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  • Leukotriene Receptor Antagonist-Associated Churg–strauss Syndrome Wikipedia
    External links [ edit ] Classification D ICD - 10 : Y55.6 ICD - 9-CM : E945.7 v t e Adverse drug reactions Antibiotics Penicillin drug reaction Sulfonamide hypersensitivity syndrome Urticarial erythema multiforme Adverse effects of fluoroquinolones Red man syndrome Jarisch–Herxheimer reaction Hormones Steroid acne Steroid folliculitis Chemotherapy Chemotherapy-induced acral erythema Chemotherapy-induced hyperpigmentation Scleroderma-like reaction to taxanes Hydroxyurea dermopathy Exudative hyponychial dermatitis Anticoagulants Anticoagulant-induced skin necrosis Warfarin necrosis Vitamin K reaction Texier's disease Immunologics Adverse reaction to biologic agents Leukotriene receptor antagonist-associated Churg–Strauss syndrome Methotrexate-induced papular eruption Adverse reaction to cytokines Other drugs Anticonvulsant hypersensitivity syndrome Allopurinol hypersensitivity syndrome Vaccine adverse event Eczema vaccinatum Bromoderma Halogenoderma Iododerma General Skin and body membranes Acute generalized exanthematous pustulosis Bullous drug reaction Drug-induced acne Drug-induced angioedema Drug-related gingival hyperplasia Drug-induced lichenoid reaction Drug-induced lupus erythematosus Drug-induced nail changes Drug-induced pigmentation Drug-induced urticaria Stevens–Johnson syndrome Injection site reaction Linear IgA bullous dermatosis Toxic epidermal necrolysis HIV disease-related drug reaction Photosensitive drug reaction Other Drug-induced pseudolymphoma Fixed drug reaction Serum sickness-like reaction This cutaneous condition article is a stub .
  • Familial Adenomatous Polyposis 4 OMIM
    Each patient carried a truncating mutation on 1 allele and a splice site mutation on the other allele, all with a loss-of-function effect.
    MSH3
  • Tooth Agenesis, Selective, 8 OMIM
    INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Sparse eyebrows (in some patients) Teeth - Selective tooth agenesis of permanent dentition - Small teeth - Cone-shaped teeth - Shovel-shaped teeth SKIN, NAILS, & HAIR Skin - Dry skin (in some patients) Hair - Sparse eyebrows (in some patients) - Sparse hair (in some patients) - Lighter-colored hair (in some patients) MISCELLANEOUS - Lateral incisors are the most frequently missing teeth MOLECULAR BASIS - Caused by mutation in the wingless-type MMTV integration site family, member-10B gene (WNT10B, 601906.0003 ) ▲ Close
    WNT10B
  • Blister Beetle Dermatitis Wikipedia
    The term "blister beetle dermatitis" is also occasionally and inappropriately used as a synonym for Paederus dermatitis , a somewhat different dermatitis caused by contact with pederin , an irritant in the hemolymph of a different group of beetles, the rove beetles . [2] Contents 1 Symptoms 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Symptoms [ edit ] After skin comes in contact with cantharidin, local irritation begins within a few hours. [3] (This is in contrast to Paederus dermatitis, where symptoms first appear 12–36 hours after contact with rove beetles.) [4] Painful blisters appear, but scarring from these epidermal lesions is rare. [5] Diagnosis [ edit ] Typical Vesicles/Blister at site where beetle salivates. [ citation needed ] Treatment [ edit ] Wash with soap and water.
  • Langerhans Cell Histiocytosis Orphanet
    It may result in aesthetic or functional sequelae with variable expression depending on the sites involved (deafness, respiratory or hepatic failure, diabetes insipidus, growth hormone deficiency, and cerebellar syndrome).
