2039669.
6. ^ a b Nationwide Children’s Hospital (2014). Hypoplastic Left Heart Syndrome. Retrieved from: http://www.nationwidechildrens.org/hypoplastic-left-heart-syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Fetal aortic stenosis | c0152417 | 2,121 | wikipedia | https://en.wikipedia.org/wiki/Fetal_aortic_stenosis | 2021-01-18T18:55:26 | {"gard": ["744"], "umls": ["C0152417"], "icd-9": ["746.3"], "icd-10": ["Q23.0"], "orphanet": ["3093"], "wikidata": ["Q3501498"]} |
Rickettsia aeschlimannii
Scientific classification
Domain: Bacteria
Phylum: Proteobacteria
Class: Alphaproteobacteria
Order: Rickettsiales
Family: Rickettsiaceae
Genus: Rickettsia
Species group: Spotted fever group
Species:
R. aeschlimannii
Binomial name
Rickettsia aeschlimannii
Beati et al., 1997
Rickettsia aeschlimannii infection
SpecialtyInfectious disease
Rickettsia aeschlimannii infection is a condition characterized by a rash of maculopapules.[1]
## See also[edit]
* Tick-borne lymphadenopathy
* American tick bite fever
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1130. ISBN 978-1-4160-2999-1.
* "Rickettsia aeschlimannii". NCBI Taxonomy Browser. 45262.
Classification
D
* ICD-10: A77.8
* v
* t
* e
Proteobacteria-associated Gram-negative bacterial infections
α
Rickettsiales
Rickettsiaceae/
(Rickettsioses)
Typhus
* Rickettsia typhi
* Murine typhus
* Rickettsia prowazekii
* Epidemic typhus, Brill–Zinsser disease, Flying squirrel typhus
Spotted
fever
Tick-borne
* Rickettsia rickettsii
* Rocky Mountain spotted fever
* Rickettsia conorii
* Boutonneuse fever
* Rickettsia japonica
* Japanese spotted fever
* Rickettsia sibirica
* North Asian tick typhus
* Rickettsia australis
* Queensland tick typhus
* Rickettsia honei
* Flinders Island spotted fever
* Rickettsia africae
* African tick bite fever
* Rickettsia parkeri
* American tick bite fever
* Rickettsia aeschlimannii
* Rickettsia aeschlimannii infection
Mite-borne
* Rickettsia akari
* Rickettsialpox
* Orientia tsutsugamushi
* Scrub typhus
Flea-borne
* Rickettsia felis
* Flea-borne spotted fever
Anaplasmataceae
* Ehrlichiosis: Anaplasma phagocytophilum
* Human granulocytic anaplasmosis, Anaplasmosis
* Ehrlichia chaffeensis
* Human monocytotropic ehrlichiosis
* Ehrlichia ewingii
* Ehrlichiosis ewingii infection
Rhizobiales
Brucellaceae
* Brucella abortus
* Brucellosis
Bartonellaceae
* Bartonellosis: Bartonella henselae
* Cat-scratch disease
* Bartonella quintana
* Trench fever
* Either B. henselae or B. quintana
* Bacillary angiomatosis
* Bartonella bacilliformis
* Carrion's disease, Verruga peruana
β
Neisseriales
M+
* Neisseria meningitidis/meningococcus
* Meningococcal disease, Waterhouse–Friderichsen syndrome, Meningococcal septicaemia
M−
* Neisseria gonorrhoeae/gonococcus
* Gonorrhea
ungrouped:
* Eikenella corrodens/Kingella kingae
* HACEK
* Chromobacterium violaceum
* Chromobacteriosis infection
Burkholderiales
* Burkholderia pseudomallei
* Melioidosis
* Burkholderia mallei
* Glanders
* Burkholderia cepacia complex
* Bordetella pertussis/Bordetella parapertussis
* Pertussis
γ
Enterobacteriales
(OX−)
Lac+
* Klebsiella pneumoniae
* Rhinoscleroma, Pneumonia
* Klebsiella granulomatis
* Granuloma inguinale
* Klebsiella oxytoca
* Escherichia coli: Enterotoxigenic
* Enteroinvasive
* Enterohemorrhagic
* O157:H7
* O104:H4
* Hemolytic-uremic syndrome
* Enterobacter aerogenes/Enterobacter cloacae
Slow/weak
* Serratia marcescens
* Serratia infection
* Citrobacter koseri/Citrobacter freundii
Lac−
H2S+
* Salmonella enterica
* Typhoid fever, Paratyphoid fever, Salmonellosis
H2S−
* Shigella dysenteriae/sonnei/flexneri/boydii
* Shigellosis, Bacillary dysentery
* Proteus mirabilis/Proteus vulgaris
* Yersinia pestis
* Plague/Bubonic plague
* Yersinia enterocolitica
* Yersiniosis
* Yersinia pseudotuberculosis
* Far East scarlet-like fever
Pasteurellales
Haemophilus:
* H. influenzae
* Haemophilus meningitis
* Brazilian purpuric fever
* H. ducreyi
* Chancroid
* H. parainfluenzae
* HACEK
Pasteurella multocida
* Pasteurellosis
* Actinobacillus
* Actinobacillosis
Aggregatibacter actinomycetemcomitans
* HACEK
Legionellales
* Legionella pneumophila/Legionella longbeachae
* Legionnaires' disease
* Coxiella burnetii
* Q fever
Thiotrichales
* Francisella tularensis
* Tularemia
Vibrionaceae
* Vibrio cholerae
* Cholera
* Vibrio vulnificus
* Vibrio parahaemolyticus
* Vibrio alginolyticus
* Plesiomonas shigelloides
Pseudomonadales
* Pseudomonas aeruginosa
* Pseudomonas infection
* Moraxella catarrhalis
* Acinetobacter baumannii
Xanthomonadaceae
* Stenotrophomonas maltophilia
Cardiobacteriaceae
* Cardiobacterium hominis
* HACEK
Aeromonadales
* Aeromonas hydrophila/Aeromonas veronii
* Aeromonas infection
ε
Campylobacterales
* Campylobacter jejuni
* Campylobacteriosis, Guillain–Barré syndrome
* Helicobacter pylori
* Peptic ulcer, MALT lymphoma, Gastric cancer
* Helicobacter cinaedi
* Helicobacter cellulitis
This dermatology article is a stub. You can help Wikipedia by expanding it.
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* e
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
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| Rickettsia aeschlimannii infection | c4505103 | 2,122 | wikipedia | https://en.wikipedia.org/wiki/Rickettsia_aeschlimannii_infection | 2021-01-18T19:06:49 | {"mesh": ["D000073605"], "icd-10": ["A77.8"], "wikidata": ["Q7331926"]} |
Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34.
Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. Most affected men have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Other affected males have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected men with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death. Most women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy.
Affected individuals can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). People with Danon disease are often affected by a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern.
Skeletal myopathy occurs in most men with Danon disease and about half of affected women. The weakness typically occurs in the muscles of the upper arms, shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease.
Most men with Danon disease, but only a small percentage of affected women, have intellectual disability. If present, the disability is usually mild.
There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.
## Frequency
Danon disease is a rare condition, but the exact prevalence is unknown.
## Causes
Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 protein may help transport cellular materials or digestive enzymes into the lysosome. The transport of cellular materials into lysosomes requires the formation of cellular structures called autophagic vacuoles (or autophagosomes), which then attach (fuse) to lysosomes. The LAMP-2 protein may be involved in the fusion between autophagic vacuoles and lysosomes.
Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.
### Learn more about the gene associated with Danon disease
* LAMP2
## Inheritance Pattern
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Danon disease | c0878677 | 2,123 | medlineplus | https://medlineplus.gov/genetics/condition/danon-disease/ | 2021-01-27T08:25:39 | {"gard": ["9730"], "mesh": ["D052120"], "omim": ["300257"], "synonyms": []} |
Radiculopathy
C5-C6, followed by C6-C7, is the most common location for radiculopathy in the neck.
SpecialtyNeurosurgery
Radiculopathy, also commonly referred to as pinched nerve, refers to a set of conditions in which one or more nerves are affected and do not work properly (a neuropathy). Radiculopathy can result in pain (radicular pain), weakness, numbness, or difficulty controlling specific muscles.[1] Pinched nerves arise when surrounding bone or tissue, such as cartilage, muscles or tendons, put pressure on the nerve and disrupt its function.[2]
In a radiculopathy, the problem occurs at or near the root of the nerve, shortly after its exit from the spinal cord. However, the pain or other symptoms often radiate to the part of the body served by that nerve. For example, a nerve root impingement in the neck can produce pain and weakness in the forearm. Likewise, an impingement in the lower back or lumbar-sacral spine can be manifested with symptoms in the foot.
The radicular pain that results from a radiculopathy should not be confused with referred pain, which is different both in mechanism and clinical features. Polyradiculopathy refers to the condition where more than one spinal nerve root is affected.
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 3.1 Rehabilitation
* 3.2 Surgery
* 4 Epidemiology
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Causes[edit]
Brachial plexus. C6 and C7 nerves affected most frequently.
Radiculopathy most often is caused by mechanical compression of a nerve root usually at the exit foramen or lateral recess. It may be secondary to intervertebral disk herniation (most commonly at C7 and then the C6 level), degenerative disc disease, osteoarthritis, facet joint degeneration/hypertrophy, ligamentous hypertrophy, spondylolisthesis, or a combination of these factors.[3][4] Other possible causes of radiculopathy include neoplastic disease, infections such as shingles, HIV, or Lyme disease, spinal epidural abscess, spinal epidural hematoma, proximal diabetic neuropathy, Tarlov cysts, or, more rarely, sarcoidosis, arachnoiditis, tethered spinal cord syndrome, or transverse myelitis.[3][verification needed]
Repeated, longer term exposure (5 years or more) to certain work-related activities may put people at risk of developing lumbosacral radiculopathy.[5] These behaviours may include physically demanding work, bending over or twisting at the trunk, lifting and carrying, or a combination of these activities.[5]
Less common causes of radiculopathy include injury caused by tumor (which can compress nerve roots locally) and diabetes (which can effectively cause ischemia or lack of blood flow to nerves).[medical citation needed]
## Diagnosis[edit]
Projectional radiograph of a man presenting with pain by the nape and left shoulder, showing a stenosis of the left intervertebral foramen of cervical spinal nerve 4, corresponding with the affected dermatome.
CT scan of a man presenting with radiculopathy of the left cervical spinal nerve 7, corresponding to spondylosis with osteophytes between the vertebral bodies C6 and C7 on the left side, causing foraminal stenosis at this level (lower arrow, showing axial plane). There is also spondylosis of the facet joint between C2 and C3, with some foraminal stenosis at this level (upper arrow), which appears to be asymptomatic.
Signs and Symptoms
Radiculopathy is a diagnosis commonly made by physicians in primary care specialities, orthopedics, physiatry, and neurology. The diagnosis may be suggested by symptoms of pain, numbness, paresthesia, and weakness in a pattern consistent with the distribution of a particular nerve root, such as sciatica.[6][7] Neck pain or back pain may also be present.[medical citation needed] Physical examination may reveal motor and sensory deficits in the distribution of a nerve root. In the case of cervical radiculopathy, Spurling's test may elicit or reproduce symptoms radiating down the arm. Similarly, in the case of lumbosacral radiculopathy, a straight leg raise maneuver or a femoral nerve stretch test may demonstrate radiculopathic symptoms down the leg.[3] Deep tendon reflexes (also known as a Stretch reflex) may be diminished or absent in areas innervated by a particular nerve root.[citation needed]
Diagnosis typically involves electromyography and lumbar puncture.[3] Shingles is more common among the elderly and immunocompromised; usually (but not always) pain is followed by appearance of a rash with small blisters along a single dermatome.[3] It can be confirmed by quick laboratory tests.[8] Acute Lyme radiculopathy follows a history of outdoor activities during warmer months in likely tick habitats in the previous 1–12 weeks.[9] In the U.S., Lyme is most common in New England and Mid-Atlantic states and parts of Wisconsin and Minnesota, but it is expanding to other areas.[10][11] The first manifestation is usually an expanding rash possibly accompanied by flu-like symptoms. Lyme radiculopathy is usually worse at night and accompanied by extreme sleep disturbance, lymphocytic meningitis with variable headache and no fever, and sometimes by facial palsy or Lyme carditis.[12] Lyme can also cause a milder, chronic radiculopathy an average of 8 months after the acute illness.[3] Lyme can be confirmed by blood antibody tests and possibly lumbar puncture.[9][3] If present, the above conditions should be treated immediately.[3]
Although most cases of radiculopathy are compressive and resolve with conservative treatment within 4–6 weeks, guidelines for managing radiculopathy recommend first excluding possible causes that, although rare, require immediate attention, among them the following. Cauda equina syndrome should be investigated in case of saddle anesthesia, loss of bladder or bowel control, or leg weakness.[3] Cancer should be suspected if there is previous history of cancer, unexplained weight loss, or low-back pain that does not decrease by lying down or is unremitting.[3] Spinal epidural abscess is more common among those with diabetes mellitus or immunocompromised, who use intravenous drugs, or had spinal surgery, injection or catheter; it typically causes fever, leukocytosis and increased erythrocyte sedimentation rate.[3] If any of the previous is suspected, urgent magnetic resonance imaging is recommended for confirmation.[3] Proximal diabetic neuropathy typically affects middle aged and older people with well-controlled type-2 diabetes mellitus; onset is sudden causing pain usually in multiple dermatomes quickly followed by weakness.[citation needed]
Investigations
If symptoms do not improve after 4–6 weeks of conservative treatment, or the person is more than 50 years old, further tests are recommended.[3] The American College of Radiology recommends that projectional radiography is the most appropriate initial study in all patients with chronic neck pain.[13] Two additional diagnostic tests that may be of use are magnetic resonance imaging and electrodiagnostic testing. Magnetic resonance imaging (MRI) of the portion of the spine where radiculopathy is suspected may reveal evidence of degenerative change, arthritic disease, or another explanatory lesion responsible for the patient's symptoms. Electrodiagnostic testing, consisting of NCS (nerve conduction study) and EMG (electromyography), is also a powerful diagnostic tool that may show nerve root injury in suspected areas. On nerve conduction studies, the pattern of diminished Compound muscle action potential and normal sensory nerve action potential may be seen given that the lesion is proximal to the posterior root ganglion. Needle EMG is the more sensitive portion of the test, and may reveal active denervation in the distribution of the involved nerve root, and neurogenic-appearing voluntary motor units in more chronic radiculopathies. Given the key role of electrodiagnostic testing in the diagnosis of acute and chronic radiculopathies, the American Association of Neuromuscular & Electrodiagnostic Medicine has issued evidence-based practice guidelines, for the diagnosis of both cervical and lumbosacral radiculopathies.[14][15] The American Association of Neuromuscular & Electrodiagnostic Medicine has also participated in the Choosing Wisely Campaign and several of their recommendations relate to what tests are unnecessary for neck and back pain.[16]
## Treatment[edit]
Ideally, effective treatment aims to resolve the underlying cause and restores the nerve root to normal function. Conservative treatment may include bed rest, physical therapy, or simply continuing to do usual activities; for pain, nonsteroidal anti-inflammatory drugs, nonopioid or, in some cases, narcotic analgesics may be prescribed.[3] A systematic review found moderate quality evidence that spinal manipulation is effective for the treatment of acute lumbar radiculopathy[17] and cervical radiculopathy.[18] Only low level evidence was found to support spinal manipulation for the treatment of chronic lumbar radiculopathies, and no evidence was found to exist for treatment of thoracic radiculopathy.[17] Evidence also supports consideration of epidural steroid injection with local anesthetic in improving both pain and function in cases of lumbosacral radiculopathy.[19]
Cervical traction machine
### Rehabilitation[edit]
With a recent injury (e.g. one that occurred one week ago), a formal physical therapy referral is not yet indicated. Often mild to moderate injuries will resolve or greatly improve within the first few weeks. Additionally, patients with acute injuries are often too sore to participate effectively in physical therapy so soon after the insult. Waiting two to three weeks is generally recommended before starting formal physical therapy. In acute injury resulting in lumbosacral radiculopathy, conservative treatment such as acetaminophen and NSAIDs should be the first line of therapy.[1]
Therapeutic exercises are frequently used in combination with many of the previously mentioned modalities and with great results. A variety of exercise regimens are available in patient treatment. An exercise regimen should be modified according to the abilities and weaknesses of the patient.[20] Stabilization of the cervicothoracic region is helpful in limiting pain and preventing re-injury. Cervical and lumbar support braces typically are not indicated for radiculopathy, and may lead to weakness of support musculature.[21] The first part of the stabilization procedure is achieving a pain free full range of motion which can be accomplished through stretching exercises. Subsequently a strengthening exercise program should be designed to restore the deconditioned cervical, shoulder girdle, and upper trunk musculature.[22] As reliance on the neck brace diminishes, an isometric exercise regimen should be introduced.[medical citation needed] This is a preferred method of exercise during the sub-acute phase because it resists atrophy and is least likely to exacerbate the condition. Single plane resistance exercises against cervical flexion, extension, bending, and rotation are used.[citation needed]
### Surgery[edit]
While conservative approaches for rehabilitation are ideal, some patients will not improve and surgery is still an option. Patients with large cervical disk bulges may be recommended for surgery; however, most often, conservative management will help the herniation regress naturally.[23] Procedures such as foraminotomy, laminotomy, or discectomy may be considered by neurosurgeons and orthopedic surgeons. Regarding surgical interventions for cervical radiculopathy, the anterior cervical discectomy and fusion procedure is more commonly performed than the posterior cervical foraminotomy procedure.[24] However, both procedures are likely equally effective and without significant differences in their complication rates.[24]
## Epidemiology[edit]
Cervical radiculopathy has an annual incidence rate of 107.3 per 100,000 for men and 63.5 per 100,000 for women, whereas lumbar radiculopathy has a prevalence of approximately 3-5% of the population.[25][26] According to the AHRQ’s 2010 National Statistics for cervical radiculopathy, the most affected age group is between 45 and 64 years with 51.03% of incidents.[citation needed] Females are affected more frequently than males and account for 53.69% of cases. Private insurance was the payer in 41.69% of the incidents followed by Medicare with 38.81%. In 71.61% of cases the patients’ income was considered not low for their zipcode. Additionally over 50% of patients lived in large metropolitans (inner city or suburb). The South is the most severely affected region in the US with 39.27% of cases. According to a study performed in Minnesota, the most common manifestation of this set of conditions is the C7 monoradiculopathy, followed by C6.[27]
## See also[edit]
* Peripheral neuropathy
## References[edit]
1. ^ a b "Cervical Radiculopathy (Pinched Nerve)". OrthoInfo by American Academy of Orthopaedic Surgeons. June 2015. Retrieved 22 September 2017.
2. ^ "Pinched Nerve Symptoms & Treatment | Advanced Neurosurgery". Advanced Neurosurgery Associates. Retrieved 2020-12-14.
3. ^ a b c d e f g h i j k l m n Tarulli AW, Raynor EM (May 2007). "Lumbosacral radiculopathy" (PDF). Neurologic Clinics. 25 (2): 387–405. doi:10.1016/j.ncl.2007.01.008. PMID 17445735.
4. ^ Iyer S, Kim HJ (September 2016). "Cervical radiculopathy". Current Reviews in Musculoskeletal Medicine. 9 (3): 272–80. doi:10.1007/s12178-016-9349-4. PMC 4958381. PMID 27250042.
5. ^ a b Kuijer PP, Verbeek JH, Seidler A, Ellegast R, Hulshof CT, Frings-Dresen MH, Van der Molen HF (September 2018). "Work-relatedness of lumbosacral radiculopathy syndrome: Review and dose-response meta-analysis". Neurology. 91 (12): 558–564. doi:10.1212/01.wnl.0000544322.26939.09. PMC 6161552. PMID 30120136.
6. ^ Childress MA, Becker BA (May 2016). "Nonoperative Management of Cervical Radiculopathy". American Family Physician. 93 (9): 746–54. PMID 27175952.
7. ^ Tawa N, Rhoda A, Diener I (February 2017). "Accuracy of clinical neurological examination in diagnosing lumbo-sacral radiculopathy: a systematic literature review". BMC Musculoskeletal Disorders. 18 (1): 93. doi:10.1186/s12891-016-1383-2. PMID 28231784.
8. ^ Dworkin RH, Johnson RW, Breuer J, Gnann JW, Levin MJ, Backonja M, et al. (January 2007). "Recommendations for the management of herpes zoster". Clinical Infectious Diseases. 44 Suppl 1: S1-26. doi:10.1086/510206. PMID 17143845.
9. ^ a b Shapiro ED (May 2014). "Clinical practice. Lyme disease" (PDF). The New England Journal of Medicine. 370 (18): 1724–31. doi:10.1056/NEJMcp1314325. PMC 4487875. PMID 24785207. Archived from the original (PDF) on 19 October 2016.
10. ^ "Lyme Disease Data and surveillance". Lyme Disease. Centers for Disease Control and Prevention. 2019-02-05. Retrieved April 12, 2019.
11. ^ "Lyme Disease risk areas map". Risk of Lyme disease to Canadians. Government of Canada. 2015-01-27. Retrieved May 8, 2019.
12. ^ Ogrinc K, Lusa L, Lotrič-Furlan S, Bogovič P, Stupica D, Cerar T, et al. (August 2016). "Course and Outcome of Early European Lyme Neuroborreliosis (Bannwarth Syndrome): Clinical and Laboratory Findings". Clinical Infectious Diseases. 63 (3): 346–53. doi:10.1093/cid/ciw299. PMID 27161773.
13. ^ Malanga GA. "Cervical Radiculopathy Workup". Retrieved 2017-06-29. Updated: Dec 14, 2016
14. ^ So YT (1999). "Guidelines in electrodiagnostic medicine. Practice parameter for needle electromyographic evaluation of patients with suspected cervical radiculopathy" (PDF). Muscle & Nerve. Supplement. 8: S209-21. PMID 16921635.
15. ^ Cho SC, Ferrante MA, Levin KH, Harmon RL, So YT (August 2010). "Utility of electrodiagnostic testing in evaluating patients with lumbosacral radiculopathy: An evidence-based review". Muscle & Nerve. 42 (2): 276–82. doi:10.1002/mus.21759. PMID 20658602.
16. ^ "American Association of Neuromuscular & Electrodiagnostic Medicine". Choosing Wisely. 2015-02-10. Retrieved 2018-04-05.
17. ^ a b Leininger B, Bronfort G, Evans R, Reiter T (February 2011). "Spinal manipulation or mobilization for radiculopathy: a systematic review". Physical Medicine and Rehabilitation Clinics of North America. 22 (1): 105–25. doi:10.1016/j.pmr.2010.11.002. PMID 21292148.
18. ^ Zhu L, Wei X, Wang S (February 2016). "Does cervical spine manipulation reduce pain in people with degenerative cervical radiculopathy? A systematic review of the evidence, and a meta-analysis". Clinical Rehabilitation. 30 (2): 145–55. doi:10.1177/0269215515570382. PMID 25681406.
19. ^ Manchikanti L, Knezevic NN, Boswell MV, Kaye AD, Hirsch JA (March 2016). "Epidural Injections for Lumbar Radiculopathy and Spinal Stenosis: A Comparative Systematic Review and Meta-Analysis". Pain Physician. 19 (3): E365-410. PMID 27008296.
20. ^ Cleland JA, Whitman JM, Fritz JM, Palmer JA (December 2005). "Manual physical therapy, cervical traction, and strengthening exercises in patients with cervical radiculopathy: a case series". The Journal of Orthopaedic and Sports Physical Therapy. 35 (12): 802–11. doi:10.2519/jospt.2005.35.12.802. PMID 16848101.
21. ^ Muzin S, Isaac Z, Walker J, Abd OE, Baima J (June 2008). "When should a cervical collar be used to treat neck pain?". Current Reviews in Musculoskeletal Medicine. 1 (2): 114–9. doi:10.1007/s12178-007-9017-9. PMC 2684205. PMID 19468883.
22. ^ Saal JA, Saal JS (April 1989). "Nonoperative treatment of herniated lumbar intervertebral disc with radiculopathy. An outcome study". Spine. 14 (4): 431–7. doi:10.1097/00007632-198904000-00018. PMID 2718047.
23. ^ Heckmann JG, Lang CJ, Zöbelein I, Laumer R, Druschky A, Neundörfer B (October 1999). "Herniated cervical intervertebral discs with radiculopathy: an outcome study of conservatively or surgically treated patients". Journal of Spinal Disorders. 12 (5): 396–401. doi:10.1097/00002517-199910000-00008. PMID 10549703.
24. ^ a b Liu WJ, Hu L, Chou PH, Wang JW, Kan WS (November 2016). "Comparison of Anterior Cervical Discectomy and Fusion versus Posterior Cervical Foraminotomy in the Treatment of Cervical Radiculopathy: A Systematic Review". Orthopaedic Surgery. 8 (4): 425–431. doi:10.1111/os.12285. PMC 6584082. PMID 28032703.
25. ^ Berry JA, Elia C, Saini HS, Miulli DE (October 2019). "A Review of Lumbar Radiculopathy, Diagnosis, and Treatment". Cureus. 11 (10): e5934. doi:10.7759/cureus.5934. PMC 6858271. PMID 31788391.
26. ^ Woods BI, Hilibrand AS (June 2015). "Cervical radiculopathy: epidemiology, etiology, diagnosis, and treatment". Journal of Spinal Disorders & Techniques. 28 (5): E251-9. doi:10.1097/BSD.0000000000000284. PMID 25985461.
27. ^ Radhakrishnan K, Litchy WJ, O'Fallon WM, Kurland LT (April 1994). "Epidemiology of cervical radiculopathy. A population-based study from Rochester, Minnesota, 1976 through 1990". Brain. 117 (2): 325–35. doi:10.1093/brain/117.2.325. PMID 8186959.
## Further reading[edit]
* Pachner AR (1989-10-01). "Neurologic manifestations of Lyme disease, the new "great imitator"". Reviews of Infectious Diseases. 11 Suppl 6: S1482-6. doi:10.1093/clinids/11.supplement_6.s1482. PMID 2682960.
* Chou R, Hashimoto R, Friedly J, Fu R, Bougatsos C, Dana T, et al. (September 2015). "Epidural Corticosteroid Injections for Radiculopathy and Spinal Stenosis: A Systematic Review and Meta-analysis". Annals of Internal Medicine. 163 (5): 373–81. doi:10.7326/M15-0934. PMID 26302454. Lay summary – The New York Times (August 24, 2015).
## External links[edit]
Classification
D
* ICD-10: G54, M54.1
* ICD-9-CM: 723.4, 724.4, 729.2
* MeSH: D011843
* DiseasesDB: 29522
* SNOMED CT: 72274001
* Radiculopathy at the US National Library of Medicine Medical Subject Headings (MeSH)
* v
* t
* e
Spinal disease
Deforming
Spinal curvature
* Kyphosis
* Lordosis
* Scoliosis
Other
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non inflammatory
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* v
* t
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Diseases relating to the peripheral nervous system
Mononeuropathy
Arm
median nerve
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ulnar nerve
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* Ulnar tunnel syndrome
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* Radial neuropathy
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long thoracic nerve
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Leg
lateral cutaneous nerve of thigh
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plantar nerve
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Cranial nerves
* See Template:Cranial nerve disease
Polyneuropathy and Polyradiculoneuropathy
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Autoimmune and demyelinating disease
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Radiculopathy | c0700594 | 2,124 | wikipedia | https://en.wikipedia.org/wiki/Radiculopathy | 2021-01-18T19:09:31 | {"mesh": ["D011843"], "umls": ["C0700594", "C1527351"], "icd-9": ["723.4", "724.4", "729.2"], "wikidata": ["Q175180"]} |
Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Neuroendocrine neoplasm of appendix | c1879718 | 2,125 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100079 | 2021-01-23T18:23:38 | {"icd-10": ["C18.1", "D37.3"], "synonyms": ["Appendiceal NEN", "Appendiceal neuroendocrine neoplasm", "NEN of appendix"]} |
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | None | 2,126 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209902 | 2021-01-23T17:21:28 | {"icd-10": ["E78.0"]} |
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons. Axons are specialized extensions of nerve cells (neurons) that transmit nerve impulses. Symptoms of the disorder first become apparent in the peripheral nervous system, in which long axons connect the brain and spinal cord (central nervous system) to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. However, axons in the central nervous system are affected as well.
The signs and symptoms of giant axonal neuropathy generally begin in early childhood and get worse over time. Most affected individuals first have problems with walking. Later they may lose sensation, strength, and reflexes in their limbs; experience difficulty coordinating movements (ataxia); and require wheelchair assistance. Many affected individuals have an abnormal curvature of the spine (scoliosis). Visual and hearing problems may also occur. Many individuals with this condition have extremely kinky hair as compared to others in their family.
Giant axonal neuropathy can also impact the autonomic nervous system, which controls involuntary body processes. Affected individuals may experience problems with constipation, heat intolerance, and the release of urine (neurogenic bladder), and a reduction in or loss of the ability to sweat.
As the disorder worsens, paralysis, seizures, difficulty breathing or swallowing, and a gradual decline in mental function (dementia) can also occur. Most people with giant axonal neuropathy do not survive past their twenties.
Some affected individuals have a milder form of giant axonal neuropathy that begins later in life. Movement problems in these individuals are less severe, and the signs and symptoms usually worsen at a slower rate than in the classic form of the condition. Individuals with the milder form often have straight hair, and they may survive into adulthood.
## Frequency
Giant axonal neuropathy is a very rare disorder; only about 50 affected families have been described in the medical literature. The condition is thought to be under-diagnosed because its early symptoms resemble those of other, more common disorders affecting the peripheral nervous system, such as Charcot-Marie-Tooth disease.
## Causes
Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a process that identifies and gets rid of excess or damaged proteins within cells. In particular, gigaxonin plays a role in the breakdown of neurofilaments, which comprise the structural framework that establishes the size and shape of axons.
The GAN gene mutations that have been identified in people with giant axonal neuropathy result in an unstable gigaxonin protein that breaks down more easily than normal, resulting in much less gigaxonin in cells. In neurons without enough functional gigaxonin, neurofilaments that would otherwise have been broken down by the ubiquitin-proteasome system accumulate. The neurofilaments become densely packed in the giant axons of people with giant axonal neuropathy. These giant axons do not transmit signals properly and eventually deteriorate, resulting in the death of neurons. The loss of nerve cells leads to problems with walking and sensation in people with giant axonal neuropathy.
### Learn more about the gene associated with Giant axonal neuropathy
* GAN
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Giant axonal neuropathy | c1850386 | 2,127 | medlineplus | https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy/ | 2021-01-27T08:25:45 | {"gard": ["6500"], "mesh": ["D056768"], "omim": ["256850"], "synonyms": []} |
A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).
## Epidemiology
In the majority of European countries, the prevalence of acute hepatic porphyrias is around 1/75,000. In 80% of cases the patients are female, with the majority aged between 20 to 45 years.
## Clinical description
All acute hepatic porphyrias can be accompanied by neuro-visceral attacks that appear as intense abdominal pain (in 85-95% of cases) over one to two weeks, neurological symptoms (muscular weakness, sensory loss or convulsions) and psychological symptoms (irritability, anxiety, auditory or visual hallucinations, mental confusion). The attacks are most commonly triggered by exogenous factors (porphyrinogenic medicines, alcohol, infections, a hypo-calorific diet, stress), and/or endogenous factors (hormonal, linked to menstrual cycle). Cutaneous lesions are present in the majority of patients affected by variagate porphyria and in less than 15% of patients with hereditary coproporphyria.
## Etiology
Each acute hepatic porphyria is a result of a deficiency of one of the enzymes in the heme biosynthesis pathway. These deficiencies result in an accumulation of the precursors of porphyrins in the liver (delta-aminolevulinic acid, ALA and porphobilinogen, PBG) and also, in the case of variagate porphyria and hereditary coproporphyria, an accumulation of porphyrins resulting in cutaneous manifestations.
## Diagnostic methods
Diagnosis is based on evidence of elevated concentrations of ALA and especially PBG (pathognomic) and, sometimes, of porphyrins in urine, stools or plasma. The type of porphyria is defined by enzyme measurement followed by the correspondent characterization of the mutations of DNA.
## Differential diagnosis
Differential diagnoses include Guillain-Barré syndrome (see this term) and all causes of acute abdominal pain. Differential diagnoses for variagate porphyria and hereditary coproporphyria also include photosensitivity.
## Genetic counseling
Acute hepatic porphyrias are monogenic hereditary disorders that are transmitted in an autosomal dominant manner (except the hereditary deficit of delta-aminolevulinic acid which is autosomal recessive). Genetic counseling should be offered to patients and their families to identify individuals susceptible to developing or transmitting the disease.
## Management and treatment
When an acute attack is confirmed, urgent treatment with an injection of human hemin and/or perfusion of carbohydrates is required. Management includes the prevention of attacks (by avoiding causal factors) and the protection of skin from the light in cases of cutaneous manifestations.
## Prognosis
In certain patients attacks recur, resulting in the need for repeated and more frequent injections of human hemin. Crippling attacks can possibly indicate a hepatic transplant. However, in the majority of cases, the disease remains asymptomatic during all adult life and it is rarely progressive.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Acute hepatic porphyria | c0268328 | 2,128 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95157 | 2021-01-23T18:37:17 | {"mesh": ["C562618"], "umls": ["C0268328"], "icd-10": ["E80.2"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Pancreatic agenesis-holoprosencephaly syndrome | None | 2,129 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=556955 | 2021-01-23T18:03:57 | {"omim": ["618500"]} |
A number sign (#) is used with this entry because mulibrey (MUscle, LIver, BRain, and EYes) nanism ('dwarfism') is caused by homozygous or compound heterozygous mutation in the TRIM37 gene (605073), which encodes a peroxisomal protein, on chromosome 17q22.
Description
Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).
Clinical Features
Perheentupa et al. (1973) first described and named this disorder in 23 patients in Finland, including 3 pairs of affected sibs born of consanguineous parents. Growth failure was evident at birth and was progressive. The patients had a characteristic triangular face often with hydrocephaloid skull, gracility and muscular hypotonia, peculiar voice, enlarged liver, raised venous pressure due to pericardial constriction, and yellowish dots and pigment dispersion in the ocular fundi. Two-thirds of the patients had cutaneous nevi flammei and one-third had cystic dysplasia of the tibia. The geographic accumulation of cases in a sparsely settled region of Finland and the observation of parental consanguinity in some cases supported autosomal recessive inheritance.
Thoren (1973) described an Egyptian patient. Cumming et al. (1976) reported affected sibs living in Canada. Voorhees et al. (1976) reported the first affected child from the United States whose parents were second cousins. In a review of published cases, the authors identified other clinical features, including fibrous dysplasia of the tibia in 7 of 25, hypoplasia of the choroid in 11 of 11, yellowish dots and pigment dispersion in the ocular fundi in 23 of 25, long shallow sella turcica in 25 of 26, muscular hypotonia in 20 of 25, small voice and triangular face in all, and low birth weight and length in most.
Haraldsson et al. (1993) found both immunoglobulin deficiency and isolated growth hormone (GH1; 139250) deficiency in a 6.7-year-old girl with constrictive pericarditis, pigmentary retinopathy, and other features of mulibrey nanism. Therapy with human growth hormone resulted in increased growth velocity but did not improve humoral immune functions. Lapunzina et al. (1995) reported 2 affected sibs from Argentina and another patient from Spain. All 3 had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. Two had pericardial constriction. Pericardiectomy was performed in 1 patient at the age of 23 months with good results. The authors also reviewed the findings in 39 reported patients and grouped the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Balg et al. (1995) reported a boy who had typical manifestations as well as hypoplastic corpus callosum and a localized intraretinal fibrosis of the left eye. He also had hepatomegaly; constrictive pericarditis was discovered only after mulibrey nanism was diagnosed.
Jagiello et al. (2003) reported a Turkish family in Germany in which 3 sibs, a boy and 2 girls, had mulibrey nanism. The parents were said not to be related but originated from small neighboring villages in Turkey. A 12-year-old girl was mentally retarded and had a high-pitched voice. She had obvious craniofacial dysmorphism, including a large skull with broad forehead, hypertelorism with broad nasal bridge, high palate, microgenia, and deep set ears. She had proportionate growth reduction and hypotonia of the trunk. Other symptoms included moderate adiposity, acanthosis nigricans, various hemangiomas, insulin-resistant diabetes mellitus, hepatosplenomegaly, liver cirrhosis, fibrosis of the lung, and cardiomyopathy. The 21-year-old affected brother had disproportionate growth reduction, mental retardation, moderate adiposity, acanthosis nigricans, signs of 'diabetic metabolism,' hypogonadotropic hypogonadism, and isolated fibroma of the tibia. The 17-year-old sister displayed similar symptoms as her sibs, but had no signs of mental retardation, indicating a milder phenotype. None of the sibs showed pronounced muscular hypotonia.
Karlberg et al. (2004) reviewed the clinical characteristics of the 85 known Finnish patients with mulibrey nanism, most of whom were homozygous for the major Finnish TRIM37 mutation (605073.0001), and proposed revised diagnostic criteria for the disorder. The authors suggested that the diagnosis should be considered in infants born small for gestational age who have poor weight gain postnatally, hepatomegaly, and characteristic craniofacial features.
Karlberg et al. (2004) stated that approximately 110 patients with mulibrey nanism had been described worldwide, of whom 85 were Finnish. They reviewed the hospital and autopsy reports of the 22 Finnish female postpubertal patients with the disorder; they found an association between the disorder and both premature ovarian failure and fibrothecomas (ovarian stromal tumors). Their study indicated that hypergonadotropic premature ovarian failure with spontaneous puberty, incomplete breast development, and early irregularity of menstrual periods with subsequent ovarian failure and infertility ultimately develops in female patients with mulibrey nanism. Furthermore, such patients are at a very high risk for ovarian fibrothecoma. Karlberg et al. (2004) concluded that TRIM37 is a putative tumor suppressor gene for ovarian stromal cells.
Hamalainen et al. (2006) reported an Australian girl with mulibrey nanism. She first presented at age 10 months with short stature and facial dysmorphism, including dolichocephaly, high broad forehead, low depressed nasal bridge, and small pointed chin. Skeletal survey showed slender long bones with overtubulation and J-shaped sella turcica. Developmental milestones were age-appropriate. Initial diagnostic considerations included 3M syndrome (273750) and Silver-Russell syndrome (SRS; 180860). At age 18 months, she presented with abdominal distention and a large Wilms tumor, which led to the diagnosis of mulibrey nanism.
Mapping
By linkage analysis in affected Finnish families, Avela et al. (1997) identified a 7-cM candidate region on chromosome 17q flanked by D17S1799 and D17S948 (maximum multipoint lod score of 5.01). Linkage disequilibrium analysis narrowed the critical disease region within approximately 250 kb of marker D17S1853. Because patients with mulibrey nanism commonly have hypoplasia of various endocrine glands and hormone deficiencies, Avela et al. (1997) analyzed a microsatellite-repeat polymorphism at the growth hormone locus (GH1; 139250). Recombination in 1 family excluded it as a candidate gene. Likewise, the homeobox B cluster was excluded by the absence of linkage disequilibrium with a microsatellite-repeat marker at HOX2B (142961). Avela et al. (1997) concluded that the most likely physical location of the markers linked to the MUL locus was 17q21-q24.
Paavola et al. (1999) studied the location of the genes for Meckel syndrome (MKS1; 249000) and mulibrey nanism, which had been mapped to the same region, 17q21-q24. They constructed a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed and the entire MKS region was found to fall within the MUL region. However, in the common critical region, the conserved haplotypes were different in Meckel syndrome and mulibrey nanism patients. A transcript map was constructed by assigning ESTs and genes, derived from the human gene map, to the bacterial clone contig. Altogether, 4 genes and a total of 20 ESTs were precisely localized.
Molecular Genetics
By positional cloning, Avela et al. (2000) identified the MUL gene and found 4 independent mulibrey nanism-associated mutations (605073.0001-605073.0004). A 5-bp deletion (605073.0001) was found to be the major Finnish mutation.
In a Turkish family studied in Germany, Jagiello et al. (2003) found that mulibrey nanism cosegregated with a mutation in the TRIM37 gene (605073.0005).
In an Australian girl with mulibrey nanism, Hamalainen et al. (2006) identified compound heterozygosity for 2 mutations in the TRIM37 gene (605073.0006 and 605073.0007).
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature, prenatal onset \- Adult male height 136-161 cm \- Adult female height 126-151 cm \- Birth length 1.5-2 S.D. below mean Weight \- Birth weight 1.5-2 S.D. below mean HEAD & NECK Head \- Dolichocephaly Face \- Triangular face \- Frontal bossing Eyes \- Mild hypertelorism \- Yellowish dots in fundi \- Decreased retinal pigmentation with dispersion \- Hypoplasia of choroid \- Astigmatism \- Strabismus Nose \- Deep, broad nasal bridge Mouth \- Relatively small tongue Teeth \- Dental crowding \- Hypodontia of second bicuspid CARDIOVASCULAR Heart \- Pericardial constriction \- Globular shaped heart on x-ray \- Congestive heart failure \- Myocardial fibrosis Vascular \- Elevated venous pressure ABDOMEN Liver \- Hepatomegaly SKELETAL \- Normal bone age Skull \- J-shaped sella turcica \- Absent or small frontal sinus \- Absent or small sphenoidal sinus Limbs \- Fibrous dysplasia (especially tibia) SKIN, NAILS, & HAIR Skin \- Cutaneous nevi flammei (limbs) MUSCLE, SOFT TISSUES \- Muscular hypotonia NEUROLOGIC Central Nervous System \- Large cerebral ventricles and cisternae \- Normal intelligence \- Dysarthria VOICE \- Weak, high-pitched voice NEOPLASIA \- Wilms tumor MISCELLANEOUS \- Mulibrey is an acronym (MUscle, LIver, BRain, and EYes) \- Most patients are from Finland MOLECULAR BASIS \- Caused by mutation in the tripartite motif-containing 37 gene (TRIM37, 605073.0001 ) ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| MULIBREY NANISM | c0524582 | 2,130 | omim | https://www.omim.org/entry/253250 | 2019-09-22T16:24:54 | {"doid": ["0050436"], "mesh": ["D050336"], "omim": ["253250"], "orphanet": ["2576"], "synonyms": ["Alternative titles", "MUSCLE-LIVER-BRAIN-EYE NANISM", "PERICARDIAL CONSTRICTION AND GROWTH FAILURE", "PERHEENTUPA SYNDROME"]} |
Pyle disease is a bone disorder characterized by knock knees (genu valgum), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer of bone. Other findings may include excessive bone formation of the skull. Pyle disease is caused by mutations in the SFRP4 gene and is inherited in an autosomal recessive manner. Treatment may include management of resulting bone fractures and other orthopedic concerns.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Pyle disease | c0265294 | 2,131 | gard | https://rarediseases.info.nih.gov/diseases/4612/pyle-disease | 2021-01-18T17:58:02 | {"mesh": ["C536252"], "omim": ["265900"], "umls": ["C0265294"], "orphanet": ["3005"], "synonyms": ["Metaphyseal dysplasia", "Pyle's disease", "Metaphyseal dysplasia Pyle type"]} |
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Desmosterolosis
Other namesDeficiency of 3beta-hydroxysterol delta24-reductase[1]
Desmosterol
Desmosterolosis is a defect in cholesterol biosynthesis.[2] It results in an accumulation of desmosterol and a variety of associated symptoms.[3] Only two cases have been reported as of 2007.[4] The condition is due to inactivating mutations in 24-dehydrocholesterol reductase.[5] Certain anticholesterolemic and antiestrogenic drugs such as triparanol, ethamoxytriphetol, and clomifene have been found to inhibit conversion of desmosterol into cholesterol and to induce desmosterolosis, for instance cataracts.[6]
## References[edit]
1. ^ Reference, Genetics Home. "Desmosterolosis". Genetics Home Reference. Retrieved 14 April 2019.
2. ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12 Spec No 1 (90001): R75–88. doi:10.1093/hmg/ddg072. PMID 12668600.
3. ^ FitzPatrick DR, Keeling JW, Evans MJ, et al. (January 1998). "Clinical phenotype of desmosterolosis". Am. J. Med. Genet. 75 (2): 145–52. doi:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S. PMID 9450875.
4. ^ American Society for Clinical Investigation (31 October 2007). Science In Medicine: The JCI Textbook Of Molecular Medicine. Jones & Bartlett Learning. pp. 584–. ISBN 978-0-7637-5083-1.
5. ^ Waterham HR, Koster J, Romeijn GJ, et al. (October 2001). "Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis". Am. J. Hum. Genet. 69 (4): 685–94. doi:10.1086/323473. PMC 1226055. PMID 11519011.
6. ^ Philipp Y. Maximov; Russell E. McDaniel; V. Craig Jordan (23 July 2013). Tamoxifen: Pioneering Medicine in Breast Cancer. Springer Science & Business Media. pp. 34–. ISBN 978-3-0348-0664-0.
## External links[edit]
Classification
D
* ICD-10: Q87.8
* OMIM: 602398
* MeSH: C566555
External resources
* Orphanet: 35107
* v
* t
* e
Inborn errors of steroid metabolism
Mevalonate
pathway
* HMG-CoA lyase deficiency
* Hyper-IgD syndrome
* Mevalonate kinase deficiency
To cholesterol
* 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
* CHILD syndrome
* Conradi-Hünermann syndrome
* Lathosterolosis
* Smith–Lemli–Opitz syndrome
* desmosterol path: Desmosterolosis
Steroids
Corticosteroid
(including CAH)
* aldosterone: Glucocorticoid remediable aldosteronism
* cortisol/cortisone: CAH 17α-hydroxylase
* CAH 11β-hydroxylase
* both: CAH 3β-dehydrogenase
* CAH 21-hydroxylase
* Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
Sex steroid
To androgens
* 17α-Hydroxylase deficiency
* 17,20-Lyase deficiency
* Cytochrome b5 deficiency
* 3β-Hydroxysteroid dehydrogenase deficiency
* 17β-Hydroxysteroid dehydrogenase deficiency
* 5α-Reductase deficiency
* Pseudovaginal perineoscrotal hypospadias
To estrogens
* Aromatase deficiency
* Aromatase excess syndrome
Other
* X-linked ichthyosis
* Antley–Bixler syndrome
This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Desmosterolosis | c1865596 | 2,132 | wikipedia | https://en.wikipedia.org/wiki/Desmosterolosis | 2021-01-18T19:01:17 | {"gard": ["10283"], "mesh": ["C566555"], "umls": ["C1865596"], "orphanet": ["35107"], "wikidata": ["Q5264836"]} |
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.
Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."
## Frequency
MONA is rare; its prevalence is unknown. This condition has been reported in multiple populations worldwide.
## Causes
MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.
The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown.
### Learn more about the gene associated with Multicentric osteolysis, nodulosis, and arthropathy
* MMP2
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Multicentric osteolysis, nodulosis, and arthropathy | c1850155 | 2,133 | medlineplus | https://medlineplus.gov/genetics/condition/multicentric-osteolysis-nodulosis-and-arthropathy/ | 2021-01-27T08:25:21 | {"gard": ["7894"], "mesh": ["C536051"], "omim": ["259600"], "synonyms": []} |
Alveolar soft part sarcoma
Other namesAlveolar soft-tissue sarcoma
Micrograph of an alveolar soft part sarcoma, showing the characteristic alveolar-like architecture and cells with eccentric nuclei and abundant eosinophilic cytoplasm. H&E stain.