    BRAF, MAPK1, MAP2K1, CD1A, EPHB2, CD207, RAF1, ZHX2, MAP2K7, S100A1, S100B, TP53, IL17A, IL1B, LHCGR, PIK3CD, TNFRSF11B, IL1A, TNF, PECAM1, ARAF, SMUG1, JAG2, SPP1, PIK3CA, AR, PIK3CB, NRAS, PIK3CG, SOST, FOXP3, RELN, CD14, CD68, CCL22, NOTCH1, CD83, TNFSF11, POSTN, GNA11, PLEKHA6, TNFRSF1A, NR0B2, TUBA1A, UCHL1, U2AF1, PDGFRA, IGK, PTPN6, STAB1, GNA14, AMACR, S100A9, TRBV20OR9-2, STK11, CCL17, FADD, FSCN1, CFLAR, AKT1, PDGFB, PAX5, HLA-A, GSN, GNAQ, FSHR, FLT3LG, DCX, CTLA4, CSF2, CSF1, CCR7, CCR6, CDKN2A, CDKN1A, CDK5, CD34, CD86, CASP8, BCL2, CCND1, HLA-DRB1, HTC2, IFNG, KITLG, PAFAH1B1, OAT, NTRK3, XIAP, MYD88, MPO, MMP12, MME, MAP3K1, IFNGR1, LYZ, LIF, KIT, KIR2DL4, JAK2, INSL3, IL1RN, IGH, SLC29A3
    • Langerhans Cell Histiocytosis GARD
      Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes , a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. The symptoms of LCH vary from person to person, depending on the areas of the body affected. LCH may be found in many areas of the body, including but not limited to the skin and nails, mouth, bones, lymph nodes, pituitary gland, and thyroid gland.
    • Chronic Multifocal Langerhans Cell Histiocytosis Wikipedia
      . ^ a b Chang, Karen L.; Snyder, David S. (2007). "17. Langerhans Cell Histiocytosis" .
    • Langerhans Cell Histiocytosis MedlinePlus
      Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin , lymph nodes, spleen , lungs, liver , and bone marrow. In Langerhans cell histiocytosis, excess immature Langerhans cells usually form tumors called granulomas. Many researchers now consider Langerhans cell histiocytosis to be a form of cancer, but this classification remains controversial. In approximately 80 percent of affected individuals, one or more granulomas develop in the bones, causing pain and swelling.
    • Langerhans Cell Histiocytosis OMIM
      LCH is a rare disorder in which granulomatous deposits occur at multiple sites within the body, but which often involves the hypothalamopituitary axis (HPA).
  • Muckle-Wells Syndrome MedlinePlus
    Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.
    NLRP3, ZEB2, PLCG2, NLRC4, MME, IL1B, IL1A, CASP1, MEFV, TNF, SLC9A3R2, SCAF11, GEMIN2, TNFRSF1A, ATN1, MAPK1, EBI3, NLRP12, NOD2, CRK, ADA2, POLDIP2, RNF19A, AHSA1, CRP, RET, GRAP2, MAPK14, IL18R1, IL1RN, AIMP2, IL18, NT5E, BTK
    • Muckle–wells Syndrome Wikipedia
      Brian Goldman , presents a real-life study of the self-diagnosis by and successful treatment of a father and daughter with Muckle–Wells syndrome [ citation needed ] In the episode of popular TV series House , the main patient of the Season 7 episode Recession Proof is ultimately diagnosed with this condition. [ citation needed ] In an episode of TV series Cake Boss , Buddy Valastro works with a girl with this condition through Make-A-Wish Foundation . [ citation needed ] See also [ edit ] Familial cold urticaria , a similar disease List of cutaneous conditions NOMID , a similar disease Urticarial syndromes CINCA Syndrome References [ edit ] ^ ORPHANET - About rare diseases - About orphan drugs ^ Mariathasan S, Weiss DS, Newton K, McBride J, O'Rourke K, Roose-Girma M, Lee WP, Weinrauch Y, et al.
    • Muckle-Wells Syndrome Orphanet
      Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). Epidemiology The prevalence of MWS is unknown. However a French survey through genetic laboratories has reported 135 cases and estimated CAPS prevalence at 1/360,000. Clinical description MWS onset is variable but patients usually present within the first few years of life with recurrent peak of fever (max of 39-40°C, starting generally in the evening (circadian pattern) and lasting a few hours, with a variable recurrence during a week. Intense general malaise and chills occur at the same time and lead to severe disability. Non-pruriginous urticarial rash (diffuse, erythematous, edematous plaques on a background of generalized, faintly erythematous patches) is a key feature of CAPS and is generally present with marked intensification during acute episodes.
    • Muckle-Wells Syndrome GARD
      Muckle-Wells syndrome is an autoinflammatory disease , and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye ; progressive sensorineural deafness ; and amyloidosis . It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes medications such as canakinumab and rilonacept.
    • Muckle-Wells Syndrome OMIM
      A number sign (#) is used with this entry because of evidence that Muckle-Wells syndrome is caused by heterozygous mutation in the gene encoding cryopyrin (NLRP3; 606416) on chromosome 1q44. Description Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features. Clinical Features Muckle and Wells (1962) described a family in which urticaria, progressive perceptive deafness, and amyloidosis were combined in a dominantly inherited syndrome. Five generations were affected. Autopsy in 2 patients showed absent organ of Corti, atrophy of the cochlear nerve, and amyloid infiltration of the kidneys.
  • Histiocytoma, Angiomatoid Fibrous OMIM
    Analysis of tumor tissue showed complex rearrangements between chromosomes 2, 12, 16, and 17 were noted on karyotypic study, as well as deletion in the long arm of chromosome 11. A t(12;16) site was investigated using RT-PCR. The FUS gene at 16p11.2 was found to be combined with the ATF1 gene at 12q13, generating a chimeric FUS/ATF1.
    CREB1, EWSR1, ATF1, FUS, DES, IL6, MITF, ALK, GDNF, ETFA, CREM, MUC1, SMARCA1, NAB2, SOX9, STAT6, SLPI, NTRK3, TFE3, ACVRL1, MUC4, CD99, MET, ETV6, ERG, DDIT3, TNFRSF8, TLE1
    • Angiomatoid Fibrous Histiocytoma Orphanet
      A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.
    • Angiomatoid Fibrous Histiocytoma Wikipedia
      Type of tumor which affects children and adolescents Angiomatoid fibrous histiocytoma Micrograph showing an angiomatoid fibrous histiocytoma. H&E stain . Angiomatoid fibrous histiocytoma (AFH) , is a rare soft tissue cancer that affects children and young adults. On November 16, 2020, US MasterChef Junior participant Ben Watkins died from the disease at the age of 14. [1] Contents 1 Pathology 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Pathology [ edit ] It is characterized by cystic blood-filled spaces and composed of histiocyte -like cells. A lymphocytic cuff is common. It often simulates a vascular lesion, and was initially described as doing this. [2] AFH typically has a chromosomal translocation involving the ATF1 gene -- t(12;16) FUS/ATF1 or t(12;22) EWS/ATF1. [3] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( December 2017 ) Treatment [ edit ] This section is empty.
  • Porencephaly Orphanet
    Prognosis Prognosis is variable and depends on the site and extent of the lesion.
    COL4A1, COL4A2, AR, F5, LPA, TUBA1A, TP63, COLGALT1, IS1
    • Porencephaly GARD
      Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia , speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth.
  • Glutathione Peroxidase Deficiency OMIM
    Selenium in the form of selenocysteine is part of its catalytic site. In experimental selenium deficiency in animals and in selenium deficiency that has developed in patients on long-term total parenteral alimentation, GSHPx activity in red blood cells, granulocytes, and platelets is low.
    GPX1
  • Leukemia, Chronic Lymphocytic, Susceptibility To, 5 OMIM
    Patients with these changes had poorer overall survival compared to those without these changes. A binding site for the MIRN34 family was detected in the ZAP70 open reading frame and reduced ZAP70 expression was observed in primary B-CLL cells from a patient with a chromosome 11q+/- deletion, in which MIRN34A (611172), MIRN34B, and MIRN34C were overexpressed.