SpecialtyOncology
Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows slowly and whose cell of origin is unknown.
ASPS arises mainly in children and young adults and can migrate (metastasize) into other parts of the body, typically the lungs and the brain. Typically, ASPS arises in muscles and deep soft tissue of the thigh or the leg (lower extremities), but can also appear in the upper extremities (hands, neck, and head). While ASPS is a soft tissue sarcoma, it can also spread and grow inside the bones.
## Contents
* 1 Etymology
* 2 Causes
* 3 Diagnosis
* 3.1 Pathology
* 4 Prognosis
* 5 Epidemiology
* 6 Research
* 7 References
* 8 External links
## Etymology[edit]
* The term alveolar comes from the microscopic pattern, visible during the analysis of slides of ASPS under the microscope in histopathology. The tumor cells seem to be arranged in the same pattern as the cells of the small air sacks (alveoli) in the lungs. However, this is just a structural similarity. ASPS was first described and characterized in 1952.[1]
* ASPS is a sarcoma, and that indicates that this cancer initially arises from tissue of embryonic mesenchymal origin. (The fertilized egg divides and redivides forming a sphere. Early in embryogenesis, dimples appear in the poles of the sphere and burrow through the sphere forming an inner passage that will ultimately form the gut. Malignancies arising from cells that were originally part of the outer layer of the sphere and those that were part of the embryonic tunnel are termed carcinomas; malignancies arising from the cells between the outer layer and the inner burrow are termed sarcomas.)
## Causes[edit]
Chromosomal analysis of ASPS shows the breaking and joining of two chromosomes in the tumor cells. A piece of chromosome X breaks and is joined to chromosome 17.[2] This translocation creates a fusion between two genes named ASPL and TFE3, which results in the formation of an aberrant protein (termed fusion protein) that is not found in normal cells. Two sorts of fusions between chromosome X and chromosome 17 are found in different ASPS tumors: type one and type two.
Dr. Marc Ladanyi at Memorial Sloan-Kettering Cancer Center, in New York City, has pioneered this work. The resultant fusion protein ASPL–TFE3 is a rogue transcription factor that is the driver of aberrant cellular behavior including uncontrolled cell division and enhanced angiogenesis.
## Diagnosis[edit]
High-magnification micrograph showing the characteristic large cells with abundant eosinophilic, i.e. pink, cytoplasm and an eccentrically placed nucleus. H&E stain.
ASPS may exist in the patient’s body for a long time before being diagnosed. It can grow large and push aside surrounding tissues for a long time before causing any discomfort. Therefore, ASPS symptoms may either be a painless swelling, or a soreness caused by compressed nerves or muscles, affecting the range of motion in the area.
### Pathology[edit]
The definitive diagnosis of ASPS is based on its appearance under the microscope (i.e., its histomorphology), and presence of the characteristic chromosomal translocation (i.e., cytogenetics).
ASPS' histomorphologic features include an alveolar-like pattern at low magnification and the presence of large cells with abundant eosinophilic cytoplasm and eccentric nuclei. Calcifications are commonly present, as may be seen with slow-growing neoplasms.
## Prognosis[edit]
Although ASPS displays a relatively indolent course, the ultimate prognosis is poor and is often characterized by late metastases.[3]
## Epidemiology[edit]
ASPS is an extremely rare cancer. While sarcomas comprise about 1% of all newly diagnosed cancers, and 15% of all childhood cancers, ASPS comprises less than 1% of sarcomas. According to the American Cancer Society, about 9530 new cases of soft tissue sarcoma will be diagnosed in the USA in 2006. This predicts under 100 new cases of ASPS. Such low numbers of occurrence seriously impede the search for a cure by making it hard to gather any meaningful statistics about the disease. As a result, finding the best treatment option often involves making a lot of educated guesses.
## Research[edit]
* The first xenograft model of ASPS (for type one) was established in mice by David Vistica at the National Cancer Institute in Frederick, MD in 2009.[4] The same authors subsequently generated the first publicly available ASPS cell line (designated ASPS-1).[5]
* An important advance involved demonstrating that the ASPL–TFE3 fusion protein (a transcription factor) enhanced expression of the receptor tyrosine kinase c-MET, making ASPS sensitive to small-molecule kinase inhibitor such as sunitinib.[6][7]
* Current clinical trials are exploring the utility of kinase inhibitors (targeting growth factor pathways and angiogenesis); checkpoint inhibitors and cellular immunotherapies in the treatment of ASPS.[8]
* Researchers at the Huntsman Cancer Institute (HCI) in Utah demonstrated that ASPS might be driven in part by lactate both being used as a fuel and driving angiogenesis.[9]
* In terms of origin, it was recently demonstrated that although ASPS generally arises in muscle tissue, the cells do not express muscle markers at the mRNA level and more closely resemble mesenchymal stromal cells.[10]
## References[edit]
1. ^ Christopherson WM, Foote FW, Stewart FW (1952). "Alveolar soft part sarcomas: structurally characteristic tumors of uncertain histogenesis". Cancer. 1952 (5): 100–111. doi:10.1002/1097-0142(195201)5:1<100::aid-cncr2820050112>3.0.co;2-k. PMID 14886902.
2. ^ Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, et al. (January 2001). "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25". Oncogene. 20 (1): 48–57. doi:10.1038/sj.onc.1204074. PMID 11244503.
3. ^ Shelke P, Sarode GS, Sarode SC, Anand R, Prajapati G, Patil S (2018). "Alveolar soft-part sarcoma of the oral cavity: A review of literature". Rare Tumors. 10: 2036361318810907. doi:10.1177/2036361318810907. PMC 6299302. PMID 30574289.
4. ^ Vistica DT, Hollingshead M, Borgel SD, Kenney S, Stockwin LH, Raffeld M, et al. (August 2009). "Therapeutic vulnerability of an in vivo model of alveolar soft part sarcoma (ASPS) to antiangiogenic therapy". Journal of Pediatric Hematology/Oncology. 31 (8): 561–70. doi:10.1097/MPH.0b013e3181a6e043. PMC 2784654. PMID 19636271.
5. ^ Kenney S, Vistica DT, Stockwin LH, Burkett S, Hollingshead MG, Borgel SD, et al. (July 2011). "ASPS-1, a novel cell line manifesting key features of alveolar soft part sarcoma". Journal of Pediatric Hematology/Oncology. 33 (5): 360–8. doi:10.1097/MPH.0b013e3182002f9f. PMC 7518051. PMID 21552147. S2CID 25794748.
6. ^ Tsuda M, Davis IJ, Argani P, Shukla N, McGill GG, Nagai M, et al. (February 2007). "TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition". Cancer Research. 67 (3): 919–29. doi:10.1158/0008-5472.CAN-06-2855. PMID 17283122.
7. ^ Kummar S, Allen D, Monks A, Polley EC, Hose CD, Ivy SP, et al. (June 2013). "Cediranib for metastatic alveolar soft part sarcoma". Journal of Clinical Oncology. 31 (18): 2296–302. doi:10.1200/JCO.2012.47.4288. PMC 3677840. PMID 23630200.
8. ^ Brahmi M, Vanacker H, Dufresne A (July 2020). "Novel therapeutic options for alveolar soft part sarcoma: antiangiogenic therapy, immunotherapy and beyond". Current Opinion in Oncology. 32 (4): 295–300. doi:10.1097/CCO.0000000000000652. PMID 32541316.
9. ^ Goodwin ML, Jin H, Straessler K, Smith-Fry K, Zhu JF, Monument MJ, et al. (December 2014). "Modeling alveolar soft part sarcomagenesis in the mouse: a role for lactate in the tumor microenvironment". Cancer Cell. 26 (6): 851–862. doi:10.1016/j.ccell.2014.10.003. PMC 4327935. PMID 25453902.
10. ^ Stockwin LH (2020-06-19). "Alveolar soft-part sarcoma (ASPS) resembles a mesenchymal stromal progenitor: evidence from meta-analysis of transcriptomic data". PeerJ. 8: e9394. doi:10.7717/peerj.9394. PMC 7307565. PMID 32596059.
## External links[edit]
Classification
D
* ICD-10: C49.9
* ICD-O: M9581/3
* OMIM: 606243
* MeSH: D018234
External resources
* Orphanet: 163699
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Alveolar soft part sarcoma | c0206657 | 2,134 | wikipedia | https://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma | 2021-01-18T19:03:01 | {"gard": ["5654"], "mesh": ["D018234"], "umls": ["C0279985", "C0279544", "C0206657"], "orphanet": ["163699"], "wikidata": ["Q4063436"]} |
A number sign (#) is used with this entry because of evidence that choanal atresia and lymphedema (CATLPH) is caused by homozygous mutation in the PTPN14 gene (603155) on chromosome 1q32-q41.
Clinical Features
Qazi et al. (1982) reported a consanguineous Yemenite family in which a brother and sister and their paternal aunt had posterior choanal atresia. The boy also had a high-arched palate, hypoplastic nipples, and mild pectus excavatum, and the aunt had a high-arched palate. All 4 parents of the 3 affected persons could be traced to a common ancestral couple 2 or 3 generations earlier.
Har-El et al. (1991) provided follow-up of the family reported by Qazi et al. (1982). The boy and his paternal aunt from the original report both developed lymphedema of the lower extremities at age 5 years. The sister had died at age 5 months. Three additional family members with both choanal atresia and lower extremity lymphedema were identified.
Bordbar et al. (2017) reported a 2-year-old Iranian girl born to first-cousin parents. She presented with intrauterine growth restriction and severe respiratory distress at birth and was diagnosed with bilateral choanal atresia. Dysmorphic features included hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, high-arched palate, and small nipples. Transient hypothyroidism resolved by 1 year of age. She had a small muscular ventricular septal defect (VSD). At 2 months she developed swelling of both feet to the ankles. At 22 months, the edema of her feet was firm, fibrotic, and pitting. Neither lymphatic vessel nor lymph nodes were seen by lymphoscintigraphy. There was no lymphedema in any other part of the body. Her parents had no lymphedema. At 24 months, her height and weight remained below the third percentile and her head circumference was at the tenth percentile. CT scan of brain, and hearing and vision, were normal. She had mild developmental delays attributed to the 7 surgeries and prolonged NICU stay in the first year of life.
Inheritance
Har-El et al. (1991) suggested autosomal recessive inheritance of choanal atresia and lymphedema in a Yemenite family.
Molecular Genetics
In affected members of a family with choanal atresia and lymphedema reported by Qazi et al. (1982) and Har-El et al. (1991), Au et al. (2010) identified a homozygous mutation in the PTPN14 gene (603155.0001). The mutation was ascertained by homozygosity mapping followed by candidate gene sequencing.
In a patient with bilateral choanal atresia and lymphedema, Bordbar et al. (2017) detected a homozygous frameshift mutation in the PTPN14 gene (603155.0002).
INHERITANCE \- Autosomal recessive HEAD & NECK Nose \- Choanal atresia Mouth \- High-arched palate CARDIOVASCULAR Heart \- Pericardial effusion MUSCLE, SOFT TISSUES \- Lymphedema, lower extremities MISCELLANEOUS \- Onset of edema in infancy or childhood MOLECULAR BASIS \- Caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 14 gene (PTPN14, 603155.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| CHOANAL ATRESIA AND LYMPHEDEMA | c3150875 | 2,135 | omim | https://www.omim.org/entry/613611 | 2019-09-22T15:58:15 | {"omim": ["613611"], "orphanet": ["99141"], "synonyms": []} |
Shrinkage of the breasts
Breast atrophy
15th century sculpture depicting breast atrophy
Breast atrophy is the normal or spontaneous atrophy or shrinkage of the breasts.[1]
Breast atrophy commonly occurs in women during menopause when estrogen levels decrease.[2][3][4] It can also be caused by hypoestrogenism and/or hyperandrogenism in women in general,[1] such as in antiestrogen treatment for breast cancer, in polycystic ovary syndrome (PCOS),[5][6] and in malnutrition such as that associated with eating disorders like anorexia nervosa or with chronic disease.[1][7][8] It can also be an effect of weight loss.[8][9]
In the treatment of gynecomastia in males and macromastia in women, and in hormone replacement therapy (HRT) for trans men,[10] breast atrophy may be a desired effect.
Examples of treatment options for breast atrophy, depending on the situation/when appropriate, can include estrogens, antiandrogens, and proper nutrition or weight gain.[citation needed]
## See also[edit]
* Mammoplasia
* Micromastia
## References[edit]
1. ^ a b c Prem Puri; Michael E. Höllwarth (28 May 2009). Pediatric Surgery: Diagnosis and Management. Springer Science & Business Media. pp. 257–258. ISBN 978-3-540-69560-8.
2. ^ Melvin A. Shiffman (24 December 2009). Mastopexy and Breast Reduction: Principles and Practice. Springer Science & Business Media. pp. 42–. ISBN 978-3-540-89873-3.
3. ^ Kristen A. Atkins; Christina Kong (29 October 2012). Practical Breast Pathology: A Diagnostic Approach: A Volume in the Pattern Recognition Series. Elsevier Health Sciences. pp. 67–. ISBN 1-4557-3340-7.
4. ^ Thomas J. Lawton (27 April 2009). Breast. Cambridge University Press. pp. 1–. ISBN 978-0-521-88159-3.
5. ^ Ricardo Azziz (3 July 2007). The Polycystic Ovary Syndrome: Current Concepts on Pathogenesis and Clinical Care. Springer Science & Business Media. pp. 20–. ISBN 978-0-387-69248-7.
6. ^ Susan Scott Ricci; Terri Kyle (2009). Maternity and Pediatric Nursing. Lippincott Williams & Wilkins. pp. 213–. ISBN 978-0-7817-8055-1.
7. ^ J.P. Lavery; J.S. Sanfilippo (6 December 2012). Pediatric and Adolescent Obstetrics and Gynecology. Springer Science & Business Media. pp. 99–. ISBN 978-1-4612-5064-7.
8. ^ a b Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (2006). Oski's Pediatrics: Principles & Practice. Lippincott Williams & Wilkins. pp. 558–. ISBN 978-0-7817-3894-1.
9. ^ Cynthia Feucht; Donald E. Greydanus; Joav Merrick; Hatim A. Omar; Dilip R. Patel (2 April 2012). Pharmacotherapeutics in General, Mental and Sexual Health. Walter de Gruyter. pp. 287–. ISBN 978-3-11-025570-6.
10. ^ Merril D. Smith (8 September 2014). Cultural Encyclopedia of the Breast. Rowman & Littlefield Publishers. pp. 121–. ISBN 978-0-7591-2332-8.
## External links[edit]
Classification
D
* ICD-10: N64.2
* ICD-9-CM: 611.4
* v
* t
* e
Breast disease
Inflammation
* Mastitis
* Nonpuerperal mastitis
* Subareolar abscess
* Granulomatous mastitis
Physiological changes
and conditions
* Benign mammary dysplasia
* Duct ectasia of breast
* Chronic cystic mastitis
* Mammoplasia
* Gynecomastia
* Adipomastia (lipomastia, pseudogynecomastia)
* Breast hypertrophy
* Breast atrophy
* Micromastia
* Amastia
* Anisomastia
* Breast engorgement
Nipple
* Nipple discharge
* Galactorrhea
* Inverted nipple
* Cracked nipples
* Nipple pigmentation
Masses
* Galactocele
* Breast cyst
* Breast hematoma
* Breast lump
* Pseudoangiomatous stromal hyperplasia
Other
* Pain
* Tension
* Ptosis
* Fat necrosis
* Amazia
This medical symptom article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Breast atrophy | c0151511 | 2,136 | wikipedia | https://en.wikipedia.org/wiki/Breast_atrophy | 2021-01-18T18:35:20 | {"wikidata": ["Q23808178"]} |
Steatosis
Other namesFatty change, fatty degeneration, adipose degeneration
Micrograph demonstrating marked (macrovesicular) steatosis in non-alcoholic fatty liver disease. Masson's trichrome stain.
SpecialtyGastroenterology
ComplicationsFatty liver disease
Steatosis, also called fatty change, is abnormal retention of fat (lipids) within a cell or organ.[1] Steatosis most often affects the liver – the primary organ of lipid metabolism – where the condition is commonly referred to as fatty liver disease. Steatosis can also occur in other organs, including the kidneys, heart, and muscle.[2] When the term is not further specified (as, for example, in 'cardiac steatosis'), it is assumed to refer to the liver.[3]
Risk factors associated with steatosis are varied, and may include diabetes mellitus, protein malnutrition, hypertension,[4] cell toxins, obesity,[5] anoxia,[2] and sleep apnea.[6]
Steatosis reflects an impairment of the normal processes of synthesis and elimination of triglyceride fat. Excess lipid accumulates in vesicles that displace the cytoplasm. When the vesicles are large enough to distort the nucleus, the condition is known as macrovesicular steatosis; otherwise, the condition is known as microvesicular steatosis. While not particularly detrimental to the cell in mild cases, large accumulations can disrupt cell constituents, and in severe cases the cell may even burst.
## Contents
* 1 Pathogenesis
* 1.1 Macrovesicular steatosis
* 1.2 Microvesicular steatosis
* 2 Histology
* 3 Medical imaging
* 4 Incidence
* 5 See also
* 6 References
* 7 External links
## Pathogenesis[edit]
No single mechanism leading to steatosis exists; rather, a varied multitude of pathologies disrupt normal lipid movement through the cell and cause accumulation.[7] These mechanisms can be separated on whether they ultimately cause an oversupply of lipid which can not be removed quickly enough (i.e., too much in), or whether they cause a failure in lipid breakdown (i.e., not enough used).
Failure of lipid metabolism can also lead to the mechanisms which would normally utilise or remove lipids becoming impaired, resulting in the accumulation of unused lipids in the cell. Certain toxins, such as alcohols, carbon tetrachloride, aspirin, and diphtheria toxin, interfere with cellular machinery involved in lipid metabolism. In those with Gaucher's disease, the lysosomes fail to degrade lipids and steatosis arises from the accumulation of glycolipids. Protein malnutrition, such as that seen in kwashiorkor, results in a lack of precursor apoproteins within the cell, therefore unused lipids which would normally participate in lipoprotein synthesis begin to accumulate.
### Macrovesicular steatosis[edit]
Macrovesicular steatosis is the more common form of fatty degeneration and may be caused by oversupply of lipids due to obesity, obstructive sleep apnea (OSA),[8] insulin resistance, or alcoholism. Nutrient malnutrition may also cause the mobilisation of fat from adipocytes and create a local oversupply in the liver where lipid metabolism occurs. Excess alcohol over a long period of time can induce steatosis. The breakdown of large amounts of ethanol in alcoholic drinks produces large amounts of chemical energy in the form of NADH, signalling to the cell to inhibit the breakdown of fatty acids (which also produces energy) and simultaneously increase the synthesis of fatty acids. This "false sense of energy" results in more lipid being created than is needed.
### Microvesicular steatosis[edit]
Microvesicular steatosis is characterized by small intracytoplasmic fat vacuoles (liposomes) which accumulate in the cell. Common causes are tetracyclines, acute fatty liver of pregnancy, Reye's syndrome, and hepatitis C.
## Histology[edit]
Histologically, steatosis is physically apparent as lipid within membrane bound liposomes of parenchymal cells.[2] When this tissue is fixed and stained to be better viewed under a microscope, the lipid is usually dissolved by the solvents used to prepare the sample. As such, samples prepared this way will appear to have empty holes (or vacuoles) within the cells where the lipid has been cleared. Special lipid stains, such as Sudan stains and osmium tetroxide are able to retain and show up lipid droplets, hence more conclusively indicating the presence of lipids. Other intracellular accumulations, such as water or glycogen, can also appear as clear vacuoles, therefore it becomes necessary to use stains to better decide what is accumulating.
Grossly, steatosis causes organ enlargement and lightening in colour.[2] This is due to the high lipid content increasing the organ's volume and becoming visible to the unaided eye. In severe cases, the organ may become vastly enlarged, greasy, and yellow in appearance.
* Histological section of a mouse's liver showing severe steatosis. The clear vacuoles contained lipid in life; however, histological fixation caused it to be dissolved and hence only empty/clear spaces are seen.
* Micrograph of fatty liver showing lipid steatosis. H&E stain.
## Medical imaging[edit]
Liver steatosis (fatty liver disease) as seen on CT
On X-ray computed tomography (CT), the increased fat component will decrease the density of the liver tissue, making the image less bright. Typically the density of the spleen and liver are roughly equivalent. In steatosis, there is a difference between the density and brightness of the two organs, with the liver appearing darker.[9] On ultrasound, fat is more echogenic (capable of reflecting sound waves). The combination of liver steatosis being dark on CT and bright on ultrasound is sometimes known as the flip flop sign.
On magnetic resonance imaging, multiecho gradient echo images can be used to determine the percent fat fraction of the liver.[10] The different resonance frequencies between water and fat make this technique very sensitive and accurate. Acquisition of echoes in "in phase" and "out phase" conditions (pertaining to the relative phases of the fat and water proton contingents) enables to obtain a signal proportional to the water and fat contingent, or a signal proportional to the water minus the fat contingent. These signal intensities are then algebraically combined into a percent fat. More recent techniques take into account experimental noise, signal decay and spectroscopic properties of fat. Numerous validation studies have demonstrated excellent correlations between the steatosis level quantified at MRI and the steatosis levels semi-quantitavely and quantitatively determined on liver biopsies (reference methods). Several MRI vendors offer automated calculation of percent fat with acquisition sequences no longer than a single breath hold.
On abdominal ultrasonography, steatosis is seen as a hyperechoic liver as compared to the normal kidney.
* Liver steatosis (fatty liver disease) as seen on MRI. Multiecho MR sequence in a healthy liver (top row) and a liver with severe steatosis (bottom row) are shown. In the healthy liver, the signal does not vary much in the different echoes. In the steatotic liver, the signal varies greatly between in and out phase echoes. Algebraic combination of these images can be used to accurately quantify liver steatosis.
* Abdominal ultrasonography with the liver and kidney side by side (left image) may give a false impression of hyperechogenic liver, so it's preferably done with the organ borders facing the ultrasound probe (right image, of the same case).
* Abdominal ultrasonography of focal steatosis. It is distinguished from a tumor by not compressing the hepatic vein.
## Incidence[edit]
In Bristol University's study Children of the 90s, 2.5% of 4,000 people born in 1991 and 1992 were found by ultrasound scanning at the age of 18 to have non-alcoholic fatty liver disease; five years later transient elastography (fibroscan) found over 20% to have the fatty deposits on the liver of steatosis, indicating non-alcoholic fatty liver disease; half of those were classified as severe. The scans also found that 2.4% had the liver scarring of fibrosis, which can lead to cirrhosis.[11]
Wikimedia Commons has media related to Elastography.
## See also[edit]
* Fatty liver disease
* Lipid metabolism
* Non-alcoholic fatty liver disease
* Visceral fat
* Fat globules
## References[edit]
1. ^ "steatosis". Farlex Dictionary. Retrieved 2019-01-03.
2. ^ a b c d Cotran; Kumar, Collins (1998). Robbins Pathologic Basis of Disease. Philadelphia: W.B Saunders Company. ISBN 0-7216-7335-X.
3. ^ "steatosis". Oxford dictionaries. Retrieved 2019-01-03.
4. ^ Brookes MJ, Cooper BT (April 2007). "Hypertension and fatty liver: guilty by association?". J Hum Hypertens. 21 (4): 264–70. doi:10.1038/sj.jhh.1002148. PMID 17273155.
5. ^ Saadeh S (February 2007). "Nonalcoholic Fatty liver disease and obesity". Nutr Clin Pract. 22 (1): 1–10. doi:10.1177/011542650702200101. PMID 17242448.
6. ^ Ahmed MH, Byrne CD (September 2010). "Obstructive sleep apnea syndrome and fatty liver: association or causal link?". World J. Gastroenterol. 16 (34): 4243–52. doi:10.3748/wjg.v16.i34.4243. PMC 2937104. PMID 20818807.
7. ^ Wilson CH, Ali ES, Scrimgeour N, Martin AM, Hua J, Tallis GA, Rychkov GY, Barritt GJ (March 2015). "Steatosis inhibits liver cell store-operated Ca²⁺ entry and reduces ER Ca²⁺ through a protein kinase C-dependent mechanism". Biochem. J. 466 (2): 379–90. doi:10.1042/BJ20140881. PMID 25422863.
8. ^ Bhattacharjee R, Gozal D (September 2010). "Metabolic disease in sleep disordered breathing: puberty! puberty!". Sleep. 33 (9): 1133–4. doi:10.1093/sleep/33.9.1133. PMC 2938852. PMID 20857857.
9. ^ Helms, Clyde A.; Brant, William E. (2007). Fundamentals of diagnostic radiology. Phila: Lippincott, Williams & Wilkins. ISBN 978-0-7817-6135-2.[page needed]
10. ^ Reeder SB, Cruite I, Hamilton G, Sirlin CB (October 2011). "Quantitative Assessment of Liver Fat with Magnetic Resonance Imaging and Spectroscopy". J Magn Reson Imaging. 34 (4): 729–749. doi:10.1002/jmri.22775. PMC 3177109. PMID 22025886.
11. ^ Sarah Boseley (12 April 2019). "Experts warn of fatty liver disease 'epidemic' in young people". The Guardian.
## External links[edit]
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| Steatosis | c0152254 | 2,137 | wikipedia | https://en.wikipedia.org/wiki/Steatosis | 2021-01-18T19:04:29 | {"icd-9": ["272.8"], "icd-10": ["E88.8"], "wikidata": ["Q1365091"]} |
A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive.
*[v]: View this template
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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| Interdigitating dendritic cell sarcoma | c0024302 | 2,138 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86900 | 2021-01-23T17:37:44 | {"mesh": ["D008228", "D054739"], "omim": ["267730"], "umls": ["C0024302", "C1260326"], "icd-10": ["C96.4"], "synonyms": ["Interdigitating cell sarcoma", "Reticulum cell sarcoma"]} |
Laurence–Moon syndrome
Laurence–Moon syndrome has an autosomal recessive pattern of inheritance
SpecialtyMedical genetics
Laurence–Moon syndrome (LMS) is a rare autosomal recessive[1] genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities.[2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Eponym and nomenclature
* 6 References
* 7 External links
## Signs and symptoms[edit]
Intellectual disability, hexadactyly, central diabetes insipidus, blindness (usually by 30 years due to central retinal degeneration).
## Genetics[edit]
LMS is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
## Diagnosis[edit]
The syndrome was originally thought to have five cardinal features (and recently a sixth was added), on the basis of which a diagnostic criteria was developed: 4 primary features or 3 primary features and 2 secondary features must be present.
The primary features are: 1\. Polydactyly 2\. Rod-cone dystrophy 3\. Learning disabilities 4\. Obesity 5\. Hypogonadism in males 6\. Renal abnormalities
While the secondary features are stated to be as: 1\. Speech disorder and/or developmental delay 2\. Ophthalmic abnormalities other than rod-cone dystrophy (strabismus, cataract, astigmatism etc) 3\. Brachydactyly or Syndactyly 4\. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5\. Ataxia, poor coordination, imbalance 6\. Mild spasticity (especially lower limbs) 7\. Diabetes mellitus 8\. Dental crowding, hypodontia, small roots, high arched palate 9\. Congenital heart disease 10\. Hepatic fibrosis
## Treatment[edit]
There is no cure to LNMS. However, symptomatic treatment is often provided. The patients with LNMS often experience ataxia, spasticity and contractures, restricting their movements and daily activities. Therefore, multi-disciplinary approach is required including physical therapies, psychiatric and ophthalmogic consultations, nutrition and well-balanced diet. Physical therapy aims at improving the strength and ability using assisting tools such as ankle-foot orthitic braces, weight-bearing walkers and regular exercise.[citation needed]
## Eponym and nomenclature[edit]
It is named after the physicians John Zachariah Laurence and Robert Charles Moon who provided the first formal description of the condition in a paper published in 1866.[3][4] In the past, LMS has also been referred to as Laurence–Moon–Bardet–Biedl or Laurence–Moon–Biedl–Bardet syndrome, but Bardet–Biedl syndrome (BBS) is now usually recognized as a separate entity.[5]
Recent advances in genetic typing of the phenotypically-wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct. For example, a 1999 epidemiological study of BBS and LMS reported that "BBS proteins interact and are necessary for the development of many organs." "Two patients [in the study] were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct."[6] A more recent 2005 paper also suggests that the two conditions are not distinct.[7]
## References[edit]
1. ^ a b Farag, T. I.; Teebi, A. H. W. S. (Feb 1988). "Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population". Clinical Genetics. 33 (2): 78–82. doi:10.1111/j.1399-0004.1988.tb03414.x. PMID 3359670. S2CID 43584088.
2. ^ "Laurence-Moon Syndrome | Doctor | Patient". Patient. Retrieved 13 December 2016.
3. ^ synd/3746 at Who Named It?
4. ^ Laurence J.Z., Moon R.C.: Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development, Ophthal. Rev. 1866, 2:32–41
5. ^ Online Mendelian Inheritance in Man (OMIM): 245800
6. ^ Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1 June 1999). "New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey". J. Med. Genet. 36 (6): 437–46. doi:10.1136/jmg.36.6.437 (inactive 2021-01-10). PMC 1734378. PMID 10874630. Archived from the original on 14 March 2008. Retrieved 21 March 2010.CS1 maint: DOI inactive as of January 2021 (link)
7. ^ Moore S, Green J, Fan Y, et al. (2005). "Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A. 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMC 3295827. PMID 15637713.
## External links[edit]
Classification
D
* ICD-10: Q87.8
* ICD-9-CM: 759.89
* OMIM: 245800
* MeSH: D007849
* DiseasesDB: 30072
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Congenital abnormality syndromes
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| Laurence–Moon syndrome | c0023138 | 2,139 | wikipedia | https://en.wikipedia.org/wiki/Laurence%E2%80%93Moon_syndrome | 2021-01-18T18:42:33 | {"gard": ["12635"], "mesh": ["D007849"], "umls": ["C0023138"], "icd-9": ["759.89"], "icd-10": ["Q87.8"], "orphanet": ["2377"], "wikidata": ["Q3961678"]} |
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder.
The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.
## Frequency
Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.
## Causes
Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit visual signals from the eye to the brain when light is dim.
The RHO gene provides instructions for making a protein called rhodopsin, which is turned on (activated) by light entering the eye. Rhodopsin then attaches (binds) to and activates the protein produced from the GNAT1 gene, alpha (α)-transducin. The α-transducin protein then triggers the activation of a protein called cGMP-PDE, which is made up of multiple parts (subunits) including a subunit produced from the PDE6B gene. Activated cGMP-PDE triggers a series of chemical reactions that create electrical signals. These signals are transmitted from rod cells to the brain, where they are interpreted as vision.
Mutations in the RHO, GNAT1, or PDE6B gene disrupt the normal signaling that occurs within rod cells. As a result, the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light.
### Learn more about the genes associated with Autosomal dominant congenital stationary night blindness
* GNAT1
* PDE6B
* RHO
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
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*[ND]: No data
*[NOP]: Nociceptin receptor
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| Autosomal dominant congenital stationary night blindness | c1864869 | 2,140 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness/ | 2021-01-27T08:24:52 | {"mesh": ["C566474"], "omim": ["610445", "163500", "610444"], "synonyms": []} |
Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
## Epidemiology
This syndrome has been reported in two sibs.
## Genetic counseling
The inheritance is probably autosomal recessive.
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*[AA]: Adrenergic agonist
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*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
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*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
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*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Upper limb defect-eye and ear abnormalities syndrome | c1848816 | 2,141 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2489 | 2021-01-23T17:37:57 | {"mesh": ["C564769"], "omim": ["274205"], "umls": ["C1848816"], "icd-10": ["Q87.8"]} |
Weismann-Netter–Stuhl syndrome
Other namesWeismann-Netter syndrome, tibioperoneal diaphyseal toxopachyosteosis
Weismann-Netter–Stuhl syndrome is inherited in an autosomal dominant manner.
Weismann-Netter–Stuhl syndrome, also known as Weismann-Netter syndrome or tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized by bowing of the lower legs and an abnormal thickening of thinner bone in the leg.[1]
The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and fibulae. It is thought to be inherited in an autosomal dominant fashion and is most often bilateral and symmetric in nature. Associated features include dwarfism and mild intellectual disability as well as a process known as tibialization of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae.[2] The combination of the presence of tibialization of the fibulae, which is highly specific for the disorder, and the absence of laboratory abnormalities, ruling out alternative diagnoses including rickets, essentially confirms the diagnosis.
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Radiographic features
* 3 Management
* 4 History
* 5 References
* 6 External links
## Cause[edit]
This condition is currently felt to be a genetic disorder, caused by inheritance of an abnormal gene via autosomal dominant inheritance.[citation needed]
## Diagnosis[edit]
### Radiographic features[edit]
The most prominent and extensively documented findings of Weismann-Netter–Stuhl syndrome are on plain radiographs of the bones. Findings include bilateral and symmetric anterior bowing of both tibiae and fibulae, lateral bowing of the tibiae, femoral bowing, and squaring of iliac and pelvis bones.[3]
## Management[edit]
This section is empty. You can help by adding to it. (August 2017)
## History[edit]
The features of this disorder were first described by French doctors Robert Weismann-Netter (1894–1980)[4] and L. Stuhl in their report first describing the association in seven patients in 1954.[5] They believed these seven patients had mistakenly been diagnosed as congenital syphilis or rickets, which remain the primary considerations in the differential diagnosis of this syndrome today.[citation needed]
## References[edit]
1. ^ Gupta, P.; Mittal, R.; Mittal, S.; Shankar, V. (2014). "Weismann-Netter-Stuhl syndrome: report of two cases and treatment". Case Reports. 2014 (feb04 2): bcr2013201772. doi:10.1136/bcr-2013-201772. ISSN 1757-790X. PMC 3918600. PMID 24496066.
2. ^ Robinow, M.; Johnson, G. F. (March 1988). "The Weismann-Netter syndrome". American Journal of Medical Genetics. 29 (3): 573–579. doi:10.1002/ajmg.1320290315. ISSN 0148-7299. PMID 3377000.
3. ^ Peippo, Maarit; Valanne, Leena; Perhomaa, Marja; Toivanen, Leena; Ignatius, Jaakko (November 2009). "Weismann-Netter syndrome and mental retardation: a new patient and review of the literature". American Journal of Medical Genetics. Part A. 149A (11): 2593–2601. doi:10.1002/ajmg.a.33019. ISSN 1552-4833. PMID 19839038.
4. ^ Beighton, Peter; Beighton, Greta (2012-12-06). The Man Behind the Syndrome. Springer Science & Business Media. p. 231. ISBN 978-1-4471-1415-4.
5. ^ Weismann-Netter, R.; Stuhl, L. (1954-11-24). "[Congenital osteopathy eventually familial defined especially by antero-posterior incurvation and thickening of both bones of the leg: diaphyseal tibio-peroneal toxopachyostosis]". La Presse Médicale. 62 (78): 1618–1622. ISSN 0032-7867. PMID 13237064.
## External links[edit]
Classification
D
* ICD-10: Q77.8
* OMIM: 112350
* MeSH: C537082
External resources
* Orphanet: 3344
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Weismann-Netter–Stuhl syndrome | c1862172 | 2,142 | wikipedia | https://en.wikipedia.org/wiki/Weismann-Netter%E2%80%93Stuhl_syndrome | 2021-01-18T19:05:33 | {"mesh": ["C537082"], "umls": ["C1862172"], "orphanet": ["3344"], "wikidata": ["Q25339233"]} |
Beat deafness is a form of congenital amusia characterized by a person's inability to distinguish musical rhythm or move in time to it.[1]
## Contents
* 1 Characteristics
* 2 Rarity
* 3 Neural basis
* 4 Comparison to tone deafness
* 5 Beat perception in animals
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Characteristics[edit]
Generally, humans have the ability to hear musical beat and rhythm beginning in infancy.[2] Some people, however, are unable to identify beat and rhythm of music, suffering from what is known as beat deafness. Beat deafness is a newly discovered form of congenital amusia, in which people lack the ability to identify or “hear” the beat in a piece of music.[3] Unlike most hearing impairments in which an individual is unable to hear any sort of sound stimuli, those with beat deafness are generally able to hear normally, but unable to identify beat and rhythm in music. Those with beat deafness are also unable to dance in step to any type of music. Even people who do not dance well can at least coordinate their movements to the song they are listening to, because they can easily keep time to the beat.[3]
## Rarity[edit]
The first reported case of beat deafness was of a Canadian graduate student, whom researchers have identified as “Mathieu”. Phillips-Silver et al. (2011) examined the human ability to recognize musical beat in a sample of individuals who had had no previous musical training in their lives. The researchers presented a series of songs from different genres and the participants were instructed to simply bounce up and down to the beat of the music. Results indicated that all participants except for Mathieu were able to move in sync with the beat of the music. The researchers also presented video clips which showed a person dancing to music. Mathieu could not identify when the person was or was not dancing in time to the music.[3] Other participants demonstrated no problem with this task.
## Neural basis[edit]
When sound waves reach the ears, the energy they contain is converted into electrical signals, which are sent via the auditory nerves to the brain. Sound processing begins when these electrical signals reach the primary auditory receiving area in the core part of the temporal lobe.[4] Signals then travel to the area surrounding the core, known as the belt area, and are then transmitted to the parabelt area, which is located next to the belt. Simple sounds such as pure tones are able to activate the core area of the brain, but both the belt and parabelt areas are activated by only complex sounds, such as those found in speech and music.[4] The auditory cortex in the left hemisphere of the brain is responsible for processing beat and rhythm in music. The right auditory cortex is primarily used in distinguishing between different harmonics, which are simple pure tones that combine to create complex tones.[5]
Phillips-Silver et al. (2011) propose that beat deafness is the result of neurological problems in the areas of the brain that are used for recognizing musical beat, rhythm, and time. The main area responsible for processing musical rhythm is the left auditory cortex,[5] however other areas are most likely involved as well. According to the hypothesis of Phillips-Silver and coworkers, it should therefore be functional abnormalities in the left auditory cortex that cause beat deafness.[6]
Other areas of Mathieu's brain appeared to be functioning normally, including the areas responsible for hearing in general and for motor control, which is used in performing the moves in dancing.[3] Mathieu's deficiencies are therefore not caused by the inability to hear efficiently or control the movement of his body while dancing. Beat deafness has also not been shown to affect other areas of cognitive function such as language, which does not involve any sort of underlying beat or sporadic rhythm changes that are associated with music.[3] Given the normal functioning of Mathieu's brain, the hypothesis about the beat perception deficit occurring in the brain area for rhythm processing in particular is most likely correct.
Beat deafness is however, a very recent discovery and further research is necessary in gaining complete understanding of the phenomenon and its underlying brain processes.[6] In 2016 a study was published that examined the neural correlates of beat perception in two beat-deaf individuals, Mathieu and Marjorie, and a group of control participants. It provided partial support for abnormalities in later cognitive stages of beat processing, reflected in an unreliable P3b component exhibited by Mathieu—but not Marjorie—compared to control participants.[7]
## Comparison to tone deafness[edit]
Tone deafness is characterized by the inability to discriminate between different pitches, which are directly related to the frequencies of sound waves.[8] Tone deafness is a related, but distinct disorder from beat deafness. People with tone deafness can recognize beat and can move in time to music, but they cannot perceive pitch. People with beat deafness on the other hand, can recognize and distinguish between different tones as well as the average person and can usually sing in tune, so musical pitch is not the issue.[3] Different areas of the brain in the auditory cortex are involved in the perception of musical pitch and melody, and researchers theorize that tone deafness can potentially be from any of these sections.[8] Both beat deafness and tone deafness are derived from these same areas within the brain.
## Beat perception in animals[edit]
Sulphur-crested cockatoos can detect the beat in music.
A research team led by Aniruddh D. Patel of The Neurosciences Institute concluded that sulphur-crested cockatoos have the ability to perceive the beat in music and are able to rhythmically move to the tempo of the music as it changes. Only vocal learning species such as dolphins and parrots are hypothesized to have the ability to perceive beat. This is because beat perception and movement rely on complex vocal learning which require motor and auditory circuits in the brain. Vocal learning and beat perception do some overlapping in the parts of the brain that account auditory and motor areas. There is no significant evidence for beat perception in nonvocal learning species such as dogs and cats.[9] However, California sea lions, a nonvocal learning animal, have demonstrated the ability to perceive beats in music.[10]
## See also[edit]
* Music portal
* Amusia
* Tone deafness
* Musical aptitude
* Cognitive neuroscience of music
## References[edit]
1. ^ Bower, Bruce (26 March 2011). "A man lost in musical time". Science News. 179 (7): 9. Retrieved 21 March 2011.
2. ^ Stewart, L (2011). "Characterizing congenital amusia" (PDF). Quarterly Journal of Experimental Psychology. 64 (4): 625–638. doi:10.1080/17470218.2011.552730. PMID 21409740.
3. ^ a b c d e f Phillips-Silver, J.; Toiviainen, P.; Gosselin, N.; Piche, O.; Nozaradan, S.; Palmer, C.; Peretz, I. (2011). "Born to dance but beat deaf: a new form of congenital amusia". Neuropsychologia. 49 (5): 961–969. doi:10.1016/j.neuropsychologia.2011.02.002. PMID 21316375.
4. ^ a b Goldstein, E. B. (2010). Sensation and perception. California: Wadsworth, Cengage Learning
5. ^ a b Jourdain, R. (1997). Music, the brain, and ecstasy: How music captures our imagination. New York: William Morrow and Company
6. ^ a b Honing, H. (2011). A case of congenital beat deafness? Amsterdam: Music Matters | A blog on music cognition.
7. ^ Mathias, B; Lidji, P; Honing, H; Palmer, C; Peretz, I (2016). "Electrical Brain Responses to Beat Irregularities in Two Cases of Beat Deafness". Front Neurosci. 10: 40. doi:10.3389/fnins.2016.00040. PMC 4764698. PMID 26941591.
8. ^ a b Foxton, J.M.; Nandy, R.K.; Griffiths, T.D. (2006). "Rhythm deficits in 'tone deafness'". Brain and Cognition. 62 (1): 24–29. doi:10.1016/j.bandc.2006.03.005. PMID 16684584.
9. ^ Patel, A.D.; Iversen, J.R.; Bregman, M.R.; Schulz, I. (2009). "Studying synchronization to a musical beat in nonhuman animals" (PDF). Annals of the New York Academy of Sciences. 1169 (1): 459–469. CiteSeerX 10.1.1.589.2702. doi:10.1111/j.1749-6632.2009.04581.x. PMID 19673824.
10. ^ Cook, Peter; Rouse, Andrew; Wilson, Margaret; Reichmuth, Colleen (2013). "A California sea lion (Zalophus californianus) can keep the beat: Motor entrainment to rhythmic auditory stimuli in a non vocal mimic". Journal of Comparative Psychology. 127 (4): 412–427. doi:10.1037/a0032345. PMID 23544769. S2CID 34580113.
## Further reading[edit]
* Phillips-Silver, Jessica; Petri Toiviainen; Nathalie Gosselin; Olivier Piché; Sylvie Nozaradan; Caroline Palmer; Isabelle Peretz (11 February 2011). "Born to dance but beat deaf: A new form of congenital amusia" (PDF). Neuropsychologia. 49 (in press): 961–969. doi:10.1016/j.neuropsychologia.2011.02.002. PMID 21316375. Archived from the original (PDF) on 11 September 2011. Retrieved 21 March 2011.
* Shea, Christopher (7 March 2011). "The Man Who Couldn't Keep a Beat". The Wall Street Journal. Retrieved 21 March 2011.
* "De man zonder ritme". Labyrint (in Dutch). VPRO/NTR. Archived from the original on 24 March 2012. Retrieved 27 April 2012.