    POT1, CCND1, TP53, ATM, ARL11, P2RX7, IKZF3, IGHV3-21, IGHG1, RPS15, BCL2, LEF1, DLEU1, IRF4, CFLAR, FARP2, BCL2L11, TSBP1-AS1, FAS, TSBP1, NCAPH2, RREB1, ELL2, QPCT, PRKD2, PCAT1, IPCEF1, DACT3-AS1, C11orf21, SP140, ACOXL-AS1, FAM126B, ULK4, MDS2, LRRC34, DRAIC, CIB3, GGNBP1, BMF, VMP1, CLPTM1L, RFX7, ILRUN, CSRNP1, RHOU, GRAMD1B, RPS6KB1, ACOXL, BANK1, MIR4435-2HG, MYNN, ACTA2, CASC19, SERPINB6, IRF8, SP110, HLA-DQA1, HDLBP, GPR37, PVT1, DTNB, LPP, MGAT5, HLA-DQA2, OAS3, OPRM1, NCK1, CASP10, CASP8, BAK1, HLA-DRB1, SLC35B2, PIK3CD, BTK, MS4A1, LOC102724971, LOC102723407, SELL, KRT20, NOTCH1, CD40LG, IBTK, CD5, IKZF2, CCR8, ETS1, PWWP3A, ETS2, CDKN1B, CD22, CD79A, BTLA, MIR34B, MIR155, RAD51, IFNGR2, PIK3CA, PIK3CG, CCL13, SKP2, TNF, PIM1, TRAF2, CDR3, PIK3CB, KALRN, SLC28A1, CIB1, IGH, RAD51AP1, MME, KMT2A, LTB, IGHV3OR16-7, IGHV3-69-1, ITGAX, ITGA4, IL13, IL7R, IL12A
    • Leukemia, Chronic Lymphocytic, Susceptibility To, 4 OMIM
      For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400. Mapping Di Bernardo et al. (2008) conducted a genomewide association study of 299,983 tagging single-nucleotide polymorphisms (SNPs) for CLL and performed validation in 2 additional series totaling 1,529 cases and 3,115 controls. The authors identified 6 previously unreported CLL risk alleles. Di Bernardo et al. (2008) found the strongest association with rs872071 and rs9378805, which map to a 97-kb block of linkage disequilibrium on chromosome 6p25.3 encompassing the IRF4 gene (601900). The SNP rs872071 maps within the 3-prime untranslated region (UTR) of IRF4, and rs9378805 maps 10 kb centromeric to the 3-prime UTR of IRF4. The overall estimate of effect associated with rs872071 was an odds ratio trend of 1.54 with a 95% confidence interval of 1.41 to 1.69 and a P value of 1.91 x 10(-20).
    • Leukemia, Chronic Lymphocytic, Susceptibility To, 3 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400. Clinical Features Lynch et al. (2002) described a family in which the father and all 4 of his children had CLL. All of the children were male, and 2 were identical twins. CLL was diagnosed at the age of 77 in the father, at the ages of 56 and 54 in the identical twins, and at the ages of 47 and 39 in the other brothers. Mapping Raval et al. (2007) followed up the family studied by Lynch et al. (2002) and identified additional family members, both affected and unaffected. Genomewide linkage analysis identified a region on chromosome 9 between markers D9S175 and D9S1776 with a nonparametric linkage score of 0.96.
    • Leukemia, Chronic Lymphocytic OMIM
      A number sign (#) is used with this entry because chronic lymphocytic leukemia (CLL) is associated with genetic and epigenetic changes in multiple genes. Description Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012). Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831).
    • Leukemia, Chronic Lymphocytic, Susceptibility To, 2 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400. Mapping Roughly 25% of human B-cell chronic lymphocytic leukemias are characterized by a chromosomal lesion involving 13q14. Brown et al. (1993) found that in all except 1 of 11 cases of low-grade B-cell malignancy, with deletions or translocations involving 13q14, the change was in the region of D13S25, with at least 4 cases showing homozygous disruption. They concluded that D13S25 lies close to a tumor suppressor locus whose inactivation contributes to the initiation or progression of low-grade B-cell malignancy. They showed that this locus is at least 530 kb telomeric to RB1. Involvement of RB1 (614041) in CLL could be excluded.
    • Leukemia, Chronic Lymphocytic, Susceptibility To, 1 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400. Mapping To identify a susceptibility gene for CLL, Sellick et al. (2005) conducted a genomewide linkage analysis of 115 pedigrees using a high density single-nucleotide polymorphism (SNP) array. They obtained a maximum nonparametric linkage score (NPL) of 3.14 (P = 0.0008) on 11p11. The same genomic position yielded the highest multipoint heterogeneity lod score under both dominant and recessive models. In addition, 4 other chromosomal positions (5q22-q23, 6p22, 10q25, and 14q32) displayed multipoint heterogeneity lod scores greater than 1.15.
  • Deafness, Autosomal Dominant 28 OMIM
    In the proband of a large 5-generation family segregating autosomal dominant postlingual hearing loss with a highly variable age of onset and progression, who was negative for mutation in the GJB2 gene (121011) and for copy number variation, Vona et al. (2013) screened 80 known deafness-associated genes and identified a heterozygous splice site mutation in the GRHL2 gene (608576.0002) that segregated with disease in the family.
    GRHL2
  • Deafness, Autosomal Recessive 22 OMIM
    Molecular Genetics In a consanguineous Palestinian family with prelingual sensorineural recessive deafness mapping to chromosome 16p13.1-q11.2, Zwaenepoel et al. (2002) identified a homozygous splice site mutation in the OTOA gene (IVS12+2T-C; 607038.0001).
    OTOA
  • Eosinophil Peroxidase Deficiency MedlinePlus
    During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and parasites.
    EPX
    • Eosinophil Peroxidase Deficiency OMIM
      A number sign (#) is used with this entry because of evidence that eosinophil peroxidase deficiency (EXPD) is caused by homozygous or compound heterozygous mutation in the EPX gene (131399) on chromosome 17q22. Description Eosinophil peroxidase deficiency is a rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix (summary by Romano et al., 1994). Nakagawa et al. (2001) noted that there are no clinical symptoms and the diagnosis is made solely by cytochemical analysis. Clinical Features In Yemenite Jews in Israel, Presentey (1969) and Presentey and Szapiro (1969) described a 'new' anomaly of eosinophils characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining. Lepelley et al. (1987) described the Presentey anomaly in twin sisters; one had refractory anemia, which may have been coincidental and merely the symptom that brought the twins to attention.
  • Squamous Metaplasia Wikipedia
    Contents 1 Location 1.1 Uterine cervix 2 Significance 3 See also 4 References Location [ edit ] Common sites for squamous metaplasia include the bladder and cervix .
  • Corneal Dystrophy, Fuchs Endothelial, 6 OMIM
    By direct sequencing of the ZEB1 gene in 82 patients from northern India with late-onset Fuchs endothelial corneal dystrophy, Gupta et al. (2015) identified a novel splice site mutation (IVS2+276C-T) in 11 patients (14%) as well as 2 novel missense mutations and 1 novel nonsense mutation in 1 patient each.
    ZEB1, COL8A2, TCF4, SLC4A11, AGBL1, PTPRG, CFH, KANK4, GATD1, LAMC1, CLU, LOXHD1, TGFBI, OVOL2, MMRN1, PITX2, DMPK, SNAI1, NFE2L2, FN1, CUL3, PARK7, AKAP13, TNR, MFN2, MBNL2, DNM1L, XRCC1, DENR, TP53, UTRN, ACTB, PBK, DICER1, DAPK2, FECD7, FECD3, MIR1236, FECD2, CCR2, MIR29B2, MIR29B1, MIR199B, SBK1, ARHGAP18, ZNF469, NEIL1, PINK1, KIF13A, CHDH, NOX4, VSX1, TGM2, SELE, TF, SOD3, FEN1, ETS1, DMTN, NQO1, CRMP1, COX8A, COL8A1, CDKN2A, CDKN1A, CDH2, CDH1, BDNF, ATP1B1, FASLG, FAS, APOE, APEX1, FGF7, FGF9, FGFR3, PIK3CA, PARP1, CCL21, SAA1, RAD51, PIK3CG, PIK3CD, PIK3CB, MBNL1, GABPA, LIG3, KRT7, IL17A, IGHG1, IFNG, HLA-DRA, GPR35, LOC105378949
    • Corneal Dystrophy, Fuchs Endothelial, 3 OMIM
      A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-3 (FECD3) is caused by heterozygous intronic trinucleotide repeat expansion (CTG)n in the TCF4 gene (602272) on chromosome 18q21. Description Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
    • Fuchs' Dystrophy Wikipedia
      From a review by Klintworth, 2009. [1] Pronunciation / f uː k s ˈ d ɪ s t r ə f i / fooks- DIS -trə-fee Specialty Ophthalmology Fuchs dystrophy , also referred to as Fuchs corneal endothelial dystrophy ( FCED ) and Fuchs endothelial dystrophy ( FED ), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men.
    • Corneal Dystrophy, Fuchs Endothelial, 8 OMIM
      A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-8 (FECD8) is caused by heterozygous mutation in the AGBL1 gene (615496) on chromosome 15q25. Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800).