## External links[edit]
* CBC Radio interview (Quirks & Quarks) with Dr. Jessica Phillips-Silver
* v
* t
* e
Music psychology
Areas
* Biomusicology
* Cognitive musicology
* Cognitive neuroscience of music
* Culture in music cognition
* Evolutionary musicology
* Psychoacoustics
Topics
* Absolute pitch
* Auditory illusion
* Auditory imagery
* Background music
* Consonance and dissonance
* Deutsch's scale illusion
* Earworm
* Embodied music cognition
* Entrainment
* Exercise and music
* Eye movement in music reading
* Franssen effect
* Generative theory of tonal music
* Glissando illusion
* Hedonic music consumption model
* Illusory continuity of tones
* Levitin effect
* Lipps–Meyer law
* Melodic expectation
* Melodic fission
* Mozart effect
* Music and emotion
* Music and movement
* Music in psychological operations
* Music preference
* Music-related memory
* Musical gesture
* Musical semantics
* Musical syntax
* Octave illusion
* Relative pitch
* Sharawadji effect
* Shepard tone
* Speech-to-song illusion
* Temporal dynamics of music and language
* Tonal memory
* Tritone paradox
Disorders
* Amusia
* Auditory arrhythmia
* Beat deafness
* Musical hallucinations
* Musician's dystonia
* Music-specific disorders
* Tone deafness
Related fields
* Aesthetics of music
* Bioacoustics
* Ethnomusicology
* Hearing
* Melodic intonation therapy
* Music education
* Music therapy
* Musical acoustics
* Musicology
* Neurologic music therapy
* Neuronal encoding of sound
* Performance science
* Philosophy of music
* Psychoanalysis and music
* Sociomusicology
* Systematic musicology
* Zoomusicology
Researchers
* Jamshed Bharucha
* Lola Cuddy
* Robert Cutietta
* Jane W. Davidson
* Irène Deliège
* Diana Deutsch
* Tuomas Eerola
* Henkjan Honing
* David Huron
* Nina Kraus
* Carol L. Krumhansl
* Fred Lerdahl
* Daniel Levitin
* Leonard B. Meyer
* Max Friedrich Meyer
* James Mursell
* Richard Parncutt
* Oliver Sacks
* Carl Seashore
* Max Schoen
* Roger Shepard
* John Sloboda
* Carl Stumpf
* William Forde Thompson
* Sandra Trehub
Books and journals
* Music Perception
* Musicae Scientiae (journal)
* Musicophilia
* Music, Thought, and Feeling
* Psychology of Music (journal)
* The World in Six Songs
* This Is Your Brain on Music
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Beat deafness | None | 2,143 | wikipedia | https://en.wikipedia.org/wiki/Beat_deafness | 2021-01-18T18:52:17 | {"wikidata": ["Q4876973"]} |
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | c1843075 | 2,144 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100046 | 2021-01-23T17:25:58 | {"gard": ["9207"], "mesh": ["C564333"], "omim": ["607791"], "umls": ["C1843075"], "icd-10": ["G60.0"], "synonyms": ["CMTDID"]} |
Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Friedreich ataxia | c0016719 | 2,145 | gard | https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia | 2021-01-18T18:00:25 | {"mesh": ["D005621"], "omim": ["229300"], "orphanet": ["95"], "synonyms": ["Friedreich's ataxia", "Spinocerebellar ataxia, Friedreich", "Hereditary spinal sclerosis", "Hereditary spinal ataxia", "FRDA"]} |
Aquarium granuloma
Other namesFish tank granuloma,[1] swimming pool granuloma[1]
SpecialtyDermatology
Aquarium granuloma is a skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.[1]:339[2]
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ a b c James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* ICD-10: A31.1 (ILDS A31.110)
External resources
* MedlinePlus: 001357
* v
* t
* e
Gram-positive bacterial infection: Actinobacteria
Actinomycineae
Actinomycetaceae
* Actinomyces israelii
* Actinomycosis
* Cutaneous actinomycosis
* Tropheryma whipplei
* Whipple's disease
* Arcanobacterium haemolyticum
* Arcanobacterium haemolyticum infection
* Actinomyces gerencseriae
Propionibacteriaceae
* Propionibacterium acnes
Corynebacterineae
Mycobacteriaceae
M. tuberculosis/
M. bovis
* Tuberculosis: Ghon focus/Ghon's complex
* Pott disease
* brain
* Meningitis
* Rich focus
* Tuberculous lymphadenitis
* Tuberculous cervical lymphadenitis
* cutaneous
* Scrofuloderma
* Erythema induratum
* Lupus vulgaris
* Prosector's wart
* Tuberculosis cutis orificialis
* Tuberculous cellulitis
* Tuberculous gumma
* Lichen scrofulosorum
* Tuberculid
* Papulonecrotic tuberculid
* Primary inoculation tuberculosis
* Miliary
* Tuberculous pericarditis
* Urogenital tuberculosis
* Multi-drug-resistant tuberculosis
* Extensively drug-resistant tuberculosis
M. leprae
* Leprosy: Tuberculoid leprosy
* Borderline tuberculoid leprosy
* Borderline leprosy
* Borderline lepromatous leprosy
* Lepromatous leprosy
* Histoid leprosy
Nontuberculous
R1:
* M. kansasii
* M. marinum
* Aquarium granuloma
R2:
* M. gordonae
R3:
* M. avium complex/Mycobacterium avium/Mycobacterium intracellulare/MAP
* MAI infection
* M. ulcerans
* Buruli ulcer
* M. haemophilum
R4/RG:
* M. fortuitum
* M. chelonae
* M. abscessus
Nocardiaceae
* Nocardia asteroides/Nocardia brasiliensis/Nocardia farcinica
* Nocardiosis
* Rhodococcus equi
Corynebacteriaceae
* Corynebacterium diphtheriae
* Diphtheria
* Corynebacterium minutissimum
* Erythrasma
* Corynebacterium jeikeium
* Group JK corynebacterium sepsis
Bifidobacteriaceae
* Gardnerella vaginalis
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
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* e
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Aquarium granuloma | c0275708 | 2,146 | wikipedia | https://en.wikipedia.org/wiki/Aquarium_granuloma | 2021-01-18T18:46:17 | {"gard": ["9712"], "mesh": ["C535526"], "umls": ["C0275708"], "icd-10": ["A31.1"], "wikidata": ["Q4782756"]} |
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Spondyloenchondrodysplasia | c0432222 | 2,147 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1855 | 2021-01-23T17:02:20 | {"gard": ["4978"], "mesh": ["C535782"], "omim": ["271550"], "umls": ["C0432222"], "icd-10": ["Q77.7"], "synonyms": ["SPENCD", "Spondyloenchondromatosis", "Spondylometaphyseal dysplasia with enchondromatous changes"]} |
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
## Epidemiology
The prevalence is estimated to be between 1/250,000- 1/333,300 worldwide.
## Clinical description
The age of onset is typically over 40 years old, although it may occur at any age. LEMS is characterized by the clinical triad of proximal muscle weakness, autonomic disturbance, and depressed tendon reflexes. Tumors, mostly SCLC (see this term), are present in fifty to sixty percent of LEMS patients. Cerebellar ataxia can occur, in which case it is almost always accompanied by SCLC.
## Etiology
Around 90% of LEMS patients have pathogenic antibodies against the presynaptic P/Q-type voltage-gate calcium channel (VGCC). Dysfunction or decrease in number of these channels inhibits release of acetylcholine from the presynaptic endplate, resulting in impaired neuromuscular transmission and muscle weakness.
## Diagnostic methods
In addition to the classical clinical triad (although all three features are not always present), the diagnosis of LEMS is based on the detection of VGCC antibodies by using radioimmunoprecipitation assays and/or typical abnormalities of the repetitive nerve stimulation (RNS) test: a low amplitude compound muscle action potential (CMAP), a decremental response to low rate stimulation, and an incremental response to high rate stimulation or after brief exercise (postexercise facilitation). Abnormal single fiber EMG (SFEMG) can confirm a disorder of the neuromuscular junction, but is non-specific.The diagnosis of LEMS almost invariably precedes the discovery of SCLC.
## Differential diagnosis
In 60% of LEMS patients, a different diagnosis was initially made such as myasthenia gravis (MG), inclusion body myositis, Guillain-Barré syndrome (GBS), amyotrophic lateral sclerosis (ALS) (see these terms), lumbar canal stenosis, early-phase Parkinson's disease and lower body parkinsonism.
## Management and treatment
There is no cure for LEMS and treatment is mainly symptomatic. This includes 3, 4-diaminopyridine phosphate (DAP) which is usually well tolerated and effective. In some patients, the combination of pyridostigmine with 3,4-DAP has been suggested to have an additional positive effect. If symptomatic treatment is insufficient, immunosuppressive therapy with prednisone, alone or in combination with azathioprine, can achieve long-term control of the disorder. Plasmapheresis and high dose administration of intravenous immunoglobulins (IVIGs) have a short effect. An effective treatment against any tumor present is mandatory, both to control the tumor and to improve the clinical symptoms of LEMS.
## Prognosis
In general, LEMS responds well to symptomatic and immunosuppressive treatments. However, LEMS can affect every day activities and quality of life of individual patients. Life expectancy depends on the presence of lung cancer. Without cancer, the life expectancy is considered normal. As SCLC (see this term) is a very aggressive cancer, prognosis of patients with LEMS and SCLC is often rather poor. Median survival is 17-24 months, although the amount of patients with long-standing remission or cured is approximately 20% (compared to <2% of patients with a SCLC without LEMS).
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Lambert-Eaton myasthenic syndrome | c0022972 | 2,148 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=43393 | 2021-01-23T18:24:43 | {"gard": ["6851"], "mesh": ["D015624"], "umls": ["C0022972"], "icd-10": ["G73.1"]} |
A Richter's hernia occurs when the antimesenteric wall of the intestine protrudes through a defect in the abdominal wall. This is distinct from other types of abdominal hernias in that only one intestinal wall protrudes through the defect, such that the lumen of the intestine is incompletely contained in the defect, while the rest remains in the peritoneal cavity. If such a herniation becomes necrotic and is subsequently reduced during hernia repair, perforation and peritonitis may result. A Richter's hernia can result in strangulation and necrosis in the absence of intestinal obstruction. It is a relatively rare but dangerous type of hernia.[1]
Richter's hernia have also been noted in laparoscopic port-sites, usually when the fascia is not closed for ports larger than 10mm. A high index of suspicion is required in the post operative period as this sinister problem can closely mimic more benign complications like port-site haematomas.[2][3]
Treatment is resection and anastomosis. Mortality increases with delay in surgical intervention.
## References[edit]
1. ^ Crabtree, TD. "General Surgery." Board Review Series, LWW&W, 2000, pp220
2. ^ Rammohan A, RM Naidu.Laparoscopic port site Richter's hernia – An important lesson learnt. Int J Surg Case Rep 2011, Volume 2, Issue 1, Pages 9-11.
3. ^ Rammohan, Ashwin; Naidu, R. M. (1 January 2011). "Laparoscopic port site Richter's hernia – An important lesson learnt". International Journal of Surgery Case Reports. 2 (1): 9–11. doi:10.1016/j.ijscr.2010.11.002. PMC 3199732. PMID 22096675.
* v
* t
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Diseases of the digestive system
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Peritoneal
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Richter's hernia | c0401055 | 2,149 | wikipedia | https://en.wikipedia.org/wiki/Richter%27s_hernia | 2021-01-18T18:36:58 | {"wikidata": ["Q7331090"]} |
Not to be confused with Pocari Sweat.
Picardy sweat
SpecialtyInfectious disease
## Contents
* 1 Origins, Transmission, and Symptoms of the Disease
* 2 André Chantemesse
* 3 Related Illnesses
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Origins, Transmission, and Symptoms of the Disease[edit]
The Picardy sweat was an infectious disease of unknown cause and it was the only disease that beared any resemblance to the English sweating sickness. The Picardy sweat is also known as the miliary fever, suette des Picards in French,[1] and picard'scher Schweiß, picard'sches Schweissfieber, or Frieselfieber in German.[2] It appeared in the northern French province of Picardy in 1718. The Picardy sweat was mainly confined to the northwest part of France, particularly in the provinces of Seine-et-Oise, Bas Rhin, and Oise.[3] Although the Picardy sweat began in Northern France, outbreaks also occurred in Germany, Belgium, Switzerland, Austria, and Italy. Between 1718 and 1874, 194 epidemics of the Picardy sweat were recorded.[4] The last extensive outbreak was in 1906, which a French commission attributed to fleas from field mice.[5] A subsequent case was diagnosed in 1918 in a soldier in Picardy.[6]
There were two types of the Picardy sweat, a benign form that was similar to nephropathia epidemica and a more severe form that resembled the English sweat. The disease was similar to the English sweat but differed in some symptoms and in its course and mortality rate. Additionally, the more severe type of Picardy sweat is believed to be more benign than the English sweating sickness. The rate of sickness was anywhere from 25% to 30% of the population and the mortality rate is estimated to have been between 0% and 20%.[7] Similar to the English sweat, the more severe Picardy sweat was characterized by intense sweating, but the symptoms were less fatal. Some of the symptoms were high fever, rash, and bleeding from the nose.[citation needed] Other symptoms include intense sweating, headaches, suffocation, precordial pain, anxiety, and "passion of the heart" or palpitations. Additionally a miliary rash followed by desquamation, or peeling of the skin, is a fresh feature that was brought on with this variant of the English sweating sickness would typically appear three to four days after infection.[8] Many victims died within two days.[9]
## André Chantemesse[edit]
The Picardy sweat occurred in limited epidemics, usually for a short duration during the summer months. Additionally, this disease spread predominately in rural villages and communities. André Chantemesse, a French bacteriologist, presented a detailed epidemiological account of the outbreak. Chantemesse argued against human-to-human transmission by discussing specific visits of ill individuals in visits of ill individuals to nearby villages. Additionally, he believed that those who slept on or near the ground were more likely to be infected. Chantemesse called the Picardy sweat, "the virus that came from the fields." Although symptomatology did not match, he believed that this disease was transmitted through flea bites and predicted that the virus came from rodents invading homes after flooding.[10]
## Related Illnesses[edit]
The English sweating sickness, also known as Sudor Anglicus, caused five major epidemics between 1485-1551. The location, duration, and violence differed with each respective outbreak. This sickness, named after the devastation it induced in England, had a mortality rate of 30% to 50%. A Noteworthy mention is the English sweating sickness did not attack the younger or the older individuals, but rather the middle-aged individuals in the population. Additionally, these individuals were typically active, wealthy, and white males.[7] The Picardy sweat appeared over 150 years later, in 1718, in France. This outbreak was considered to be much less fatal in comparison to the English sweating sickness. Although there is much speculation about the similarities between the Picardy sweat and the English sweating sickness, it is unknown rather or not the two were derived from one another. Given the two sicknesses have different geographical regions and over a century of time between outbreaks, many speculate that the two are not related. However, other speculations say that both could be a form of what we know today as hantavirus infections. A hantavirus infection is one that is spread mainly through rodents, insectivores, and bats and cause varied disease syndromes. Each type of hantavirus is carried by a specific host species and phylogenetic analysis revealed that the relationships between hantaviruses generally parallel the phylogeny of their rodent hosts.[11]
## Treatment[edit]
The Picardy sweat disease was previously believed to arise from a leaven or a poison that would directly contaminate the blood. Due to this, physicians during this time suggested expelling the disease through sudorifics, cordials, ptisans, and heavy bedclothes.[7] Sudorifics were suggested because they are medicines that induce sweating. Sweating would then allow the disease-causing agent to have the ability to exit the blood via the sweat glands. Heavy bedclothes were proposed because they would also induce sweating, thus resulting in the expulsion of the disease while the infected patient was asleep. Drinking cordials was presented to infected individuals because cordials were believed to sterilize the body and blood due to the low alcohol content found in cordials. Additionally, ptisans, or warm teas, were recommended in hopes that the herbs within the ptisan would have healing agents that would aid in the expulsion of the disease.
Around 1773, the treatments for the Picardy sweat disease changed when other means of curing the disease were introduced. Venesection procedures, mild lukewarm drinks, small doses of hypnotic medicine, and withdrawing practices on the hands and feet were suggested as more efficient ways of treating the Picardy sweat disease.[7] Venesection procedures, or more commonly known today as phlebotomy procedures, would directly remove blood from the body and essentially the disease along with it. The blood is drawn through a small incision or a puncture of the skin. Venesection would have been most efficient in the early stages of infection before the disease has had the opportunity to spread throughout the body. Mild lukewarm drinks were opposite of the warm ptisans that were suggested prior to 1773. Hypnotic medicines were suggested to aid in sleeping and provide some relief during the night. Withdrawing practices on the hands and feet were performed to generate rashes, which usually soothed the pains of the disease. An example of how they did this includes bathing the hands and feet in mustard water which irritates the area, therefore, drawing blood and disease to those regions of the body.[7] Essentially, the goal of this was to intensify pain in particular regions of the body by inducing rashes to make the pain caused by Picardy sweat disease feel less extreme. Counter-irritation was important for providing relief and was especially necessary when the lungs or head became congested.
Another treatment for the Picardy sweat disease during this time was quinine sulfate. Physicians would prescribe doses of 3 grams or less of quinine sulfate to affected patients.[12] Quinine sulfate was later used as a treatment against a disease caused by parasites called malaria. This disease typically enters the body via the bloodstream due to mosquito bites from parasites carrying the malaria disease. This disease is similar to that of the Picardy sweat disease because both pathogens enter the human body by infiltrating the bloodstream. Quinine sulfate was a suggested form of treatment because it was assumed to expel the disease through the drug's side effects. Quinine sulfate can be responsible for inducing sweating and causing easy bleeding.[13] These side effects would fundamentally expel the disease from the human body.
## See also[edit]
* Sweating sickness
## References[edit]
1. ^ Michael W. Devereaux: The English Sweating Sickness. In: Southern Medical Journal, November 1968, Volume 61, Issue 11, ppg 1191-1194 (online)
2. ^ Justus F. C. Hecker: Der englische Schweiss: ein ärztlicher Beitrag zur Geschichte des fünfzehnten und sechszehnten Jahrhunderts. 1834, Seite 199 (online)
3. ^ Roberts, L. (11 August 1945). "Sweating Sickness and Picardy Sweat". BMJ. 2 (4414): 196–196. doi:10.1136/bmj.2.4414.196. ISSN 0959-8138.
4. ^ Roberts, Llywelyn: "Sweating Sickness and Picardy Sweat" In: British Medical Journal, 11 August 1945; 2(4414): 196
5. ^ Tidy, Henry, "Sweating Sickness and Picardy Sweat", British Medical Journal, Vol.2(4110), pp.63-64, 14 July 1945
6. ^ Foster, Michael. Contributions to Medical and Biological Research, p. 52, Hoeber, New York, 1919
7. ^ a b c d e Heyman, Paul; Simons, Leopold; Cochez, Christel (January 2014). "Were the English Sweating Sickness and the Picardy Sweat Caused by Hantaviruses?". Viruses. 6 (1): 151–171. doi:10.3390/v6010151. Cite error: The named reference ":0" was defined multiple times with different content (see the help page).
8. ^ Roberts, Llywelyn (11 August 1945). "Sweating Sickness And Picardy Sweat" Check `|url=` value (help). The British Medical Journal. 2: 196 – via JSTOR.
9. ^ George Child Kohn: Encyclopedia of plague and pestilence: from ancient times to the present. 2008, Seite 309 (online)
10. ^ Heyman, Paul; Simons, Leopold; Cochez, Christel (January 2014). "Were the English Sweating Sickness and the Picardy Sweat Caused by Hantaviruses?". Viruses. 6 (1): 151–171. doi:10.3390/v6010151.
11. ^ Heyman, Paul; Simons, Leopold; Cochez, Christel (7 January 2014). "Were the English Sweating Sickness and the Picardy Sweat Caused by Hantaviruses?". Viruses. 6 (1): 151–171. doi:10.3390/v6010151. ISSN 1999-4915. PMC 3917436. PMID 24402305.
12. ^ Heyman, Paul; Simons, Leopold; Cochez, Christel (January 2014). "Were the English Sweating Sickness and the Picardy Sweat Caused by Hantaviruses?". Viruses. 6 (1): 151–171. doi:10.3390/v6010151. PMC 3917436. PMID 24402305.
13. ^ "Drugs & Medications". www.webmd.com. Retrieved 7 December 2020.
## External links[edit]
Classification
D
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Picardy sweat | None | 2,150 | wikipedia | https://en.wikipedia.org/wiki/Picardy_sweat | 2021-01-18T18:35:28 | {"wikidata": ["Q119660"]} |
By studying hybrid clones derived from human lymphoblastoid cells and mouse cells, Yamamoto et al. (1978) found that Epstein-Barr viral DNA and E-B virus-determined nuclear antigen were associated with the presence of chromosome 14. The observation of translocation from chromosome 8 to the long arm of chromosome 14 in lymphomas including Burkitt tumors (Zech et al., 1976) and the chromosome 14 changes of ataxia-telangiectasia (208900) are possibly related. Klein (1981) concluded that there is no evidence whatever that EBV has any integrated copies in the genome. See the work of Allderdice et al. (1973), Spira et al. (1977), and Steplewski et al. (1978). Henderson et al. (1983) found integration at 1p35 in a Burkitt cell line of African origin and at 4q25 in a cell line derived from neonatal lymphocytes infected with EBV. Petit (1984) presented evidence that integration may occur in yet other chromosomes, suggesting that integration is random. Teo and Griffin (1987) used biotin-labeled EBV-specific probes to detect viral genomes by in situ hybridization. In a cloned cell line, EBV DNA was localized to chromosome 4, but in a noncloned line, the location of integrated viral DNA was essentially random.
By a highly sensitive fluorescence method for localization of single copy sequences in interphase nuclei and metaphase chromosomes by nonisotopic in situ hybridization, Lawrence et al. (1988) demonstrated integration of 2 EBV genomes at band 1p35 in a lymphoma cell line. The results indicated that the viral genomes are in opposite orientations and separated by roughly 340 kb of cellular DNA. (The 1p35 site was designated as EBVS1 by HGM11.)
EBV is stably maintained and partially expressed in Burkitt lymphoma and in nasopharyngeal carcinoma. Latently infected cells usually contain multiple episomal copies of nonintegrated viral DNA. In 2 Burkitt cell lines, Henderson et al. (1983) showed that EBV was also integrated into a chromosome, but different chromosomes--nos. 1 and 4. The persistence of EBV in latently infected cells over years of active cell replication may be explained by integration. It is noteworthy that the site of integration is removed from those involved in the translocation. 'The simplest model to explain EBV association with Burkitt tumors is that EBV induces B-cell proliferation and thereby provides enhanced opportunity for chromosomal translocation and malignant degeneration' (Henderson et al., 1983).
Fonatsch et al. (1992) suggested that the expression of CD30 (153243), which is located on 1p36, might be regulated by EBV inserted at EBVS1.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| EPSTEIN-BARR VIRUS INSERTION SITE 1 | None | 2,151 | omim | https://www.omim.org/entry/132850 | 2019-09-22T16:41:30 | {"omim": ["132850"], "synonyms": ["Alternative titles", "EPSTEIN-BARR VIRUS INTEGRATION SITE"]} |
Osteolytic lesion at the bottom of the radius, diagnosed by a darker section that indicates a loss of bone density.
An osteolytic lesion (from the Greek words for "bone" (ὀστέον), and "to unbind" (λύειν)) is a softened section of a patient's bone formed as a symptom of specific diseases, including breast cancer and multiple myeloma. This softened area appears as a hole on X-ray scans due to decreased bone density, although many other diseases are associated with this symptom.[1] Osteolytic lesions can cause pain, increased risk of bone fracture, and spinal cord compression.[2] These lesions can be treated using biophosphonates or radiation, though new solutions are being tested in clinical trials.
## Contents
* 1 Cellular causes
* 2 Potential treatments
* 2.1 Biophosphonates
* 2.2 Radiation
* 3 References
## Cellular causes[edit]
Bone lesions are caused by an imbalance of regulatory factors, characterized by an increased depletion and resorption of old bone tissue and a decrease in bone rebuilding, known as bone remodeling. This imbalance is due to a flooding of regulatory factors released by specific tumors, thus overwhelming the tissue repair system and resulting in these lesions. The over-activity of osteoclasts can also cause hypercalcemia, which can cause damage to the kidneys and requires additional medication and monitoring.[1]
In multiple myeloma, an increased number of myeloma cells block osteoblasts from creating new bone, while these cancerous cells also release factors that cause an upregulation on osteoclasts, causing an increasing in bone tissue resorption and an overall breakdown of bone integrity. This breakdown often begins in the bone marrow near tumor sites and spreads outward to the surface of the implicated bone.[1]
The most common cancers that metastasize to form osteolytic lesions are thyroid, lung, kidney, gastrointestinal, malignant melanoma and breast, though any cancer can cause bone lesions. Lesions are most often found in larger bones, such as the skull, pelvis, radius, and femur.[3][4]
## Potential treatments[edit]
### Biophosphonates[edit]
Biophosphonates are drugs that are used to prevent bone mass loss and are often used to treat osteolytic lesions. Zoledronic acid (Reclast) is a specific drug given to cancer patients to prevent the worsening of bone lesions and has been reported to have anti-tumor effects as well.[5] Zoledronic acid has been clinically tested in conjunction with calcium and vitamin D to encourage bone health.[6] Denosumab, a monoclonal antibody treatment RANKl inhibitor that targets the osteocyte apoptosis regualtory RANKL gene, is also prescribed to prevent bone metastases and bone lesions.[7][8] Most biophosphonates are co-prescribed with disease-specific treatments, such as chemotherapy or radiation for cancer patients.
### Radiation[edit]
Bone lesions in multiple myeloma patients may be treated with low-dose radiation therapy in order to reduce pain and other symptoms.[7] Used in combination with immunochemotherapy, radiation therapy can be used to treat certain cancers when aimed at areas of bone lesion and softened bone.[9]
## References[edit]
1. ^ a b c "Myeloma Bone Lesions - Lytic Bone Lesions - Bone Lesion Myeloma". Multiple Myeloma Research Foundation. Retrieved 2017-03-14.
2. ^ Matsumoto, Toshio; Kido, Shinsuke; Inoue, Daisuke; Oshima, Takashi; Abe, Masahiro (2004). "Myeloma-Bone Interaction for the Development of Myeloma Bone Disease". Journal of Bone and Mineral Research. 19 (9): 1559–1600 – via Wiley.
3. ^ "Round 2 : Treatment of Metastatic Bone Disease • Arthritis Information". Arthritis Information. Archived from the original on 2020-04-04. Retrieved 2017-04-10.
4. ^ Kumar, Vinay (2014). Pathologic Basis of Disease. p. 1207. ISBN 978-1-4557-2613-4.
5. ^ Kawai, Sadayuki; Yamaura, Gengo; Yasuda, Katsuhiro; Suzuki, Takao (2012-05-10). "Remarkable Regression of an Osteolytic Lesion of Large Cell Lung Cancer Treated with Zoledronic Acid: A Case Report". Case Reports in Oncology. 5 (2): 233–237. doi:10.1159/000339125. ISSN 1662-6575. PMC 3369252. PMID 22679429.
6. ^ "Therapy With Zoledronic Acid in Patients With Multiple Myeloma Stage I - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. Retrieved 2017-04-10.
7. ^ a b "Multiple Myeloma Bone Disease Treatment - Bone Disease Treatments". Multiple Myeloma Research Foundation. Retrieved 2017-03-14.
8. ^ "Denosumab Compared to Zoledronic Acid in the Treatment of Bone Disease in Subjects With Multiple Myeloma - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. Retrieved 2017-03-14.
9. ^ Ahmad, Irfan; Chufal, Kundan Singh; Goyal, Nidhi; Bhatt, Chandi Prasad (2017-03-01). "Case of polyostotic primary bone lymphoma successfully treated with immunochemotherapy and consolidation radiotherapy". BMJ Case Reports. 2017: bcr2016218832. doi:10.1136/bcr-2016-218832. ISSN 1757-790X. PMC 5353460. PMID 28249886.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Osteolytic lesion | c0302313 | 2,152 | wikipedia | https://en.wikipedia.org/wiki/Osteolytic_lesion | 2021-01-18T18:28:47 | {"umls": ["C0302846"], "wikidata": ["Q30314345"]} |
A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Neurofibroma | c0027830 | 2,153 | gard | https://rarediseases.info.nih.gov/diseases/7191/neurofibroma | 2021-01-18T17:58:44 | {"mesh": ["D009455"], "umls": ["C0027830"], "orphanet": ["252183 "], "synonyms": []} |
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).
## Epidemiology
It is a rare disease with an estimated prevalence of between 1/100,000 and 1/1,000,000.
## Clinical description
FD can involve single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and early development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may occur including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS.
## Etiology
The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development.
## Diagnostic methods
Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD but biopsy of FD lesions can be used for confirmation. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available.
## Differential diagnosis
Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm (see these terms).
## Genetic counseling
Although MAS in not hereditary, genetic counseling should be offered.
## Management and treatment
Treatment is dictated by the tissues affected, and the extent to which they are affected. Some forms of surgical interventions may be indicated for treatment of craniofacial and skeletal abnormalities associated with FD (progressive visual disturbance, severe pain, severe disfigurement), as well as in the management of MAS-associated endocrinopathies and malignancies. Bisphosphonates are frequently used in the treatment of FD. Strengthening exercises are recommended to help maintain the musculature around the FD bone and minimize the risk of fracture. Treatment of all endocrinopathies is required.
## Prognosis
MAS is rarely associated with malignancy. Malignant transformation of FD lesions occurs in probably less than 1% MAS patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| McCune-Albright syndrome | c0242292 | 2,154 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=562 | 2021-01-23T18:04:44 | {"gard": ["6995"], "mesh": ["D005359"], "omim": ["174800"], "umls": ["C0242292"], "icd-10": ["Q78.1"], "synonyms": ["Gonadotropin-independent female-limited sexual precocity"]} |
Empty sella syndrome
Other namesPituitary - empty sella syndrome[1]
MRI of Empty Sella
SpecialtyEndocrinology
SymptomsCryptorchidism
CausesArachnoid presses down on gland (another possibility is a Tumor, Radiation therapy)[1]
Diagnostic methodMRI, CT scan[1]
MedicationManage abnormal hormone levels[1]
Empty sella syndrome is the condition when the pituitary gland shrinks or becomes flattened, filling the sella turcica with cerebrospinal fluid instead of the normal pituitary.[2] It can be discovered as part of the diagnostic workup of pituitary disorders, or as an incidental finding when imaging the brain.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Mechanism
* 4 Diagnosis
* 4.1 Classification
* 4.2 Differential diagnosis
* 5 Treatment
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Patent ductus arteriosus
If there are symptoms, people with empty sella syndrome can have headaches and vision loss. Additional symptoms would be associated with hypopituitarism.[3][4] Additional symptoms are as follows:[citation needed]
* Abnormality (middle ear ossicles)
* Cryptorchidism
* Dolichocephaly
* Arnold-Chiari type I malformation
* Meningocele
* Patent ductus arteriosus
* Muscular hypotonia
* Platybasia
## Cause[edit]
Pituitary gland
The cause of this condition is divided into primary and secondary, as follows:
* The cause of this condition in terms of secondary empty sella syndrome happens when a tumor or surgery damages the gland, this is an acquired manner of the condition.[1]
* ~70% of patients with Idiopathic intracranial hypertension will have empty sella on MRI
* The cause of primary empty sella syndrome is a congenital defect (diaphragma sellae)[5]
## Mechanism[edit]
The normal mechanism of the pituitary gland sees that it controls the hormonal system, which therefore has an effect on growth, sexual development, and adrenocortical function. The gland is divided into anterior and posterior.[6][7]
Its pathophysiology is such that individuals affected with the condition can have cerebrospinal fluid build-up, which in turn causes intracranial pressure leading to headaches for the individual.[8]
## Diagnosis[edit]
Empty sella in MRI
The diagnosis of empty sella syndrome, done via examination (and test), may be linked to early onset of puberty, growth hormone deficiency, or pituitary gland dysfunction (at an early age).[2] Additionally there is:
* CT scan [5]
* MRI scans [5]
### Classification[edit]
There are two types of empty sella syndrome: primary and secondary.
* Primary empty sella syndrome occurs when a small anatomical defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten out along the interior walls of the sella turcica cavity.[3] Primary empty sella syndrome is associated with obesity and increase in intracranial pressure in women.[9] In most cases, especially in people with primary empty sella syndrome, there are no symptoms and it does not affect life expectancy or health. Some researchers have estimated that less than 1% of affected people ever develop symptoms of the condition.[10]
* Secondary empty sella syndrome is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy.[3] Individuals with secondary empty sella syndrome due to destruction of the pituitary gland have symptoms that reflect the loss of pituitary functions, such as intolerance to stress and infection.[medical citation needed]
### Differential diagnosis[edit]
The major differential to consider in empty sella syndrome is intracranial hypertension, of both unknown and secondary causes, and an epidermoid cyst, which can mimic cerebrospinal fluid due to its low density on CT scans, although MRI can usually distinguish the latter diagnosis.[11]
## Treatment[edit]
In terms of management, unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and thus supportive; however, surgery may be needed in some cases.[2]
## References[edit]
1. ^ a b c d e f "Empty sella syndrome". medlineplus.gov. MedlinePlus Medical Encyclopedia. Retrieved 6 March 2017.
2. ^ a b c "Empty Sella Syndrome Information Page". www.ninds.nih.gov. National Institute of Neurological Disorders and Stroke. Retrieved 2017-03-05.
3. ^ a b c "Empty sella syndrome". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center. Retrieved 2017-03-05.
4. ^ Goldman, Lee; Schafer, Andrew I. (2012). Goldman's Cecil Medicine (24 ed.). Elsevier Health Sciences. p. 1256. ISBN 978-1437716047. Retrieved 8 March 2017.
5. ^ a b c Disorders, National Organization for Rare (2003). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. p. 530. ISBN 9780781730631. Retrieved 11 March 2017.
6. ^ pmhdev (2015-01-07). "How does the pituitary gland work?". PubMed Health.
7. ^ Nussey, Stephen; Whitehead, Saffron (2001-01-01). The pituitary gland. BIOS Scientific Publishers.
8. ^ Horton, Arthur MacNeill (2012-01-01). The Encyclopedia of Neuropsychological Disorders. Springer Publishing Company. p. 282. ISBN 9780826198549.
9. ^ Fouad, Wael (2011-06-01). "Review of empty sella syndrome and its surgical management". Alexandria Journal of Medicine. 47 (2): 139–147. doi:10.1016/j.ajme.2011.06.005.
10. ^ "Empty sella syndrome: Prognosis". rarediseases. Genetic and Rare Diseases Information Center. Retrieved 17 April 2018.
11. ^ González-Tortosa, J (2009). "Primary empty sella: Symptoms, physiopathology, diagnosis and treatment" (PDF). Neurocirugia (Asturias, Spain). 20 (2): 132–51. doi:10.1016/s1130-1473(09)70180-0. PMID 19448958.
## Further reading[edit]
* Disorders, National Organization for Rare (2003). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 9780781730631. Retrieved 8 March 2017.
* Becker, Kenneth L. (2001-01-01). Principles and Practice of Endocrinology and Metabolism. Lippincott Williams & Wilkins. ISBN 9780781717502.
## External links[edit]
Classification
D
* ICD-10: E23.6
* ICD-9-CM: 253.8
* MeSH: D004652
* DiseasesDB: 31523
* SNOMED CT: 237722004
External resources
* MedlinePlus: 000349
* Orphanet: 91354
Scholia has a topic profile for Empty sella syndrome.
* v
* t
* e
Pituitary disease
Hyperpituitarism
Anterior
* Acromegaly
* Hyperprolactinaemia
* Pituitary ACTH hypersecretion
Posterior
* SIADH
General
* Nelson's syndrome
* Hypophysitis
Hypopituitarism
Anterior
* Kallmann syndrome
* Growth hormone deficiency
* Hypoprolactinemia
* ACTH deficiency/Secondary adrenal insufficiency
* GnRH insensitivity
* FSH insensitivity
* LH/hCG insensitivity
Posterior
Neurogenic diabetes insipidus
General
* Empty sella syndrome
* Pituitary apoplexy
* Sheehan's syndrome
* Lymphocytic hypophysitis
* Pituitary adenoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Empty sella syndrome | c0014008 | 2,155 | wikipedia | https://en.wikipedia.org/wiki/Empty_sella_syndrome | 2021-01-18T18:38:55 | {"gard": ["6331"], "mesh": ["D004652"], "umls": ["C0014008"], "icd-9": ["253.8"], "wikidata": ["Q1339466"]} |
See also: mitral regurgitation and tricuspid insufficiency
Aortic insufficiency
Other namesAortic regurgitation (AR)
Illustration of aortic regurgitation
SpecialtyCardiology
SymptomsDyspnea on exertion, Orthopnea[1]
CausesAortic root dilation[1]
Diagnostic methodTransthoracic echocardiography[2]
TreatmentVasodilators(depends on the individuals condition, maybe surgery Aortic valve replacement)[1][3]
Aortic insufficiency (AI), also known as aortic regurgitation (AR), is the leaking of the aortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. As a consequence, the cardiac muscle is forced to work harder than normal.[4]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Physical examination
* 4.2 Classification
* 5 Treatment
* 5.1 Medical treatment
* 5.2 Surgery
* 6 Prognosis
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
Symptoms of aortic insufficiency are similar to those of heart failure and include the following:[1]
* Dyspnea on exertion
* Orthopnea
* Paroxysmal nocturnal dyspnea
* Palpitations
* Angina pectoris
* Cyanosis (in acute cases)
## Causes[edit]
In terms of the cause of aortic insufficiency, is often due to the aortic root dilation (annuloaortic ectasia), which is idiopathic in over 80% of cases, but otherwise may result from aging, syphilitic aortitis, osteogenesis imperfecta, aortic dissection, Behçet's disease, reactive arthritis and systemic hypertension.[1] Aortic root dilation is the most common cause of aortic insufficiency in developed countries.[5] Additionally, aortic insufficiency has been linked to the use of some medications, specifically medications containing fenfluramine or dexfenfluramine isomers and dopamine agonists.[6][7] Other potential causes that affect the valve directly include Marfan syndrome, Ehlers–Danlos syndrome, ankylosing spondylitis, and systemic lupus erythematosus. In acute cases of aortic insufficiency, the main causes are infective endocarditis, aortic dissection or trauma.[1]
## Pathophysiology[edit]
Micrograph of myxomatous degeneration – a cause of aortic insufficiency.
The mechanism of aortic insufficiency (AI), comprises the pressure in the left ventricle falling below the pressure in the aorta, the aortic valve is not able to completely close. This causes a leaking of blood from the aorta into the left ventricle. This means that some of the blood that was already ejected from the heart is regurgitating back into the heart. The percentage of blood that regurgitates back through the aortic valve due to AI is known as the regurgitant fraction. This regurgitant flow causes a decrease in the diastolic blood pressure in the aorta, and therefore an increase in the pulse pressure. Since some of the blood that is ejected during systole regurgitates back into the left ventricle during diastole, there is decreased effective forward flow in AI.[8][9]
While diastolic blood pressure is diminished and the pulse pressure widens, systolic blood pressure generally remains normal or can even be slightly elevated, this is because sympathetic nervous system and the renin-angiotensin-aldosterone axis of the kidneys compensate for the decreased cardiac output.[10] Catecholamines will increase the heart rate and increase the strength of ventricular contraction, directly increasing cardiac output. Catecholamines will also cause peripheral vasoconstriction, which causes increased systemic vascular resistance and ensures that organs are adequately perfused.[11] Renin, a proteolytic enzyme, cleaves angiotensinogen to angiotensin I, which is converted to angiotensin II.[12] In the case of chronic aortic insufficiency with resultant cardiac remodeling, heart failure will develop, and it is possible to see systolic pressures diminish.[13] Aortic insufficiency causes both volume overload (elevated preload) and pressure overload (elevated afterload) of the heart.[14]
The volume overload, due to elevated pulse pressure and the systemic effects of neuroendocrine hormones causes left ventricular hypertrophy (LVH).[9] There is both concentric hypertrophy and eccentric hypertrophy in AI. The concentric hypertrophy is due to the increased left ventricular pressure overload associated with AI, while the eccentric hypertrophy is due to volume overload caused by the regurgitant fraction.[15]
Physiologically, in individuals with a normally functioning aortic valve, the valve is only open when the pressure in the left ventricle is higher than the pressure in the aorta. This allows the blood to be ejected from the left ventricle into the aorta during ventricular systole. The amount of blood that is ejected by the heart is known as the stroke volume. Under normal conditions, >50% of the blood in a filled left ventricle is ejected into the aorta to be used by the body. After ventricular systole, the pressure in the left ventricle decreases as it relaxes and begins to fill up with blood from the left atrium. This relaxation of the left ventricle (early ventricular diastole) causes a fall in its pressure. When the pressure in the left ventricle falls below the pressure in the aorta, the aortic valve will close, preventing blood in the aorta from going back into the left ventricle.[16][17][18]
## Diagnosis[edit]
Play media
Ultrasound showing aortic insufficiency and vegetations on the aortic valve.[19]
In terms of the diagnosis of aortic regurgitation a common test for the evaluation of the severity is transthoracic echocardiography, which can provide two-dimensional views of the regurgitant jet, allow measurement of velocity, and estimate jet volume.[2] The findings in severe aortic regurgitation, based on the 2012 American College of Cardiology/American Heart Association guidelines include:[20][21]
* An AI color jet width > 65 % of the left ventricular outflow tract diameter
* Doppler vena contracta width > 0.6 cm
* The pressure half-time of the regurgitant jet is < 200 ms
* Early termination of the mitral inflow
* Holodiastolic flow reversal in the descending aorta.
* Regurgitant volume > 60 ml
* Regurgitant fraction > 50 %
* Estimated regurgitant orifice area > 0.3 cm2
* Increased left ventricular size
Chest X-ray can assist in making the diagnosis, showing left ventricular hypertrophy and dilated aorta. ECG typically indicates left ventricular hypertrophy. Cardiac chamber catheterization assists in assessing the severity of regurgitation and any left ventricular dysfunction.[1]
### Physical examination[edit]
Aortic valve regurgitation vs aortic valve stenosis
The physical examination of an individual with aortic insufficiency involves auscultation of the heart to listen for the murmur of aortic insufficiency and the S3 heart sound (S3 gallop correlates with development of LV dysfunction).[1] The murmur of chronic aortic insufficiency is typically described as early diastolic and decrescendo, which is best heard in the third left intercostal space and may radiate along the left sternal border.[22]
Phonocardiograms from normal and abnormal heart sounds
If there is increased stroke volume of the left ventricle due to volume overload, an ejection systolic 'flow' murmur may also be present when auscultating the same aortic area. Unless there is concomitant aortic valve stenosis, the murmur should not start with an ejection click. There may also be an Austin Flint murmur,[1] a soft mid-diastolic rumble heard at the apical area; it appears when a regurgitant jet of blood from severe aortic insufficiency partially closes the anterior mitral leaflet. Peripheral physical signs of aortic insufficiency are related to the high pulse pressure and the rapid decrease in blood pressure during diastole due to blood returning to the heart from the aorta through the incompetent aortic valve, although the usefulness of some of the eponymous signs has been questioned:[23] Phonocardiograms detect AI by having electric voltage mimic the sounds the heart makes.[24]
Characteristics\- indicative of aortic regurgitation are as follow:
* Corrigan's pulse [25]
* De Musset's sign [26]
* Quincke's sign [26]
* Traube's sign [27]
* Duroziez's sign [26]
* Landolfi's sign [27]
* Becker's sign [27]
* Müller's sign [26]
* Mayne's sign [27]
* Rosenbach's sign [27]
* Gerhardt's sign [27]
* Hill's sign [27]
* Lincoln sign [27]
* Sherman sign [27]
### Classification[edit]
The hemodynamic sequelae of AI are dependent on the rate of onset of AI.[28] Therefore, can be acute or chronic as follows:
Play media
Aortic regurgitation
* Acute aortic insufficiency In acute AI, as may be seen with acute perforation of the aortic valve due to endocarditis, there will be a sudden increase in the volume of blood in the left ventricle. The ventricle is unable to deal with the sudden change in volume.[29] The filling pressure of the left ventricle will increase. This causes pressure in the left atrium to rise, and the individual will develop pulmonary edema. Severe acute aortic insufficiency is considered a medical emergency. There is a high mortality rate if the individual does not undergo immediate surgery for aortic valve replacement.[9]
Acute AI usually presents as florid congestive heart failure, and will not have any of the signs associated with chronic AI since the left ventricle had not yet developed the eccentric hypertrophy and dilatation that allow an increased stroke volume, which in turn cause bounding peripheral pulses. On auscultation, there may be a short diastolic murmur and a soft S1. S1 is soft because the elevated filling pressures close the mitral valve in diastole.[medical citation needed]
* Chronic aortic insufficiency If the individual survives the initial hemodynamic derailment that acute AI presents, the left ventricle adapts by its eccentric hypertrophy and dilatation with a subsequent compensated volume overload. The left ventricular filling pressures will revert to normal and the individual will no longer have overt heart failure. In this compensated phase, the individual may be totally asymptomatic and may have normal exercise tolerance. Eventually (typically after a latency period) the left ventricle will become decompensated, and filling pressures will increase. Some individuals enter this decompensated phase asymptomatically, treatment for AI involves aortic valve replacement prior to this decompensation phase.[30]
## Treatment[edit]
Aortic insufficiency or aortic regurgitation can be treated either medically or surgically, depending on the acuteness of presentation, the symptoms and signs associated with the disease process, and the degree of left ventricular dysfunction.[5][31] Surgical treatment in asymptomatic patients has been recommended if the ejection fraction falls to 50% or below, in the face of progressive and severe left ventricular dilatation, or with symptoms or abnormal response to exercise testing. For both groups of patients, surgery before the development of worsening ejection fraction/LV dilatation is expected to reduce the risk of sudden death, and is associated with lower peri-operative mortality. Also, surgery is optimally performed immediately in acute cases.[1][5]
### Medical treatment[edit]
Losartan is a type of angiotensin II receptor antagonist.
Medical therapy of chronic aortic insufficiency that is stable and asymptomatic involves the use of vasodilators.[1] Trials have shown a short term benefit in the use of ACE inhibitors or angiotensin II receptor antagonists, nifedipine, and hydralazine in improving left ventricular wall stress, ejection fraction, and mass.[5] The goal in using these pharmacologic agents is to decrease the afterload so that the left ventricle is somewhat spared.[32] The regurgitant fraction may not change significantly, since the gradient between the aortic and left ventricular pressures is usually fairly low at the initiation of treatment. Other rather conservative medical treatments for stable and asymptomatic cases include low sodium diet, diuretics, digoxin, calcium blockers and avoiding very strenuous activity.[1]
As of 2007, the American Heart Association no longer recommends antibiotics for endocarditis prophylaxis before certain procedures in patients with aortic insufficiency.[33] Antibiotic prophylaxis to prevent endocarditis before gastrointestinal or genitourinary procedures is no longer recommended for any patient with valvular disease.[33] Cardiac stress test is useful in identifying individuals that may be best suited for surgical intervention.[34] Radionuclide angiography is recommended and useful when the systolic wall stress is calculated and combined to the results.[35]
### Surgery[edit]
A surgical treatment for AI is aortic valve replacement;[3] this is currently an open-heart procedure. In the case of severe acute aortic insufficiency, all individuals should undergo surgery, if there are no absolute contraindications (for surgery).[5][36] Individuals with bacteremia with aortic valve endocarditis should not wait for treatment with antibiotics to take effect, given the high mortality associated with the acute AI. Replacement with an aortic valve homograft should be performed if feasible.[37][38]
Indications for surgery for chronic severe aortic insufficiency[20] Symptoms Ejection fraction Additional Findings
Present
(NYHA II-IV) Any none
Absent > 50% Abnormal exercise test, severe LV dilatation
(systolic ventricular diameter >55 mm)
Absent <=50 % none
Cardiac surgery for other cause (i.e.: CAD, other valvular disease, ascending aortic aneurysm)
## Prognosis[edit]
The risk of death in individuals with aortic insufficiency, dilated ventricle, normal ejection fraction who are asymptomatic is about 0.2 percent per year. Risk increases if the ejection fraction decreases or if the individual develops symptoms.[36]
Individuals with chronic (severe) aortic regurgitation follow a course that once symptoms appear, surgical intervention is needed. AI is fatal in 10 to 20% of individuals who do not undergo surgery for this condition. Left ventricle dysfunction determines to an extent the outlook for severity of aortic regurgitation cases.[5][39]
## References[edit]
1. ^ a b c d e f g h i j k l Chapter 1: Diseases of the Cardiovascular system > Section: Valvular Heart Disease in: Elizabeth D Agabegi; Agabegi, Steven S. (2008). Step-Up to Medicine (Step-Up Series). Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 978-0-7817-7153-5.
2. ^ a b Lancellotti, P.; Tribouilloy, C.; Hagendorff, A.; Moura, L.; Popescu, B. A.; Agricola, E.; Monin, J. L.; Pierard, L. A.; Badano, L.; Zamorano, J. L.; Sicari, R.; Vahanian, A.; Roelandt, J. R. T. C. (7 April 2010). "European Association of Echocardiography recommendations for the assessment of valvular regurgitation. Part 1: aortic and pulmonary regurgitation (native valve disease)" (PDF). European Journal of Echocardiography. 11 (3): 223–244. doi:10.1093/ejechocard/jeq030. PMID 20375260. Retrieved 4 June 2016.
3. ^ a b Choices, NHS. "Aortic valve replacement - Why it's done - NHS Choices". www.nhs.uk. Retrieved 4 June 2016.
4. ^ "Aortic insufficiency: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-05-16.
5. ^ a b c d e f "Aortic Regurgitation: Background, Pathophysiology, Etiology". 2018-11-19. Cite journal requires `|journal=` (help)
6. ^ Schade R, Andersohn F, Suissa S, Haverkamp W, Garbe E (2007). "Dopamine agonists and the risk of cardiac-valve regurgitation". N. Engl. J. Med. 356 (1): 29–38. doi:10.1056/NEJMoa062222. PMID 17202453.