    • Corneal Dystrophy, Fuchs Endothelial, 5 OMIM
      Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 (136800). Nomenclature The late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 5q33.1-q35.2 is referred to in OMIM as FECD5.
    • Corneal Dystrophy, Fuchs Endothelial, 7 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). Nomenclature This disorder, a late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 9p24.1-p22.1, is referred to in OMIM as FECD7. Some references in the literature (e.g., Riazuddin et al., 2010) use the designation 'FCD4 locus' to refer to the genetic locus for FECD on chromosome 9. Mapping In a large pedigree with late-onset FECD, Riazuddin et al. (2010) identified a Q840P mutation in the ZEB1 gene (189909.0004) in 7 of 12 affected individuals (see FECD6, 613270). A genomewide scan in the pedigree identified an additional locus for FECD on chromosome 9p24.1-p22.1, with a maximum 2-point lod score of 3.48 at D9S256 (theta = 0.00), in 10 of the 12 affected individuals.
    • Corneal Dystrophy, Fuchs Endothelial, 1 OMIM
      A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-1 (FECD1) is caused by heterozygous mutation in the COL8A2 gene (120252) on chromosome 1p34. Description Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane.
    • Corneal Dystrophy, Fuchs Endothelial, 4 OMIM
      A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-4 (FECD4) is caused by heterozygous mutation in the SLC4A11 gene (610206) on chromosome 20p13. Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
    • Corneal Dystrophy, Fuchs Endothelial, 2 OMIM
      Description Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). Nomenclature This disorder, a late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 13pter-q12.13, is referred to in OMIM as FECD2.
    • Fuchs Endothelial Corneal Dystrophy Orphanet
      A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. Epidemiology The exact prevalence is not known but extreme geographical variability has been reported. FECD is the most prevalent corneal dystrophy in the USA but has been found to be uncommon in Saudi Arabia and in Singaporean Chinese, and very rare in Japan. Clinical description The condition is more common and more severe in women (sex ratio 3-4:1). Patients with FECD are initially asymptomatic. Clinical onset is generally in the 5th or 6th decade of life.
    • Fuchs' Dystrophy Mayo Clinic
      Overview In Fuchs' (fewks) dystrophy, fluid builds up in the clear layer (cornea) on the front of your eye, causing your cornea to swell and thicken. This can lead to glare, blurred or cloudy vision, and eye discomfort. Fuchs' dystrophy usually affects both eyes and can cause your vision to gradually worsen over years. Typically, the disease starts in the 30s and 40s, but many people with Fuchs' dystrophy don't develop symptoms until they reach their 50s or 60s. Some medications and self-care steps may help relieve your Fuchs' dystrophy signs and symptoms.
  • Mccune-Albright Syndrome Orphanet
    Clinical description FD can involve single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture.
    GNAS, GH1, COASY, MAS1, MEN1, FGF23, POMC, LINC01672, BRS3, CFP, AMY1A, PRKAR1A, SLC34A1, SSTR4, TSHR, AFP, SUCLG1, AIP, LPAR2, POSTN, CXCR6, MEMO1, RNF216, ACKR3, ADRA2B, PITX2, ENPP1, CGA, NT5E, CFD, EDNRA, GBP1, APRT, GHR, AMY1C, GPR42, HRAS, IGF1, IL6, KRAS, AMY1B, ADRA1A, MFAP1, NR3C2, ADCY1
    • Mccune-Albright Syndrome GARD
      McCune-Albright syndrome (MAS) is a disorder that affects the skin, skeleton, and certain endocrine organs (hormone-producing tissues). Cafe-au-lait spots of the skin are common and are usually the first apparent sign of MAS. The main skeletal feature is fibrous dysplasia , which ranges in severity and can cause various complications. Early skeletal symptoms may include limping, pain, or fracture. Endocrinous features may include precocious puberty especially in girls (resulting of estrogen excess from ovarian cysts), excess growth hormone ; thyroid lesions with possible hyperthyroidism ; renal phosphate wasting, and, rarely, Cushing syndrome caused by an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. MAS is not inherited. MAS is caused by a somatic mutation in a gene called GNAS , which is acquired after an egg is fertilized and only affects some of the body's cells and tissues.
    • Mccune-Albright Syndrome MedlinePlus
      McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face.