7. ^ Zanettini R, Antonini A, Gatto G, Gentile R, Tesei S, Pezzoli G (2007). "Valvular heart disease and the use of dopamine agonists for Parkinson's disease". N. Engl. J. Med. 356 (1): 39–46. doi:10.1056/NEJMoa054830. PMID 17202454.
8. ^ Hijazi, Ziyad M.; Ruiz, Carlos E.; Bonhoeffer, Philipp; Feldman, Ted (2006-01-17). Transcatheter Valve Repair. CRC Press. p. 31. ISBN 9781841844725.
9. ^ a b c Maurer, Gerald (2006-07-01). "Aortic regurgitation". Heart. 92 (7): 994–1000. doi:10.1136/hrt.2004.042614. ISSN 1355-6037. PMC 1860728. PMID 16775114.
10. ^ Galbraith, Alan; Bullock, Shane; Manias, Elizabeth; Hunt, Barry; Richards, Ann (2015-08-12). Fundamentals of Pharmacology: An Applied Approach for Nursing and Health. Routledge. p. 483. ISBN 9781317325871.
11. ^ Ginsburg, Geoffrey S.; Willard, Huntington F. (2013-01-01). Genomic and Personalized Medicine. Academic Press. p. 543. ISBN 9780123822277.
12. ^ Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2012-05-01). Robbins Basic Pathology. Elsevier Health Sciences. p. 331. ISBN 978-1455737871.
13. ^ Topol, Eric J.; Califf, Robert M. (2007). Textbook of Cardiovascular Medicine. Lippincott Williams & Wilkins. p. 381. ISBN 9780781770125. Retrieved 4 June 2016.
14. ^ Haase, Jürgen; Schäfers, Hans-Joachim; Sievert, Horst; Waksman, Ron (2010-04-01). Cardiovascular Interventions in Clinical Practice. John Wiley & Sons. p. 104. ISBN 9781444316711.
15. ^ Haase, Jürgen; Schäfers, Hans-Joachim; Sievert, Horst; Waksman, Ron (2010-04-01). Cardiovascular Interventions in Clinical Practice. John Wiley & Sons. p. 102. ISBN 9781444316711. Retrieved 4 June 2016.
16. ^ "Aortic Valve Anatomy: Overview, Gross Anatomy, Microscopic Anatomy". 2018-09-25. Cite journal requires `|journal=` (help)
17. ^ Mulroney, Susan; Myers, Adam (2015-08-31). Netter's Essential Physiology. Elsevier Health Sciences. p. 118. ISBN 9780323375849.
18. ^ Mandeville, Lisa K.; Troiano, Nan H. (1999-01-01). High Risk and Critical Care Intrapartum Nursing. Lippincott Williams & Wilkins. p. 67. ISBN 9780397554676.
19. ^ "UOTW#69 - Ultrasound of the Week". Ultrasound of the Week. 3 April 2016. Retrieved 27 May 2017.
20. ^ a b Bonow, RO; American Heart Association Task Force on Practice Guidelines (Writing Committee to revise the 1998 guidelines for the management of patients with valvular heart disease); Society of Cardiovascular Anesthesiologists; Bonow, RO; Carabello, BA; Chatterjee, K; De Leon Jr, AC; Faxon, DP; et al. (2006). "ACC/AHA guidelines for the management of patients with valvular heart disease. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines". J. Am. Coll. Cardiol. 48 (3): e1–148. doi:10.1016/j.jacc.2006.05.021. PMID 16875962.
21. ^ Nishimura, Rick A.; Otto, Catherine M.; Bonow, Robert O.; Carabello, Blase A.; Erwin, John P.; Guyton, Robert A.; O'Gara, Patrick T.; Ruiz, Carlos E.; Skubas, Nikolaos J. (2014-07-01). "2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines". The Journal of Thoracic and Cardiovascular Surgery. 148 (1): e1–e132. doi:10.1016/j.jtcvs.2014.05.014. ISSN 1097-685X. PMID 24939033.
22. ^ Bickley, Lynn S.; Szilagyi, Peter G.; Bates, Barbara (2009-01-01). Bates' Guide to Physical Examination and History Taking. Lippincott Williams & Wilkins. p. 368. ISBN 9780781780582.
23. ^ Babu AN, Kymes SM, Carpenter Fryer SM (2003). "Eponyms and the diagnosis of aortic regurgitation: what says the evidence?". Ann. Intern. Med. 138 (9): 736–42. doi:10.7326/0003-4819-138-9-200305060-00010. PMID 12729428. S2CID 19014006.
24. ^ Tang, Hong; Zhang, Jinhui; Sun, Jian; Qiu, Tianshuang; Park, Yongwan (1 April 2016). "Phonocardiogram signal compression using sound repetition and vector quantization". Computers in Biology and Medicine. 71: 24–34. doi:10.1016/j.compbiomed.2016.01.017. ISSN 0010-4825. PMID 26871603.
25. ^ Murthy, Pothuri Radha Krishna (2013-07-30). Heart in Fours: Cardiology for Residents and Practitioners. JP Medical Ltd. p. 47. ISBN 9789350904930. Retrieved 4 June 2016.
26. ^ a b c d Camm, Christian F.; Camm, A. John (2016-01-06). Clinical Guide to Cardiology. John Wiley & Sons. p. 10. ISBN 9781119079255. Retrieved 4 June 2016.
27. ^ a b c d e f g h i Ashrafian, Hutan (8 March 2006). "Pulsatile pseudo-proptosis, aortic regurgitation and 31 eponyms". International Journal of Cardiology. 107 (3): 421–423. doi:10.1016/j.ijcard.2005.01.060. ISSN 0167-5273. PMID 16503268. – via ScienceDirect (Subscription may be required or content may be available in libraries.)
28. ^ Mokadam, Nahush A.; Stout, Karen K.; Verrier, Edward D. (2011-01-01). "Management of Acute Regurgitation in Left-Sided Cardiac Valves". Texas Heart Institute Journal. 38 (1): 9–19. ISSN 0730-2347. PMC 3060740. PMID 21423463.
29. ^ Stout, Karen K.; Verrier, Edward D. (2009-06-30). "Acute Valvular Regurgitation". Circulation. 119 (25): 3232–3241. doi:10.1161/CIRCULATIONAHA.108.782292. ISSN 0009-7322. PMID 19564568.
30. ^ Bekeredjian, Raffi; Grayburn, Paul A. (2005-07-05). "Valvular Heart Disease Aortic Regurgitation". Circulation. 112 (1): 125–134. doi:10.1161/CIRCULATIONAHA.104.488825. ISSN 0009-7322. PMID 15998697.
31. ^ "Aortic Regurgitation. Health Information and treatment | Patient". Patient. Retrieved 2016-06-04.
32. ^ "Heart Failure Medication: Beta-Blockers, Alpha Activity, Beta-Blockers, Beta-1 Selective, ACE Inhibitors, ARBs, Inotropic Agents, Vasodilators, Nitrates, B-type Natriuretic Peptides, I(f) Inhibitors, ARNIs, Diuretics, Loop, Diuretics, Thiazide, Diuretics, Other, Diuretics, Potassium-Sparing, Aldosterone Antagonists, Selective, Alpha/Beta Adrenergic Agonists, Calcium Channel Blockers, Anticoagulants, Cardiovascular, Opioid Analgesics". emedicine.medscape.com. Retrieved 2016-06-04.
33. ^ a b Wilson W, Taubert KA, Gewitz M, et al. (October 2007). "Prevention of Infective Endocarditis: Guidelines from the American Heart Association". Circulation. 116 (15): 1736–54. doi:10.1161/CIRCULATIONAHA.106.183095. PMID 17446442.
34. ^ Picano, Eugenio; Pibarot, Philippe; Lancellotti, Patrizio; Monin, Jean Luc; Bonow, Robert O. (2009-12-08). "The Emerging Role of Exercise Testing and Stress Echocardiography in Valvular Heart Disease". Journal of the American College of Cardiology. 54 (24): 2251–2260. doi:10.1016/j.jacc.2009.07.046. ISSN 0735-1097. PMID 19958961.
35. ^ Members, Committee; Klocke, Francis J.; Baird, Michael G.; Lorell, Beverly H.; Bateman, Timothy M.; Messer, Joseph V.; Berman, Daniel S.; O’Gara, Patrick T.; Carabello, Blase A. (2003-09-16). "ACC/AHA/ASNC Guidelines for the Clinical Use of Cardiac Radionuclide Imaging—Executive Summary A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASNC Committee to Revise the 1995 Guidelines for the Clinical Use of Cardiac Radionuclide Imaging)". Circulation. 108 (11): 1404–1418. doi:10.1161/01.CIR.0000080946.42225.4D. ISSN 0009-7322. PMID 12975245.
36. ^ a b Bonow, Robert O. (2013-02-19). "Chronic Mitral Regurgitation and Aortic Regurgitation". Journal of the American College of Cardiology. 61 (7): 693–701. doi:10.1016/j.jacc.2012.08.1025. ISSN 0735-1097. PMID 23265342.
37. ^ Carrel, Thierry (2009-01-01). "Aortic valve and/or aortic root replacement using an aortic homograft". Multimedia Manual of Cardio-Thoracic Surgery. 2009 (626): mmcts.2009.003905. doi:10.1510/mmcts.2009.003905. ISSN 1813-9175. PMID 24413404.
38. ^ Prendergast, Bernard D.; Tornos, Pilar (2010-03-09). "Surgery for Infective Endocarditis Who and When?". Circulation. 121 (9): 1141–1152. doi:10.1161/CIRCULATIONAHA.108.773598. ISSN 0009-7322. PMID 20212293.
39. ^ "Aortic Regurgitation / Aortic insufficiency information. Patient | Patient". Patient. Retrieved 2016-06-02.
## Further reading[edit]
* Hamirani, Yasmin S.; Dietl, Charles A.; Voyles, Wyatt; Peralta, Mel; Begay, Darlene; Raizada, Veena (2012-08-28). "Acute Aortic Regurgitation". Circulation. 126 (9): 1121–1126. doi:10.1161/CIRCULATIONAHA.112.113993. ISSN 0009-7322. PMID 22927474.
* Dujardin, Karl S.; Enriquez-Sarano, Maurice; Schaff, Hartzell V.; Bailey, Kent R.; Seward, James B.; Tajik, A. Jamil (1999-04-13). "Mortality and Morbidity of Aortic Regurgitation in Clinical Practice A Long-Term Follow-Up Study". Circulation. 99 (14): 1851–1857. doi:10.1161/01.CIR.99.14.1851. ISSN 0009-7322. PMID 10199882.
## External links[edit]
Classification
D
* ICD-10: I06, I35, Q23.1
* ICD-9-CM: 395.1, 746.4
* MeSH: D001022
* DiseasesDB: 829
* SNOMED CT: 60234000
External resources
* MedlinePlus: 000179
* eMedicine: med/156 emerg/39 ped/2487
Scholia has a topic profile for Aortic insufficiency.
* v
* t
* e
Congenital heart defects
Heart septal defect
Aortopulmonary septal defect
* Double outlet right ventricle
* Taussig–Bing syndrome
* Transposition of the great vessels
* dextro
* levo
* Persistent truncus arteriosus
* Aortopulmonary window
Atrial septal defect
* Sinus venosus atrial septal defect
* Lutembacher's syndrome
Ventricular septal defect
* Tetralogy of Fallot
Atrioventricular septal defect
* Ostium primum
Consequences
* Cardiac shunt
* Cyanotic heart disease
* Eisenmenger syndrome
Valvular heart disease
Right
* pulmonary valves
* stenosis
* insufficiency
* absence
* tricuspid valves
* stenosis
* atresia
* Ebstein's anomaly
Left
* aortic valves
* stenosis
* insufficiency
* bicuspid
* mitral valves
* stenosis
* regurgitation
Other
* Underdeveloped heart chambers
* right
* left
* Uhl anomaly
* Dextrocardia
* Levocardia
* Cor triatriatum
* Crisscross heart
* Brugada syndrome
* Coronary artery anomaly
* Anomalous aortic origin of a coronary artery
* Ventricular inversion
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Aortic insufficiency | c0003504 | 2,156 | wikipedia | https://en.wikipedia.org/wiki/Aortic_insufficiency | 2021-01-18T19:02:48 | {"mesh": ["D001022"], "umls": ["C0003504"], "wikidata": ["Q616087"]} |
Mukamel syndrome
SpecialtyDermatology
Mukamel syndrome is a cutaneous condition characterized by premature graying, lentigines, depigmented macules, microcephaly, and scoliosis.[1]
## See also[edit]
* Mulberry molar
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
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This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Mukamel syndrome | None | 2,157 | wikipedia | https://en.wikipedia.org/wiki/Mukamel_syndrome | 2021-01-18T19:08:46 | {"wikidata": ["Q16898066"]} |
3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.
The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate).
Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Less often, individuals with 3MC syndrome can have abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals.
3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.
## Frequency
3MC syndrome is a rare disorder; its prevalence is unknown.
## Causes
3MC syndrome is caused by mutations in the COLEC10, COLEC11, or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of steps called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during development before birth to form the organs and systems of the body. The lectin complement pathway appears to be particularly important in directing the migration of neural crest cells. These cells give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. After birth, the lectin complement pathway is involved in the immune system.
The COLEC10, COLEC11, and MASP1 gene mutations that cause 3MC syndrome impair or eliminate the function of the corresponding proteins, resulting in faulty control of cell migration in early development. Impaired cell migration disrupts the normal growth and development of several tissues and organs, which leads to the various abnormalities that occur in this disorder. Researchers suggest that similar pathways in the immune system can compensate for problems in the lectin complement pathway, which explains why immune system abnormalities are not part of 3MC syndrome.
### Learn more about the genes associated with 3MC syndrome
* COLEC10
* COLEC11
* MASP1
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| 3MC syndrome | c0796059 | 2,158 | medlineplus | https://medlineplus.gov/genetics/condition/3mc-syndrome/ | 2021-01-27T08:25:30 | {"gard": ["1118"], "mesh": ["C537738"], "omim": ["257920", "265050", "248340"], "synonyms": []} |
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Charcot-Marie-Tooth disease type 2S | c4015349 | 2,159 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443073 | 2021-01-23T18:11:56 | {"omim": ["616155"], "icd-10": ["G60.0"], "synonyms": ["CMT2S"]} |
Overview of paleopolyploidy process. Many higher eukaryotes were paleopolyploids at some point during their evolutionary history.
Paleopolyploidy is the result of genome duplications which occurred at least several million years ago (MYA). Such an event could either double the genome of a single species (autopolyploidy) or combine those of two species (allopolyploidy). Because of functional redundancy, genes are rapidly silenced or lost from the duplicated genomes. Most paleopolyploids, through evolutionary time, have lost their polyploid status through a process called diploidization, and are currently considered diploids e.g. baker's yeast,[1] Arabidopsis thaliana,[2] and perhaps humans.[3][4][5][6]
Paleopolyploidy is extensively studied in plant lineages. It has been found that almost all flowering plants have undergone at least one round of genome duplication at some point during their evolutionary history. Ancient genome duplications are also found in the early ancestor of vertebrates (which includes the human lineage) near the origin of the bony fishes, and another in the stem lineage of teleost fishes.[7] Evidence suggests that baker's yeast (Saccharomyces cerevisiae), which has a compact genome, experienced polyploidization during its evolutionary history.
The term mesopolyploid is sometimes used for species that have undergone whole genome multiplication events (whole genome duplication, whole genome triplification, etc.) in more recent history, such as within the last 17 million years.[8]
## Contents
* 1 Eukaryotes
* 2 Detection method
* 3 Evolutionary importance
* 4 Allopolyploidy and autopolyploidy
* 5 Vertebrates as paleopolyploid
* 6 See also
* 7 References
* 8 Further reading
## Eukaryotes[edit]
A diagram that summarizes all well-known paleopolyploidization events.
Ancient genome duplications are widespread throughout eukaryotic lineages, particularly in plants. Studies suggest that the common ancestor of Poaceae, the grass family which includes important crop species such as maize, rice, wheat, and sugar cane, shared a whole genome duplication about 70 million years ago.[9] In more ancient monocot lineages one or likely multiple rounds of additional whole genome duplications had occurred, which were however not shared with the ancestral eudicots.[10] Further independent more recent whole genome duplications have occurred in the lineages leading to maize, sugar cane and wheat, but not rice, sorghum or foxtail millet.[citation needed]
A polyploidy event 160 million years ago is theorized to have created the ancestral line that led to all modern flowering plants.[11] That paleopolyploidy event was studied by sequencing the genome of an ancient flowering plant, Amborella trichopoda.[12]
The core eudicots also shared a common whole genome triplication (paleo-hexaploidy), which was estimated to have occurred after monocot-eudicot divergence but before the divergence of rosids and asterids.[13][14][15] Many eudicot species have experienced additional whole genome duplications or triplications. For example, the model plant Arabidopsis thaliana, the first plant to have its entire genome sequenced, has experienced at least two additional rounds of whole genome duplication since the duplication shared by the core eudicots.[2] The most recent event took place before the divergence of the Arabidopsis and Brassica lineages, about 20 million years ago to 45 million years ago. Other examples include the sequenced eudicot genomes of apple, soybean, tomato, cotton, etc.[citation needed]
Compared with plants, paleopolyploidy is much rarer in the animal kingdom. It has been identified mainly in amphibians and bony fishes. Although some studies suggested one or more common genome duplications are shared by all vertebrates (including humans), the evidence is not as strong as in the other cases because the duplications, if they exist, happened so long ago, and the matter is still under debate. The idea that vertebrates share a common whole genome duplication is known as the 2R Hypothesis. Many researchers are interested in the reason why animal lineages, particularly mammals, have had so many fewer whole genome duplications than plant lineages.[citation needed]
A well-supported paleopolyploidy has been found in baker's yeast (Saccharomyces cerevisiae), despite its small, compact genome (~13Mbp), after the divergence from the common yeast Kluyveromyces waltii.[16] Through genome streamlining, yeast has lost 90% of the duplicated genome over evolutionary time and is now recognized as a diploid organism.[citation needed]
## Detection method[edit]
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Duplicated genes can be identified through sequence homology on the DNA or protein level. Paleopolyploidy can be identified as massive gene duplication at one time using a molecular clock. To distinguish between whole-genome duplication and a collection of (more common) single gene duplication events, the following rules are often applied:
Detection of paleopolyploidy using Ks.
* Duplicated genes are located in large duplicated blocks. Single gene duplication is a random process and tends to make duplicated genes scattered throughout the genome.
* Duplicated blocks are non-overlapping because they were created simultaneously. Segmental duplication within the genome can fulfill the first rule; but multiple independent segmental duplications could overlap each other.
In theory, the two duplicated genes should have the same "age"; that is, the divergence of the sequence should be equal between the two genes duplicated by paleopolyploidy (homeologs). Synonymous substitution rate, Ks, is often used as a molecular clock to determine the time of gene duplication. Thus, paleopolyploidy is identified as a "peak" on the duplicate number vs. Ks graph (shown on the right).
Duplication events that occurred a long time ago in the history of various evolutionary lineages can be difficult to detect because of subsequent diploidization (such that a polyploid starts to behave cytogenetically as a diploid over time) as mutations and gene translations gradually make one copy of each chromosome unlike its counterpart. This usually results in a low confidence for identifying a very ancient paleopolyploidy.
## Evolutionary importance[edit]
Paleopolyploidization events lead to massive cellular changes, including doubling of the genetic material, changes in gene expression and increased cell size. Gene loss during diploidization is not completely random, but heavily selected. Genes from large gene families are duplicated. On the other hand, individual genes are not duplicated.[clarification needed] Overall, paleopolyploidy can have both short-term and long-term evolutionary effects on an organism's fitness in the natural environment.[citation needed]
Enhanced phenotypic evolution
Whole genome duplication may increase the rates and efficiency by which organisms acquire new biological traits. However, one test of this hypothesis, which compared evolutionary rates in innovation in early teleost fishes (with duplicate genomes) to early holostean fishes (without duplicated genomes) found little difference between the two.[7]
Genome diversity
Genome doubling provided the organism with redundant alleles that can evolve freely with little selection pressure. The duplicated genes can undergo neofunctionalization or subfunctionalization which could help the organism adapt to the new environment or survive different stress conditions.[citation needed]
Hybrid vigor
Polyploids often have larger cells and even larger organs. Many important crops, including wheat, maize and cotton, are paleopolyploids which were selected for domestication by ancient peoples.[citation needed]
Speciation
It has been suggested that many polyploidization events created new species, via a gain of adaptive traits, or by sexual incompatibility with their diploid counterparts. An example would be the recent speciation of allopolyploid Spartina — S. anglica; the polyploid plant is so successful that it is listed as an invasive species in many regions.[citation needed]
## Allopolyploidy and autopolyploidy[edit]
There are two major divisions of polyploidy, allopolyplody and autopolyploidy. Allopolyploids arise as a result of the hybridization of two related species, while autopolyploids arise from the duplication of a species' genome as a result of hybridization of two conspecific parents,[17] or somatic doubling in reproductive tissue of a parent. Allopolyploid species are believed to be much more prevalent in nature,[17] possibly because allopolyploids inherit different genomes, resulting in increased heterozygosity, and therefore higher fitness. These different genomes result in an increased likelihood of large genomic reorganizations,[17][18] which can be either deleterious, or advantageous. Autopolyploidy, however, is generally considered to be a neutral process,[19] though it has been hypothesized that autopolyploidy may serve as a useful mechanism for inducing speciation, and therefore assisting in the ability of an organism to quickly colonize in new habitats without undergoing the time-intensive and costly period of genomic reorganization experienced by allopolyploid species. One common source of autopolyploidy in plants stems from "perfect flowers", which are capable of self-pollination, or "selfing". This, along with errors in meiosis that lead to aneuploidy, can create an environment where autopolyploidy is very likely. This fact can be exploited in a laboratory setting by using colchicine to inhibit chromosome segregation during meiosis, creating synthetic autopolyploid plants.[citation needed]
Following polyploidy events, there are several possible fates for duplicated genes; both copies may be retained as functional genes, change in gene function may occur in one or both copies, gene silencing may mask one or both copies, or complete gene loss may occur.[17][20] Polyploidy events will result in higher levels of heterozygosity, and, over time, can lead to an increase in the total number of functional genes in the genome. As time passes after a genome duplication event, many genes will change function as a result of either change in duplicate gene function for both allo- and autopolyploid species, or there will be changes in gene expression caused by genomic rearrangements induced by genome duplication in allopolyploids. When both copies of a gene are retained, and thus the number of copies doubled, there is a chance that there will be a proportional increase in expression of that gene, resulting in twice as much mRNA transcript being produced. There is also the possibility that transcription of a duplicated gene will be down-regulated, resulting in less than two-fold increase in transcription of that gene, or that the duplication event will yield more than a two-fold increase in transcription.[21] In one species, Glycine dolichocarpa (a close relative of the soybean, Glycine max), it has been observed that following a genome duplication roughly 500,000 years ago, there has been a 1.4 fold increase in transcription, indicating that there has been a proportional decrease in transcription relative to gene copy number following the duplication event.[21]
## Vertebrates as paleopolyploid[edit]
The hypothesis of vertebrate paleopolyploidy originated as early as the 1970s, proposed by the biologist Susumu Ohno. He reasoned that the vertebrate genome could not achieve its complexity without large scale whole-genome duplications. The "two rounds of genome duplication" hypothesis (2R hypothesis) came about, and gained in popularity, especially among developmental biologists.[citation needed]
Some researchers have questioned the 2R hypothesis because it predicts that vertebrate genomes should have a 4:1 gene ratio compared with invertebrate genomes, and this is not supported by findings from the 48 vertebrate genome projects available in mid-2011. For example, the human genome consists of ~21,000 protein coding genes according to June, 2011 counts at UCSC and Ensembl genome analysis centers[citation needed] while an average invertebrate genome size is about 15,000 genes. The amphioxus genome sequence provided support for the hypothesis of two rounds of whole genome duplication, followed by loss of duplicate copies of most genes.[22] Additional arguments against 2R were based on the lack of the (AB)(CD) tree topology amongst four members of a gene family in vertebrates. However, if the two genome duplications occurred close together, we would not expect to find this topology.[23] A recent study generated the sea lamprey genetic map, which yielded strong support for the hypothesis that a single whole-genome duplication occurred in the basal vertebrate lineage, preceded and followed by several evolutionarily independent segmental duplications that occurred over chordate evolution.[24]
## See also[edit]
* Gene duplication
* Genomics
* Karyotype
* Ploidy
* Polyploidy
* Speciation
## References[edit]
1. ^ Kellis M, Birren BW, Lander ES (April 2004). "Proof and evolutionary analysis of ancient genome duplication in the yeast Saccharomyces cerevisiae". Nature. 428 (6983): 617–24. Bibcode:2004Natur.428..617K. doi:10.1038/nature02424. PMID 15004568. S2CID 4422074.
2. ^ a b Bowers JE, Chapman BA, Rong J, Paterson AH (March 2003). "Unravelling angiosperm genome evolution by phylogenetic analysis of chromosomal duplication events". Nature. 422 (6930): 433–8. Bibcode:2003Natur.422..433B. doi:10.1038/nature01521. PMID 12660784. S2CID 4423658.
3. ^ Smith JJ, Kuraku S, Holt C, Sauka-Spengler T, Jiang N, Campbell MS, et al. (April 2013). "Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution". Nature Genetics. 45 (4): 415–21, 421e1-2. doi:10.1038/ng.2568. PMC 3709584. PMID 23435085.
4. ^ Wolfe KH (May 2001). "Yesterday's polyploids and the mystery of diploidization". Nature Reviews. Genetics. 2 (5): 333–41. doi:10.1038/35072009. PMID 11331899. S2CID 20796914.
5. ^ Blanc G, Wolfe KH (July 2004). "Widespread paleopolyploidy in model plant species inferred from age distributions of duplicate genes". The Plant Cell. 16 (7): 1667–78. doi:10.1105/tpc.021345. PMC 514152. PMID 15208399.
6. ^ Blanc G, Wolfe KH (July 2004). "Functional divergence of duplicated genes formed by polyploidy during Arabidopsis evolution". The Plant Cell. 16 (7): 1679–91. doi:10.1105/tpc.021410. PMC 514153. PMID 15208398.
7. ^ a b Clarke JT, Lloyd GT, Friedman M (October 2016). "Little evidence for enhanced phenotypic evolution in early teleosts relative to their living fossil sister group". Proceedings of the National Academy of Sciences of the United States of America. 113 (41): 11531–11536. doi:10.1073/pnas.1607237113. PMC 5068283. PMID 27671652.
8. ^ Wang X, Wang H, Wang J, Sun R, Wu J, Liu S, et al. (August 2011). "The genome of the mesopolyploid crop species Brassica rapa". Nature Genetics. 43 (10): 1035–9. doi:10.1038/ng.919. PMID 21873998. S2CID 205358099.
9. ^ Paterson AH, Bowers JE, Chapman BA (June 2004). "Ancient polyploidization predating divergence of the cereals, and its consequences for comparative genomics". Proceedings of the National Academy of Sciences of the United States of America. 101 (26): 9903–8. Bibcode:2004PNAS..101.9903P. doi:10.1073/pnas.0307901101. PMC 470771. PMID 15161969.
10. ^ Tang H, Bowers JE, Wang X, Paterson AH (January 2010). "Angiosperm genome comparisons reveal early polyploidy in the monocot lineage". Proceedings of the National Academy of Sciences of the United States of America. 107 (1): 472–7. Bibcode:2010PNAS..107..472T. doi:10.1073/pnas.0908007107. PMC 2806719. PMID 19966307.
11. ^ Callaway E (December 2013). "Shrub genome reveals secrets of flower power". Nature. doi:10.1038/nature.2013.14426. S2CID 88293665.
12. ^ Adams K (December 2013). "Genomics. Genomic clues to the ancestral flowering plant". Science. 342 (6165): 1456–7. Bibcode:2013Sci...342.1456A. doi:10.1126/science.1248709. PMID 24357306. S2CID 206553839.
13. ^ Tang H, Wang X, Bowers JE, Ming R, Alam M, Paterson AH (December 2008). "Unraveling ancient hexaploidy through multiply-aligned angiosperm gene maps". Genome Research. 18 (12): 1944–54. doi:10.1101/gr.080978.108. PMC 2593578. PMID 18832442.
14. ^ Jaillon O, Aury JM, Noel B, Policriti A, Clepet C, Casagrande A, et al. (September 2007). "The grapevine genome sequence suggests ancestral hexaploidization in major angiosperm phyla". Nature. 449 (7161): 463–7. Bibcode:2007Natur.449..463J. doi:10.1038/nature06148. PMID 17721507.
15. ^ Tang H, Bowers JE, Wang X, Ming R, Alam M, Paterson AH (April 2008). "Synteny and collinearity in plant genomes". Science. 320 (5875): 486–8. Bibcode:2008Sci...320..486T. doi:10.1126/science.1153917. PMID 18436778. S2CID 206510918.
16. ^ Wong S, Butler G, Wolfe KH (July 2002). "Gene order evolution and paleopolyploidy in hemiascomycete yeasts". Proceedings of the National Academy of Sciences of the United States of America. 99 (14): 9272–7. Bibcode:2002PNAS...99.9272W. doi:10.1073/pnas.142101099. PMC 123130. PMID 12093907.
17. ^ a b c d Soltis PS, Soltis DE (June 2000). "The role of genetic and genomic attributes in the success of polyploids". Proceedings of the National Academy of Sciences of the United States of America. 97 (13): 7051–7. Bibcode:2000PNAS...97.7051S. doi:10.1073/pnas.97.13.7051. PMC 34383. PMID 10860970.
18. ^ Parisod C, Holderegger R, Brochmann C (April 2010). "Evolutionary consequences of autopolyploidy". The New Phytologist. 186 (1): 5–17. doi:10.1111/j.1469-8137.2009.03142.x. PMID 20070540.
19. ^ Parisod C, Holderegger R, Brochmann C (April 2010). "Evolutionary consequences of autopolyploidy". The New Phytologist. 186 (1): 5–17. doi:10.1111/j.1469-8137.2009.03142.x. PMID 20070540.
20. ^ Wendel JF (2000). Genome evolution in polyploids. Plant Molecular Biology. 42. pp. 225–249. doi:10.1007/978-94-011-4221-2_12. ISBN 978-94-010-5833-9. PMID 10688139.
21. ^ a b Coate JE, Doyle JJ (2010). "Quantifying whole transcriptome size, a prerequisite for understanding transcriptome evolution across species: an example from a plant allopolyploid". Genome Biology and Evolution. 2: 534–46. doi:10.1093/gbe/evq038. PMC 2997557. PMID 20671102.
22. ^ Putnam NH, Butts T, Ferrier DE, Furlong RF, Hellsten U, Kawashima T, et al. (June 2008). "The amphioxus genome and the evolution of the chordate karyotype". Nature. 453 (7198): 1064–71. Bibcode:2008Natur.453.1064P. doi:10.1038/nature06967. PMID 18563158.
23. ^ Furlong RF, Holland PW (April 2002). "Were vertebrates octoploid?". Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 357 (1420): 531–44. doi:10.1098/rstb.2001.1035. PMC 1692965. PMID 12028790.
24. ^ Smith JJ, Keinath MC (August 2015). "The sea lamprey meiotic map improves resolution of ancient vertebrate genome duplications". Genome Research. 25 (8): 1081–90. doi:10.1101/gr.184135.114. PMC 4509993. PMID 26048246.
## Further reading[edit]
* Adams KL, Wendel JF (April 2005). "Polyploidy and genome evolution in plants". Current Opinion in Plant Biology. 8 (2): 135–41. doi:10.1016/j.pbi.2005.01.001. PMID 15752992.
* Cui L, Wall PK, Leebens-Mack JH, Lindsay BG, Soltis DE, Doyle JJ, et al. (June 2006). "Widespread genome duplications throughout the history of flowering plants". Genome Research. 16 (6): 738–49. doi:10.1101/gr.4825606. PMC 1479859. PMID 16702410.
* Comai L (November 2005). "The advantages and disadvantages of being polyploid". Nature Reviews. Genetics. 6 (11): 836–46. doi:10.1038/nrg1711. PMID 16304599. S2CID 3329282.
* Otto SP, Whitton J (2000). "Polyploid incidence and evolution". Annual Review of Genetics. 34 (1): 401–437. CiteSeerX 10.1.1.323.1059. doi:10.1146/annurev.genet.34.1.401. PMID 11092833.
* Makalowski W (May 2001). "Are we polyploids? A brief history of one hypothesis". Genome Research. 11 (5): 667–70. doi:10.1101/gr.188801. PMID 11337465.
* Kellis M, Birren BW, Lander ES (April 2004). "Proof and evolutionary analysis of ancient genome duplication in the yeast Saccharomyces cerevisiae". Nature. 428 (6983): 617–24. Bibcode:2004Natur.428..617K. doi:10.1038/nature02424. PMID 15004568. S2CID 4422074.
* v
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
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*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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| Paleopolyploidy | None | 2,160 | wikipedia | https://en.wikipedia.org/wiki/Paleopolyploidy | 2021-01-18T19:07:41 | {"wikidata": ["Q3361745"]} |
## Clinical Features
Scholte et al. (1991) described a 25-year-old man with severe mental retardation, early balding, facial dysmorphism, patella luxations, acromicria, and hypogonadism. Fryns et al. (1993) described 2 unrelated males who appeared to have the same syndrome. Profound mental retardation, early balding, muscular hypotrophy, small patellae, small hands and feet, and hypogonadism were features. Fryns et al. (1993) raised the possibility that the patella luxations might be secondary to peripheral muscular hypotrophy, which in turn might be due to a myopathic process. Chromosome analysis showed normal karyotype.
Vandersteen and Hennekam (2010) reported 2 brothers with moderate to severe mental retardation, short stature, an unusual skull shape, early anterior balding, unusual facial morphology, hypogonadotropic hypogonadism with small genitalia, and small patellae. Facial dysmorphism was similar in both brothers, including a high anterior hairline, small and upslanting palpebral fissures, deeply set eyes, broad nasal tip, and everted lower lip. The proband had generalized hypotonia without focal neurologic abnormalities or myotonia, whereas his older brother had epilepsy and died at age 8 years during a seizure. Examination of the proband at age 30 years showed dolichocephaly, anterior balding that had been noted at age 25, and a telangiectatic rash on his cheeks. He had small hands and feet, as well as mildly small patellae by x-ray. His karyotype was 46,XY and array CGH showed no chromosomal imbalance. Vandersteen and Hennekam (2010) noted that the phenotype in the brothers resembled that of the patients reported by Scholte et al. (1991) and Fryns et al. (1993).
Inheritance
Vandersteen and Hennekam (2010) suggested that Scholte syndrome follows an X-linked recessive pattern of inheritance because all reported patients were male, including 2 brothers; none of the parents were consanguineous; cytogenetic studies failed to show abnormalities; and X inactivation was completely skewed in 1 of the mothers.
Molecular Genetics
### Exclusion Studies
In a patient with Scholte syndrome, Vandersteen and Hennekam (2010) found normal results from molecular testing of PQBP1 (300463) and FRAXA (see 309550).
INHERITANCE \- X-linked recessive HEAD & NECK Head \- Premature balding Face \- High forehead Eyes \- Deeply set eyes \- Upward slanting palpebral fissures \- Epicanthal folds Nose \- Broad nasal tip \- Bifid nasal tip Mouth \- Thin vermillion of upper lip \- Everted lower lip GENITOURINARY External Genitalia (Male) \- Small penis Internal Genitalia (Male) \- Small testes SKELETAL Skull \- Dolichocephaly Spine \- Kyphoscoliosis Limbs \- Hypoplastic patellae \- Subluxation of patellae Hands \- Acromicria \- Small hands Feet \- Small feet SKIN, NAILS, & HAIR Hair \- Premature balding MUSCLE, SOFT TISSUES \- Hypotrophic muscles \- Decreased subcutaneous fat NEUROLOGIC Central Nervous System \- Severe mental retardation, severe to profound \- Childhood epilepsy \- Pyramidal signs \- Generalized hypotonia \- Large lateral ventricles \- Cerebellar atrophy (in 1 patient) \- Small area of hypodensity around frontal horns (in 1 patient) Behavioral Psychiatric Manifestations \- Autistic spectrum disorder (in some patients) MISCELLANEOUS \- Five patients have been reported (last curated September 2016) ▲ Close
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*[AA]: Adrenergic agonist
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*[HAART]: highly active antiretroviral therapy
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*[nM]: nanomolars
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*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
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| SCHOLTE SYNDROME | c1866985 | 2,161 | omim | https://www.omim.org/entry/300977 | 2019-09-22T16:19:03 | {"mesh": ["C536638"], "omim": ["300977"], "orphanet": ["3041"], "synonyms": ["Alternative titles", "EARLY BALDING, PATELLA LUXATION, ACROMICRIA, AND HYPOGONADISM"]} |
Uterine clear-cell carcinoma
SpecialtyGynecology, oncology
Uterine clear-cell carcinoma (CC) is a rare form of endometrial cancer with distinct morphological features on pathology; it is aggressive and has high recurrence rate. Like uterine papillary serous carcinoma CC does not develop from endometrial hyperplasia and is not hormone sensitive, rather it arises from an atrophic endometrium. Such lesions belong to the type II endometrial cancers.[1]
## Contents
* 1 Diagnosis
* 2 Treatment
* 2.1 Staging
* 3 References
* 4 External links
## Diagnosis[edit]
The lesion is found in patients who present typically with abnormal or postmenopausal bleeding or discharge. Such bleeding is followed by further evaluation leading to a tissue diagnosis, usually done by a dilatation and curettage (D&C). A work-up to follow would look for metastasis using imaging technology including sonography and MRI. The median age at diagnosis in a large study was 66 years.[2] Histologically the lesion may coexist with classical endometrial cancer.[citation needed]
## Treatment[edit]
Prognosis of the CC is affected by age, stage, and histology as well as treatment
The primary treatment is surgical. FIGO-cancer staging is done at the time of surgery which consists of peritoneal cytology, total hysterectomy, bilateral salpingo-oophorectomy, pelvic/para-aortic lymphadenectomy, and omentectomy. The tumor is aggressive and spreads quickly into the myometrium and the lymphatic system. Thus even in presumed early stages, lymphadenectomy and omentectomy should be included in the surgical approach. If the tumor has spread surgery is cytoreductive followed by radiation therapy and/or chemotherapy.[2][3]
The five years survival was reported to be 68%.[2]
### Staging[edit]
Uterine clear-cell carcinoma is staged like other forms of endometrial carcinoma at time of surgery using the International Federation of Gynecology and Obstetrics (FIGO) cancer staging system 2009.[4]
IA Tumor confined to the uterus, no or < ½ myometrial invasion
IB Tumor confined to the uterus, > ½ myometrial invasion
II Cervical stromal invasion, but not beyond uterus
IIIA Tumor invades serosa or adnexa
IIIB Vaginal and/or parametrial involvement
IIIC1 Pelvic node involvement
IIIC2 Para-aortic involvement
IVA Tumor invasion bladder and/or bowel mucosa
IVB Distant metastases including abdominal metastases and/or inguinal lymph nodes
## References[edit]
1. ^ Gründker C, Günthert AR, Emons G (2008). "Hormonal heterogeneity of endometrial cancer". Adv Exp Med Biol. Advances in Experimental Medicine and Biology. 630: 166–88. doi:10.1007/978-0-387-78818-0_11. ISBN 978-0-387-78817-3. PMID 18637491.
2. ^ a b c C A Hamilton; M K Cheung; K Osann; L Chen; N N Teng; T A Longacre; M A Powell; M R Hendrickson; D S Kapp & J K Chan (Mar 2006). "Uterine papillary serous and clear cell carcinomas predict for poorer survival compared to grade 3 endometrioid corpus cancers". British Journal of Cancer. 94 (5): 642–6. doi:10.1038/sj.bjc.6603012. PMC 2361201. PMID 16495918.
3. ^ Stanojevic Z, Djordjevic B, Todorovska I, Lilic V, Zivadinovic R, Dunjic O (2008). "Risk factors and adjuvant chemotherapy in the treatment of endometrial cancer". J Buon. 13 (1): 23–30. PMID 18404782.
4. ^ International Journal of Gynecology and Obstetrics 105 (2009) 103–104 Revised FIGO staging for carcinoma of the vulva, cervix, and endometrium
## External links[edit]
Classification
D
* ICD-10: C54.1
* ICD-9-CM: 182
* v
* t
* e
Tumors of the female urogenital system
Adnexa
Ovaries
Glandular and epithelial/
surface epithelial-
stromal tumor
CMS:
* Ovarian serous cystadenoma
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Uterine clear-cell carcinoma | None | 2,162 | wikipedia | https://en.wikipedia.org/wiki/Uterine_clear-cell_carcinoma | 2021-01-18T19:00:25 | {"icd-9": ["182"], "icd-10": ["C54.1"], "wikidata": ["Q7902646"]} |
A number sign (#) is used with this entry because of evidence that split-hand/foot malformation with long bone deficiency-3 (SHFLD3) is associated with a duplication involving one or more genes on chromosome 17p13.3. The duplication is less than 50% penetrant and shows markedly variable expressivity, including intraindividual variability.
For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 (119100).
Clinical Features
Richieri-Costa et al. (1987) reported a Brazilian family in which 8 members were affected with various limb abnormalities, including 2 sisters, offspring of consanguineous parents, who had different limb anomalies: the tibial aplasia-ectrodactyly syndrome was present in one and unilateral bifid femur with monodactylous ectrodactyly (see Gollop-Wolfgang complex, 228250) in the other.
Lezirovitz et al. (2008) restudied the large Brazilian family reported by Richieri-Costa et al. (1987), in which there were now 9 individuals affected by split-hand/foot malformation (SHFM) with long bone deficiency; 4 had SHFM without any tibial defects, 3 had both conditions, and 2 had only unilateral tibial hemimelia. Lezirovitz et al. (2008) noted that variable expression, incomplete penetrance, and the phenomenon of anticipation were observed in this 4-generation family.
Mapping
In a large Brazilian family with SHFLD3, previously reported by Richieri-Costa et al. (1987), Lezirovitz et al. (2008) performed linkage analysis and obtained a maximum 2-point lod score of 3.62 and a maximum multipoint lod score of 5.03 on chromosome 17p13.3-p13.1, at or near marker D17S1533. Lezirovitz et al. (2008) noted that their SHFLD locus was fully enclosed in the MSSD-type IX syndactyly locus mapped by Malik et al. (2005) (see 609432), and stated that the manifestations of both syndromes were so variable that the hypothesis that both forms were allelic could not be ruled out.
The smallest region of duplication overlap among 3 unrelated families with SHFLD reported by Armour et al. (2011) was a 173-kb region on chromosome 17p13.3 defined by genomic coordinates 956,201-1,128,916 (NCBI36). This region is within the putative region identified by Lezirovitz et al. (2008) and contains BHLHA9 (615416) and 3 of 24 coding exons of ABR (600365), as well as other putative transcripts. The candidate region does not include the YWHAE gene (605066) and is telomeric to another duplication of 17p13.3 described by Bruno et al. (2010) (see 613215).
Molecular Genetics
On the basis of segregation analysis and multipoint lod scores in a 4-generation Brazilian family with SHFLD3, Lezirovitz et al. (2008) defined a 3-cM candidate region between markers D17S1529 and D17S831, encompassing 18 known genes. Sequencing of candidate gene CRK (164762) did not reveal any pathogenic mutations.
Armour et al. (2011) reported 3 unrelated kindreds with SHFLD associated with distinct but overlapping duplications of chromosome 17p13.3. Inheritance was consistent with an autosomal dominant pattern with incomplete penetrance and variable expressivity. One family was a 3-generation Mennonite family with 5 affected individuals. Three had anomalies limited to the hands and 2 also had tibial hypoplasia or aplasia. All affected individuals and obligate carriers had a 254-kb duplication at 17p13.3. Twelve carriers of the duplication were unaffected, which Armour et al. (2011) attributed to incomplete penetrance. In the second family, the proband had multiple congenital limb anomalies. The right hand had 6 metacarpals with a thumb, 3 additional digits, and a deep central cleft between digits 2 and 3. The left hand contained 5 metacarpals, the third being bifid, but was otherwise similar to the right. Radiographs of the lower limbs revealed aplasia of the tibia. The right foot had only 4 metatarsals and 4 toes with a central cleft, and the left foot had 3 metatarsals with 2 toes and a central cleft. The proband and his unaffected mother both had a 527-kb duplication at 17p13.3. Three affected individuals from a third family had a 430-kb copy gain at 17p13.3. All had SHFLD, with variable upper limb and foot involvement and tibial a/hypoplasia requiring amputations and prostheses. It could not be conclusively determined whether the copy gain was a duplication or a triplication. None of the patients had neurodevelopmental problems.
In a 3-generation family with SHFM without tibial defects, Klopocki et al. (2012) identified a 180-kb duplication on chromosome 17p13.3. Analysis of a 4-generation Brazilian family with SHFLD, originally reported by Richieri-Costa et al. (1987) and mapped to 17p13.3-p13.1 by Lezirovitz et al. (2008), revealed a 110-kb microduplication in the same region. Screening of a cohort of another 54 families with nonsyndromic SHFM, including 11 cases with long bone deficiency (SHFLD), revealed 17p13.3 duplications in 15 more families, for a total of 17 (30%) of the 56 families overall, 12 with tibial aplasia and/or hypoplasia and 5 without. The duplication breakpoints were nonrecurrent and duplication sizes ranged from 69 kb to 594 kb, with an approximately 11.8-kb overlapping region. Combining these data with the overlapping 17p13.3 duplications detected by Armour et al. (2011) in 3 families with SHFLD localized the critical region between positions 1,117,153 and 1,128,916, encompassing a single gene, BHLHA9 (615416), a putative basic helix-loop-helix transcription factor. Klopocki et al. (2012) observed high phenotypic variability, with ectrodactyly of one or more extremities as the common clinical feature; tibial involvement was present in approximately 60% of affected individuals. In addition, there was a high degree of nonpenetrance, with duplications detected in 82 individuals, of whom 42 were affected and 40 were unaffected carriers. A clear sex bias was also observed, with more males (30 of 42) being affected than females (12 of 42). Klopocki et al. (2012) suggested that the duplication on 17p could be seen as a susceptibility factor for SHFLD which is necessary but not sufficient for development of the malformation. Noting that 17p33.3 duplications have been described in patients with mental retardation and autistic manifestations (see 613215), Klopocki et al. (2012) stated that evaluation of the patients with duplications from this cohort revealed no autistic features or developmental delay. In the remainder of the initial 56-family SHFM cohort that underwent screening, 10q24 duplications (SHFM3; 246560) were detected in 11 (20%) of the families and TP63 (603273) mutations (SHFM4; 605289) in 5 (9%).
INHERITANCE \- Autosomal dominant SKELETAL Limbs \- Tibial aplasia and/or hypoplasia \- Distal femoral bifurcation (rare) Hands \- Ectrodactyly \- Monodactyly \- Oligodactyly \- Brachydactyly \- Syndactyly, third and fourth digits (in some patients) \- Camptodactyly, third and fourth digits (in some patients) Feet \- Clubfoot \- Pes varus \- Toe hypoplasia or aplasia \- Absent halluces MISCELLANEOUS \- Marked phenotypic variability, even within an individual \- Less than 50% penetrance in some families \- Minimum duplication includes BHLHA9 ( 615416 ) MOLECULAR BASIS \- Caused by duplication of 120-527kb on 17p13.3 ▲ Close
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME | c1861553 | 2,163 | omim | https://www.omim.org/entry/612576 | 2019-09-22T16:01:07 | {"mesh": ["C536425"], "omim": ["612576"], "orphanet": ["3329"], "synonyms": ["Alternative titles", "SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3"]} |
A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.
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*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
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| Necrotizing soft tissue infection | c2732890 | 2,164 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440368 | 2021-01-23T18:23:28 | {"icd-10": ["M72.6"], "synonyms": ["NSTI"]} |
Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.
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| Clear cell sarcoma of kidney | c0334488 | 2,165 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457246 | 2021-01-23T18:39:59 | {"icd-10": ["C64"], "synonyms": ["CCSK"]} |
Abortion in Bosnia and Herzegovina is legal on request during the first ten weeks of pregnancy. Between ten and twenty weeks, an abortion must be approved by a committee, and is permitted when the woman's life or health is threatened, when the fetus is severely impaired, when the pregnancy results from a crime, and for psychosocial reasons. In all cases, women must undergo counseling first. [1] After 20 weeks, abortion is only permitted to save the woman's life or health. Only persons who perform illegal abortions are criminally punishable, never the women who undergo them.[2]
The legal status of abortion is governed by a 2008 law;[1] previously, it was governed by the Law of 7 October 1977, made when Bosnia and Herzegovina was part of Yugoslavia.[2]
As of 2001[update], the abortion rate was 1.4 abortions per 1000 women aged 15-44 years, one of the lowest in Europe.[3] The government has expressed concern about the higher rate among adolescents.[2]
## Public opinion[edit]
In a Pew Research poll from 2017, the respondents from Bosnia and Hezegovina were evenly split between those who believed abortion should be legal in most cases (47%), and those who think it should be illegal in most cases (47%). However, there was a considerable divide between different ethnic and religious groups, with Catholics overwhelmingly against legal abortion (71%).[4]
## References[edit]
1. ^ a b "Law on the conditions and procedures for abortion, 20 March 2008" (in Bosnian). 20 March 2008. Retrieved 2 March 2014.
2. ^ a b c Abortion Policies: A Global Review (DOC). 2. United Nations Population Division. 2002. Retrieved 2 March 2014.
3. ^ "World Abortion Policies 2013". United Nations. 2013. Retrieved 3 March 2014.
4. ^ http://assets.pewresearch.org/wp-content/uploads/sites/11/2017/05/09154356/Central-and-Eastern-Europe-Topline_FINAL-FOR-PUBLICATION.pdf
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An imperforate lacrimal punctum is a congenital disorder of dogs involving the lack of an opening to the nasolacrimal duct (tear duct) in the conjunctiva. Dogs normally have two lacrimal puncta, the superior and inferior. This condition can affect either or both. Symptoms include excessive tearing and tear staining of the hair around the eye. Affected breeds include the American Cocker Spaniel, Bedlington Terrier, Golden Retriever, Poodle, and Samoyed.[1] Imperforate lacrimal puncta can be corrected by surgical opening of the punctum.
## See also[edit]
* Congenital lacrimal duct obstruction
## References[edit]
1. ^ Gelatt, Kirk N. (ed.) (1999). Veterinary Ophthalmology (3rd ed.). Lippincott, Williams & Wilkins. ISBN 978-0-683-30076-5.CS1 maint: extra text: authors list (link)
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Hypersensitivity pneumonitis
Farmer's lung
Hay shed
SpecialtyRespirology
Farmer's lung (not to be confused with silo-filler's disease) is a hypersensitivity pneumonitis induced by the inhalation of biologic dusts coming from hay dust or mold spores or any other agricultural products.[1] It results in a type III hypersensitivity inflammatory response and can progress to become a chronic condition which is considered potentially dangerous.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Prevention
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 References
* 8 External links
## Signs and symptoms[edit]
* Acute Stage: After four to eight hours symptoms such as headache, irritating cough, and shortness of breath upon physical exertion, appear.[3]
* Subacute Stage: Symptoms persist without further exposure, and increase in severity. Symptoms include: shortness of breath upon exertion, chronic coughing, physical weakness, occasional fever and sweating, decrease in appetite, aches and pains.[3]
* Chronic Stage: Debilitating effects are now considered long-term. Symptoms include: severe shortness of breath, chronic coughing, physical weakness, occasional fever and sweating at night, decrease in appetite, and general aches and pains.[3]
These symptoms develop between four and eight hours after exposure to the antigens. In acute attacks, the symptoms mimic pneumonia or flu. In chronic attacks, there is a possibility of the victim going into shock and dying from the attack.[4]
## Causes[edit]
Permanent lung damage can arise due to one's inability to recognize the cause of symptoms.[4] Farmer's lung occurs because repeated exposure to antigens, found in the mold spores of hay, crops, and animal feed, triggers an allergic reaction within the farmer's immune system.[4] The defense mechanisms of the body present as cold and flu-like symptoms that occur in individuals who experience either acute or chronic reactions.[4]
The mold spores are inhaled and provoke the creation of IgE antibodies that circulate in the bloodstream, these types of immune response are most often initiated by exposure to thermophilic actinomycetes (most commonly Saccharopolyspora rectivirgula), which generate IgG-type antibodies. Following a subsequent exposure, IgG antibodies combined with the inhaled allergen to form immune complexes in the walls of the alveoli in the lungs.[5] This causes fluid, protein, and cells to accumulate in the alveolar wall which slows blood-gas interchange and compromises the function of the lung. After multiple exposures, it takes less and less of the antigens to set off the reaction in the lung.[6]
## Prevention[edit]
Farmer's lung disease is permanent and cannot be reversed, therefore in order to prevent the onset of further stages, farmers should inform their doctor of their occupation and if they have mold in their work environment.[3] Prevention of this respiratory illness can be facilitated through the ventilation of work areas, drying of materials, and the use of a mask when working in confined areas with moldy hay or crops.[4]
## Diagnosis[edit]
Diagnoses of Farmer's lung is difficult due to its similarity to cold and flu-like symptoms.[7] Doctors diagnose patients with Farmer's lung under the following conditions:
* A clinical history of symptoms such as cough, fever, and labored breathing when exposed to mold in work environment.[7]
* The presence of diffuse lung disease in chronic cases.[7]
* Presentation of antibodies when exposed to thermophilic Actinomyctes.[7]
Examination procedures may include:
• taking a blood test[3]
• taking a chest x-ray[3]
• administering a breathing capacity test[3]
• administering an inhalation challenge[3]
• examining lung tissue[3]
• performing an immunological investigation[3]
• performing a lung function test[3]
• reviewing the clinical history [3]
## Treatment[edit]
Depending on the severity of the symptoms, FLD can last from one to two weeks, or they can last for the rest of one's life. Acute FLD has the ability to be treated because hypersensitivity to the antigens has not yet developed. The main treatment options are: rest and reducing the exposure to the antigens through masks and increased airflow in confined spaces where the antigens are present.[4] Any exposure to the antigens once hypersensitivity can set off another chronic reaction.[4] For chronic FLD, there are no true treatments because the patient has developed hypersensitivity meaning that their condition will last the rest of their life.
## Epidemiology[edit]
The growth of mold spores occurs when hay is not dried properly.[8] The growth of these mold spores accumulates over time and will infect the host upon release from the source.[9] When in the air, the farmer may inhale the particles and induce an allergic reaction.[9] The hay at risk for increased volumes of spores are found at the bottom of the pile.[9] The presence of Farmer's Lung Disease peaks during late winter and early spring and is mostly seen after the harvest season when symptoms have set in.[10] This disease is most prevalent in damp climates.[10]
## References[edit]
1. ^ Enelow RI (2008). Fishman's Pulmonary Diseases and Disorders (4th ed.). McGraw-Hill. pp. 1161–1172. ISBN 978-0-07-145739-2.
2. ^ "Farmer's Lung: It Takes Your Breath Away!". Farm Safety Association, Inc.
3. ^ a b c d e f g h i j k l Grisso R, Gay S, Hetzel G, Stone B (2009). "Farmer's Lung: Causes and Symptoms of Mold and Dust Induced Respiratory Illness" (PDF). Virginia Cooperative Extension: 4.
4. ^ a b c d e f g "National Ag Safety Database - National Ag Safety Database".
5. ^ Geha R, Rosen F (2008). Case studies in immunology : a clinical companion. Rosen, Fred S. (5th ed.). New York, N.Y.: Garland Science, Taylor and Francis Group. ISBN 9780815341451. OCLC 80460619.
6. ^ Kahn AP (2004). The encyclopedia of work-related illnesses, injuries, and health issues. New York, N.Y.: Facts on File. ISBN 9780816048441. OCLC 61131489.
7. ^ a b c d Reyes CN, Wenzel FJ, Lawton BR, Emanuel DA (February 1982). "The pulmonary pathology of farmer's lung disease". Chest. 81 (2): 142–6. doi:10.1378/chest.81.2.142. PMID 7035083.
8. ^ Dyer EL (March 1980). "Farmer's lung: industrial hazard for rural inhabitants". Southern Medical Journal. 73 (3): 353–61, 364. doi:10.1097/00007611-198003000-00024. PMID 7361144.
9. ^ a b c Dales RE, Munt PW (October 1982). "Farmer's Lung Disease". Canadian Family Physician. 28: 1817–20. PMC 2306727. PMID 21286564.
10. ^ a b Grant IW, Blyth W, Wardrop VE, Gordon RM, Pearson JC, Mair A (February 1972). "Prevalence of farmer's lung in Scotland: a pilot survey". British Medical Journal. 1 (5799): 530–4. doi:10.1136/bmj.1.5799.530. PMC 1787415. PMID 4501939.
## External links[edit]
Classification
D
* ICD-10: J67.0
* ICD-9-CM: 495.0
* MeSH: D005203
* DiseasesDB: 29636
External resources
* eMedicine: med/771
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trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
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Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
* v
* t
* e
Allergic conditions
Respiratory system
* Allergic rhinitis (hay fever)
* Asthma
* Hypersensitivity pneumonitis
* Eosinophilic pneumonia
* Eosinophilic granulomatosis with polyangiitis
* Allergic bronchopulmonary aspergillosis
* Farmer's lung
* Laboratory animal allergy
Skin
* Angioedema
* Urticaria
* Atopic dermatitis
* Allergic contact dermatitis
* Hypersensitivity vasculitis
Blood and immune system
* Serum sickness
Circulatory system
* Anaphylaxis
Digestive system
* Coeliac disease
* Eosinophilic gastroenteritis
* Eosinophilic esophagitis
* Food allergy
* Egg allergy
* Milk intolerance
Nervous system
* Eosinophilic meningitis
Genitourinary system
* Acute interstitial nephritis
Other conditions
* Drug allergy
* Allergic conjunctivitis
* Latex allergy
* v
* t
* e
Hypersensitivity and autoimmune diseases
Type I/allergy/atopy
(IgE)
Foreign
* Atopic eczema
* Allergic urticaria
* Allergic rhinitis (Hay fever)
* Allergic asthma
* Anaphylaxis
* Food allergy
* common allergies include: Milk
* Egg
* Peanut
* Tree nut
* Seafood
* Soy
* Wheat
* Penicillin allergy
Autoimmune
* Eosinophilic esophagitis
Type II/ADCC
* * IgM
* IgG
Foreign
* Hemolytic disease of the newborn
Autoimmune
Cytotoxic
* Autoimmune hemolytic anemia
* Immune thrombocytopenic purpura
* Bullous pemphigoid
* Pemphigus vulgaris
* Rheumatic fever
* Goodpasture syndrome
* Guillain–Barré syndrome
"Type V"/receptor
* Graves' disease
* Myasthenia gravis
* Pernicious anemia
Type III
(Immune complex)
Foreign
* Henoch–Schönlein purpura
* Hypersensitivity vasculitis
* Reactive arthritis
* Farmer's lung
* Post-streptococcal glomerulonephritis
* Serum sickness
* Arthus reaction
Autoimmune
* Systemic lupus erythematosus
* Subacute bacterial endocarditis
* Rheumatoid arthritis
Type IV/cell-mediated
(T cells)
Foreign
* Allergic contact dermatitis
* Mantoux test
Autoimmune
* Diabetes mellitus type 1
* Hashimoto's thyroiditis
* Multiple sclerosis
* Coeliac disease
* Giant-cell arteritis
* Postorgasmic illness syndrome
* Reactive arthritis
GVHD
* Transfusion-associated graft versus host disease
Unknown/
multiple
Foreign
* Hypersensitivity pneumonitis
* Allergic bronchopulmonary aspergillosis
* Transplant rejection
* Latex allergy (I+IV)
Autoimmune
* Sjögren syndrome
* Autoimmune hepatitis
* Autoimmune polyendocrine syndrome
* APS1
* APS2
* Autoimmune adrenalitis
* Systemic autoimmune disease
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Farmer's lung | c0015634 | 2,168 | wikipedia | https://en.wikipedia.org/wiki/Farmer%27s_lung | 2021-01-18T18:37:54 | {"gard": ["6427"], "mesh": ["D005203"], "umls": ["C0015634"], "orphanet": ["99906"], "wikidata": ["Q1396859"]} |
Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. People with the syndrome usually have large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas), and white papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People who have Cowden syndrome are at an increased risk of developing certain types of cancer, such as breast, thyroid, and endometrial (lining of the uterus) cancer. Most cases are caused by mutations in the PTEN gene and are inherited in an autosomal dominant manner.[8504] Management typically includes screening for associated tumors and/or prophylactic surgeries.
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Cowden syndrome | c0018553 | 2,169 | gard | https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome | 2021-01-18T18:01:04 | {"mesh": ["D006223"], "omim": ["158350"], "orphanet": ["201"], "synonyms": ["Cowden disease", "CD", "Cowden's disease", "CS", "Multiple hamartoma syndrome", "MHAM"]} |
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Isolated congenital adermatoglyphia | c1852150 | 2,170 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289465 | 2021-01-23T18:03:40 | {"gard": ["12550"], "mesh": ["C565010"], "omim": ["136000"], "icd-10": ["Q82.8"], "synonyms": ["Congenital absence of fingerprints", "Immigration delay disease"]} |
X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.
Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge.
People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.
## Frequency
The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature.
## Causes
X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSL gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.
Between 60 and 75 percent of males with the characteristic features of X-linked chondrodysplasia punctata 1 have a mutation in the ARSL gene. These mutations reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSL gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E. Researchers are working to determine how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.
Some people with the features of X-linked chondrodysplasia punctata 1 do not have an identified mutation in the ARSE gene or a deletion involving the gene. Other, as-yet-unidentified genetic and environmental factors may also be involved in causing this disorder.
### Learn more about the gene associated with X-linked chondrodysplasia punctata 1
* ARSL
## Inheritance Pattern
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the ARSL gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| X-linked chondrodysplasia punctata 1 | c1844853 | 2,171 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/ | 2021-01-27T08:24:59 | {"gard": ["1296"], "mesh": ["C535941"], "omim": ["302950"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that the amorph type of RH-null phenotype is caused by homozygous mutation in the RHCE gene (111700) on chromosome 1p36.
Description
The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type (268150) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene (180297). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD (111680) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by Huang et al., 1998, Huang et al., 2000).
Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion (Silvy et al., 2015).
Clinical Features
Seidl et al. (1972) reported 2 German sibs from a consanguineous family in whom Rh determination revealed complete lack of all Rh antigens. In the female sib, hemolytic anemia was detected during hospitalization for bronchopneumonia; a splenectomy was performed because of suspicion of a hereditary spherocytosis. Both she and her male sib reported several periods of jaundice which they attributed to stress situations (e.g., appendectomy, university graduation, business problems). These patients were later analyzed molecularly by Huang et al. (1998) and Cherif-Zahar et al. (1998).
In a survey of 42 examples of the Rh-null phenotype, Nash and Shojania (1987) found that only 5 were of the amorph type.
Perez-Perez et al. (1992) described a Spanish family in which a silent Rh gene was segregating, giving rise to the amorph type of Rh-null in the proposita whose parents were first cousins. She suffered from severe hemolytic anemia. Western blot analysis carried out with glycosylation-independent antibodies directed against the Rh polypeptide and the LW glycoprotein, respectively, confirmed that these protein components were absent from the red cells of the proposita.
Silvy et al. (2015) studied a 32-year-old pregnant woman from Libya with moderate hemolytic anemia and a history of 5 pregnancies with varying degrees of hemolytic disease of the fetus and newborn (HDFN). The fourth pregnancy resulted in stillbirth and the fifth fetus died in utero at 32 weeks' gestation despite a normal ultrasound at 30 weeks. Rh phenotyping revealed that her red blood cells lacked all common Rh antigens.
Molecular Genetics
In 2 German sibs with complete lack of all Rh antigens from a consanguineous family, Huang et al. (1998) and Cherif-Zahar et al. (1998) detected homozygosity for deletion of 2 nonadjacent nucleotides in exon 7 of the RHCE gene (111700.0003). The RHD gene was deleted.
In a Spanish patient previously reported by Perez-Perez et al. (1992), Cherif-Zahar et al. (1998) detected a homozygous splice site mutation at the donor site of intron 4 of the RHCE gene (IVS4+1G-T; 111700.0004). The RHD gene was deleted.
In a 23-year-old Caucasian Brazilian woman and her sister with Rh-null phenotype, Rosa et al. (2005) detected homozygosity for a 1-bp deletion in exon 7 of the RHCE gene (111700.0005). The RHD gene was absent in both sisters.
In a 32-year-old Libyan woman with Rh-null phenotype from a consanguineous family, Silvy et al. (2015) detected homozygosity for a 7-bp duplication (c.1044_1050dup; 111700.0006) in exon 7 of the RHCE gene. The RHD gene was deleted.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| RH-NULL, AMORPH TYPE | c0272052 | 2,172 | omim | https://www.omim.org/entry/617970 | 2019-09-22T15:44:12 | {"mesh": ["C562717"], "omim": ["617970"], "orphanet": ["71275"]} |
Plague is a severe bacterial infection caused by the Gram-negative bacterium Yersinia pestis.
## Epidemiology
It is extremely rare in Europe but still spreads in Africa and, to a lesser degree, in Asia and Latin America.
## Clinical description
There are two clinical forms of the disease: bubonic plague, characterized by painfully inflamed lymph nodes called "buboes'', an elevated temperature and an altered clinical state; and pulmonary plague which manifests itself as thoracic pain, a cough with bloody expectoration, an elevated temperature, an altered clinical state and consciousness disorders.
## Etiology
Plague is transmitted from animals to humans by fleas. Rodents are the reservoir for the disease. Plague is also transmitted between humans via the respiratory route.
## Diagnostic methods
Diagnosis is based on isolation of the bacterium in the bubo, blood or expectoration, or from serology.
## Management and treatment
Many classes of antibiotics are effective against Yersinia pestis (aminoglycosides, tetracyclines, cotrimoxazole, rifampicin, fluoroquinolones etc.).
## Prognosis
Without treatment, the course of the disease is rapidly fatal.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Plague | c0032064 | 2,173 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=707 | 2021-01-23T17:06:44 | {"mesh": ["D010930", "D015009"], "umls": ["C0032064", "C0043407"], "icd-10": ["A20.0", "A20.1", "A20.2", "A20.3", "A20.7", "A20.8", "A20.9"], "synonyms": ["Yersiniosis"]} |
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.
An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.
Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.
Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.
Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.
## Frequency
The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and classical forms are most common; the hypermobile type may affect as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few cases or affected families described in the medical literature.
## Causes
Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this type, the cause is unknown). The cardiac-valvular type and some cases of the arthrochalasia type are caused by COL1A2 gene mutations; mutations in the COL1A1 gene have also been found in people with the arthrochalasia type. Most cases of the vascular type result from mutations in the COL3A1 gene, although rarely this type is caused by certain COL1A1 gene mutations. The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. PLOD1 or FKBP14 gene mutations result in the kyphoscoliotic type. Other rare forms of Ehlers-Danlos syndrome result from mutations in other genes.
Some of the genes associated with the Ehlers-Danlos syndromes, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, FKBP14, PLOD1, and TNXB, provide instructions for making proteins that process, fold, or interact with collagen. Mutations in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These changes weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of the Ehlers-Danlos syndromes.
Some genes associated with recently described types of Ehlers-Danlos syndrome have functions that appear to be unrelated to collagen. For many of these genes, it is not clear how mutations lead to hypermobility, elastic skin, and other features of these conditions.
### Learn more about the genes associated with Ehlers-Danlos syndrome
* ADAMTS2
* COL1A1
* COL1A2
* COL3A1
* COL5A1
* COL5A2
* FKBP14
* PLOD1
* TNXB
Additional Information from NCBI Gene:
* AEBP1
* B3GALT6
* B4GALT7
* C1R
* C1S
* CHST14
* COL12A1
* DSE
* PRDM5
* SLC39A13
* ZNF469
## Inheritance Pattern
The inheritance pattern of the Ehlers-Danlos syndromes varies by type. The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new (de novo) gene mutations and occur in people with no history of the disorder in their family.
The classical-like, cardiac-valvular, dermatosparaxis, kyphoscoliotic, spondylodysplastic, and musculocontractural types of Ehlers-Danlos syndrome, as well as brittle cornea syndrome, are inherited in an autosomal recessive pattern. In autosomal recessive inheritance, two copies of a gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
The myopathic type of Ehlers-Danlos syndrome can have either an autosomal dominant or autosomal recessive pattern of inheritance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Ehlers-Danlos syndrome | c0268344 | 2,174 | medlineplus | https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/ | 2021-01-27T08:25:52 | {"gard": ["2084", "1019", "12613", "2088", "8507", "2089", "8508", "6322", "2081", "2083", "8486", "12474", "9991", "2082"], "mesh": ["C536192"], "omim": ["229200", "314400", "225310", "130060", "130090", "608763", "225320", "130000", "130010", "606408", "618000", "225410", "130020", "225400", "614557", "601776", "615539", "130080", "617174", "130070", "615349", "130050"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of familial primary hyperparathyroidism, see HRPT1 (145000).
Mapping
Warner et al. (2006) studied 10 pedigrees with familial isolated hyperparathyroidism, 9 of which were ascertained from families previously reported by Warner et al. (2004). Multipoint linkage from a genomewide screen of 7 families identified a region of suggestive linkage (lod score, 2.68) on chromosome 2. Fine mapping with the addition of 3 families revealed significant linkage adjacent to D2S2368 (maximum lod score, 3.43). Recombination events defined a 1.7-Mb region of linkage on chromosome 2p14-p13.3 between D2S2368 and D2S358 in 9 pedigrees.
Molecular Genetics
In 10 pedigrees with HRPT3, in which causative mutations in the MEN1 (613733), CASR (601199), and CDC73 (607393) genes had previously been excluded and in which fine mapping demonstrated linkage to chromosome 2p14-p13.3, Warner et al. (2006) sequenced the candidate genes, PPP3R1 (601302) and GPR73 (607122), but found no likely causative sequence variations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| HYPERPARATHYROIDISM 3 | c1864729 | 2,175 | omim | https://www.omim.org/entry/610071 | 2019-09-22T16:05:10 | {"doid": ["13543"], "mesh": ["C566450"], "omim": ["610071"], "orphanet": ["99879"], "synonyms": ["FIHPT"]} |
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death.
Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
## Frequency
The incidence of primary carnitine deficiency in the general population is approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every 40,000 newborns.
## Causes
Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.
### Learn more about the gene associated with Primary carnitine deficiency
* SLC22A5
## Inheritance Pattern
Primary carnitine deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder are carriers, which means they each carry one copy of the mutated gene. Carriers of SLC22A5 gene mutations may have some signs and symptoms related to the condition.
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Primary carnitine deficiency | c0342788 | 2,176 | medlineplus | https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency/ | 2021-01-27T08:25:10 | {"gard": ["5104"], "mesh": ["C536778"], "omim": ["212140"], "synonyms": []} |
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
## Epidemiology
DTs account for < 3% of soft tissue tumors. Their annual incidence is estimated to range between 1/250,000-1/500,000. They predominantly affect women and can occur between the ages of 15-60 years, but frequently during early adolescence and with a peak age of about 30 years.
## Clinical description
In principle, DTs can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Usually, they are firm and smooth palpable masses upon discovery. Depending on the location of the tumor, symptoms may include pain, fever, and functional impairment or loss of function of the organ involved. DTs may appear after surgical resections, typically after caesarian section. Intra-abdominal DTs are often observed in patients with an association of familial adenomatous polyposis (FAP) or Gardner syndrome (see these terms).
## Etiology
DTs result from the proliferation of well-differentiated myofibroblasts. The exact etiopathogenetic mechanism is still unknown, but they seem to have a multi-factorial origin with hormonal and genetic factors being involved. Somatic mutations in the CTNNB1 gene (3q21) encoding beta-catenin have been found in about 85 % of sporadic cases. In cases with FAP, DTs have been associated with mutations in the tumor suppressor gene APC (5q21-q22) encoding the adenomatous polyposis coli protein.
## Diagnostic methods
Initial diagnosis is based on imaging techniques (computed tomography and magnetic resonance imaging) revealing the presence of an infiltrative growing mass. Diagnosis is confirmed by tumor biopsy showing abundant collagen surrounding elongated spindle-shaped cells containing small and regular nuclei and pale cytoplasm. Immunohistological examination shows expression of muscle cell markers (e.g. actin, desmin, vimentine) and absence of CD34. Moreover, diagnosis can be confirmed by screening for mutations of CTNNB1.
## Differential diagnosis
The differential diagnosis is broad with fibrosarcomas on the one extreme and myofibroblastic processes such as nodular fasciitis and even hypertrophic scars and keloids on the other. The differential diagnosis of intra-abdominal DTs includes gastrointestinal stromal tumors, solitary fibrous tumors, inflammatory myofibroblastic tumors, sclerosing mesenteritis and retroperitoneal fibrosis (see these terms).
## Genetic counseling
Most cases are sporadic. Familial cases (5-10 %) are associated with FAP.
## Management and treatment
Complete surgical resection remains the therapeutic mainstay of DTs. For unresectable tumors or those not amenable to surgical resection with R0 (microscopic tumor clearance) intent or accompanied by an unacceptable function loss, non-surgical treatments comprise radiotherapy, anti-estrogen therapy, non-steroidal anti-inflammatory agents, chemotherapy (e.g. methotrexate, vinblastine/vinorelbine, pegylated liposomal doxorubicin) and/or tyrosine kinase inhibitors (e.g. imatinib, sorafenib). As DTs have a variable and often unpredictable clinical course, a period of watchful waiting is advisable for asymptomatic patients. As DTs often recur, a surveillance strategy every 3-6 months is essential.
## Prognosis
Local recurrence occurs in around 70 % of cases. Prognosis depends on the type of tumor. Life expectancy is normal for abdominal and extra-abdominal tumors. However, it is lower in cases of intra-abdominal DTs due to complications such as intestinal obstruction, hydronephrosis or sepsis. Repeated surgical resections are associated with a greater risk of morbidity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Desmoid tumor | c0079218 | 2,177 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=873 | 2021-01-23T18:44:27 | {"gard": ["1820"], "mesh": ["D018222"], "omim": ["135290"], "umls": ["C0079218"], "icd-10": ["D48.1"], "synonyms": ["Aggressive fibromatosis", "Desmoid type fibromatosis"]} |
Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Chromosome 7p duplication | c0795820 | 2,178 | gard | https://rarediseases.info.nih.gov/diseases/5355/chromosome-7p-duplication | 2021-01-18T18:01:20 | {"mesh": ["C537819"], "umls": ["C0795820"], "synonyms": ["Duplication 7p", "Trisomy 7p", "7p duplication", "7p trisomy", "Partial trisomy 7p"]} |
Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Serrated polyposis syndrome | c0236048 | 2,179 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157798 | 2021-01-23T17:17:10 | {"mesh": ["C562464"], "omim": ["175020", "617108"], "icd-10": ["D12.6"], "synonyms": ["Hyperplastic polyposis syndrome"]} |
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumors.
## Frequency
Rubinstein-Taybi syndrome is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns.
## Causes
Mutations in the CREBBP gene cause about half of cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essential for normal development before birth. Because one copy of the CREBBP gene is deleted or mutated in people with Rubinstein-Taybi syndrome, their cells make only half of the normal amount of CREB binding protein. A reduction in the amount of this protein disrupts normal development before and after birth. Abnormal brain development is thought to underlie intellectual disability in people with Rubinstein-Taybi syndrome. Researchers have not determined how CREBBP gene mutations lead to other signs and symptoms of Rubinstein-Taybi syndrome.
Mutations in the EP300 gene cause a small percentage of cases of Rubinstein-Taybi syndrome. Like the CREBBP gene, this gene provides instructions for making a protein that helps control the activity of other genes. It also appears to be important for development before and after birth. EP300 gene mutations result in the loss of one functional copy of the gene in each cell, which interferes with normal development and causes the typical features of Rubinstein-Taybi syndrome. The signs and symptoms of this disorder caused by EP300 gene mutations are typically milder than those caused by mutations in the CREBBP gene.
Several cases of severe Rubinstein-Taybi syndrome have resulted from a deletion of genetic material from the short (p) arm of chromosome 16. Multiple genes, including the CREBBP gene, are missing as a result of this deletion. Researchers believe that the loss of multiple genes in this region probably accounts for the serious complications associated with severe Rubinstein-Taybi syndrome. Some researchers suggest that these cases are a separate condition called chromosome 16p13.3 deletion syndrome. However, a few studies indicate that some people with large deletions in the same region of chromosome 16 have characteristic features of Rubinstein-Taybi syndrome rather than a more severe condition.
Nearly 30 to 40 percent of people with Rubinstein-Taybi syndrome do not have an identified mutation in the CREBBP or EP300 gene or a chromosome 16 deletion. The cause of the condition is unknown in these cases. Researchers predict that mutations in other genes can also cause the disorder.
### Learn more about the genes and chromosome associated with Rubinstein-Taybi syndrome
* CREBBP
* EP300
* chromosome 16
## Inheritance Pattern
This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Rubinstein-Taybi syndrome | c4551859 | 2,180 | medlineplus | https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome/ | 2021-01-27T08:25:05 | {"gard": ["7593"], "omim": ["180849", "613684"], "synonyms": []} |
Type of blood cancer
Waldenström's macroglobulinemia
Other namesLymphoplasmacytic lymphoma
SpecialtyHematology and oncology
Waldenström's macroglobulinemia (/ˈvældənstrɛmz ˌmækroʊˌɡlɒbjələˈniːmiə/;[1][2] WM) is a type of cancer affecting two types of B cells: lymphoplasmacytoid cells and plasma cells. Both cell types are white blood cells. WM is characterized by having high levels of a circulating antibody, immunoglobulin M (IgM), which is made and secreted by the cells involved in the disease. WM is an "indolent lymphoma" (i.e., one that tends to grow and spread slowly) and a type of lymphoproliferative disease which shares clinical characteristics with the indolent non-Hodgkin lymphomas.[3] WM is commonly classified as a form of plasma cell dyscrasia, similar to other plasma cell dyscrasias that, for example, lead to multiple myeloma, WM is commonly preceded by two clinically asymptomatic but progressively more pre-malignant phases, IgM monoclonal gammopathy of undetermined significance (i.e. IgM MGUS) and smoldering Waldenström macroglobulinemia. The WM spectrum of dysplasias differs from other spectrums of plasma cell dyscrasias in that it involves not only aberrant plasma cells but also aberrant lymphoplasmacytoid cells and that it involves IgM while other plasma dyscrasias involve other antibody isoforms.[4][5]
WM is a rare disease, with only about 1,500 cases per year in the United States. WM occurs more frequently in older adults.[6] While the disease is incurable, it is treatable. Because of its indolent nature, many patients are able to lead active lives, and when treatment is required, may experience years of symptom-free remission.[7]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 5.1 Watchful waiting
* 5.2 First-line
* 5.3 Salvage therapy
* 5.4 Drug pipeline
* 5.5 Patient stratification
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 Research
* 10 See also
* 11 References
## Signs and symptoms[edit]
Signs and symptoms of WM include weakness, fatigue, weight loss, and chronic oozing of blood from the nose and gums.[8] Peripheral neuropathy occurs in 10% of patients. Enlargement of the lymph nodes, spleen, and/or liver are present in 30–40% of cases.[9] Other possible signs and symptoms include blurring or loss of vision, headache, and (rarely) stroke or coma.[citation needed]
## Causes[edit]
Waldenström macroglobulinemia is characterized by an uncontrolled clonal proliferation of terminally differentiated B lymphocytes. The most commonly associated mutations, based on whole-genome sequencing of 30 patients, are a somatic mutation in MYD88 (90% of patients) and a somatic mutation in CXCR4 (27% of patients).[10] An association has been demonstrated with the locus 6p21.3 on chromosome 6.[11] There is a two- to threefold increased risk of WM in people with a personal history of autoimmune diseases with autoantibodies, and a particularly elevated risk associated with liver inflammation, human immunodeficiency virus, and rickettsiosis.[12]
There are genetic factors, with first-degree relatives of WM patients shown to have a highly increased risk of also developing the disease.[13] There is also evidence to suggest that environmental factors, including exposure to farming, pesticides, wood dust, and organic solvents, may influence the development of WM.[14]
### Genetics[edit]
Although believed to be a sporadic disease, studies have shown increased susceptibility within families, indicating a genetic component.[15][16] A mutation in gene MYD88 has been found to occur frequently in patients.[17] WM cells show only minimal changes in cytogenetic and gene expression studies. Their miRNA signature however differs from their normal counterpart. It is therefore believed that epigenetic modifications play a crucial role in the disease.[18]
Comparative genomic hybridization identified the following chromosomal abnormalities: deletions of 6q23 and 13q14, and gains of 3q13-q28, 6p and 18q.[19] FGFR3 is overexpressed.[20] The following signalling pathways have been implicated:
* CD154/CD40[21]
* Akt[22]
* ubiquitination, p53 activation, cytochrome c release[23]
* NF-κB[24][25]
* WNT/beta-catenin[26]
* mTOR[27]
* ERK[24]
* MAPK[28]
* Bcl-2[29]
The protein Src tyrosine kinase is overexpressed in Waldenström macroglobulinemia cells compared with control B cells.[30] Inhibition of Src arrests the cell cycle at phase G1 and has little effect on the survival of WM or normal cells.
MicroRNAs involved in Waldenström's:[31][32]
* increased expression of miRNAs-363*,[33] -206,[34] -494,[35] -155,[36] -184,[37] -542–3p.[38]
* decreased expression of miRNA-9*.[39]
MicroRNA-155 regulates the proliferation and growth of WM cells in vitro and in vivo, by inhibiting MAPK/ERK, PI3/AKT, and NF-κB pathways.
In WM-cells, histone deacetylases and histone-modifying genes are de-regulated.[40]Bone marrow tumour cells express the following antigen targets CD20 (98.3%), CD22 (88.3%), CD40 (83.3%), CD52 (77.4%), IgM (83.3%), MUC1 core protein (57.8%), and 1D10 (50%).[41]
## Pathophysiology[edit]
Symptoms include blurring or loss of vision, headache, and (rarely) stroke or coma are due to the effects of the IgM paraprotein, which may cause autoimmune phenomenon or cryoglobulinemia. Other symptoms of WM are due to the hyperviscosity syndrome, which is present in 6–20% of patients.[42][43][44][45] This is attributed to the IgM monoclonal protein increasing the viscosity of the blood by forming aggregates to each other, binding water through their carbohydrate component and by their interaction with blood cells.[46]
## Diagnosis[edit]
A diagnosis of Waldenström macroglobulinemia depends on a significant monoclonal IgM spike evident in blood tests and malignant cells consistent with the disease in bone marrow biopsy samples.[47] Blood tests show the level of IgM in the blood and the presence of proteins, or tumor markers, that are the key signs of WM. A bone marrow biopsy provides a sample of bone marrow, usually from the lower back of the pelvis bone. The sample is extracted through a needle and examined under a microscope. A pathologist identifies the particular lymphocytes that indicate WM. Flow cytometry may be used to examine markers on the cell surface or inside the lymphocytes.[48]
Additional tests such as computed tomography (CT or CAT) scan may be used to evaluate the chest, abdomen, and pelvis, particularly swelling of the lymph nodes, liver, and spleen. A skeletal survey can help distinguish between WM and multiple myeloma.[48] Anemia is typically found in 80% of patients with WM. A low white blood cell count, and low platelet count in the blood may be observed. A low level of neutrophils (a specific type of white blood cell) may also be found in some individuals with WM.[47]
Chemistry tests include lactate dehydrogenase (LDH) levels, uric acid levels, erythrocyte sedimentation rate (ESR), kidney and liver function, total protein levels, and an albumin-to-globulin ratio. The ESR and uric acid level may be elevated. Creatinine is occasionally elevated and electrolytes are occasionally abnormal. A high blood calcium level is noted in approximately 4% of patients. The LDH level is frequently elevated, indicating the extent of Waldenström macroglobulinemia–related tissue involvement. Rheumatoid factor, cryoglobulins, direct antiglobulin test and cold agglutinin titre results can be positive. Beta-2 microglobulin and C-reactive protein test results are not specific for Waldenström's macroglobulinemia. Beta-2 microglobulin is elevated in proportion to tumor mass. Coagulation abnormalities may be present. Prothrombin time, activated partial thromboplastin time, thrombin time, and fibrinogen tests should be performed. Platelet aggregation studies are optional. Serum protein electrophoresis results indicate evidence of a monoclonal spike but cannot establish the spike as IgM. An M component with beta-to-gamma mobility is highly suggestive of Waldenström's macroglobulinemia. Immunoelectrophoresis and immunofixation studies help identify the type of immunoglobulin, the clonality of the light chain, and the monoclonality and quantitation of the paraprotein. High-resolution electrophoresis and serum and urine immunofixation are recommended to help identify and characterize the monoclonal IgM paraprotein.The light chain of the monoclonal protein is usually the kappa light chain. At times, patients with Waldenström macroglobulinemia may exhibit more than one M protein. Plasma viscosity must be measured. Results from characterization studies of urinary immunoglobulins indicate that light chains (Bence Jones protein), usually of the kappa type, are found in the urine. Urine collections should be concentrated.Bence Jones proteinuria is observed in approximately 40% of patients and exceeds 1 g/d in approximately 3% of patients. Patients with findings of peripheral neuropathy should have nerve conduction studies and antimyelin associated glycoprotein serology.[citation needed]
Criteria for diagnosis of Waldenström macroglobulinemia include:
1. IgM monoclonal gammopathy that excludes chronic lymphocytic leukemia and Mantle cell lymphoma
2. Evidence of anemia, constitutional symptoms, hyperviscosity, swollen lymph nodes, or enlargement of the liver and spleen that can be attributed to an underlying lymphoproliferative disorder.[49]
## Treatment[edit]
There is no single accepted treatment for WM.[50] There is marked variation in clinical outcome due to gaps in knowledge of the disease's molecular basis. Objective response rates are high (> 80%) but complete response rates are low (0–15%).[51] The medication ibrutinib targets the MYD88 L265P mutation induced activation of Bruton's tyrosine kinase.[52] In a cohort study of previously treated patients, ibrutinib induced responses in 91% of patients, and at 2 years 69% of patients had no progression of disease and 95% were alive.[53] Based on this study, the Food and Drug Administration approved ibrutinib for use in WM in 2015.[54]
There are different treatment flowcharts: Treon[55] and mSMART.[56]
WM patients are at higher risk of developing second cancers than the general population, but it is not yet clear whether treatments are contributory.[57]
### Watchful waiting[edit]
In the absence of symptoms, many clinicians will recommend simply monitoring the patient;[58] Waldenström himself stated "let well do" for such patients. These asymptomatic cases are now classified as two successively more pre-malignant phases, IgM monoclonal gammopathy of undetermined significance (i.e. IgM MGUS) and smoldering Waldenström's macroglobulinemia.[4][5]
But on occasion, the disease can be fatal, as it was to the French president Georges Pompidou, who died in office in 1974. Mohammad Reza Shah Pahlavi, the Shah of Iran, also suffered from Waldenström macroglobulinemia, which resulted in his ill-fated trip to the United States for therapy in 1979, leading to the Iran hostage crisis.[59]
### First-line[edit]
Should treatment be started it should address both the paraprotein level and the lymphocytic B-cells.[60]
In 2002, a panel at the International Workshop on Waldenström's Macroglobulinemia agreed on criteria for the initiation of therapy. They recommended starting therapy in patients with constitutional symptoms such as recurrent fever, night sweats, fatigue due to anemia, weight loss, progressive symptomatic lymphadenopathy or spleen enlargement, and anemia due to bone marrow infiltration. Complications such as hyperviscosity syndrome, symptomatic sensorimotor peripheral neuropathy, systemic amyloidosis, kidney failure, or symptomatic cryoglobulinemia were also suggested as indications for therapy.[61]
Treatment includes the monoclonal antibody rituximab, sometimes in combination with chemotherapeutic drugs such as chlorambucil, cyclophosphamide, or vincristine or with thalidomide.[62] Corticosteroids, such as prednisone, may also be used in combination. Plasmapheresis can be used to treat the hyperviscosity syndrome by removing the paraprotein from the blood, although it does not address the underlying disease.[63] Ibrutinib is another agent that has been approved for use in this condition. Combination treatment with Ibrutinib and Rituximab showed significantly higher disease progression free survival than with just Rituximab treatment.[64]
Recently, autologous bone marrow transplantation has been added to the available treatment options.[65][66][67][68]
### Salvage therapy[edit]
When primary or secondary resistance invariably develops, salvage therapy is considered. Allogeneic stem cell transplantation can induce durable remissions for heavily pre-treated patients.[69]
### Drug pipeline[edit]
As of October 2010, there have been a total of 44 clinical trials on Waldenström macroglobulinemia, excluding transplantation treatments. Of these, 11 were performed on previously untreated patients, 14 in patients with relapsed or refractory Waldenström's.[70] A database of clinical trials investigating Waldenström's macroglobulinemia is maintained by the National Institutes of Health in the US.[71]
### Patient stratification[edit]
Patients with polymorphic variants (alleles) FCGR3A-48 and -158 were associated with improved categorical responses to rituximab-based treatments.[72]
## Prognosis[edit]
Current medical treatments result in survival of some longer than 10 years; in part this is because better diagnostic testing means early diagnosis and treatments. Older diagnosis and treatments resulted in published reports of median survival of approximately 5 years from time of diagnosis.[3] Currently, median survival is 6.5 years.[73] In rare instances, WM progresses to multiple myeloma.[74]
The International Prognostic Scoring System for Waldenström’s Macroglobulinemia (IPSSWM) is a predictive model to characterise long-term outcomes.[75][76] According to the model, factors predicting reduced survival[77] are:
* Age > 65 years
* Hemoglobin ≤ 11.5 g/dL
* Platelet count ≤ 100×109/L
* B2-microglobulin > 3 mg/L
* Serum monoclonal protein concentration > 70 g/L
The risk categories are:
* Low: ≤ 1 adverse variable except age
* Intermediate: 2 adverse characteristics or age > 65 years
* High: > 2 adverse characteristics
Five-year survival rates for these categories are 87%, 68% and 36%, respectively.[78] The corresponding median survival rates are 12, 8, and 3.5 years.[79]
The IPSSWM has been shown to be reliable.[80] It is also applicable to patients on a rituximab-based treatment regimen.[78] An additional predictive factor is elevated serum lactate dehydrogenase (LDH).[81]
## Epidemiology[edit]
Of all cancers involving the lymphocytes, 1% of cases are WM.[82]
WM is a rare disorder, with fewer than 1,500 cases occurring in the United States annually.[3] The median age of onset of WM is between 60 and 65 years, with some cases occurring in late teens.[3][9]
## History[edit]
WM was first described by Jan G. Waldenström (1906–1996) in 1944 in two patients with bleeding from the nose and mouth, anemia, decreased levels of fibrinogen in the blood (hypofibrinogenemia), swollen lymph nodes, neoplastic plasma cells in bone marrow, and increased viscosity of the blood due to increased levels of a class of heavy proteins called macroglobulins.[83]
For a time, WM was considered to be related to multiple myeloma because of the presence of monoclonal gammopathy and infiltration of the bone marrow and other organs by plasmacytoid lymphocytes. The new World Health Organization (WHO) classification, however, places WM under the category of lymphoplasmacytic lymphomas, itself a subcategory of the indolent (low-grade) non-Hodgkin lymphomas.[84] In recent years, there have been significant advances in the understanding and treatment of WM.[51]
## Research[edit]
One recent investigation showed that a population of cells, lacking both B-cell and plasma cell markers, has characteristics of cancer-initiating cells in Waldenström's macroglobulinemia.[85]
## See also[edit]
* List of hematologic conditions
* Waldenström hyperglobulinemic purpura
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72. ^ Treon, S. P.; Yang, G.; Hanzis, C.; Ioakimidis, L.; Verselis, S. J.; Fox, E. A.; Xu, L.; Hunter, Z. R.; Tseng, H.; Manning, R. J.; Patterson, C. J.; Sheehy, P.; Turnbull, B. (2011). "Attainment of complete/very good partial response following rituximab-based therapy is an important determinant to progression-free survival, and is impacted by polymorphisms in FCGR3A in Waldenstrom macroglobulinaemia". British Journal of Haematology. 154 (2): 223–228. doi:10.1111/j.1365-2141.2011.08726.x. PMID 21564078.
73. ^ Waldenstrom Macroglobulinemia at eMedicine
74. ^ Johansson B, Waldenstrom J, Hasselblom S, Mitelman F (1995). "Waldenstrom's macroglobulinemia with the AML/MDS-associated t(1;3)(p36;q21)". Leukemia. 9 (7): 1136–8. PMID 7630185.
75. ^ Morel P, Duhamel A, Gobbi P, Dimopoulos M, Dhodapkar M, McCoy J, et al. International Prognostic Scoring System for Waldenström’s Macroglobulinemia. XIth International Myeloma Workshop & IVth International Workshop on Waldenstrom's Macroglobulinemia 25 30 June 2007 Kos Island, Greece. Haematologica 2007;92(6 suppl 2):1–229.
76. ^ Kastritis, E.; Kyrtsonis, M.; Hadjiharissi, E.; Symeonidis, A.; Michalis, E.; Repoussis, P.; Tsatalas, C.; Michael, M.; Sioni, A.; Kartasis, Z.; Stefanoudaki, E.; Voulgarelis, M.; Delimpasi, S.; Gavriatopoulou, M.; Koulieris, E.; Gika, D.; Zomas, A.; Roussou, P.; Anagnostopoulos, N.; Economopoulos, T.; Terpos, E.; Zervas, K.; Dimopoulos, M. A.; Greek Myeloma Study, G. (2010). "Validation of the International Prognostic Scoring System (IPSS) for Waldenstrom's macroglobulinemia (WM) and the importance of serum lactate dehydrogenase (LDH)". Leukemia Research. 34 (10): 1340–1343. doi:10.1016/j.leukres.2010.04.005. PMID 20447689.