    • Mccune–albright Syndrome Wikipedia
      "Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation" . Endocrine Reviews . 41 (2). doi : 10.1210/endrev/bnz011 . ... Retrieved 6 January 2018 . ^ a b Celi, Francesco S.; Coppotelli, Giuseppe; Chidakel, Aaron; Kelly, Marilyn; Brillante, Beth A.; Shawker, Thomas; Cherman, Natasha; Feuillan, Penelope P.; Collins, Michael T. ... PMID 24517150 . ^ Cutler, Carolee M.; Lee, Janice S.; Butman, John A.; FitzGibbon, Edmond J.; Kelly, Marilyn H.; Brillante, Beth A.; Feuillan, Penelope; Robey, Pamela G.; DuFresne, Craig R.; Collins, Michael T. ... PMID 31196103 . ^ Kushchayeva, Yevgeniya S.; Kushchayev, Sergiy V.; Glushko, Tetiana Y.; Tella, Sri Harsha; Teytelboym, Oleg M.; Collins, Michael T.; Boyce, Alison M. ... PMID 30484079 . ^ Florenzano, Pablo; Pan, Kristen S.; Brown, Sydney M.; Paul, Scott M.; Kushner, Harvey; Guthrie, Lori C.; de Castro, Luis Fernandez; Collins, Michael T.; Boyce, Alison M.
    • Mccune-Albright Syndrome OMIM
      The nape of the neck is a commonly involved site. (The cafe-au-lait spots of neurofibromatosis are for the most part smaller, more regular, and more uniformly distributed, and are accompanied by axillary freckling and usually by skin tumors.) ... In contrast, transplantation of clonal populations of mutant cells always led to the loss of transplanted cells from the transplantation site and no ossicle formation. However, transplantation of a mixture of normal and mutant cells reproduced an abnormal ectopic ossicle recapitulating human fibrous dysplasia and providing an in vivo cellular model of this disease. ... The authors concluded that these 2 cases of thyroid carcinoma in MAS supported the hypothesis that activation of the G(s) signaling cascade alone is insufficient for malignant transformation of thyroid or other endocrine cells.
  • Charcot-Marie-Tooth Disease, Recessive Intermediate D OMIM
    At age 8 years, motor nerve conduction velocities (NCV) were 43.4 m/s and 45 m/s, but sensory nerve action potentials were undetectable. ... Electrophysiologic studies at this time showed motor NCV of 35.7 m/s, indicative of a demyelinating neuropathy. ... Electrophysiologic studies showed mildly delayed NCV (45.3 and 49.6 m/s), consistent with an axonal neuropathy.
    COX6A1
    • Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D Orphanet
      Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.
  • Adamantinoma Wikipedia
    Skull Base Surg . 5 (4): 233–44. doi : 10.1055/s-2008-1058921 . PMC 1656531 . PMID 17170964 . ^ a b c Ernest U. ... PMID 18279517 . ^ a b Hatori M, Watanabe M, Hosaka M, Sasano H, Narita M, Kokubun S (May 2006). "A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature" . ... Am Assoc Dent Sch Trans . 7 : 240–245. ^ Madhup, R; Kirti, S; Bhatt, M; Srivastava, M; Sudhir, S; Srivastava, A (Jan 2006).
    • Adamantinoma Orphanet
      A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed. Epidemiology AD represent between 0.1 and 0.5% of all primary malignant bone tumors. The life time prevalence in Europe is estimated to be 1/900,000. Males are more commonly affected and in the latter case the tumor is more aggressive. Clinical description AD affects individuals over a wide age range (2-86 years), but 75% occurs in the mature skeleton within the second and third decades.