77. ^ N.B. The article refers to them as "adverse covariates".
78. ^ a b Dimopoulos, M.; Kastritis, E.; Delimpassi, S.; Zomas, A.; Kyrtsonis, M.; Zervas, K. (2008). "The International Prognostic Scoring System for Waldenstrom's macroglobulinemia is applicable in patients treated with rituximab-based regimens". Haematologica. 93 (9): 1420–1422. doi:10.3324/haematol.12846. PMID 18641029.
79. ^ "Survival Rates for Waldenstrom Macroglobulinemia".
80. ^ Hivert, B.; Tamburini, J.; Vekhoff, A.; Tournilhac, O.; Leblond, V.; Morel, P. (2011-03-10). "Prognostic value of the International Scoring System and response in patients with advanced Waldenström macroglobulinemia". Haematologica. 96 (5): 785–788. doi:10.3324/haematol.2010.029140. PMC 3084930. PMID 21393333.
81. ^ Dhodapkar, M.; Hoering, A.; Gertz, M.; Rivkin, S.; Szymonifka, J.; Crowley, J.; Barlogie, B. (2009). "Long-term survival in Waldenstrom macroglobulinemia: 10-year follow-up of Southwest Oncology Group-directed intergroup trial S9003". Blood. 113 (4): 793–796. doi:10.1182/blood-2008-07-172080. PMC 2630265. PMID 18931340.
82. ^ Turgeon, Mary Louise (2005). Clinical hematology: theory and procedures. Hagerstown, MD: Lippincott Williams & Wilkins. p. 283. ISBN 978-0-7817-5007-3. "Frequency of lymphoid neoplasms. (Source: Modified from WHO Blue Book on Tumour of Hematopoietic and Lymphoid Tissues. 2001, p. 2001.)"
83. ^ Waldenstrom J (1944). "Incipient myelomatosis or "essential" hyperglobulinemia with fibrinognenopenia-a new syndrome?". Acta Med Scand. 117 (3–4): 216–247. doi:10.1111/j.0954-6820.1944.tb03955.x.
84. ^ Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J, Lister TA, Bloomfield CD (2000). "The World Health Organization classification of neoplastic diseases of the haematopoietic and lymphoid tissues: Report of the Clinical Advisory Committee Meeting, Airlie House, Virginia, November 1997". Histopathology. 36 (1): 69–86. doi:10.1046/j.1365-2559.2000.00895.x. PMID 10632755.
85. ^ Wada N (Jan 2014). "Characterization of subpopulation lacking both B-cell and plasma cell markers in Waldenstrom macroglobulinemia cell line". Lab. Invest. 94 (1): 79–88. doi:10.1038/labinvest.2013.129. PMID 24189269.
Classification
D
* ICD-10: C88.0
* ICD-9-CM: 273.3
* ICD-O: M9761/3
* OMIM: 153600
* MeSH: D008258
* DiseasesDB: 14030
External resources
* MedlinePlus: 000588
* eMedicine: med/2395
* v
* t
* e
Leukaemias, lymphomas and related disease
B cell
(lymphoma,
leukemia)
(most CD19
* CD20)
By
development/
marker
TdT+
* ALL (Precursor B acute lymphoblastic leukemia/lymphoma)
CD5+
* naive B cell (CLL/SLL)
* mantle zone (Mantle cell)
CD22+
* Prolymphocytic
* CD11c+ (Hairy cell leukemia)
CD79a+
* germinal center/follicular B cell (Follicular
* Burkitt's
* GCB DLBCL
* Primary cutaneous follicle center lymphoma)
* marginal zone/marginal zone B-cell (Splenic marginal zone
* MALT
* Nodal marginal zone
* Primary cutaneous marginal zone lymphoma)
RS (CD15+, CD30+)
* Classic Hodgkin lymphoma (Nodular sclerosis)
* CD20+ (Nodular lymphocyte predominant Hodgkin lymphoma)
PCDs/PP
(CD38+/CD138+)
* see immunoproliferative immunoglobulin disorders
By infection
* KSHV (Primary effusion)
* EBV
* Lymphomatoid granulomatosis
* Post-transplant lymphoproliferative disorder
* Classic Hodgkin lymphoma
* Burkitt's lymphoma
* HCV
* Splenic marginal zone lymphoma
* HIV (AIDS-related lymphoma)
* Helicobacter pylori (MALT lymphoma)
Cutaneous
* Diffuse large B-cell lymphoma
* Intravascular large B-cell lymphoma
* Primary cutaneous marginal zone lymphoma
* Primary cutaneous immunocytoma
* Plasmacytoma
* Plasmacytosis
* Primary cutaneous follicle center lymphoma
T/NK
T cell
(lymphoma,
leukemia)
(most CD3
* CD4
* CD8)
By
development/
marker
* TdT+: ALL (Precursor T acute lymphoblastic leukemia/lymphoma)
* prolymphocyte (Prolymphocytic)
* CD30+ (Anaplastic large-cell lymphoma
* Lymphomatoid papulosis type A)
Cutaneous
MF+variants
* indolent: Mycosis fungoides
* Pagetoid reticulosis
* Granulomatous slack skin
aggressive: Sézary disease
* Adult T-cell leukemia/lymphoma
Non-MF
* CD30-: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma
* Pleomorphic T-cell lymphoma
* Lymphomatoid papulosis type B
* CD30+: CD30+ cutaneous T-cell lymphoma
* Secondary cutaneous CD30+ large-cell lymphoma
* Lymphomatoid papulosis type A
Other
peripheral
* Hepatosplenic
* Angioimmunoblastic
* Enteropathy-associated T-cell lymphoma
* Peripheral T-cell lymphoma not otherwise specified (Lennert lymphoma)
* Subcutaneous T-cell lymphoma
By infection
* HTLV-1 (Adult T-cell leukemia/lymphoma)
NK cell/
(most CD56)
* Aggressive NK-cell leukemia
* Blastic NK cell lymphoma
T or NK
* EBV (Extranodal NK-T-cell lymphoma/Angiocentric lymphoma)
* Large granular lymphocytic leukemia
Lymphoid+
myeloid
* Acute biphenotypic leukaemia
Lymphocytosis
* Lymphoproliferative disorders (X-linked lymphoproliferative disease
* Autoimmune lymphoproliferative syndrome)
* Leukemoid reaction
* Diffuse infiltrative lymphocytosis syndrome
Cutaneous lymphoid hyperplasia
* Cutaneous lymphoid hyperplasia
* with bandlike and perivascular patterns
* with nodular pattern
* Jessner lymphocytic infiltrate of the skin
General
* Hematological malignancy
* leukemia
* Lymphoproliferative disorders
* Lymphoid leukemias
* v
* t
* e
Immunoproliferative immunoglobulin disorders
PCDs/PP
* Plasmacytoma
* Multiple myeloma (Plasma cell leukemia)
* MGUS
* IgM (Macroglobulinemia/Waldenström's macroglobulinemia)
* heavy chain (Heavy chain disease)
* light chain (Primary amyloidosis)
Other hypergammaglobulinemia
* Cryoglobulinemia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Waldenström's macroglobulinemia | c0334633 | 2,181 | wikipedia | https://en.wikipedia.org/wiki/Waldenstr%C3%B6m%27s_macroglobulinemia | 2021-01-18T19:04:16 | {"gard": ["7872"], "mesh": ["D008258"], "umls": ["C0334633"], "orphanet": ["33226"], "wikidata": ["Q1778287"]} |
3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features.
Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. Most have delayed development of language skills as well as motor skills such as crawling and walking. While affected individuals learn to walk in childhood, their language ability usually remains limited. Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction.
The physical signs and symptoms of 3p deletion syndrome vary greatly. Many affected individuals have slow growth, an abnormally small head (microcephaly), a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). Other frequent features include skin folds covering the inner corner of the eyes (epicanthal folds), extra fingers or toes (polydactyly), and an opening in the roof of the mouth (cleft palate). Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects.
## Frequency
3p deletion syndrome is likely a rare disorder; at least 30 cases have been described in the scientific literature.
## Causes
3p deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3. The size of the deletion varies among affected individuals, ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million DNA building blocks (11 megabases or 11 Mb). The deletion can include between 4 and 71 known genes. In some individuals, the deletion involves material near the end of the chromosome but does not include the tip (the telomere).
The signs and symptoms related to 3p deletion syndrome result from the loss of genes in the 3p region. It is difficult to determine which genes may be responsible for which specific features of 3p deletion syndrome because of the variability in both the size of the deletion and in the signs and symptoms of the condition among affected individuals. Multiple genes at the end of chromosome 3 appear to play a role in neurological development, but because not all people with 3p deletion syndrome are missing the same genes, it is difficult to pinpoint which ones influence the cognitive symptoms. It is likely that the loss of multiple genes contribute to the different physical abnormalities.
### Learn more about the chromosome associated with 3p deletion syndrome
* chromosome 3
## Inheritance Pattern
Most cases of 3p deletion syndrome are not inherited. The deletion occurs in one chromosome, most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. In these cases, affected people have no history of the disorder in their family.
In rare cases, 3p deletion syndrome is inherited, usually from a mildly affected parent. The deletion can also be inherited from an unaffected parent who carries a chromosomal rearrangement between chromosome 3 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation have a chromosomal rearrangement with extra or missing genetic material. Individuals with 3p deletion syndrome associated with an unbalanced translocation are missing genetic material from the short arm of chromosome 3, which results in the signs and symptoms of this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| 3p deletion syndrome | c0795806 | 2,182 | medlineplus | https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/ | 2021-01-27T08:25:30 | {"gard": ["3750", "37"], "mesh": ["C536804"], "omim": ["613792"], "synonyms": []} |
## Description
Persistent polyclonal B-cell lymphocytosis (PPBL) is characterized by chronic, stable, persistent, and polyclonal lymphocytosis, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum IgM. It is significantly associated with cigarette smoking (summary by Cornet et al., 2009).
Clinical Features
Persistent polyclonal B-cell lymphocytosis was described by Gordon et al. (1982) and Mossafa et al. (1999) as a rare and presumably benign peripheral proliferative disorder diagnosed predominantly in women. Patients, usually cigarette smokers, presented with persistent polyclonal lymphocytosis of B-cell origin. The lymphoid cell population was composed mostly of atypical lymphocytes with abundant cytoplasm and mature nuclei and binucleated lymphocytes. Elevated polyclonal serum IgM was found in all patients, and there was a close association with the HLA-DR7 allele. Although a patient with PPBL who developed a diffuse large-cell lymphoma had been reported (Roy et al., 1998), association between the 2 disorders is not clear.
To determine possible genetic predisposition to PPBL, Delage et al. (2001) studied the large family of a patient with PPBL. Among the first-degree relatives, 3 individuals presented all the criteria for the diagnosis of PPBL. A slight increase in serum IgM without evidence of B-cell proliferation was found in 2 additional sibs. Multiple bcl2/Ig gene rearrangements were identified in 8 of 10 individuals among first-degree relatives. A statistically significant association was found between the presence of these rearrangements and a paternal HLA haplotype. Delage et al. (2001) noted that the presence of bcl2/Ig gene rearrangements in normal individuals increases with age and heavy smoking. In their family, bcl2/Ig gene rearrangements were found in 9 (56%) of 16 cigarette-smoking individuals but in only 1 (9%) of 11 nonsmoking relatives. Delage et al. (2001) concluded that PPBL has a familial occurrence based on a genetic difference. A contributing factor, such as cigarette smoking, appeared to be involved.
Cornet et al. (2009) reported the long-term follow-up of 111 patients with PPBL, including 91 (82%) women and 20 men. Most (98%) were smokers and were either asymptomatic or had minor nonspecific complaints, such as fatigue. Peripheral blood smear showed binucleated lymphocytes, polyclonal B-cell expansion, and increased IgM. Conventional cytogenetic analysis showed isochromosome i(3q) in 34% of patients, premature chromosome condensation in 8% of patients, and both abnormalities in 31% of patients. Fluorescence in situ hybridization (FISH) in 84 cases showed isochromosome 1(3q) in 71%. The majority (89%) of patients had a stable clinical and biologic course after a median follow-up of 4.4 years. Four patients had asymptomatic monoclonal gammopathy of undetermined significance (MGUS), 2 developed pulmonary cancer, 1 developed cervical cancer, and 2 developed non-Hodgkin lymphoma. Cornet et al. (2009) questioned whether PPBL should be considered a benign pathology, and suggested that patients should be followed.
Lesesve et al. (2014) studied peripheral blood smears of 26 patients with PPBL, 50% of whom had isochromosome i(3q) and 60% of whom had HLA-DR7. Binucleated lymphocytes were detected in all patients, and tended to be medium-sized with a moderately abundant basophilic cytoplasm, sometimes vacuolated. The chromatin was mature in an asymmetrically bilobed nucleus showing 1 to 2 nucleoli.
INHERITANCE \- Autosomal dominant IMMUNOLOGY \- B-cell lymphocytosis, B-cell, polyclonal \- Increased IgM levels, polyclonal \- Binucleated lymphocytes MISCELLANEOUS \- Adult-onset \- Increased prevalence among women \- Increased prevalence among smokers ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS | c1847973 | 2,183 | omim | https://www.omim.org/entry/606445 | 2019-09-22T16:10:27 | {"mesh": ["C564707"], "omim": ["606445"], "orphanet": ["300324"]} |
A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-9 (LCA9) is caused by homozygous or compound heterozygous mutation in the NMNAT1 gene (608700) on chromosome 1p36.
For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000).
Description
Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 (608700) mutations consistently cause severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012).
Clinical Features
Koenekoop et al. (2012) reexamined affected individuals from 8 families with Leber congenital amaurosis in whom they had identified mutations in the NMNAT1 gene (608700), which is ubiquitously expressed (see MOLECULAR GENETICS). All individuals with biallelic NMNAT1 mutations had severe LCA but otherwise normal physical and mental health. However, in addition to the typical LCA phenotype of nystagmus, severe loss of vision, and abnormal electroretinogram (ERG), all patients were found to have a peculiar, prominent retinal feature termed 'macular coloboma,' which consists of an atrophic lesion in the central retina with a pigmented border, signifying complete loss of neural tissue in the fovea, including photoreceptors, bipolar cells, and ganglion cells. The remainder of the retina was abnormal as well, with pigmentary changes, attenuated retinal blood vessels, and optic disc pallor. In addition, other layers of the retina, such as the ganglion cell layer, were also severely affected. Based on these findings, Koenekoop et al. (2012) suggested that NMNAT1 mutations are associated with severe and rapid foveal degeneration.
Chiang et al. (2012) reported an 8-year-old Canadian boy of western European ancestry with compound heterozygous mutations in the NMNAT1 gene (see 608700.0003) that were inherited from his unaffected mother and father, respectively. Both parents had normal ERGs; 1 parent had midperiphery pigmentary mottling of uncertain significance. In the proband, horizontal nystagmus and poor vision were noted at 2 months of age; examination at 6 months showed hypopigmented macular lesions and he was diagnosed as having a variant of LCA. At 5 years of age, a chin-down head position was adopted, and colors were seen well. Bilateral atrophic macular lesions (colobomas) with outer hyperpigmented borders were noted. By 7 years of age, night vision had become poor. Examination revealed that the atrophic hyperpigmented macular lesion had increased in size, and retinal vasculature had become attenuated; the visual field was approximately 145 degrees. ERG showed primarily dysfunction of the cone system, with slightly delayed rod-cone b-wave implicit times. All photopic responses were reduced in amplitude and isolated cone b-waves and 30-Hz flicker responses were delayed. At 8 years of age, distance visual acuity was 20/200 and 20/400 in the right and left eyes, respectively, with near vision of 20/100 bilaterally; the visual field had decreased to 95 degrees, and colors were still perceived. His diagnosis was revised to 'cone-rod dystrophy' rather than LCA. Ten additional patients with mutations in NMNAT1 who were studied by Chiang et al. (2012) had severe LCA, with a mottled appearance in the peripheral retina and atrophic macular coloboma-like lesions.
Perrault et al. (2012) studied affected individuals from 22 LCA families with homozygous or compound heterozygous mutations in the NMNAT1 gene and observed a consistent phenotype, characterized by severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period. In addition, there was an unusual early-onset atrophy of the optic nerve. Perrault et al. (2012) noted that pseudocoloboma and optic atrophy were not present at birth in patients with NMNAT1 mutations, but rather arose through the progressive yet rapid degeneration of central photoreceptors and retinal ganglion cells. Because studies in Drosophila with retina-specific nmnat knock-out demonstrated that light exposure triggered the loss of photoreceptor cells (Zhai et al., 2006), and the central retina receives most of the photons entering the eye, Perrault et al. (2012) suggested that strict protection against light at birth in patients with NMNAT1-associated LCA might slow the retinal lesions.
Mapping
Keen et al. (2003) reported a large consanguineous Pakistani family in which 11 members had Leber congenital amaurosis that did not show linkage to known LCA loci. By a whole genome linkage analysis, they found significant positive lod scores (multipoint lod = 3.5) at chromosome 1p36, between markers D1S1612 and D1S3669. When consanguineous loops within the pedigree were included in the analysis, they obtained a 3-point lod score of 4.4 between markers D1S2667 and D1S1597. The novel LCA locus, designated LCA9, was located approximately 7 to 14 Mb from the telomere. By direct sequencing and SSCP analysis, Keen et al. (2003) found no mutations in the RBP7 gene (608604).
Molecular Genetics
In 50 individuals with Leber congenital amaurosis who did not have mutations in the known LCA-associated genes, Koenekoop et al. (2012) performed whole-exome sequencing and identified compound heterozygosity for missense mutations in the NMNAT1 gene in 3 patients, all of whom carried an E257K mutation (608700.0002) in combination with another missense mutation (see, e.g., 608700.0003-608700.0005). Analysis of NMNAT1 in another 150 LCA patients revealed homozygous or compound heterozygous mutations in 4 more patients (see, e.g., 608700.0006 and 608700.0007), 2 of whom also had at least 1 E257K allele. In addition, Koenekoop et al. (2012) sequenced the NMNAT1 gene in the large Pakistani family with LCA mapping to 1p36 that was originally reported by Keen et al. (2003), and identified a homozygous read-through mutation (X280Q; 608700.0001). The mutations segregated with disease in each of the families, and none were found in 200 controls. Genotyping of surrounding SNPs and haplotype analysis confirmed that all individuals of European descent carrying E257K shared the same haplotype, strongly suggesting that this represents a founder mutation.
In a patient with LCA who was negative for mutation in 17 known LCA-associated genes, Chiang et al. (2012) performed whole-exome sequencing and identified compound heterozygosity for a missense and a nonsense mutation in the NMNAT1 gene (E257K, 608700.0002; W169X, 608700.0006). The mutations were confirmed by Sanger sequencing and found to segregate with disease in the patient's family. Sequencing NMNAT1 in 50 additional unrelated LCA cases with no mutations in known LCA genes revealed 10 more cases with compound heterozygous mutations in NMNAT1 (see, e.g., 608700.0002-608700.0004 and 608700.0006). All 11 patients carried the E257K mutation as 1 of their 2 variant alleles. Chiang et al. (2012) noted that 4 patients who also carried the nonsense allele W169X were blind at birth, whereas in the 5 patients who carried only missense variants, vision decreased within a few years after birth. The retinas of all affected individuals had a mottled aspect in the periphery and atrophic macular coloboma-like lesions; the macular lesions were observed to enlarge over time in 2 patients.
By exome sequencing in a consanguineous Pakistani pedigree in which 3 sibs and 2 cousins had LCA, Falk et al. (2012) identified a homozygous missense mutation in the NMNAT1 gene (V9M; 608700.0009) that segregated with disease. Sequencing NMNAT1 in 284 unrelated families with LCA identified 14 mutations in 13 additional probands, including 6 who carried the E257K mutation on 1 allele. Review of available clinical information in mutation-positive LCA patients indicated that the majority had atrophic macular lesions.
Perrault et al. (2012) performed whole-exome resequencing in 5 French index LCA cases without mutations in known LCA genes and identified compound heterozygosity for mutations in the NMNAT1 gene that segregated with disease in each family and were not found in 200 controls. Sanger sequencing of NMNAT1 coding exon and intron-exon boundaries in 256 additional index cases without mutations in known LCA genes revealed another 20 cases with homozygous (608700.0006) or compound heterozygous mutations (see, e.g., 608700.0002 and 608700.0005). Seven probands in whom only a single heterozygous NMNAT1 mutation was found presented an identical phenotype to that of patients in whom 2 mutations were identified, suggesting that the former harbored a second undetected NMNAT1 mutant allele. The most common mutation identified was the E257K variant, which was present on 1 allele in 23 of the 29 index cases with mutation in NMNAT1.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Severe loss of vision \- Nystagmus \- Hyperopia \- Photophobia (in some patients) \- Night blindness (in some patients) \- Oculodigital reflex (in some patients) \- Macular coloboma \- Pigmentary changes in retina, including mottling and clumping \- Bone spicule pigmentation (rare) \- Attenuation of retinal blood vessels \- Optic disc pallor \- Optic nerve atrophy \- Retinal pigment epithelium atrophy peripherally \- Severe photoreceptor dystrophy involving both rods and cones seen on electroretinography MISCELLANEOUS \- Visual impairment is present at birth and is progressive MOLECULAR BASIS \- Caused by mutation in the nicotinamide nucleotide adenylyltransferase-1 gene (NMNAT1, 608700.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| LEBER CONGENITAL AMAUROSIS 9 | c0339527 | 2,184 | omim | https://www.omim.org/entry/608553 | 2019-09-22T16:07:41 | {"doid": ["0110005"], "mesh": ["D057130"], "omim": ["608553"], "orphanet": ["65"], "genereviews": ["NBK531510"]} |
A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-1 (RTPS1) is caused by heterozygous germline mutation in the SMARCB1 gene (601607) on chromosome 22q11.
Somatic mutations in the SMARCB1 gene are also found in atypical teratoid and rhabdoid (AT/RT) tumors.
Description
The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).
Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).
### Genetic Heterogeneity of Rhaboid Tumor Predisposition Syndrome
See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13.
Clinical Features
Bonnin et al. (1984) described 7 patients with rhabdoid tumors of the kidney who had CNS tumors that differed in their histology. Weeks et al. (1989) reported on a series of 111 cases of which 13.5% with renal rhabdoid tumors had a CNS malignancy.
Burger et al. (1998) reported on a pediatric oncology group study of 55 patients with atypical teratoid/rhabdoid tumors of the central nervous system. The aim of the study was to define the clinical and pathologic features. The lesion occurred primarily in children younger than 2 years. The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. The neoplasms showed striking polyphenotypic immunoreactivity. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of patients was uniformly poor.
Sevenet et al. (1999) reported 3 unrelated families in which sibs had multiple cases of aggressive malignant tumors of the central nervous system, including malignant rhabdoid tumors, atypical teratoid and rhabdoid tumors, choroid plexus carcinomas, and medulloblastoma. All had onset at less than 3 years of age.
Taylor et al. (2000) reported a multigenerational family with RTPS. The proband presented at age 18 months with a cerebellar malignant rhabdoid tumor. The mother of the proband was completely healthy, but a maternal uncle had died at age 2 years from a posterior fossa choroid plexus carcinoma. A sib of the maternal grandfather had died in infancy from a disease process consistent with a pediatric brain tumor.
Swensen et al. (2009) reported a family with hereditary schwannomatosis (162091) spanning 4 generations associated with a germline duplication in the SMARCB1 gene (601607.0009). Affected individuals developed painful skin lumps in their teenage years. Two family members with mutations had malignant rhabdoid tumors, and a third was believed to have a rhabdoid tumor. These 3 patients all died before 2 years of age. Two rhabdoid tumors and several schwannomas showed somatic loss of the SMARCB1 gene. Swensen et al. (2009) noted that this was the first reported case of familial occurrence of both conditions.
Mapping
Biegel et al. (1996) sublocalized a rhabdoid tumor locus to the region between the constant region genes of the immunoglobulin lambda locus (see 147220) and BCR (151410) in a 500-kb span of 22q11.
Cytogenetics
Biegel et al. (1990) described monosomy 22 in 3 rhabdoid tumors of the CNS, and Biegel et al. (1992) reported a rhabdoid tumor with an unbalanced 9;22 translocation leading to loss of 22q11.2-qter. Douglass et al. (1990) reported a CNS tumor with monosomy 22; Muller et al. (1995) reported on a rhabdoid tumor of the pineal region with monosomy 22.
Using a probe for chromosome 22, Burger et al. (1998) found that 7 of 8 scorable cases of atypical teratoid/rhabdoid tumors of the CNS showed a solitary signal by FISH, consistent with monosomy 22. The eighth scorable case showed 3 signals by FISH and had a translocation involving chromosome 22 reported by conventional cytogenetics.
Misawa et al. (2004) observed a translocation t(1;22) with concurrent deletion of 22q11.2 resulting in homozygous deletion of the SNF5 (SMARCB1) gene in a newly established cell line derived from an extrarenal rhabdoid tumor. The patient was a 5-month-old boy who was found to have a thoracic mass without metastases at the time of diagnosis. Cytogenetic analysis of peripheral lymphocytes demonstrated a normal male karyotype. Combined total resection, chemotherapy, and radiation therapy led to apparent cure by the age of 4 years.
Molecular Genetics
### Germline Mutations in the SMARCB1 Gene
In affected members of 3 different families with the rhabdoid predisposition syndrome, Sevenet et al. (1999) identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., 601607.0003). Tumor tissue, when available, showed somatic loss of heterozygosity (LOH) at the SMARCB1 locus. In all tested cases, DNA from parents demonstrated normal SNF5/INI1 sequences, thereby indicating the de novo occurrence of the mutations, which were shown to involve the maternal allele in 1 case and the paternal allele in 2 other cases. The data indicated that constitutional mutation of this gene predisposes to renal or extrarenal MRT and also to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor.
In a multigenerational family with RTPS, Taylor et al. (2000) identified a heterozygous splice site mutation of the SMARCB1 gene (601607.0004), predicted to cause a truncation of the protein. The unaffected mother of the proband also carried the mutation.
### Somatic Mutations in the SMARCB1 Gene
Versteege et al. (1998) mapped the most frequently deleted part of chromosome 22q11.2 from a panel of 13 cell lines from malignant rhabdoid tumors and observed 6 homozygous deletions that delineated the smallest region of overlap, which fell in the region of the SNF5/INI1 gene. Analysis of 12 of these lines showed somatic frameshift or nonsense mutations in the SMARCB1 gene (see, e.g., 601607.0001; 601607.0002). All were associated with loss of heterozygosity (LOH) at the other allele, consistent with the 2-hit recessive model of oncogenesis and consistent with the hypothesis that SNF5/INI1 is the MRT tumor suppressor gene. Versteege et al. (1998) noted that the SWI/SNF complexes, which have been identified in organisms from yeast to humans, are thought to be important in the remodeling of chromatin structure, and the authors concluded that altered chromatin organization at specific DNA sites may be crucial in the process of oncogenesis.
INHERITANCE \- Autosomal dominant NEOPLASIA \- Rhabdoid tumors, malignant (renal or extrarenal) \- Atypical teratoid tumors \- Choroid plexus carcinoma \- Medulloblastoma MISCELLANEOUS \- Increased risk of developing multiple primary cancers \- Early age of onset, usually less than 3 years \- Aggressive malignancies MOLECULAR BASIS \- Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, 601607.0001 ) ▲ Close
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| RHABDOID TUMOR PREDISPOSITION SYNDROME 1 | c0206743 | 2,185 | omim | https://www.omim.org/entry/609322 | 2019-09-22T16:06:15 | {"doid": ["2129"], "mesh": ["D018335"], "omim": ["609322"], "orphanet": ["69077", "99966", "231108"], "synonyms": ["Alternative titles", "BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL"], "genereviews": ["NBK469816"]} |
A number sign (#) is used with this entry because piebaldism can be caused by heterozygous mutation in the KIT protooncogene (164920) on chromosome 4q12.
There is also evidence that piebaldism can be caused by heterozygous mutation in the gene encoding the zinc finger transcription factor SNAI2 (602150) on chromosome 8q11.
Description
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
Clinical Features
Sundfor (1939) described a family in which many persons had a white forelock, often with unpigmented patches on the forehead, limbs, and other areas of the body.
Loewenthal (1959) assigned the name albinoidism to a dominantly inherited condition characterized by a white 'blaze' in the scalp hair, usually the forelock, and/or patches of leukoderma. Epitheliomas occurred with increased frequency. The designation albinoidism is better reserved for the recessive condition simulating true albinism.
Comings and Odland (1966) found the trait in 6 generations. A genetic defect in melanoblast differentiation was postulated.
The statement that deafness does not occur in persons with the piebald trait as a pleiotropic effect of the gene may not be true. Reed et al. (1967) noted profound deafness with piebaldism in 2 patients. Some of the patients of Comings and Odland (1966) were deaf.
Winship et al. (1991) described 7 affected persons in 3 generations. Two other affected individuals were deceased. The disorder seemed distinct from Waardenburg syndrome (193500). White forelock and patches of leukoderma occur also in Waardenburg syndrome and in Fanconi anemia (227650).
From India, Mahakrishnan and Srinivasan (1980) reported Hirschsprung disease in 2 brothers who had piebaldness (white forelock, patches of depigmentation over the upper third of the forearms and the lower part of the arms, diffuse hypopigmentation of the abdomen and chest, and heterochromia iridis); their father had a white forelock also.
Hulten et al. (1987) reported a presumed homozygote; the severely affected child was born to heterozygous parents. He had complete absence of hair and pigmentation and had blue irides.
Richards et al. (2001) described a mother and her 8-year-old daughter with a phenotype of typical piebaldism but with progressive depigmentation.
Inheritance
Piebaldism is an autosomal dominant disorder (Thomas et al., 2004).
Keeler (1934) described a Louisiana black family in which piebaldism could be traced back to a woman born in 1853.
Selmanowitz et al. (1977) published a pedigree with at least 10 affected persons in 4 generations.
Farag et al. (1992) described a Bedouin kindred with 19 affected persons in 5 generations.
Mapping
Lyon (1988) pointed out that the location of the W locus on mouse chromosome 5 supports the location of a piebald trait gene on chromosome 4 of man since there is a large, conserved synteny group on those chromosomes of the 2 species. Geissler et al. (1988) identified cloned DNA markers near the W locus and determined the genetic distance from a number of other loci.
A piebaldism locus in man was mapped to chromosome 4q by the identification of causative mutations in the KIT gene (Giebel and Spritz, 1991).
Cytogenetics
Funderburk and Crandall (1974) reported a 3-year-old boy with moderate mental retardation, short stature, and integumentary pigment changes typical of the autosomal dominant piebald syndrome. The patient's chromosomes showed a reciprocal translocation and an intercalary deletion of one chromosome 4. Lacassie et al. (1977) found a similar case that illustrated the association of piebald trait with interstitial deletion of the long arm of chromosome 4 (4q13). The deleted segment was adjacent to centromeric heterochromatin, raising the question of position effect.
Hoo et al. (1986) described a case of de novo deletion in 4q and pointed out that several of the patients with comparable deletions have had abnormal skin pigmentation compatible with the piebald trait. Further analysis suggested that the piebald trait locus may be situated in band 4q12.
Yamamoto et al. (1989) reported piebald trait in a child with de novo interstitial deletion of 4q, specifically 4q12-q21.1. Other features included mental and motor retardation despite normal somatic growth, aplasia cutis of the scalp, flat nasal root and tip, micrognathia, widely spaced nipples, and agenesis of the right kidney.
In a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4)(q12q21.1) karyotype, Spritz et al. (1992) identified deletion of both the KIT and the PDGFRA (173490) genes. The patient was hemizygous for the 2 deleted genes.
Molecular Genetics
In a patient with classic autosomal dominant piebaldism, Giebel and Spritz (1991) identified heterozygosity for a missense mutation in the KIT gene (G664R; 164920.0001) that was not found in 40 controls. Genetic linkage analysis of the mutation in the proband's family, which could trace its inheritance for 15 generations, yielded a lod score of 6.02 at theta = 0.0.
Fleischman et al. (1991) analyzed the KIT gene in 7 unrelated patients with piebaldism and identified heterozygous deletion of KIT in 1 patient (164920.0002).
In affected individuals from 3 unrelated families with piebaldism, Spritz et al. (1992) identified heterozygosity for a missense mutation (F584L; 164920.0003) and 2 frameshift mutations (164920.0004; 164920.0005), respectively, in the KIT gene.
In 1 of 10 unrelated individuals with piebaldism, Fleischman (1992) identified a missense mutation in the KIT gene (E583K; 164920.0006).
In affected individuals from 2 large families segregating autosomal dominant piebaldism, Spritz et al. (1992) identified heterozygosity for a frameshift mutation (164920.0007) and a splice site mutation (164920.0008), respectively.
In a South African girl of Xhosa ancestry who had severe piebaldism and profound congenital sensorineural deafness, Spritz and Beighton (1998) identified a heterozygous missense mutation in the KIT gene (R796G; 164920.0016). Her mother and brother were reported to be similarly affected, but were not available for study.
In a Japanese mother and daughter with piebaldism, Nomura et al. (1998) identified heterozygosity for a missense mutation in the KIT gene (T847P; 164920.0019).
In affected individuals from 2 families and a sporadic patient with piebaldism, Syrris et al. (2000) identified 3 different missense mutations in the KIT gene (see, e.g., 164920.0022).
In a mother and daughter with progressive piebaldism, including total hair depigmentation in the mother, Richards et al. (2001) identified heterozygosity for a missense mutation in the KIT gene (V620A; 164920.0025). The mutation was not found in family members with a localized patch of white hair without depigmentation, or in 52 controls.
In a mother and her 8-year-old daughter, both of whom had a phenotype of typical piebaldism but with progressive depigmentation, including total hair pigmentation in the mother, Richards et al. (2001) identified heterozygosity for a novel mutation in the intracellular tyrosine kinase domain of the KIT gene (V630A; 164920.0025). The authors speculated that the mutation may cause melanocyte instability, leading to progressive loss of pigmentation as well as the progressive appearance of hyperpigmented macules.
### SNAI2 Mutations
In 3 of 17 unrelated patients with piebaldism who had no 'apparent' mutations in the KIT protooncogene, Sanchez-Martin et al. (2003) identified a heterozygous deletion of the SNAI2 gene (602150.0002). Two of the patients were sporadic cases and the other had 2 affected sibs and an affected daughter; all parents were nonconsanguineous and unaffected.
Genotype/Phenotype Correlations
The severity of the clinical phenotype in patients with piebaldism correlates with the site of the mutation with the KIT gene. The most severe mutations tend to be dominant-negative missense mutations involving the intracellular tyrosine kinase domain. Mutations leading to an intermediate severity phenotype have largely been located at or near the transmembrane region, regardless of whether they are missense, nonsense, or frameshift mutations. Mutations leading to the mildest phenotype occur in the N-terminal extracellular ligand-binding domain with resultant haploinsufficiency (summary by Richards et al., 2001).
Animal Model
In mice, aganglionic megacolon is associated with the piebald trait (Bielschowsky and Schofield, 1962), inherited probably as an autosomal recessive.
History
George Catlin (1796-1872), painter of the American Indians, painted an affected Mandan Indian. Multiple members of the group were said to have been affected.
Eyes \- Heterochromia iridis Inheritance \- Autosomal dominant (4q11-q12) Oncology \- Frequent epitheliomas Skin \- Piebaldism \- White forelock \- Absent pigmentation of medial forehead, eyebrows and chin \- Absent pigmentation of ventral chest, abdomen and limbs \- Hyperpigmented borders of unpigmented areas GI \- Rare Hirschsprung disease Ears \- Occasional deafness ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
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| PIEBALD TRAIT | c0080024 | 2,186 | omim | https://www.omim.org/entry/172800 | 2019-09-22T16:36:16 | {"doid": ["3263"], "mesh": ["D016116"], "omim": ["172800"], "icd-10": ["E70.39"], "orphanet": ["2884"], "synonyms": ["Alternative titles", "PIEBALDISM"]} |
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
## Epidemiology
The estimated birth prevalence for PBD-ZSS is 1/50,000 in North America and 1/500,000 in Japan. More than half of patients with PBD-ZSS have the NALD-IRD forms.
## Clinical description
NALD has an onset at birth or early infancy, but manifestations may be subtle enough that it is not diagnosed until late infancy or early childhood (or when a leukodystrophy develops). It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface), failure to thrive and severely delayed psychomotor development. Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts. Hepatic dysfunction is first displayed in infants with jaundice and later in some with episodes of intracranial bleeding due to vitamin K-responsive coagulopathy. Adrenal insufficiency and renal calcium oxalate stones can present in older children. Vision and hearing dysfunction are progressive and result in blindness and deafness. Osteoporosis and fractures can occur in patients who are less mobile. Neurological regression reflects a leukodystrophy, leading to the loss of previously acquired skills, dementia and ultimately death.
## Etiology
PBD-ZSS is caused by mutations in one of 13 PEX genes encoding peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis.
## Diagnostic methods
NALD is suspected on physical examination and confirmed with biochemical evaluation. Plasma very-long-chain fatty acid (VLCFA) levels indicate defects in peroxisomal fatty acid metabolism with elevated plasma concentrations of C26:0 and C26:1 and elevated ratios of C24/C22 and C26/C22. Erythrocyte membrane concentrations of plasmalogens C16 and C18 are reduced. Plasma pipecolic acid levels and bile acid intermediates (THCH and DHCA) are increased. Sequence analysis of the 13 PEX genes can be performed. MRI can be used to identify leukodystrophy, neuronal migration defects or other brain malformations.
## Differential diagnosis
The main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures, liver dysfunction or leukodystrophy. X-linked adrenoleukodystrophy (see this term) should not be confused with NALD.
## Antenatal diagnosis
Prenatal screening of cultured amniocytes and chorionic villus sampling for VLCFA and plasmalogen synthesis is possible. If both disease causing alleles in parents have been identified, prenatal diagnosis can be performed as well as preimplantation genetic diagnosis.
## Genetic counseling
NALD is inherited in an autosomal recessive manner so genetic counseling is possible.
## Management and treatment
There is no cure for NALD and treatment is symptomatic. Cataracts should be removed in early infancy and glasses used to improve vision. Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound. Hepatic coagulopathy can be treated with vitamin K supplementation and liver function may improve with primary bile acid therapy. A gastrostomy tube may be necessary to allow for adequate calorie intake. Foods rich in phytanic acid (such as cow's milk) should be restricted. Docosahexanoic acid can be provided. Standard epileptic drugs are used for seizures. Lifelong follow up is needed to monitor changes in hearing, vision and liver function.
## Prognosis
Prognosis is poor with most patients dying in infancy and early childhood. Some have lived until their teenage years.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Neonatal adrenoleukodystrophy | c0282525 | 2,187 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=44 | 2021-01-23T18:30:10 | {"gard": ["559"], "mesh": ["D018901"], "omim": ["202370", "266510", "601539", "614863", "614867", "614871", "614873", "614877", "614885", "614920", "617370"], "umls": ["C0282525"], "icd-10": ["E71.3"], "synonyms": ["NALD"]} |
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Transitional cell carcinoma
Other namesUrothelial carcinoma
Histopathology of transitional carcinoma of the urinary bladder. Transurethral biopsy. Hematoxylin and eosin stain.
SpecialtyOncology
Transitional cell carcinoma, also called urothelial carcinoma, is a type of cancer that typically occurs in the urinary system. It is the most common type of bladder cancer and cancer of the ureter, urethra, and urachus. It accounts for 95% of bladder cancer cases.[1][2]
It is the second most common type of kidney cancer, but accounts for only five to 10 percent of all primary renal malignant tumors.[3]
Transitional cell carcinomas arise from the transitional epithelium, a tissue lining the inner surface of these hollow organs.[4]
When the term "urothelial" is used, it specifically refers to a carcinoma of the urothelium, meaning a transitional cell carcinomas of the urinary system.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathology
* 4 Diagnosis
* 4.1 Classification
* 5 Treatment
* 5.1 Localized/early transitional cell carcinomas of bladder
* 5.2 Advanced or metastatic transitional cell carcinomas
* 6 Prostate
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Signs and symptoms of transitional cell carcinomas depend on the location and extent of the cancer.[citation needed]
## Causes[edit]
Urothelial carcinoma is a prototypical example of a malignancy arising from environmental carcinogenic influences. By far the most important cause is cigarette smoking, which contributes to approximately one-half of the disease burden. Chemical exposure, such as those sustained by workers in the petroleum industry, the manufacture of paints and pigments (e.g., aniline dyes), and agrochemicals are known to predispose one to urothelial cancer. The risk is lowered by increased liquid consumption, presumably as a consequence of increased urine production and thus less dwell time on the urothelial surface. Conversely, risk is increased among long-haul truck drivers and others in whom long urine dwell-times are encountered. As with most epithelial cancers, physical irritation has been associated with increased risk of malignant transformation of the urothelium. Thus, urothelial carcinomas are more common in the context of chronic urinary stone disease, chronic catheterization (as in patients with paraplegia or multiple sclerosis), and chronic infections. Some particular examples are listed below:
1. Certain drugs, such as cyclophosphamide, via the metabolites acrolein and phenacetin, may predispose to the development of transitional cell carcinomas (the latter especially with respect to the upper urinary tract).[5]
2. Radiation exposure
3. Somatic mutation, such as deletion of chromosome 9q, 9p, 11p, 17p, 13q, 14q and overexpression of RAS (oncogene) and epidermal growth factor receptor (EGFR).
## Pathology[edit]
Transitional cell carcinomas are often multifocal, with 30–40% of patients having more than one tumor at diagnosis. The pattern of growth of transitional cell carcinomas can be papillary, sessile, or carcinoma in situ. The most common site of transitional cell carcinoma metastasis outside the pelvis is bone (35%); of these, 40 percent are in the spine.[6]
## Diagnosis[edit]
Bladder diverticula containing stones. Also note that the bladder wall is thickened due to possible transitional cell carcinoma.
Transitional refers to the histological subtype of the cancerous cells as seen under a microscope.
### Classification[edit]
Transitional cell carcinomas are mostly papillary (70%,[1] and 30% non-papillary).[1]
The 1973 WHO grading system for transitional cell carcinomas (papilloma, G1, G2 or G3) is most commonly used despite being superseded by the 2004 WHO[7] grading for papillary types (papillary neoplasm of low malignant potential [PNLMP], low grade, and high grade papillary carcinoma).
* Papillary transitional cell carcinoma, low grade
* Histopathology of urothelial carcinoma of the urinary bladder, showing a nested pattern of invasion. Transurethral biopsy. Hematoxylin and eosin.
* Histopathology of urothelial carcinoma of the urinary bladder.
* Histopathology of urothelial carcinoma of the urinary bladder.
* Micrograph of urethral urothelial cell carcinoma. Hematoxylin and eosin stain.
## Treatment[edit]
### Localized/early transitional cell carcinomas of bladder[edit]
Transitional cell carcinomas can be very difficult to treat. Treatment for localized stage transitional cell carcinomas is surgical resection of the tumor, but recurrence is common. Some patients are given mitomycin into the bladder either as a one-off dose in the immediate post-operative period (within 24 hrs) or a few weeks after the surgery as a six dose regimen.
Localized/early transitional cell carcinomas can also be treated with infusions of Bacille Calmette–Guérin into the bladder. These are given weekly for either 6 weeks (induction course) or 3 weeks (maintenance/booster dose). Side effects include a small chance of developing systemic tuberculosis or the patient becoming sensitized to BCG, causing severe intolerance and a possible reduction in bladder volume due to scarring.
In patients with evidence of early muscular invasion, radical curative surgery in the form of a cysto-prostatectomy usually with lymph node sampling can also be performed. In such patients, a bowel loop is often used to create either a "neo-bladder" or an "ileal conduit" which act as a place for the storage of urine before it is evacuated from the body either via the urethra or a urostomy respectively.
### Advanced or metastatic transitional cell carcinomas[edit]
First-line chemotherapy regimens for advanced or metastatic transitional cell carcinomas consists of gemcitabine and cisplatin) or a combination of methotrexate, vinblastine, adriamycin, and cisplatin.[8]
Taxanes or vinflunine have been used as second-line therapy (after progression on a platinum containing chemotherapy).[9]
Immunotherapy such as pembrolizumab is often used as second-line therapy for metastatic urothelial carcinoma that has progressed despite treatment with GC or MVAC.[10]
In May 2016 FDA granted accelerated approval to atezolizumab for locally advanced or metastatic urothelial carcinoma treatment after failure of cisplatin-based chemotherapy.[11] The confirmatory trial (to convert the accelerated approval into a full approval) failed to achieve its primary endpoint of overall survival.[12]
## Prostate[edit]
Transitional cell carcinomas can also be associated with the prostate.[13][14]
## See also[edit]
* Transitional cell carcinoma of the ovary
* Bladder cancer in cats and dogs
## References[edit]
1. ^ a b c Andreassen, B. K.; Aagnes, B.; Gislefoss, R.; Andreassen, M.; Wahlqvist, R. (2016). "Incidence and Survival of urothelial carcinoma of the urinary bladder in Norway 1981-2014". BMC Cancer. 16 (1). doi:10.1186/s12885-016-2832-x. ISSN 1471-2407.
2. ^ "Types of Bladder Cancer: TCC & Other Variants". CancerCenter.com. Retrieved 2018-08-10.
3. ^ "Kidney Cancer - Introduction". Cancer.Net. 2012-06-25. Retrieved 2019-12-02.
4. ^ "transitional cell carcinoma" at Dorland's Medical Dictionary
5. ^ Colin P, Koenig P, Ouzzane A, Berthon N, Villers A, Biserte J, Roupret M (November 2009). "Environmental factors involved in carcinogenesis of urothelial cell carcinomas of the upper urinary tract". BJU International. 104 (10): 1436–40. doi:10.1111/j.1464-410X.2009.08838.x. PMID 19689473.
6. ^ Punyavoravut V, Nelson SD (August 1999). "Diffuse bony metastasis from transitional cell carcinoma of urinary bladder: a case report and review of literature". Journal of the Medical Association of Thailand. 82 (8): 839–43. PMID 10511795.
7. ^ Sauter G, Algaba F, Amin MB, Busch C, Cheville J, Gasser T, Grignon D, Hofstaedter F, Lopez-Beltran A, Epstein JI. Noninvasive urothelial neoplasias: WHO classification of noninvasive papillary urothelial tumors. In World Health Organization classification of tumors. Pathology and genetics of tumors of the urinary system and male genital organs. Eble JN, Epstein JI, Sesterhenn I (eds): Lyon, IARCC Press, p. 110, 2004
8. ^ von der Maase, H; Hansen, SW; Roberts, JT; Dogliotti, L; Oliver, T; Moore, MJ; Bodrogi, I; Albers, P; Knuth, A; Lippert, CM; Kerbrat, P; Sanchez Rovira, P; Wersall, P; Cleall, SP; Roychowdhury, DF; Tomlin, I; Visseren-Grul, CM; Conte, PF (September 2000). "Gemcitabine and cisplatin versus methotrexate, vinblastine, doxorubicin, and cisplatin in advanced or metastatic bladder cancer: results of a large, randomized, multinational, multicenter, phase III study". Journal of Clinical Oncology. 18 (17): 3068–77. doi:10.1200/jco.2000.18.17.3068. PMID 11001674.
9. ^ Immunotherapy Proceeds to Change Bladder Cancer Treatment 2017
10. ^ Syn, Nicholas L; Teng, Michele W L; Mok, Tony S K; Soo, Ross A (2017). "De-novo and acquired resistance to immune checkpoint targeting". The Lancet Oncology. 18 (12): e731–e741. doi:10.1016/s1470-2045(17)30607-1. PMID 29208439.
11. ^ "FDA approves new, targeted treatment for bladder cancer". FDA. 18 May 2016. Retrieved 20 May 2016.
12. ^ Failed confirmatory trial raises questions about atezolizumab for advanced urothelial cancer. June 2017
13. ^ Walsh DL, Chang SS (2009). "Dilemmas in the treatment of urothelial cancers of the prostate". Urologic Oncology. 27 (4): 352–7. doi:10.1016/j.urolonc.2007.12.010. PMID 18439852.
14. ^ Njinou Ngninkeu B, Lorge F, Moulin P, Jamart J, Van Cangh PJ (January 2003). "Transitional cell carcinoma involving the prostate: a clinicopathological retrospective study of 76 cases". The Journal of Urology. 169 (1): 149–52. doi:10.1097/01.ju.0000042810.43380.36. PMID 12478124.
## External links[edit]
Classification
D
* ICD-O: M8120/3-8130
* MeSH: D002295
* SNOMED CT: 27090000
External resources
* eMedicine: med/2003 radio/711
* v
* t
* e
Glandular and epithelial cancer
Epithelium
Papilloma/carcinoma
* Small-cell carcinoma
* Combined small-cell carcinoma
* Verrucous carcinoma
* Squamous cell carcinoma
* Basal-cell carcinoma
* Transitional cell carcinoma
* Inverted papilloma
Complex epithelial
* Warthin's tumor
* Thymoma
* Bartholin gland carcinoma
Glands
Adenomas/
adenocarcinomas
Gastrointestinal
* tract: Linitis plastica
* Familial adenomatous polyposis
* pancreas
* Insulinoma
* Glucagonoma
* Gastrinoma
* VIPoma
* Somatostatinoma
* Cholangiocarcinoma
* Klatskin tumor
* Hepatocellular adenoma/Hepatocellular carcinoma
Urogenital
* Renal cell carcinoma
* Endometrioid tumor
* Renal oncocytoma
Endocrine
* Prolactinoma
* Multiple endocrine neoplasia
* Adrenocortical adenoma/Adrenocortical carcinoma
* Hürthle cell
Other/multiple
* Neuroendocrine tumor
* Carcinoid
* Adenoid cystic carcinoma
* Oncocytoma
* Clear-cell adenocarcinoma
* Apudoma
* Cylindroma
* Papillary hidradenoma
Adnexal and
skin appendage
* sweat gland
* Hidrocystoma
* Syringoma
* Syringocystadenoma papilliferum
Cystic, mucinous,
and serous
Cystic general
* Cystadenoma/Cystadenocarcinoma
Mucinous
* Signet ring cell carcinoma
* Krukenberg tumor
* Mucinous cystadenoma / Mucinous cystadenocarcinoma
* Pseudomyxoma peritonei
* Mucoepidermoid carcinoma
Serous
* Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma
Ductal, lobular,
and medullary
Ductal carcinoma
* Mammary ductal carcinoma
* Pancreatic ductal carcinoma
* Comedocarcinoma
* Paget's disease of the breast / Extramammary Paget's disease
Lobular carcinoma
* Lobular carcinoma in situ
* Invasive lobular carcinoma
Medullary carcinoma
* Medullary carcinoma of the breast
* Medullary thyroid cancer
Acinar cell
* Acinic cell carcinoma
* v
* t
* e
Tumors of the urinary and genital systems
Kidney
Glandular and epithelial neoplasm
* Renal cell carcinoma
* Renal oncocytoma
Mixed tumor
* Wilms' tumor
* Mesoblastic nephroma
* Clear-cell sarcoma of the kidney
* Angiomyolipoma
* Cystic nephroma
* Metanephric adenoma
by location
* Renal medullary carcinoma
* Juxtaglomerular cell tumor
* Renal medullary fibroma
Ureter
* Ureteral neoplasm
Bladder
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Inverted papilloma
Urethra
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Adenocarcinoma
* Melanoma
Other
* Malignant fibrous histiocytoma
* v
* t
* e
* Tumors of the male urogenital system
Testicles
Sex cord–
gonadal stromal
* Sertoli–Leydig cell tumour
* Sertoli cell tumour
* Leydig cell tumour
Germ cell
G
* Seminoma
* Spermatocytic tumor
* Germ cell neoplasia in situ
NG
* Embryonal carcinoma
* Endodermal sinus tumor
* Gonadoblastoma
* Teratoma
* Choriocarcinoma
* Embryoma
Prostate
* Adenocarcinoma
* High-grade prostatic intraepithelial neoplasia
* HGPIN
* Small-cell carcinoma
* Transitional cell carcinoma
Penis
* Carcinoma
* Extramammary Paget's disease
* Bowen's disease
* Bowenoid papulosis
* Erythroplasia of Queyrat
* Hirsuties coronae glandis
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Transitional cell carcinoma | c0007138 | 2,188 | wikipedia | https://en.wikipedia.org/wiki/Transitional_cell_carcinoma | 2021-01-18T18:46:49 | {"gard": ["7794"], "mesh": ["D002295"], "umls": ["C0007138"], "wikidata": ["Q2501186"]} |
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood.
## Epidemiology
To date, more than 150 cases have been described in the literature; however, the disease is likely under reported. The condition appears to be slightly more frequent in females.
## Clinical description
Onset typically occurring between 2 and 8 months of age but may occur anywhere between birth and early childhood with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days (although persistence for over one week has been reported). The torticollic episodes (in particular those of shorter duration) may by associated with other symptoms including vomiting, pallor, sweating, apathy or irritability, an unsteady gait, an upwardly-diverted gaze, abnormal truncal posture (tortipelvis) and contraction of the posterior neck muscles (retrocollis). The frequency and duration of the torticollic episodes decreases with age and episodes usually stop completely by 5 years of age.
## Etiology
There is some clinical and genetic evidence pointing to benign paroxysmal torticollis as one of the infantile migraine precursors. In some cases disease-causing mutations have been identified in the CACNA1A (19p13.13). In one case, a mutation in PRRT2 (16p11.2) has been identified. Both CACNA1A and PRRT2 have been linked to other diseases such as familial hemiplegic migraine.
## Diagnostic methods
Diagnostic criteria include i) recurrent attacks in infants and small children ii) head tilt to either side that remits spontaneously after minutes to days iii) one of the following symptoms: pallor, irritability, malaise, vomiting and ataxia which may coexist during attacks iv) normal neurological examination between attacks v) not attributed to another disorder. As the disorder is benign and transient, extensive investigations should be avoided, although some diagnostic tests (brain ultrasound, computerized tomography, magnetic resonance imaging, studies of toxics or drugs and otorhinolaryngological examination), all giving normal results, may be required mainly in the first episode to exclude other causes of torticollis.
## Differential diagnosis
The differential diagnosis (mainly in the first episode) should include intoxication, undesirable secondary effects of drugs, craniocervical junction abnormalities such as atlanto-axial instability, Arnold-Chiari malformation, epilepsy, vertigo, Sandifer's syndrome and posterior fossa tumors in cases with associated symptoms.
## Genetic counseling
The disorder usually occurs sporadically; however, a few families with autosomal dominant inheritance have been reported.
## Management and treatment
As the disease is self-limiting and resolves spontaneously by mid-childhood, no treatment is usually required. There is no approved medication for this disease.
## Prognosis
Prognosis is excellent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Benign paroxysmal torticollis of infancy | c3494934 | 2,189 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71518 | 2021-01-23T19:01:28 | {"icd-10": ["G24.3"]} |
Main article: Speech and language pathology
Language disorder
SpecialtyPsychiatry
Language disorders or language impairments are disorders that involve the processing of linguistic information. Problems that may be experienced can involve grammar (syntax and/or morphology), semantics (meaning), or other aspects of language. These problems may be receptive (involving impaired language comprehension), expressive (involving language production), or a combination of both. Examples include specific language impairment, better defined as developmental language disorder, or DLD, and aphasia, among others. Language disorders can affect both spoken and written language,[1] and can also affect sign language; typically, all forms of language will be impaired.
Current data indicates that 7% of young children display language disorder,[2][3] with boys being diagnosed twice as much as girls.[4]
Preliminary research on potential risk factors have suggested biological components, such as low birth weight, prematurity, general birth complications, and male gender, as well as family history and low parental education can increase the chance of developing language disorders.[5]
For children with phonological and expressive language difficulties, there is evidence supporting speech and language therapy. However, the same therapy is shown to be much less effective for receptive language difficulties.[6] These results are consistent with the poorer prognosis for receptive language impairments that are generally accompanied with problems in reading comprehension.[7]
Note that these are distinct from speech disorders, which involve difficulty with the act of speech production, but not with language.
Language disorders tend to manifest in two different ways: receptive language disorders (where one cannot properly comprehend language) and expressive language disorders (where one cannot properly communicate their intended message).
## Contents
* 1 Receptive language disorders
* 2 Expressive language disorders
* 3 Psychopathology of language
* 4 See also
* 5 References
* 6 Further reading
* 7 External links
## Receptive language disorders[edit]
Receptive language disorders can be acquired or developmental (most often the latter). When developmental, difficulties in spoken language tend to occur before three years of age. Usually such disorders are accompanied by expressive language disorders.[8]
However, unique symptoms and signs of a receptive language disorder include: struggling to understand meanings of words and sentences, struggling to put words in proper order, and inability to follow verbal instruction.[9]
Treatment options include: language therapy, special education classes for children at school, and a psychologist if accompanying behavioral problems are present.
## Expressive language disorders[edit]
Unlike those with a speech disorder, the problem with expressive language disorders pertains not only to the voice and articulation, but to the mental formation of language, itself.
Expressive language disorders can occur during a child's development or they can be acquired. This acquisition usually follows a normal neurological development and is brought about by a number of causes such as head trauma or irradiation.[10][unreliable medical source?]
Features of an expressive language disorder vary, but have certain features in common such as: limited vocabulary, inability to produce complex grammar, and more lexical errors.
If it is a developmental disorder, the child will have difficulty acquiring new words and grammatical structures. The child will often begin speaking later than his/her peers and progress at a slower rate linguistically. Due to the very nature of these disorders, the child may struggle with academics and socializing with peers.[11][unreliable medical source?]
Experts that commonly treat such disorders include speech pathologists and audiologists.
## Psychopathology of language[edit]
A special class of language disorders is studied by the psychopathology of language. Its topics of interest range from simple speech error to dream speech and schizophasia.
## See also[edit]
* Aphasia
* Auditory processing disorder
* Broca's area
* Communication disorder
* Dyslexia
* List of language disorders
* Semantic pragmatic disorder
* Specific language impairment
* Speech and language pathology in school settings
* Speech repetition
## References[edit]
1. ^ Katusic, Slavica K.; Colligan, Robert C.; Weaver, Amy L.; Barbaresi, William J. (2009-05-01). "The Forgotten Learning Disability: Epidemiology of Written-Language Disorder in a Population-Based Birth Cohort (1976–1982), Rochester, Minnesota". Pediatrics. 123 (5): 1306–1313. doi:10.1542/peds.2008-2098. ISSN 0031-4005. PMC 2923476. PMID 19403496. Archived from the original on 2017-05-09.
2. ^ Beitchman, J., & Brownlie, E. B. (2014). Language disorders in children and adolescents. Cambridge, MA: Hogrefe & Huber.
3. ^ Heim, S., & Benasich, A. A. (2006). Developmental disorders of language. In D. Cicchetti & D. J. Cohen (Eds.), Developmental psychopathology, Vol. 3. Risk, disorder, and adaptation (2nd ed., pp. 268–316). Hoboken, NJ: Wiley.
4. ^ Pinborough-Zimmerman, J., Satterfield, R., Miller, J., Bilder, D., Hossain, S., & McMahon, W. (2007). Communication disorders: Prevalence and comorbid intellectual disability, autism, and emotional/ behavioral disorders. American Journal of Speech-Language Pathology, 16, 359–367.
5. ^ Wallace, Ina F.; Berkman, Nancy D.; Watson, Linda R.; Coyne-Beasley, Tamera; Wood, Charles T.; Cullen, Katherine; Lohr, Kathleen N. (2015-08-01). "Screening for Speech and Language Delay in Children 5 Years Old and Younger: A Systematic Review". Pediatrics. 136 (2): e448–e462. doi:10.1542/peds.2014-3889. ISSN 0031-4005. PMID 26152671. Archived from the original on 2016-03-10.
6. ^ Law, James; Garrett, Zoe; Nye, Chad (2003-07-21). "Speech and language therapy interventions for children with primary speech and language delay or disorder". Cochrane Database of Systematic Reviews (3): CD004110. doi:10.1002/14651858.cd004110. PMID 12918003.
7. ^ Kotsopoulos, S. (2013-05-22). "Neurodevelopmental Disorders". Diagnostic and Statistical Manual of Mental Disorders. Journal of Psychiatry and Neuroscience. DSM Library. 26. American Psychiatric Association. pp. 257. doi:10.1176/appi.books.9780890425596.dsm01. ISBN 978-0890425558. PMC 1408294.
8. ^ Victoria State Govt. "Receptive language disorder." Better Health Channel, 2016, "Receptive language disorder". Archived from the original on 2017-07-12. Retrieved 2017-06-09..
9. ^ The Understood Team. "Understanding Language Disorders." Edited by Bob Cunningham. Understood: for learning & attention issues, 2014, "Child Learning Disabilities | Behavior Problems | Attention Issues". Archived from the original on 2017-07-03. Retrieved 2017-06-09.
10. ^ Bressert, S. (2016). Expressive Language Disorder Symptoms. Psych Central. Retrieved on May 1, 2017, from "Expressive Language Disorder Symptoms". 2016-05-17. Archived from the original on 2017-01-19. Retrieved 2017-05-01.
11. ^ ASHA. American Speech-Language-Hearing Association, psychcentral.com/disorders/expressive-language-disorder-symptoms/.
## Further reading[edit]
* Gaddes, William H.; Edgell, Dorothy (1993). Learning Disabilities and Brain Function: A Neuropsychological Approach. Springer. ISBN 978-0-387-94041-0.
* van Dulm, Ondene (2002). "A Psycholinguistic Approach to the Classification, Evaluation and Remediation of Language Disorder" (PDF). Stellenbosch Papers in Linguistics. 34: 111–131.
* Small SL (December 1994). "Connectionist networks and language disorders". J Commun Disord. 27 (4): 305–23. doi:10.1016/0021-9924(94)90020-5. PMID 7876410.
## External links[edit]
Classification
D
* ICD-10: F80
* ICD-9-CM: 315.3
* MeSH: D007806
* v
* t
* e
Dyslexia and related specific developmental disorders
Conditions
Speech, language, and
communication
* Expressive language disorder
* Infantile speech
* Landau–Kleffner syndrome
* Language disorder
* Lisp
* Mixed receptive-expressive language disorder
* Specific language impairment
* Speech and language impairment
* Speech disorder
* Speech error
* Speech sound disorder
* Stuttering
* Tip of the tongue
Learning disability
* Dyslexia
* Dyscalculia
* Dysgraphia
* Disorder of written expression
Motor
* Developmental coordination disorder
* Developmental verbal dyspraxia
Sensory
* Auditory processing disorder
* Sensory processing disorder
Related topics
* Dyslexia research
* Irlen filters
* Learning Ally
* Learning problems in childhood cancer
* Literacy
* Management of dyslexia
* Multisensory integration
* Neuropsychology
* Reading acquisition
* Spelling
* Writing system
Lists
* Dyslexia in fiction
* Languages by Writing System
* People with dyslexia
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Language disorder | c0023015 | 2,190 | wikipedia | https://en.wikipedia.org/wiki/Language_disorder | 2021-01-18T18:58:16 | {"mesh": ["D007806"], "umls": ["C1866987", "C0023015"], "icd-9": ["315.3"], "wikidata": ["Q10469820"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome at chromosome 8q22.1.
Description
Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al., 2010).
Clinical Features
Salpietro et al. (2003) described a 21-month-old girl with a striking facial appearance and other characteristics virtually identical to those in a patient reported by Teebi (2000) under the designation Nablus mask-like facial syndrome. Features in both cases, well demonstrated by the photograph of Salpietro et al. (2003), included upswept frontal hairline, tight glistening facial skin, high-arched and sparse eyebrows, absent/scant eyelashes, hypertelorism, blepharophimosis, bulbous nasal tip, prominent smooth philtrum, maxillary hypoplasia with bilateral longitudinal cheek dimples, everted lower lip, small chin, and abnormal ear configuration. The patient of Salpietro et al. (2003) was Sicilian; that of Teebi (2000) was a 4-year-old Palestinian boy. In both cases parental consanguinity seemed likely.
Teebi (2001) discussed the differences between Nablus mask-like facial syndrome and blepharonasofacial syndrome (110050).
Shieh et al. (2006) reported a 17-month-old Asian boy with Nablus mask-like facial syndrome, born of unrelated parents. In addition to the characteristic facial features described by Teebi (2000), the child had camptodactyly, contractures, unusual dentition, cryptorchidism, developmental delay, and happy demeanor.
Raas-Rothschild et al. (2009) reexamined the boy with NMLFS originally described by Teebi (2000), now 10 years of age. His psychomotor development was normal, and his cryptorchidism had been surgically repaired. His height was at the 5th centile with a head circumference at the 2nd centile, and his ear length was 3rd centile with an abnormal shape and unfolded helix; he also had blepharophimosis, telecanthus, flat broad nasal bridge, bluish- and tight-appearing skin around the nose, upsweep of frontal hair, and bilateral Spigelian hernias of the abdominal wall. He had an unaffected twin sister and healthy, nonconsanguineous parents. Raas-Rothschild et al. (2009) also reported the fourth case of NMLFS, a 9-month-old boy with a head circumference at the 3rd centile, broad neck, blepharophimosis, telecanthus, and broad flat nose with bluish, tight skin around the nose. He also had an upswept frontal hairline, contractures of large joints, 'sandal gap' between the first and second toes, and cryptorchidism with a small testicular scrotum. Noting that both sets of parents described their affected child as 'happy,' Raas-Rothschild et al. (2009) suggested that a happy disposition is a behavioral trait typical of NMFLS.
Cytogenetics
Using array-based comparative genomic hybridization (CGH) in a 17-month-old Asian boy with Nablus mask-like facial syndrome (NMLFS), Shieh et al. (2006) identified an approximately 4-Mb deletion involving chromosome 8q21.3-q22.1. Analysis of a 5-year-old girl with NMLFS, originally reported by Salpietro et al. (2003), revealed a similar deletion. Studies of the parents showed that the deletion was de novo in both cases. The results suggested that Nablus mask-like facial syndrome results from a chromosomal microdeletion of 8q. Shieh et al. (2006) noted the phenotypic similarities to those reported by Simosa et al. (1989) in a mother and son with Simosa craniofacial syndrome (182150).
In a mother and son with prominent forehead, deep-set eyes, blepharophimosis, arched eyebrows, small mouth, bulbous nasal tip, low-set dysplastic ears, and partial 2/3 toe syndactyly, Barber et al. (2008) identified a 3.14-Mb deletion at 8q22.1 in addition to a duplication of the distal short arm of chromosome 8. The 22-month-old infant had a head circumference below the 25th centile; his mother was born with cleft palate and had undergone surgery to bring her jaw forward. A male half-sib had died at 7 weeks of age of cytomegalovirus; postmortem report detailed similar facial features to the proband and his mother, as well as cleft soft palate, persistent ductus arteriosus, bowel malrotation, and inguinal hernia.
In a 10-year-old boy with NMLFS who was the original patient described by Teebi (2000), Raas-Rothschild et al. (2009) identified a 3.37-Mb deletion on chromosome 8q22.1, from 92.99 Mb to 96.36 Mb. In a 9-month-old boy with NMLFS, Raas-Rothschild et al. (2009) identified a 7.27-Mb deletion on 8q21.3-q22.1, from 89.07 Mb to 96.34 Mb. The deletions were confirmed by FISH analysis, and were found to be de novo in both cases.
In a 6-year-old boy with only slight elongation of the palpebral fissures and minimally thickened ear helices, who had a normal hair pattern, no joint contractures, and normal genitalia, Jain et al. (2010) identified a de novo 1.6-Mb deletion at 8q22.1, from 94.8 Mb to 96.4 Mb. In contrast to previously described patients, the boy had delayed speech and social development, and psychological assessment indicated he met criteria for an autistic spectrum disorder. Noting that this deletion only partially overlapped those of other reports, Jain et al. (2010) suggested that the nonoverlapping region found in NMLFS cases may represent the critical region for the phenotype.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Microcephaly, acquired Face \- Mask-like facies \- Expressionless facial appearance \- Bitemporal narrowing \- Frontal bossing, mild \- Prominent glabella \- Maxillary hypoplasia \- Retrognathia \- Long, smooth philtrum Ears \- Abnormal ear configuration \- Triangular-shaped ears \- Prominent antihelices \- Low-set ears \- Posteriorly rotated ears Eyes \- Short palpebral fissures \- Blepharophimosis \- Hypertelorism \- Sparse eyelashes \- Sparse eyebrows Nose \- Flat, broad nasal bridge \- Short nose \- Large, anteverted nasal tip Mouth \- Small mouth \- Long, everted upper lip \- Thin upper lip \- High-arched palate Teeth \- Abnormal dentition \- Curved incisors Neck \- Short neck \- Broad neck CHEST Breasts \- Laterally displaced nipples \- Hypoplastic nipples GENITOURINARY External Genitalia (Male) \- Small penis External Genitalia (Female) \- Hypoplastic labia Internal Genitalia (Male) \- Cryptorchidism SKELETAL \- Joint contractures Skull \- Asymmetric skull \- Craniosynostosis Hands \- Camptodactyly \- Clinodactyly \- Tapering fingers SKIN, NAILS, & HAIR Skin \- Tight, glistening facial skin Hair \- Upswept frontal hair pattern \- Low anterior hairline \- Sparse hair \- Unruly hair \- Sparse eyebrows \- High-arched eyebrows \- Misaligned eyebrows \- Sparse eyelashes NEUROLOGIC Central Nervous System \- Developmental delay Behavioral Psychiatric Manifestations \- Happy demeanor MOLECULAR BASIS \- Contiguous gene syndrome caused by deletion of 3.2Mb deletion on 8q22.1 ▲ Close
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| NABLUS MASK-LIKE FACIAL SYNDROME | c1842464 | 2,191 | omim | https://www.omim.org/entry/608156 | 2019-09-22T16:08:13 | {"mesh": ["C536110"], "omim": ["608156"], "orphanet": ["178303"], "synonyms": ["Alternative titles", "CHROMOSOME 8q22.1 DELETION SYNDROME"]} |
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
## Epidemiology
It has an estimated prevalence of 1/1,000,000 in the USA and Europe, with higher figures in other countries (e.g. Japan, North Africa and Pakistan), particularly in communities with a high degree of consanguinity.
## Clinical description
The severity of the clinical manifestations and the age of onset are extremely variable and are in part dependent on exposure to sunlight and the complementation group. Approximately 50% of affected individuals have acute sun sensitivity from the first few months of life, presenting with severe sunburn and/or persistent erythema which takes weeks to resolve. Others do not show any sunburn reaction and gradually develop marked freckling at sun exposed sites. Individuals have dry skin and hypo- or hyperpigmented lesions. There is a greater than 10,000-fold increased risk of non-melanoma skin cancers, and a 2,000 fold increased risk of melanoma under the age of 20 when compared to the general population. Patients with classical XP develop skin cancer generally before the age of 20, while patients with XP variant start to develop skin cancer at about 20-30 years of age. Ocular abnormalities include keratitis resulting in corneal opacification and vascularization. Photophobia is common. Ocular squamous cell carcinoma and melanoma are common. Neurologic abnormalities of varying severity have been reported in about 30% of cases. These include acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, spasticity, ataxia, seizures and progressive cognitive impairment. De Sanctis-Cacchione syndrome is a term that was originally attributed to XP cases with severe neurological abnormalities but it is no longer in general use.
## Etiology
XP is caused by mutations in 8 genes involved in DNA repair. Seven of these genes, XPA to XPG (ERCC5), are involved in nucleotide excision repair (NER). XPV, or POLH, encodes the DNA polymerase eta, which is required to replicate DNA containing UV-induced damage.
## Diagnostic methods
Diagnosis is based on clinical symptoms and is confirmed by cellular tests for defective DNA repair (e.g. unscheduled DNA synthesis (UDS) test in cultured skin fibroblasts) and UV hypersensitivity. Reduced UDS and hypersensitivity to UV-induced killing confirm the diagnosis of XP. A normal UDS and specific sensitivity to UV in the presence of caffeine confirm the diagnosis of XP variant.
## Differential diagnosis
Differential diagnoses include trichothiodystrophy, Cockayne syndrome, cerebrooculofacioskeletal syndrome (COFS), UV-sensitive syndrome, erythropoietic protoporphyria, and Rothmund-Thomson syndrome (see these terms).
## Antenatal diagnosis
Prenatal diagnosis through measurement of UDS in cultured chorionic villus cells or amniocytes has been reported.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
Patients must avoid sun exposure (application of sun cream, UV protective clothing, indoor protection with UV blocking films). Management requires a multidisciplinary approach. Regular skin and eye review and appropriate management of any cancerous lesions is essential. Vitamin D deficiency is common and supplements should be prescribed.
## Prognosis
There is no cure for XP but sun avoidance and regular follow-up to assess and treat any skin cancers increases life expectancy. For those with no neurological disease and rigorous UV protection, the prognosis is good. However the neurological abnormalities are progressive and can result in a shortened lifespan.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
| Xeroderma pigmentosum | c0043346 | 2,192 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=910 | 2021-01-23T19:12:05 | {"gard": ["7910"], "mesh": ["D014983"], "omim": ["278700", "278720", "278730", "278740", "278760", "278780", "610651"], "umls": ["C0043346"], "icd-10": ["Q82.1"]} |
Proposed compulsive sexual disorder
Sexual addiction, also known as sex addiction, is a state characterized by compulsive participation or engagement in sexual activity, particularly sexual intercourse, despite negative consequences.[1]
Proponents of a diagnostic model for sexual addiction consider it to be one of several sex-related disorders within hypersexual disorder.[2] The term sexual dependence is also used to refer to people who report being unable to control their sexual urges, behaviors, or thoughts. Related or synonymous models of pathological sexual behavior include hypersexuality (nymphomania and satyriasis), erotomania, Don Juanism (or Don Juanitaism), and paraphilia-related disorders.[3][4][5]
The concept of sexual addiction is contentious.[6][7] There is considerable debate among psychiatrists, psychologists, sexologists, and other specialists whether compulsive sexual behavior constitutes an addiction, and therefore its classification and possible diagnosis. Animal research has established that compulsive sexual behavior arises from the same transcriptional and epigenetic mechanisms that mediate drug addiction in laboratory animals; however, as of 2018,[update] sexual addiction is not a clinical diagnosis in either the DSM or ICD medical classifications of diseases and medical disorders. Some argue that applying such concepts to normal behaviors such as sex can be problematic, and suggest that applying medical models such as addiction to human sexuality can serve to pathologise normal behavior and cause harm.[8]
The ICD-11 created a new condition classification, compulsive sexual behavior, to cover "a persistent pattern of failure to control intense, repetitive sexual impulses or urges resulting in repetitive sexual behaviour".[9][10]
## Contents
* 1 Classification
* 1.1 DSM
* 1.2 ICD
* 1.3 CCMD
* 1.4 Other
* 1.5 Borderline personality disorder
* 1.6 Medical reviews and position statements
* 2 Possible mechanisms
* 3 Treatment
* 3.1 Counseling
* 3.2 Support groups
* 3.2.1 Online support groups
* 3.2.2 In-person support groups
* 3.3 Medications
* 3.3.1 Antiviral drugs
* 4 Epidemiology
* 5 History
* 6 Society and culture
* 6.1 Controversy
* 6.2 Popular culture
* 7 See also
* 8 References
* 9 Further reading
## Classification[edit]
Addiction and dependence glossary[11][12][13][14]
* addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences
* addictive behavior – a behavior that is both rewarding and reinforcing
* addictive drug – a drug that is both rewarding and reinforcing
* dependence – an adaptive state associated with a withdrawal syndrome upon cessation of repeated exposure to a stimulus (e.g., drug intake)
* drug sensitization or reverse tolerance – the escalating effect of a drug resulting from repeated administration at a given dose
* drug withdrawal – symptoms that occur upon cessation of repeated drug use
* physical dependence – dependence that involves persistent physical–somatic withdrawal symptoms (e.g., fatigue and delirium tremens)
* psychological dependence – dependence that involves emotional–motivational withdrawal symptoms (e.g., dysphoria and anhedonia)
* reinforcing stimuli – stimuli that increase the probability of repeating behaviors paired with them
* rewarding stimuli – stimuli that the brain interprets as intrinsically positive and desirable or as something to approach
* sensitization – an amplified response to a stimulus resulting from repeated exposure to it
* substance use disorder – a condition in which the use of substances leads to clinically and functionally significant impairment or distress
* tolerance – the diminishing effect of a drug resulting from repeated administration at a given dose
* v
* t
* e
None of the official diagnostic classification frameworks list "sexual addiction" as a distinct disorder.
### DSM[edit]
The American Psychiatric Association (APA) publishes and periodically updates the Diagnostic and Statistical Manual of Mental Disorders (DSM), a widely recognized compendium of mental health diagnostics.[15]
The version published in 1987 (DSM-III-R), referred to "distress about a pattern of repeated sexual conquests or other forms of nonparaphilic sexual addiction, involving a succession of people who exist only as things to be used."[16] The reference to sexual addiction was subsequently removed.[17] The DSM-IV-TR, published in 2000 (DSM-IV-TR), did not include sexual addiction as a mental disorder.[18]
Some authors suggested that sexual addiction should be re-introduced into the DSM system;[19] however, sexual addiction was rejected for inclusion in the DSM-5, which was published in 2013.[20] Darrel Regier, vice-chair of the DSM-5 task force, said that "[A]lthough 'hypersexuality' is a proposed new addition...[the phenomenon] was not at the point where we were ready to call it an addiction." The proposed diagnosis does not make the cut as an official diagnosis due to a lack of research into diagnostic criteria for compulsive sexual behavior, according to the APA.[21][22]
### ICD[edit]
The World Health Organization produces the International Classification of Diseases (ICD), which is not limited to mental disorders. The most recent approved version of that document, ICD-10, includes "excessive sexual drive" as a diagnosis (code F52.7), subdividing it into satyriasis (for males) and nymphomania (for females). However, the ICD categorizes these diagnoses as compulsive behaviors or impulse control disorders and not addiction.[23] The most recent (yet unapproved) version of that document, ICD-11, includes "compulsive sexual behavior disorder"[24] as a diagnosis (code 6C72)—it does not use the addiction model.[25]
### CCMD[edit]
The Chinese Society of Psychiatry produces the Chinese Classification of Mental Disorders (CCMD), which is currently in its third edition – the CCMD-3 does not include sexual addiction as a diagnosis.[citation needed]
### Other[edit]
Some mental health providers have proposed various, but similar, criteria for diagnosing sexual addiction, including Patrick Carnes,[26] Aviel Goodman,[27] and the late Jonathan Marsh.[28] Carnes authored the first clinical book about sex addiction in 1983, based on his own empirical research. His diagnostic model is still largely utilized by the thousands of certified sex addiction therapists (CSATs) trained by the organization he founded.[29] No diagnostic proposal for sex addiction has been adopted into any official government diagnostic manual, however.[citation needed]
During the update of the Diagnostic and Statistical Manual to version 5 (DSM-5), the APA rejected two independent proposals for inclusion.[citation needed]
In 2011, the American Society of Addiction Medicine (ASAM), the largest medical consensus of physicians dedicated to treating and preventing addiction,[30] redefined addiction as a chronic brain disorder,[31] which for the first time broadened the definition of addiction from substances to include addictive behaviors and reward-seeking, such as gambling and sex.[32]
### Borderline personality disorder[edit]
Main article: Borderline personality disorder
The ICD, DSM and CCMD list promiscuity as a prevalent and problematic symptom for Borderline Personality Disorder. Individuals with this diagnosis sometimes engage in sexual behaviors that can appear out of control, distressing the individual or attracting negative reactions from others.[33] There is therefore a risk that a person presenting with sex addiction, may in fact be suffering from Borderline Personality Disorder. This may lead to inappropriate or incomplete treatment.[34]
### Medical reviews and position statements[edit]
In November 2016, the American Association of Sexuality Educators, Counselors and Therapists (AASECT), the official body for sex and relationship therapy in the United States, issued a position statement on Sex Addiction that states that AASECT, "...does not find sufficient empirical evidence to support the classification of sex addiction or porn addiction as a mental health disorder, and does not find the sexual addiction training and treatment methods and educational pedagogies to be adequately informed by accurate human sexuality knowledge. Therefore, it is the position of AASECT that linking problems related to sexual urges, thoughts or behaviors to a porn/sexual addiction process cannot be advanced by AASECT as a standard of practice for sexuality education delivery, counseling or therapy."[35]
In 2017, three new USA sexual health organizations found no support for the idea that sex or adult films were addictive in their position statement.[36]
In 16 November 2017 the Association for the Treatment of Sexual Abusers (ATSA) published a position against sending sex offenders to sex addiction treatment facilities.[37] Those centers argued that "illegal" behaviors were symptoms of sex addiction, which ATSA challenged they had no scientific evidence to support.[citation needed]
## Possible mechanisms[edit]
Animal research involving rats that exhibit compulsive sexual behavior has identified that this behavior is mediated through the same molecular mechanisms in the brain that mediate drug addiction.[38][39][40] Sexual activity is an intrinsic reward that has been shown to act as a positive reinforcer,[41] strongly activate the reward system, and induce the accumulation of ΔFosB in part of the striatum (specifically, the nucleus accumbens).[38][39][40] Chronic and excessive activation of certain pathways within the reward system and the accumulation of ΔFosB in a specific group of neurons within the nucleus accumbens has been directly implicated in the development of the compulsive behavior that characterizes addiction.[39][42][43][44]
In humans, a dopamine dysregulation syndrome, characterized by drug-induced compulsive engagement in sexual activity or gambling, has also been observed in some individuals taking dopaminergic medications.[38] Current experimental models of addiction to natural rewards and drug reward demonstrate common alterations in gene expression in the mesocorticolimbic projection.[38][45] ΔFosB is the most significant gene transcription factor involved in addiction, since its viral or genetic overexpression in the nucleus accumbens is necessary and sufficient for most of the neural adaptations and plasticity that occur;[45] it has been implicated in addictions to alcohol, cannabinoids, cocaine, nicotine, opioids, phenylcyclidine, and substituted amphetamines.[38][45][46] ΔJunD is the transcription factor which directly opposes ΔFosB.[45] Increases in nucleus accumbens ΔJunD expression can reduce or, with a large increase, even block most of the neural alterations seen in chronic drug abuse (i.e., the alterations mediated by ΔFosB).[45]
ΔFosB also plays an important role in regulating behavioral responses to natural rewards, such as palatable food, sex, and exercise.[39][45] Natural rewards, like drugs of abuse, induce ΔFosB in the nucleus accumbens, and chronic acquisition of these rewards can result in a similar pathological addictive state.[38][39] Thus, ΔFosB is also the key transcription factor involved in addictions to natural rewards as well,[38][40] and sexual addictions in particular, since ΔFosB in the nucleus accumbens is critical for the reinforcing effects of sexual reward.[39] Research on the interaction between natural and drug rewards suggests that psychostimulants and sexual reward possess cross-sensitization effects and act on common biomolecular mechanisms of addiction-related neuroplasticity which are mediated through ΔFosB.[38][40]
Summary of addiction-related plasticity Form of neuroplasticity
or behavioral plasticity Type of reinforcer Sources
Opiates Psychostimulants High fat or sugar food Sexual intercourse Physical exercise
(aerobic) Environmental
enrichment
ΔFosB expression in
nucleus accumbens D1-type MSNs ↑ ↑ ↑ ↑ ↑ ↑ [38]
Behavioral plasticity
Escalation of intake Yes Yes Yes [38]
Psychostimulant
cross-sensitization Yes Not applicable Yes Yes Attenuated Attenuated [38]
Psychostimulant
self-administration ↑ ↑ ↓ ↓ ↓ [38]
Psychostimulant
conditioned place preference ↑ ↑ ↓ ↑ ↓ ↑ [38]
Reinstatement of drug-seeking behavior ↑ ↑ ↓ ↓ [38]
Neurochemical plasticity
CREB phosphorylation
in the nucleus accumbens ↓ ↓ ↓ ↓ ↓ [38]
Sensitized dopamine response
in the nucleus accumbens No Yes No Yes [38]
Altered striatal dopamine signaling ↓DRD2, ↑DRD3 ↑DRD1, ↓DRD2, ↑DRD3 ↑DRD1, ↓DRD2, ↑DRD3 ↑DRD2 ↑DRD2 [38]
Altered striatal opioid signaling No change or
↑μ-opioid receptors ↑μ-opioid receptors
↑κ-opioid receptors ↑μ-opioid receptors ↑μ-opioid receptors No change No change [38]
Changes in striatal opioid peptides ↑dynorphin
No change: enkephalin ↑dynorphin ↓enkephalin ↑dynorphin ↑dynorphin [38]
Mesocorticolimbic synaptic plasticity
Number of dendrites in the nucleus accumbens ↓ ↑ ↑ [38]
Dendritic spine density in
the nucleus accumbens ↓ ↑ ↑ [38]
## Treatment[edit]
### Counseling[edit]
As of 2017, none of the official regulatory bodies for Psycho-sexual Counseling or Sex and Relationship therapy, have accepted sex addiction as a distinct entity with associated treatment protocols. Indeed, some practitioners regard sex addiction as a potentially harmful diagnosis and draw parallels with gay conversion therapy.[35] As a result, treatment for sex addiction is more often provided by addiction professionals in the counseling field than psychosexual specialists. These counseling professionals typically hold advanced degrees of education including Master's degrees or Doctorates in counseling or a related field like psychology. These counselors can also hold certifications like Licensed Professional Counselors (LPC-S) who are required to hold a Master's degree or higher level of education. Therapists and Psychologists usually also hold a Master's in a related field of study.[47]
Cognitive behavioral therapy is a common form of behavioral treatment for addictions and maladaptive behaviors in general.[48] Dialectical behavior therapy has been shown to improve treatment outcomes as well. Certified Sex Addiction Therapists (CSAT) – a group of sexual addiction therapists certified by the International Institute for Trauma and Addiction Professionals – offer specialized behavioral therapy designed specifically for sexual addiction.[29][49] Their treatments have yet to be subject to peer-review, so it is unclear if they help or harm patients.
### Support groups[edit]
#### Online support groups[edit]
NoFap is an online community founded in 2011.[50] It serves as a support group for those who wish to avoid the use of pornography, masturbation, and/or sexual intercourse.[51][52]
Further information: NoFap
#### In-person support groups[edit]
In-person support groups are available in most of the developed world. None yet have any scientific evidence to show whether or not they are helpful, so attendees do so at their own risk.
The groups include:
* Sex Addicts Anonymous: For those who want to reduce or eliminate their use of pornography, masturbation, and/or unwanted sexual activity.
* Sex and Love Addicts Anonymous: Similar to the above.
* Sexaholics Anonymous: For those who want to eliminate their use of pornography, masturbation, unwanted sexual activity, and/or sex outside of marriage. Has a stricter definition of sexual sobriety than its competitors.
* SMART Recovery.
In places where none of the above are available, open meetings of Alcoholics Anonymous or Narcotics Anonymous may be a second-best option. At open AA and NA meetings, non-alcoholics/non-addicts are welcome to observe but not participate.
Support groups may be useful for uninsured or under-insured individuals. (See also: Alcoholics Anonymous § Health-care costs.) They may also be useful as an adjunct to professional treatment. In addition, they may be useful in places where professional practices are full (i.e. not accepting new patients), scarce, or nonexistent, or where these practices have waiting lists. Finally, they may be useful for patients who are reluctant to spend money on professional treatment.
### Medications[edit]
#### Antiviral drugs[edit]
Main article: Pre-exposure prophylaxis
The term "pre-exposure prophylaxis" (PrEP) generally refers to the use of antiviral drugs to help prevent AIDS. PrEP is an optional treatment for people who are HIV-negative, but have a substantial risk of getting an HIV infection.[citation needed]
In the US, most insurance plans cover these drugs.[53]
## Epidemiology[edit]
According to a systematic review from 2014, observed prevalence rates of sexual addiction/hypersexual disorder range from 3% to 6%.[2] Some studies suggest that sex addicts are disproportionately male, at 80%.[54]
## History[edit]
Sex addiction as a term first emerged in the mid-1970s when various members of Alcoholics Anonymous sought to apply the principles of 12-steps toward sexual recovery from serial infidelity and other unmanageable compulsive sex behaviors that were similar to the powerlessness and un-manageability they experienced with alcoholism.[55] Multiple 12-step style self-help groups now exist for people who identify as sex addicts, including Sex Addicts Anonymous, Sexaholics Anonymous, Sex and Love Addicts Anonymous, and Sexual Compulsives Anonymous.[citation needed]
## Society and culture[edit]
### Controversy[edit]
"Nonconsensual sexual activity is sexual abuse. Treatment for sexual addiction generally will not address the factors that lead people to sexually abuse others."— Association for the Treatment of Sexual Abusers[56]
The controversy surrounding sexual addiction is centered around its identification, through a diagnostic model, in a clinical setting. As noted in current medical literature reviews, compulsive sexual behavior has been observed in humans; drug-induced compulsive sexual behavior has also been noted clinically in some individuals taking dopaminergic drugs.[38] Moreover, some research suggests compulsive engagement in sexual behavior despite negative consequences in animal models. Since current diagnostic models use drug-related concepts as diagnostic criteria for addictions,[15] these are ill-suited for modelling compulsive behaviors in a clinical setting.[38] Consequently, diagnostic classification systems, such as the DSM, do not include sexual addiction as a diagnosis because there is currently "insufficient peer-reviewed evidence to establish the diagnostic criteria and course descriptions needed to identify these behaviors as mental disorders".[21] A 2014 systematic review on sexual addiction indicated that the "lack of empirical evidence on sexual addiction is the result of the disease's complete absence from versions of the Diagnostic and Statistical Manual of Mental Disorders."[2]
External media
Audio
Robert Weiss & David Ley. Is sex addiction a myth? // KPCC (25 April 2012, 9:29 am)
Video
Nicole Prause, Ph.D. (sexual physiologist). [1] CBS (18 July 2013)
There have been debates regarding the definition and existence of sexual addictions for decades, as the issue was covered in a 1994 journal article.[57][58] The Mayo Clinic considers sexual addiction a form of obsessive compulsive disorder and refer to it as sexual compulsivity (note that by definition, an addiction is a compulsion toward rewarding stimuli).[59] A paper dating back to 1988 and a journal comment letter published in 2006 asserted that sex addiction is itself a myth, a by-product of cultural and other influences.[60][61] The 1988 paper argued that the condition is instead a way of projecting social stigma onto patients.[60] "Love addiction" falls into the same controversial area as well since it refers to a frequent pattern of intimate relationships which can be a by product of cultural norms and commonly accepted morals.[62]
In a report from 2003, Marty Klein, stated that "the concept of sex addiction provides an excellent example of a model that is both sex-negative and politically disastrous."[63]:8 Klein singled out a number of features that he considered crucial limitations of the sex addiction model[63]:8 and stated that the diagnostic criteria for sexual addiction are easy to find on the internet.[63]:9 Drawing on the Sexual Addiction Screening Test, he stated that "the sexual addiction diagnostic criteria make problems of nonproblematic experiences, and as a result pathologize a majority of people."[63]:10
### Popular culture[edit]
Main page: Category:Sexual addiction in fiction
Sexual addiction has been the main theme in a variety of films including Diary of a Sex Addict, I Am a Sex Addict, Black Snake Moan, Confessions of a Porn Addict, Shame, Thanks for Sharing, Don Jon, and Choke.
## See also[edit]
* Psychology portal
* Human sexuality portal
* Psychiatry portal
* Compulsive masturbation
* Hypersexuality
* Internet sex addiction
* Pornography addiction
* Sexual obsessions
## References[edit]
1. ^ Malenka RC, Nestler EJ, Hyman SE (2009). "Chapter 15: Reinforcement and Addictive Disorders". In Sydor A, Brown RY (eds.). Molecular Neuropharmacology: A Foundation for Clinical Neuroscience (2nd ed.). New York: McGraw-Hill Medical. pp. 364–365, 375. ISBN 9780071481274. "The defining feature of addiction is compulsive, out-of-control drug use, despite negative consequences. ...
compulsive eating, shopping, gambling, and sex–so-called "natural addictions"– ... Indeed, addiction to both drugs and behavioral rewards may arise from similar dysregulation of the mesolimbic dopamine system."
2. ^ a b c Karila L, Wéry A, Weinstein A, Cottencin O, Petit A, Reynaud M, Billieux J (2014). "Sexual addiction or hypersexual disorder: different terms for the same problem? A review of the literature". Curr. Pharm. Des. 20 (25): 4012–20. doi:10.2174/13816128113199990619. PMID 24001295. "Sexual addiction, which is also known as hypersexual disorder, has largely been ignored by psychiatrists, even though the condition causes serious psychosocial problems for many people. A lack of empirical evidence on sexual addiction is the result of the disease's complete absence from versions of the Diagnostic and Statistical Manual of Mental Disorders. ... Existing prevalence rates of sexual addiction-related disorders range from 3% to 6%. Sexual addiction/hypersexual disorder is used as an umbrella construct to encompass various types of problematic behaviors, including excessive masturbation, cybersex, pornography use, sexual behavior with consenting adults, telephone sex, strip club visitation, and other behaviors. The adverse consequences of sexual addiction are similar to the consequences of other addictive disorders. Addictive, somatic and psychiatric disorders coexist with sexual addiction. In recent years, research on sexual addiction has proliferated, and screening instruments have increasingly been developed to diagnose or quantify sexual addiction disorders. In our systematic review of the existing measures, 22 questionnaires were identified. As with other behavioral addictions, the appropriate treatment of sexual addiction should combine pharmacological and psychological approaches."
3. ^ Coleman, Eli (June–July 2003). "Compulsive Sexual Behavior: What to Call It, How to Treat It?" (PDF). SIECUS Report. The Debate: Sexual Addiction and Compulsion. 31 (5): 12–16. Retrieved 15 October 2012.
4. ^ Coleman, E. (2011). "Chapter 28. Impulsive/compulsive sexual behavior: Assessment and treatment". In Grant, Jon E.; Potenza, Marc N. (eds.). The Oxford Handbook of Impulse Control Disorders. New York: Oxford University Press. p. 375. ISBN 9780195389715.