    • Adamantinoma Of Long Bones OMIM
      Adamantinoma of the long bones is a rare, low-grade malignant neoplasm of unknown histogenesis, which affects mainly the tibia of young adults (Keeney et al., 1989). Sozzi et al. (1990) demonstrated a translocation t(7;13)(q32;q14) in a lung metastasis from an adamantinoma of the tibia in a boy who showed the same translocation constitutionally (in normal fibroblasts and lymphoid cells). The identical translocation was found in his normal father. The breakpoint in chromosome 13 was in the same region as that in retinoblastoma (180200). The level of esterase D was normal in the patient and his parents. Oncology - Adamantinoma of long bones Inheritance - Autosomal dominant ▲ Close
  • Total Enclosure Fetishism Wikipedia
    See also [ edit ] Bondage (BDSM) Bondage hood BDSM Partialism Mummification (BDSM) Sources [ edit ] Gillian Freeman , " The Undergrowth of Literature ", Nelson, 1967, pp. 141–143 David Kunzle, "Fashion and fetishism: a social history of the corset, tight-lacing, and other forms of body-sculpture in the West", Rowman and Littlefield, 1982, ISBN 0-8476-6276-4 , p. 39 Simon LeVay, Sharon McBride Valente, "Human sexuality", Sinauer Associates , 2006, ISBN 0-87893-465-0 , p. 494 http://en.wikifur.com/wiki/Murrsuit v t e Sexual fetishism Actions, states Aquaphilia Autassassinophilia Coprophilia Cuckold / Cuckquean Emetophilia Erotic hypnosis Erotic lactation Erotic spanking Exhibitionism Forced seduction Gaining and feeding Medical fetishism Omorashi Paraphilic infantilism (adult baby) Pregnancy Smoking Tickling Total enclosure Transvestic Tightlacing Tamakeri Urolagnia Vorarephilia Wet and messy fetishism Body parts Armpit Breast Belly Buttocks Eyeball Fat Feet Hands Height Hair Legs Navels Noses Clothing Boots Ballet boots Boot worship Thigh-high boots Clothing Corset Diapers Gloves Pantyhose Latex Rubber and PVC Shoes Spandex Underwear Uniforms Objects Balloons Dolls Latex and PVC Robots Spandex Controversial / illegal Lust murder Necrophilia Rape fantasy Zoophilia Culture / media Artists Fetish art Fetish clubs Fashion Magazines Models Race Asian sexual fetishism Ethnic pornography Sexual racism Related topics BDSM FetLife International Fetish Day Kink Leather subculture Leather Pride flag Sexual roleplay Book Category v t e Outline of BDSM Glossary Index Bondage and discipline B&D or B/D Animal roleplay Bondage hood Bondage positions and methods Bondage suit Collar Equipment Erotic sexual denial Erotic tickling Forced orgasm Head bondage Hogtie bondage Human furniture In culture and media Interrogation scene Japanese bondage Law Metal bondage Mummification Organizations Positions Predicament bondage Rope bondage Self-bondage Sensation play Spreadeagle position Suspension bondage Total enclosure Dominance and submission D&S or D/s Ageplay Bladder desperation Body worship Boot worship Dominatrix Erotic humiliation Facesitting Fear play Female submission Feminization Male dominance Male submission Master/slave Medical fetishism Rape fantasy Forced seduction Servitude Sadomasochism S&M or S/M Breast torture Caning Cock and ball torture Erotic asphyxiation Erotic electrostimulation Erotic spanking Figging Impact play Knife play Play piercing Pussy torture Temperature play Urethral sounding Violet wand Wax play In fiction Related topics Consent Dungeon monitor Edgeplay Edging Feminist views on BDSM Gorean subculture International Fetish Day Kink Leathermen Leather Pride flag Limits Munch Pegging Play Play party Risk-aware consensual kink Safeword Sexual fetishism Sexual roleplay Top, bottom, switch Writers Laura Antoniou Pauline Réage Catherine Robbe-Grillet Leopold von Sacher-Masoch John Norman Commentators and theorists Gloria Brame Patrick Califia Dossie Easton Janet Hardy Trevor Jacques Fakir Musafar Gayle Rubin Organizations FetLife Universities with BDSM clubs Category This sexuality -related article is a stub .
  • Chronic Subjective Dizziness Wikipedia
    The findings are argued to imply nVNS to be a safe and promising treatment option in patients with treatment-refractory PPPD and suggesting the need for further research. [6] History [ edit ] Perhaps the first account of CSD was the German neurologist Karl Westphal 's portrayal in the late 1800s of people who suffered dizziness , anxiety and spatial disorientation when shopping in town squares. ... Retrieved 29 January 2017 . ^ Koganemaru, S; Goto, F; Arai, M; Toshikuni, K; Hosoya, M; Wakabayashi, T; Yamamoto, N; Minami, S; Ikeda, S; Ikoma, K; Mima, T (2017).
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