5. ^ Carnes, Patrick (1994). Contrary to Love: Helping the Sexual Addict. Hazelden Publishing. p. 28. ISBN 1568380593.
6. ^ Schaefer GA, Ahlers CJ (2017). "1.3, Sexual addiction: Terminology, definitions and conceptualisation". In Birchard T, Benfield J (eds.). Routledge International Handbook of Sexual Addiction. Routledge. ISBN 978-1317274254.
7. ^ Hall, Paula (2 January 2014). "Sex addiction – an extraordinarily contentious problem". Sexual and Relationship Therapy. 29 (1): 68–75. doi:10.1080/14681994.2013.861898. ISSN 1468-1994. S2CID 145015659.
8. ^ Haldeman, D (1991). "Sexual orientation conversion therapy for gay men and lesbians: A scientific examination" (PDF). Homosexuality: Research Implications for Public Policy: 149–160. doi:10.4135/9781483325422.n10. ISBN 9780803937642.
9. ^ Christensen, Jen. "WHO classifies compulsive sexual behavior as mental health condition". CNN. Retrieved 26 November 2018.
10. ^ "ICD-11 – Mortality and Morbidity Statistics". icd.who.int. Retrieved 26 November 2018.
11. ^ Malenka RC, Nestler EJ, Hyman SE (2009). "Chapter 15: Reinforcement and Addictive Disorders". In Sydor A, Brown RY (eds.). Molecular Neuropharmacology: A Foundation for Clinical Neuroscience (2nd ed.). New York: McGraw-Hill Medical. pp. 364–375. ISBN 9780071481274.
12. ^ Nestler EJ (December 2013). "Cellular basis of memory for addiction". Dialogues in Clinical Neuroscience. 15 (4): 431–443. PMC 3898681. PMID 24459410. "Despite the importance of numerous psychosocial factors, at its core, drug addiction involves a biological process: the ability of repeated exposure to a drug of abuse to induce changes in a vulnerable brain that drive the compulsive seeking and taking of drugs, and loss of control over drug use, that define a state of addiction. ... A large body of literature has demonstrated that such ΔFosB induction in D1-type [nucleus accumbens] neurons increases an animal's sensitivity to drug as well as natural rewards and promotes drug self-administration, presumably through a process of positive reinforcement ... Another ΔFosB target is cFos: as ΔFosB accumulates with repeated drug exposure it represses c-Fos and contributes to the molecular switch whereby ΔFosB is selectively induced in the chronic drug-treated state.41. ... Moreover, there is increasing evidence that, despite a range of genetic risks for addiction across the population, exposure to sufficiently high doses of a drug for long periods of time can transform someone who has relatively lower genetic loading into an addict."
13. ^ "Glossary of Terms". Mount Sinai School of Medicine. Department of Neuroscience. Retrieved 9 February 2015.
14. ^ Volkow ND, Koob GF, McLellan AT (January 2016). "Neurobiologic Advances from the Brain Disease Model of Addiction". New England Journal of Medicine. 374 (4): 363–371. doi:10.1056/NEJMra1511480. PMC 6135257. PMID 26816013. "Substance-use disorder: A diagnostic term in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) referring to recurrent use of alcohol or other drugs that causes clinically and functionally significant impairment, such as health problems, disability, and failure to meet major responsibilities at work, school, or home. Depending on the level of severity, this disorder is classified as mild, moderate, or severe.
Addiction: A term used to indicate the most severe, chronic stage of substance-use disorder, in which there is a substantial loss of self-control, as indicated by compulsive drug taking despite the desire to stop taking the drug. In the DSM-5, the term addiction is synonymous with the classification of severe substance-use disorder."
15. ^ a b Malenka RC, Nestler EJ, Hyman SE (2009). "Chapter 15: Reinforcement and Addictive Disorders". In Sydor A, Brown RY (eds.). Molecular Neuropharmacology: A Foundation for Clinical Neuroscience (2nd ed.). New York: McGraw-Hill Medical. pp. 364–368. ISBN 9780071481274. "The defining feature of addiction is compulsive, out-of-control drug use, despite negative consequences. ...Addictive drugs are both rewarding and reinforcing. A reward is a stimulus that the brain interprets as intrinsically positive. A reinforcing stimulus is one that increases the probability that behaviors paired with it will be repeated. Not all reinforcers are rewarding—for example, a negative or punishing stimulus might reinforce avoidance behaviors. ... Familiar pharmacologic terms such as tolerance, dependence, and sensitization are useful in describing some of the time-dependent processes that underlie addiction. ...
Dependence is defined as an adaptive state that develops in response to repeated drug administration, and is unmasked during withdrawal, which occurs when drug taking stops. Dependence from long-term drug use may have both a somatic component, manifested by physical symptoms, and an emotional–motivation component, manifested by dysphoria. While physical dependence and withdrawal occur with some drugs of abuse (opiates, ethanol), these phenomena are not useful in the diagnosis of addiction because they do not occur with other drugs of abuse (cocaine, amphetamine) and can occur with many drugs that are not abused (propranolol, clonidine). The official diagnosis of drug addiction by the Diagnostic and Statistic Manual of Mental Disorders (2000), which makes distinctions between drug use, abuse, and substance dependence, is flawed. First, diagnosis of drug use versus abuse can be arbitrary and reflect cultural norms, not medical phenomena. Second, the term substance dependence implies that dependence is the primary pharmacologic phenomenon underlying addiction, which is likely not true, as tolerance, sensitization, and learning and memory also play central roles. It is ironic and unfortunate that the Manual avoids use of the term addiction, which provides the best description of the clinical syndrome."
16. ^ American Psychiatric Association. (1987). Diagnostic and statistical manual of mental disorders (3rd ed., rev.). Washington, DC: Author.
17. ^ Kafka, M. P. (2010). "Hypersexual Disorder: A proposed diagnosis for DSM-V" (PDF). Archives of Sexual Behavior. 39 (2): 377–400. doi:10.1007/s10508-009-9574-7. PMID 19937105. S2CID 2190694.
18. ^ American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders (fourth edition, text revision). Washington, DC: Author.
19. ^ Irons, R.; Irons, J. P. (1996). "Differential diagnosis of addictive sexual disorders using the DSM-IV". Sexual Addiction & Compulsivity. 3: 7–21. doi:10.1080/10720169608400096.
20. ^ Psychiatry's bible: Autism, binge-eating updates proposed for 'DSM' USA Today.
21. ^ a b American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing. pp. 481, 797–798. ISBN 978-0-89042-555-8. "Thus, groups of repetitive behaviors, which some term behavioral addictions, with such subcategories as "sex addiction," "exercise addiction," or "shopping addiction," are not included because at this time there is insufficient peer-reviewed evidence to establish the diagnostic criteria and course descriptions needed to identify these behaviors as mental disorders."
22. ^ Rachael Rettner (6 December 2012). "'Sex Addiction' Still Not Official Disorder". LiveScience. Retrieved 2 January 2013.
23. ^ "2017/18 ICD-10-CM Diagnosis Code F52.8: Other sexual dysfunction not due to a substance or known physiological condition". Icd10data.com. Retrieved 28 December 2017.
24. ^ "compulsive sexual behavior disorder"."
25. ^ Ley, David J. (24 January 2018). "Compulsive Sexual Behavior Disorder in ICD-11". Psychology Today. Retrieved 28 November 2018.
26. ^ Patrick Carnes; David Delmonico; Elizabeth Griffin (2001). In the Shadows of the Net. p. 31. ISBN 1-59285-149-5.
27. ^ Goodman, Aviel (1998). Sexual Addiction: An Integrated Approach. Madison, Connecticut: International Universities Press. pp. 233–234. ISBN 978-0-8236-6063-6.
28. ^ "What is Sex Addiction and Sex Addict FAQs". Understanding Sexual Addiction. Retrieved 17 October 2020.
29. ^ a b "You are being redirected..." Iitap.com. Retrieved 28 December 2017.
30. ^ "2011 New definition of addiction: Addiction is a chronic brain disease, not just bad behavior or bad choices". Retrieved 15 August 2011.
31. ^ "2011 Addiction Now Defined As Brain Disorder, Not Behavior Issue". Retrieved 15 August 2011.
32. ^ "2011 ASAM: The Definition of Addiction". Retrieved 12 April 2011.
33. ^ Mitchell, Stephen (1995). Freud and Beyond: A History of Modern Psychoanalytic Thought. New York: Basic Books. ISBN 978-0-465-01405-7.
34. ^ Hull J. W.; Clarkin J. F.; Yeomans F. (1993). "Borderline personality disorder and impulsive sexual behavior". Psychiatric Services. 44 (10): 1000–1001. doi:10.1176/ps.44.10.1000. PMID 8225264.
35. ^ a b "AASECT Position on Sex Addiction – AASECT:: American Association of Sexuality Educators, Counselors and Therapists". Aasect.org. Retrieved 28 December 2017.
36. ^ "Addiction to Sex and/or Pornography: A Position Statement from the Center for Positive Sexuality (CPS), The Alternative Sexualities Health Research Alliance (TASHRA), and the National Coalition for Sexual Freedom (NCSF)" (PDF). Journal of Positive Sexuality. 3: 40. 2017. Retrieved 28 December 2017.
37. ^ "Association for the Treatment of Sexual Abusers : Statement about sexual addiction, sexual abuse, and effective treatment" (PDF). Atsa.com. 16 November 2017. Retrieved 28 December 2017.
38. ^ a b c d e f g h i j k l m n o p q r s t u v w Olsen CM (December 2011). "Natural rewards, neuroplasticity, and non-drug addictions". Neuropharmacology. 61 (7): 1109–1122. doi:10.1016/j.neuropharm.2011.03.010. PMC 3139704. PMID 21459101. "Cross-sensitization is also bidirectional, as a history of amphetamine administration facilitates sexual behavior and enhances the associated increase in NAc DA ... As described for food reward, sexual experience can also lead to activation of plasticity-related signaling cascades. The transcription factor delta FosB is increased in the NAc, PFC, dorsal striatum, and VTA following repeated sexual behavior (Wallace et al., 2008; Pitchers et al., 2010b). This natural increase in delta FosB or viral overexpression of delta FosB within the NAc modulates sexual performance, and NAc blockade of delta FosB attenuates this behavior (Hedges et al, 2009; Pitchers et al., 2010b). Further, viral overexpression of delta FosB enhances the conditioned place preference for an environment paired with sexual experience (Hedges et al., 2009). ... In some people, there is a transition from "normal" to compulsive engagement in natural rewards (such as food or sex), a condition that some have termed behavioral or non-drug addictions (Holden, 2001; Grant et al., 2006a). ... In humans, the role of dopamine signaling in incentive-sensitization processes has recently been highlighted by the observation of a dopamine dysregulation syndrome in some patients taking dopaminergic drugs. This syndrome is characterized by a medication-induced increase in (or compulsive) engagement in non-drug rewards such as gambling, shopping, or sex (Evans et al, 2006; Aiken, 2007; Lader, 2008).""Table 1"
39. ^ a b c d e f Blum K, Werner T, Carnes S, Carnes P, Bowirrat A, Giordano J, Oscar-Berman M, Gold M (2012). "Sex, drugs, and rock 'n' roll: hypothesizing common mesolimbic activation as a function of reward gene polymorphisms". Journal of Psychoactive Drugs. 44 (1): 38–55. doi:10.1080/02791072.2012.662112. PMC 4040958. PMID 22641964. "It has been found that deltaFosB gene in the NAc is critical for reinforcing effects of sexual reward. Pitchers and colleagues (2010) reported that sexual experience was shown to cause DeltaFosB accumulation in several limbic brain regions including the NAc, medial pre-frontal cortex, VTA, caudate, and putamen, but not the medial preoptic nucleus. Next, the induction of c-Fos, a downstream (repressed) target of DeltaFosB, was measured in sexually experienced and naive animals. The number of mating-induced c-Fos-IR cells was significantly decreased in sexually experienced animals compared to sexually naive controls. Finally, DeltaFosB levels and its activity in the NAc were manipulated using viral-mediated gene transfer to study its potential role in mediating sexual experience and experience-induced facilitation of sexual performance. Animals with DeltaFosB overexpression displayed enhanced facilitation of sexual performance with sexual experience relative to controls. In contrast, the expression of DeltaJunD, a dominant-negative binding partner of DeltaFosB, attenuated sexual experience-induced facilitation of sexual performance, and stunted long-term maintenance of facilitation compared to DeltaFosB overexpressing group. Together, these findings support a critical role for DeltaFosB expression in the NAc in the reinforcing effects of sexual behavior and sexual experience-induced facilitation of sexual performance. ... both drug addiction and sexual addiction represent pathological forms of neuroplasticity along with the emergence of aberrant behaviors involving a cascade of neurochemical changes mainly in the brain's rewarding circuitry."
40. ^ a b c d Pitchers KK, Vialou V, Nestler EJ, Laviolette SR, Lehman MN, Coolen LM (February 2013). "Natural and drug rewards act on common neural plasticity mechanisms with ΔFosB as a key mediator". J. Neurosci. 33 (8): 3434–3442. doi:10.1523/JNEUROSCI.4881-12.2013. PMC 3865508. PMID 23426671. "Drugs of abuse induce neuroplasticity in the natural reward pathway, specifically the nucleus accumbens (NAc), thereby causing development and expression of addictive behavior. ... Together, these findings demonstrate that drugs of abuse and natural reward behaviors act on common molecular and cellular mechanisms of plasticity that control vulnerability to drug addiction, and that this increased vulnerability is mediated by ΔFosB and its downstream transcriptional targets. ... Sexual behavior is highly rewarding (Tenk et al., 2009), and sexual experience causes sensitized drug-related behaviors, including cross-sensitization to amphetamine (Amph)-induced locomotor activity (Bradley and Meisel, 2001; Pitchers et al., 2010a) and enhanced Amph reward (Pitchers et al., 2010a). Moreover, sexual experience induces neural plasticity in the NAc similar to that induced by psychostimulant exposure, including increased dendritic spine density (Meisel and Mullins, 2006; Pitchers et al., 2010a), altered glutamate receptor trafficking, and decreased synaptic strength in prefrontal cortex-responding NAc shell neurons (Pitchers et al., 2012). Finally, periods of abstinence from sexual experience were found to be critical for enhanced Amph reward, NAc spinogenesis (Pitchers et al., 2010a), and glutamate receptor trafficking (Pitchers et al., 2012). These findings suggest that natural and drug reward experiences share common mechanisms of neural plasticity"
41. ^ "What is a Sex Addict". Understanding Sexual Addiction. Retrieved 17 October 2020.
42. ^ Koob GF, Volkow ND (August 2016). "Neurobiology of addiction: a neurocircuitry analysis". Lancet Psychiatry. 3 (8): 760–773. doi:10.1016/S2215-0366(16)00104-8. PMC 6135092. PMID 27475769. "Drug addiction represents a dramatic dysregulation of motivational circuits that is caused by a combination of exaggerated incentive salience and habit formation, reward deficits and stress surfeits, and compromised executive function in three stages. The rewarding effects of drugs of abuse, development of incentive salience, and development of drug-seeking habits in the binge/intoxication stage involve changes in dopamine and opioid peptides in the basal ganglia. The increases in negative emotional states and dysphoric and stress-like responses in the withdrawal/negative affect stage involve decreases in the function of the dopamine component of the reward system and recruitment of brain stress neurotransmitters, such as corticotropin-releasing factor and dynorphin, in the neurocircuitry of the extended amygdala. The craving and deficits in executive function in the so-called preoccupation/anticipation stage involve the dysregulation of key afferent projections from the prefrontal cortex and insula, including glutamate, to the basal ganglia and extended amygdala. Molecular genetic studies have identified transduction and transcription factors that act in neurocircuitry associated with the development and maintenance of addiction that might mediate initial vulnerability, maintenance, and relapse associated with addiction. ... Substance-induced changes in transcription factors can also produce competing effects on reward function.141 For example, repeated substance use activates accumulating levels of ΔFosB, and animals with elevated ΔFosB exhibit exaggerated sensitivity to the rewarding effects of drugs of abuse, leading to the hypothesis that ΔFosB might be a sustained molecular trigger or switch that helps initiate and maintain a state of addiction.141,142"
43. ^ Ruffle JK (November 2014). "Molecular neurobiology of addiction: what's all the (Δ)FosB about?". Am. J. Drug Alcohol Abuse. 40 (6): 428–437. doi:10.3109/00952990.2014.933840. PMID 25083822. S2CID 19157711. "
The strong correlation between chronic drug exposure and ΔFosB provides novel opportunities for targeted therapies in addiction (118), and suggests methods to analyze their efficacy (119). Over the past two decades, research has progressed from identifying ΔFosB induction to investigating its subsequent action (38). It is likely that ΔFosB research will now progress into a new era – the use of ΔFosB as a biomarker. ...
Conclusions
ΔFosB is an essential transcription factor implicated in the molecular and behavioral pathways of addiction following repeated drug exposure. The formation of ΔFosB in multiple brain regions, and the molecular pathway leading to the formation of AP-1 complexes is well understood. The establishment of a functional purpose for ΔFosB has allowed further determination as to some of the key aspects of its molecular cascades, involving effectors such as GluR2 (87,88), Cdk5 (93) and NFkB (100). Moreover, many of these molecular changes identified are now directly linked to the structural, physiological and behavioral changes observed following chronic drug exposure (60,95,97,102). New frontiers of research investigating the molecular roles of ΔFosB have been opened by epigenetic studies, and recent advances have illustrated the role of ΔFosB acting on DNA and histones, truly as a ‘‘molecular switch’’ (34). As a consequence of our improved understanding of ΔFosB in addiction, it is possible to evaluate the addictive potential of current medications (119), as well as use it as a biomarker for assessing the efficacy of therapeutic interventions (121,122,124). Some of these proposed interventions have limitations (125) or are in their infancy (75). However, it is hoped that some of these preliminary findings may lead to innovative treatments, which are much needed in addiction."
44. ^ Biliński P, Wojtyła A, Kapka-Skrzypczak L, Chwedorowicz R, Cyranka M, Studziński T (2012). "Epigenetic regulation in drug addiction". Ann. Agric. Environ. Med. 19 (3): 491–496. PMID 23020045. "For these reasons, ΔFosB is considered a primary and causative transcription factor in creating new neural connections in the reward centre, prefrontal cortex, and other regions of the limbic system. This is reflected in the increased, stable and long-lasting level of sensitivity to cocaine and other drugs, and tendency to relapse even after long periods of abstinence. These newly constructed networks function very efficiently via new pathways as soon as drugs of abuse are further taken ... In this way, the induction of CDK5 gene expression occurs together with suppression of the G9A gene coding for dimethyltransferase acting on the histone H3. A feedback mechanism can be observed in the regulation of these 2 crucial factors that determine the adaptive epigenetic response to cocaine. This depends on ΔFosB inhibiting G9a gene expression, i.e. H3K9me2 synthesis which in turn inhibits transcription factors for ΔFosB. For this reason, the observed hyper-expression of G9a, which ensures high levels of the dimethylated form of histone H3, eliminates the neuronal structural and plasticity effects caused by cocaine by means of this feedback which blocks ΔFosB transcription"
45. ^ a b c d e f Nestler EJ (December 2012). "Transcriptional mechanisms of drug addiction". Clin. Psychopharmacol. Neurosci. 10 (3): 136–143. doi:10.9758/cpn.2012.10.3.136. PMC 3569166. PMID 23430970. "ΔFosB has been linked directly to several addiction-related behaviors ... Importantly, genetic or viral overexpression of ΔJunD, a dominant negative mutant of JunD which antagonizes ΔFosB- and other AP-1-mediated transcriptional activity, in the NAc or OFC blocks these key effects of drug exposure14,22–24. This indicates that ΔFosB is both necessary and sufficient for many of the changes wrought in the brain by chronic drug exposure. ΔFosB is also induced in D1-type NAc MSNs by chronic consumption of several natural rewards, including sucrose, high fat food, sex, wheel running, where it promotes that consumption14,26–30. This implicates ΔFosB in the regulation of natural rewards under normal conditions and perhaps during pathological addictive-like states."
46. ^ Kanehisa Laboratories (2 August 2013). "Alcoholism – Homo sapiens (human)". KEGG Pathway. Retrieved 10 April 2014.
47. ^ "Sex Addiction Counseling". Understanding Sexual Addiction. Retrieved 17 October 2020.
48. ^ Hollon SD, Beck AT (2013). "Chapter 11 Cognitive and Cognitive-Behavioral Therapies". In MJ Lambert (ed.). Bergin and Garfield's Handbook of Psychotherapy and Behavior Change (6th ed.). Hoboken, NJ: John Wiley & Sons. pp. 393–394. ISBN 9781118418680.
49. ^ Stefanie Carnes. Mending a Shattered Heart: A Guide for Partners of Sex Addicts. Gentle Path Press; Second Edition. (4 October 2011) page 139 ISBN 978-0-9826505-9-2
50. ^ "NoFap » About". NoFap LLC. Retrieved 22 May 2015. "NoFap was originally founded by Alexander Rhodes on June 20, 2011 as a forum on the social media platform 'Reddit' and has since grown to become much more".
51. ^ Cowell, Tom (17 September 2013). "No fapping, please, it's making us ill". The Telegraph. London, England: Telegraph Media Group. Retrieved 22 May 2015.
52. ^ McMahon, Tamsin (20 January 2014). "Will quitting porn improve your life?: A growing 'NoFap' movement of young men are saying no to porn and masturbation". Maclean's. Toronto, Canada: Rogers Media. Retrieved 22 May 2015.
53. ^ Heitz, David. "Insurers and Medicaid Cover It. So What's Behind the Slow Adoption of Truvada PrEP?". Healthline.
54. ^ https://www.1843magazine.com/features/can-you-really-be-addicted-to-sex
55. ^ Augustine Fellowship (June 1986). Sex and Love Addicts Anonymous. Augustine Fellowship. ISBN 0-9615701-1-3. OCLC 13004050.
56. ^ http://www.atsa.com/sex-addiction-sexual-abuse-and-effective-treatment-0
57. ^ Francoeur, R. T. (1994). Taking sides: Clashing views on controversial issues in human sexuality, p. 25. Dushkin Pub. Group.
58. ^ Kingston, D. A.; Firestone, P. (2008). "Problematic hypersexuality: A review of conceptualization and diagnosis". Sexual Addiction and Compulsivity. 15 (4): 284–310. doi:10.1080/10720160802289249. S2CID 53418034.
59. ^ "Compulsive sexual behavior – Symptoms and causes – Mayo Clinic". Mayoclinic.com. Retrieved 28 December 2017.
60. ^ a b Levine, M. P.; Troiden, R. R. (1988). "The myth of sexual compulsivity". Journal of Sex Research. 25 (3): 347–363. doi:10.1080/00224498809551467. Archived from the original on 2 February 2014.
61. ^ Giles, J. (2006). "No such thing as excessive levels of sexual behavior". Archives of Sexual Behavior. 35 (6): 641–642. doi:10.1007/s10508-006-9098-3. PMID 17109229. S2CID 32718200.
62. ^ "What is Love Addiction". Understanding Sexual Addiction. Retrieved 17 October 2020.
63. ^ a b c d Klein, Marty (June–July 2003). "Sex Addiction: A Dangerous Clinical Concept". The Free Library. Retrieved 6 July 2020.
## Further reading[edit]
Books that provide overview history and treatment techniques for sexual addiction include:
* Out of the Shadows: Understanding Sex Addiction by Patrick Carnes. (Hazelden, 1983) ISBN 978-1-56838-621-8
* Sex and Love Addicts Anonymous: The Basic Text for the Augustine Fellowship (Augustine Fellowship, 1986) ISBN 978-0-9615-7011-8
* Sex Lies and Forgiveness: Couples Speaking Out on Healing from Sex Addiction by Jennifer P. Schneider and Burt Schneider. (Recovery Resources Press, 1991) ISBN 978-0-06-255343-0
* Don't Call It Love: Recovery From Sexual Addiction by Bantam, Patrick Carnes. (1992) ISBN 978-0-553-35138-5
* Sex Addiction: Case Studies And Management by Ralph H. Earle and Marcus R. Earle. (Brunner/Mazel, 1995) ISBN 978-0-87630-785-4
* Sexual Addiction: An Integrated Approach by Aviel Goodman. (International Universities Press, 1998) ISBN 978-0-8236-6063-6
* Breaking the Cycle: Free Yourself from Sex Addiction, Porn Obsession, and Shame by George N. Collins, Andrew Adleman. (New Harbinger Publications, 2011) ISBN 978-1-60882-083-2
Books focusing on partners of sex addicts:
* My Secret Life with a Sex Addict – from discovery to recovery by Emma Dawson. (Thornton Publishing, 2004) ISBN 978-1-932344-70-7
* Hope After Betrayal: Healing When Sexual Addiction Invades Your Marriage by Meg Wilson. (Kregel Publications, 2007) ISBN 978-0-8254-3935-3
* Deceived: Facing Sexual Betrayal Lies and Secrets by Claudia Black. (Hazelden, 2009) ISBN 978-1-59285-698-5
* Your Sexually Addicted Spouse: How Partners Can Cope and Heal by Barbara Steffens and Marsha Means. (New Horizon Press, 2009) ISBN 978-0-88282-309-6
* Mending a Shattered Heart: A Guide for Partners of Sex Addicts by Stefanie Carnes. (Gentle Path Press, 2011) ISBN 978-0-9774400-6-1
* Love You, Hate the Porn: Healing a Relationship Damaged by Virtual Infidelity by Mark Chamberlain. (Shadow Mountain; 2 July 2011 edition, 2011) ISBN 1606419366
* A Couple's Guide to Sexual Addiction: A Step-by-Step Plan to Rebuild Trust and Restore Intimacy by Paldrom Collins and George Collins. (Adams Media, 2011) ISBN 978-1-4405-1221-6
* Facing Heartbreak: Steps to Recovery for Partners of Sex Addicts by Stefanie Carnes. (Gentle Path Press, 2012) ISBN 978-0-98327-133-8
Discussions of the concept of sexual addiction:
* Masters, William H.; Johnson, Virginia E.; Kolodny, Robert C. (1995). "Chapter 17, the section "Sexual Addictions: Fact or Fad?"". Human Sexuality (5 ed.). Harper Collins Publishers. ISBN 9780673467850.
* Dunning, Brian (31 December 2019). "Skeptoid #708: All About Sex Addiction". Skeptoid.
* v
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Reinforcement disorders: Addiction and Dependence
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Outline of human sexuality
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* Anal sex
* Bareback
* BDSM
* Child sex
* Creampie
* Edging
* Erotic sexual denial
* Fetishism
* Fingering
* Fisting
* Gang bang
* Group sex
* Masturbation
* Mechanics of sex
* Nipple stimulation
* Non-penetrative sex
* Facial
* Foot fetishism
* Footjob
* Forced orgasm
* Frot
* Handjob
* Mammary intercourse
* Sumata
* Oral sex
* 69
* Anilingus
* Cunnilingus
* Fellatio
* Irrumatio
* Paraphilia
* Pompoir
* Quickie
* Sex in space
* Sex positions
* Sexual fantasy
* Sexual fetishism
* Sexual intercourse
* Foreplay
* Sexual penetration
* Swinging
* Tribadism
* Urethral intercourse
* Urolagnia
* Virtual sex
* Cybersex
* Erotic talk
* Wet T-shirt contest
Sex industry
* Red-light district
* Adult video games
* Erotica
* Pornography
* Film actor
* Prostitution
* Survival sex
* Sex museum
* Sex shop
* Sex tourism
* Child
* Female
* Sex worker
* Sex toy
* doll
* Strip club
* Webcam model
Religion and
sexuality
* Buddhism
* Christian demonology
* Daoism
* Islam
* Mormonism
* Sex magic
* Human sexuality portal
* v
* t
* e
Human sexuality and sexology
Sexual relationship
phenomena
* Asexuality
* Gray asexuality
* Bisexuality
* Casual relationship
* Casual sex
* Celibacy
* Celibacy syndrome
* Herbivore men
* Committed relationship
* Conventional sex
* Free love
* Foreplay
* Heterosexuality
* Homosexuality
* Hypersexuality
* Marriage
* One-night stand
* Polyamory
* Promiscuity
* Female
* Romantic love
* Romantic orientation
* Flirting
* Sex life
* Sexual abstinence
* Sexual orientation
* Sexual partner
* Single person
* Swinging
Sexual dynamics
* Hypergamy
* Intersex
* Physical attractiveness
* Sexual attraction
* Sexual capital
* Sexual ethics
* Sexual frustration
* Sociosexuality
See also
* Sexual addiction
* Sex Addicts Anonymous
* Sex-positive movement
* Sexual surrogate
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| Sexual addiction | c0679145 | 2,193 | wikipedia | https://en.wikipedia.org/wiki/Sexual_addiction | 2021-01-18T18:33:18 | {"icd-10": ["F52.7"], "wikidata": ["Q2735540"]} |
A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-11 (HLD11) is caused by homozygous or compound heterozygous mutation in the POLR1C gene (610060) on chromosome 6p21.
Description
Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Clinical Features
Thiffault et al. (2015) reported 8 unrelated patients with hypomyelinating leukodystrophy. All had neurologic abnormalities, including delayed psychomotor development, loss or lack of independent ambulation, abnormal cognition, tremor, ataxia, spasticity, and cerebellar findings. Three had myopia and 3 had dental abnormalities. Six patients were too young to be assessed for hypogonadotropic hypogonadism, and 2 did not have hypogonadism. Brain imaging showed hypomyelination and thin corpus callosum in all patients, with cerebellar atrophy in 5 patients.
Inheritance
The transmission pattern of HLD11 in the families reported by Thiffault et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 8 patients with HLD11 who were negative for mutations in the POLR3A (614258) and POLR3B (614366) genes, Thiffault et al. (2015) identified 13 homozygous or compound heterozygous mutations in the POLR1C gene (see, e.g., 610060.0006-610060.0011). Mutations in the first 3 patients were found by whole-exome sequencing and segregated with the disorder in the families; subsequent mutations were found by direct sequencing of the POLR1C gene in 16 individuals with a similar phenotype who were negative for POLR3A and POLR3B mutations. In vitro functional expression studies of 2 of the mutations (N74S; 610060.0006 and N32I; 610060.0007) in HeLa cells showed that the mutant proteins interacted less well with POLR3 than did wildtype, suggesting a selective defect in POLR3 assembly that did not affect POLR1 assembly. Immunofluorescence and immunoprecipitation studies showed cytoplasmic accumulation of mutated POLR1C subunits and reduced binding to POLR3-transcribed genes. In contrast, there was no difference between mutant and wildtype POLR1C in binding to POLR1-transcribed genes. The findings indicated that these mutations specifically interfered with assembly, nuclear import, and chromatin association of POLR3.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Head titubations (in some patients) Eyes \- Myopia (in some patients) Teeth \- Dental abnormalities (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Tremor \- Loss or lack of independent ambulation (in some patients) \- Tremor (in some patients) \- Ataxia (in some patients) \- Spasticity (in some patients) \- Brain imaging shows hypomyelination \- Leukodystrophy \- Thin corpus callosum \- Cerebellar atrophy (in some patients) MISCELLANEOUS \- Onset in first years of life \- Some patients may show deterioration with infections MOLECULAR BASIS \- Caused by mutation in the RNA polymerase I, subunit C gene (POLR1C, 610060.0006 ) ▲ Close
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*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| LEUKODYSTROPHY, HYPOMYELINATING, 11 | c2676243 | 2,194 | omim | https://www.omim.org/entry/616494 | 2019-09-22T15:48:40 | {"doid": ["0060792"], "mesh": ["C567313"], "omim": ["616494"], "orphanet": ["88637"], "genereviews": ["NBK99167"]} |
Dermatitis gangrenosa
Other namesGangrene of the skin
SpecialtyDermatology
Dermatitis gangrenosa is a cutaneous condition caused by infection by Clostridium resulting in a necrosis and sloughing of the skin.[1]:268
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| Dermatitis gangrenosa | c3264462 | 2,195 | wikipedia | https://en.wikipedia.org/wiki/Dermatitis_gangrenosa | 2021-01-18T18:39:26 | {"umls": ["C3264462"], "icd-10": ["L08.0"], "wikidata": ["Q5262688"]} |
Inflammation of a joint capsule
Capsulitis
Joint capsule(articular capsule)
SpecialtyOrthopedic
In anatomy, capsulitis is inflammation of a capsule.[1]
Types include:
* Adhesive capsulitis of shoulder
* Plica syndrome, which is an inflammation of the articular capsule of the knee joint
## See also[edit]
* Articular capsule
## References[edit]
1. ^ "two/000016880" at Dorland's Medical Dictionary
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| Capsulitis | c0263907 | 2,196 | wikipedia | https://en.wikipedia.org/wiki/Capsulitis | 2021-01-18T18:50:00 | {"mesh": ["D002062"], "umls": ["C0263907"], "wikidata": ["Q5036401"]} |
WHIM syndrome
WHIM syndrome has an autosomal dominant pattern of inheritance.
SpecialtyImmunology
Symptomslow red blood cells a higher risk of infections
WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Pathophysiology[edit]
WHIM syndrome results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4,[1][2] resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. The truncation of the receptor protein results in the inability of downregulation after stimulation. Thus, the receptor remain in an activated state.[3] WHIM syndrome is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking.[citation needed]
An association with GRK3 has also been observed.[4]
## Diagnosis[edit]
Patients exhibit increased susceptibility to bacterial and viral infections, especially from common serotype human papilloma virus, resulting in warts on the hands and feet starting in childhood. Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). In addition, lymphocytes and IgG antibody levels (gammaglobulins) are often deficient.[citation needed]
## Treatment[edit]
Infusions of immune globulin can reduce the frequency of bacterial infections, and G-CSF or GM-CSF therapy improves blood neutrophil counts.[5]
As WHIM syndrome is a molecular disease arising from gain-of-function mutations in CXCR4, preclinical studies identified plerixafor, a specific CXCR4 antagonist, as a potential mechanism-based therapeutic for the disease.[6] Two subsequent clinical trials involving a handful of patients with WHIM syndrome demonstrated that plerixafor could increase white blood cell counts and continues to be a promising targeted therapy.[7][8]
A woman with spontaneous remission of her WHIM syndrome due to chromothripsis in one of her blood stem cells has been identified. [9][10]
In support of these studies, a 2014 phase I clinical trial treated 3 patients diagnosed with WHIM syndrome with plerixafor twice a day for 6 months. All three patients presented with multiple reoccurring infections before treatment and all had an increase in their white blood cell count post treatment. One patient (P3) had a decrease in his infections by 40% while the remaining 2 patients (P1 and P2) had no infections throughout the entirety of the treatment. Plerixafor may also prove to have anti-human papillomavirus (HPV) properties as all patients experienced a shrinkage or complete disappearance of their warts. While this treatment shows promise in treating neutropenia (decreased white blood cells), this trial showed no increase of immune globulins in the body.[11] A phase III clinical trial has been approved to compare the infection prevention ability of plerixafor versus the current treatment of G-CSF in patients with WHIM.[12]
## References[edit]
1. ^ Hernandez PA, Gorlin RJ, Lukens JN, et al. (May 2003). "Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease". Nat. Genet. 34 (1): 70–4. doi:10.1038/ng1149. PMID 12692554. S2CID 25010857.
2. ^ Kawai T, Choi U, Cardwell L, et al. (January 2007). "WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4". Blood. 109 (1): 78–84. doi:10.1182/blood-2006-05-025296. PMC 1785067. PMID 16946301.
3. ^ Lagane B, Chow KY, Balabanian K, et al. (July 2008). "CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome" (PDF). Blood. 112 (1): 34–44. doi:10.1182/blood-2007-07-102103. PMID 18436740.
4. ^ Balabanian K, Levoye A, Klemm L, et al. (March 2008). "Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling". J. Clin. Invest. 118 (3): 1074–84. doi:10.1172/JCI33187. PMC 2242619. PMID 18274673.
5. ^ Wetzler M, Talpaz M, Kleinerman ES, et al. (1990). "A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia". Am. J. Med. 89 (5): 663–72. doi:10.1016/0002-9343(90)90187-i. PMID 2239986.
6. ^ McDermott DH, Lopez J, Deng F, et al. (2011). "AMD3100 is a potent antagonist at CXCR4(R334X), a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome". J. Cell. Mol. Med. 15 (10): 2071–81. doi:10.1111/j.1582-4934.2010.01210.x. PMC 3071896. PMID 21070597.
7. ^ McDermott DH, et al. (2011). "The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome". Blood. 118 (18): 4957–62. doi:10.1182/blood-2011-07-368084. PMC 3208300. PMID 21890643.
8. ^ Dale DC, et al. (Nov 2011). "The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome". Blood. 118 (18): 4963–6. doi:10.1182/blood-2011-06-360586. PMC 3673761. PMID 21835955.
9. ^ Kaiser, Jocelyn (5 February 2015). "Shattered chromosome cures woman of immune disease". Science.
10. ^ David H. McDermott; Ji-Liang Gao; Qian Liu; Marie Siwicki; Craig Martens; Paejonette Jacobs; Daniel Velez; Erin Yim; Christine R. Bryke; Nancy Hsu; Zunyan Dai; Martha M. Marquesen; Elina Stregevsky; Nana Kwatemaa; Narda Theobald; Debra A. Long Priel; Stefania Pittaluga; Mark A. Raffeld; Katherine R. Calvo; Irina Maric; Ronan Desmond; Kevin L. Holmes; Douglas B. Kuhns; Karl Balabanian; Françoise Bachelerie; Stephen F. Porcella; Harry L. Malech; Philip M. Murphy (5 February 2015). "Chromothriptic Cure of WHIM Syndrome". Cell. 160 (4): 686–699. doi:10.1016/j.cell.2015.01.014. ISSN 0092-8674. PMC 4329071. PMID 25662009.
11. ^ McDermott, David H.; Liu, Qian; Velez, Daniel; Lopez, Lizbeeth; Anaya-O’Brien, Sandra; Ulrick, Jean; Kwatemaa, Nana; Starling, Judy; Fleisher, Thomas A. (2014-04-10). "A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor". Blood. 123 (15): 2308–2316. doi:10.1182/blood-2013-09-527226. ISSN 0006-4971. PMC 3983611. PMID 24523241.
12. ^ "Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. Retrieved 2017-02-25.
## External links[edit]
Classification
D
* ICD-10: D81.8
* OMIM: 193670
* MeSH: C536697
* DiseasesDB: 32165
* v
* t
* e
Lymphoid and complement disorders causing immunodeficiency
Primary
Antibody/humoral
(B)
Hypogammaglobulinemia
* X-linked agammaglobulinemia
* Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia
* IgA deficiency
* IgG deficiency
* IgM deficiency
* Hyper IgM syndrome (1
* 2
* 3
* 4
* 5)
* Wiskott–Aldrich syndrome
* Hyper-IgE syndrome
Other
* Common variable immunodeficiency
* ICF syndrome
T cell deficiency
(T)
* thymic hypoplasia: hypoparathyroid (Di George's syndrome)
* euparathyroid (Nezelof syndrome
* Ataxia–telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
* Hyper IgM syndrome (1)
Severe combined
(B+T)
* x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
* Omenn syndrome
* ZAP70 deficiency
* Bare lymphocyte syndrome
Acquired
* HIV/AIDS
Leukopenia:
Lymphocytopenia
* Idiopathic CD4+ lymphocytopenia
Complement
deficiency
* C1-inhibitor (Angioedema/Hereditary angioedema)
* Complement 2 deficiency/Complement 4 deficiency
* MBL deficiency
* Properdin deficiency
* Complement 3 deficiency
* Terminal complement pathway deficiency
* Paroxysmal nocturnal hemoglobinuria
* Complement receptor deficiency
* v
* t
* e
Cell surface receptor deficiencies
G protein-coupled receptor
(including hormone)
Class A
* TSHR (Congenital hypothyroidism 1)
* LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
* FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
* GnRHR (Gonadotropin-releasing hormone insensitivity)
* EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
* AVPR2 (Nephrogenic diabetes insipidus 1)
* PTGER2 (Aspirin-induced asthma)
Class B
* PTH1R (Jansen's metaphyseal chondrodysplasia)
Class C
* CASR (Familial hypocalciuric hypercalcemia)
Class F
* FZD4 (Familial exudative vitreoretinopathy 1)
Enzyme-linked receptor
(including
growth factor)
RTK
* ROR2 (Robinow syndrome)
* FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
* FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
* FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
* INSR (Donohue syndrome
* Rabson–Mendenhall syndrome)
* NTRK1 (Congenital insensitivity to pain with anhidrosis)
* KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
STPK
* AMHR2 (Persistent Müllerian duct syndrome II)
* TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
* TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
GC
* GUCY2D (Leber's congenital amaurosis 1)
JAK-STAT
* Type I cytokine receptor: GH (Laron syndrome)
* CSF2RA (Surfactant metabolism dysfunction 4)
* MPL (Congenital amegakaryocytic thrombocytopenia)
TNF receptor
* TNFRSF1A (TNF receptor associated periodic syndrome)
* TNFRSF13B (Selective immunoglobulin A deficiency 2)
* TNFRSF5 (Hyper-IgM syndrome type 3)
* TNFRSF13C (CVID4)
* TNFRSF13B (CVID2)
* TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
Lipid receptor
* LRP: LRP2 (Donnai–Barrow syndrome)
* LRP4 (Cenani–Lenz syndactylism)
* LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
* LDLR (LDLR Familial hypercholesterolemia)
Other/ungrouped
* Immunoglobulin superfamily: AGM3, 6
* Integrin: LAD1
* Glanzmann's thrombasthenia
* Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
* PTCH1 (Nevoid basal-cell carcinoma syndrome)
* BMPR1A (BMPR1A juvenile polyposis syndrome)
* IL2RG (X-linked severe combined immunodeficiency)
See also
cell surface receptors
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| WHIM syndrome | c0472817 | 2,197 | wikipedia | https://en.wikipedia.org/wiki/WHIM_syndrome | 2021-01-18T18:45:25 | {"gard": ["9297"], "mesh": ["C536697"], "umls": ["C0472817"], "orphanet": ["51636"], "wikidata": ["Q1258463"]} |
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance.
This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Cystic fibrosis causes progressive damage to the respiratory system and chronic digestive system problems. Many men with congenital bilateral absence of the vas deferens do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.
## Frequency
This condition is responsible for 1 percent to 2 percent of all infertility in men.
## Causes
Mutations in the CFTR gene cause congenital bilateral absence of the vas deferens.
More than half of all men with this condition have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When congenital bilateral absence of the vas deferens occurs with CFTR mutations and without other features of cystic fibrosis, the condition is considered a form of atypical cystic fibrosis.
The protein made from the CFTR gene forms a channel that transports negatively charged particles called chloride ions into and out of cells. The flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues.
Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells in the male genital tract produce mucus that is abnormally thick and sticky. This mucus clogs the vas deferens as they are forming, causing them to deteriorate before birth.
In instances of congenital bilateral absence of the vas deferens without a mutation in the CFTR gene, the cause of this condition is often unknown. Some cases are associated with other structural problems of the urinary tract.
### Learn more about the gene associated with Congenital bilateral absence of the vas deferens
* CFTR
## Inheritance Pattern
When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Men with this condition who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| Congenital bilateral absence of the vas deferens | c0403814 | 2,198 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens/ | 2021-01-27T08:25:00 | {"gard": ["5461"], "mesh": ["C535984"], "omim": ["277180"], "synonyms": []} |
A number sign (#) is used with this entry because retinitis pigmentosa-28 (RP28) is caused by homozygous or compound heterozygous mutation in the FAM161A gene (613596) on chromosome 2p15.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Gu et al. (1999) described a consanguineous Indian family in which 4 members in 2 generations had autosomal recessive RP. Age of onset was between 5 and 15 years. The 3 oldest members, aged 39 to 47, had severe visual handicap.
Langmann et al. (2010) studied 3 German patients with RP28 and reviewed the phenotype of the Indian family studied by Gu et al. (1999), stating that this type of retinal dystrophy shows no unique clinical features. The course of the disease is rather slow, with age of onset in the second or third decade, severe visual handicap in the fifth decade, and legal blindness in the sixth to seventh decades. However, the youngest Indian patient had early onset of disease, at 5 years of age, and more rapid progression, with a visual acuity at age 15 of 3/60 in the left eye and the right eye reduced to counting fingers. Langmann et al. (2010) concluded that RP28 represents a variable phenotype in terms of disease onset and progression, which could be due to genetic or environmental modifiers.
Bandah-Rozenfeld et al. (2010) studied 20 families from Israel and the Palestinian territories with RP28, noting that clinical manifestations varied but were largely within the spectrum associated with autosomal recessive RP. On funduscopy, pallor of the optic discs and attenuation of the blood vessels were common, but bone spicule-like pigmentation was often mild or lacking. Most patients had nonrecordable electroretinogram responses and constriction of visual fields upon diagnosis. Bandah-Rozenfeld et al. (2010) suggested that modifier genes and/or environmental factors might play a role in this variable retinal phenotype.
Mapping
By homozygosity mapping, Gu et al. (1999) found close linkage of the disorder in an Indian family to several markers on chromosome 2, with a maximum 2-point lod score of 3.07 at theta = 0.0 with D2S380. Linkage and haplotype analysis indicated that the locus, designated RP28, maps to 2p15-p11.
By homozygosity mapping in 20 families from Israel and the Palestinian territories segregating autosomal recessive RP, Bandah-Rozenfeld et al. (2010) found large homozygous regions on chromosome 2p; they identified 2 haplotypes that shared an approximately 4-Mb homozygous region overlapping the RP28 locus, an interval containing 22 annotated genes.
Molecular Genetics
Using traces of DNA from 1 of the patients with retinitis pigmentosa (RP) mapping to 2p15-p11 studied by Gu et al. (1999), Langmann et al. (2010) analyzed the candidate gene FAM161A and identified a homozygous mutation (R229X; 613596.0001). The mutation was present in all 4 affected members of the family, whereas unaffected relatives were either heterozygous or carried wildtype alleles. Screening of FAM161A in 118 patients from Germany with recessive or sporadic forms of RP revealed the presence of another homozygous mutation (R437X; 613596.0002) in 3 patients; the mutation cosegregated with disease in the respective families and was not found in 400 ethnically matched control chromosomes.
In 20 families from Israel and the Palestinian territories segregating autosomal recessive RP mapping to chromosome 2p15, Bandah-Rozenfeld et al. (2010) analyzed 12 candidate genes and identified homozygosity or compound heterozygosity for 3 truncating mutations in the FAM161A gene (1355delCA, 613596.0003; R523X, 613596.0004; R596X, 613596.0005, respectively). The 1355delCA and R523X mutations were determined to be founder mutations in the Israeli Jewish population, and the 1355delCA had an estimated carrier frequency of 1:32 in individuals of North African Jewish ancestry.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitors
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
| RETINITIS PIGMENTOSA 28 | c0035334 | 2,199 | omim | https://www.omim.org/entry/606068 | 2019-09-22T16:10:47 | {"doid": ["0110365"], "mesh": ["D012174"], "omim": ["606068"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
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