-
Pancreatic Cancer, Susceptibility To, 1
Omim
The primary characteristics included early age at onset (median age 43 years) and high penetrance (more than 80%) of pancreatic cancer. Some family members developed pancreatic insufficiency before the onset of cancer. ... Zogopoulos et al. (2007) identified a P239S germline mutation in 1 of 84 patients with familial or early-onset pancreatic cancer and in 1 of 555 controls. The patient with the mutation was diagnosed at age 74 years, had a first-degree relative with pancreatic cancer, and another first-degree relative with melanoma. The 91-year-old control had no relatives with cancer.
-
Limb Body Wall Complex
Wikipedia
"Limb-body wall complex associated with cocaine abuse: further evidence of cocaine's teratogenicity". Obstetrics and Gynecology . 80 (3 Pt 2): 523–6. PMID 1386662 . ^ Davisson MT, Schmidt C, Akeson EC (1990). ... Progress in Clinical and Biological Research . 360 : 263–80. PMID 2147289 . ^ Gasnier F, Lerme F, Rousson R, Roussouly P, Vaganay E, Louisot P, Gateau-Roesch O (May 1991). ... Clinica Chimica Acta; International Journal of Clinical Chemistry . 199 (1): 69–82. doi : 10.1016/0009-8981(91)90010-A . PMID 1718634 .
-
Breast Hematoma
Wikipedia
Breast Disease (review). 34 (1): 25–8. doi : 10.3233/BD-130344 . PMID 23507668 . ^ Michael S. ... Breast Ultrasound: A Systematic Approach to Technique and Image Interpretation . Thieme. p. 98. ISBN 978-3-13-111531-7 . ^ Ulrich Brinck (January 2004). Practical MR Mammography . Thieme. p. 99. ISBN 978-3-13-132031-5 . ^ W. G.
- Dancing Plague Of 1518 Wikipedia
-
Yunis–varon Syndrome
Wikipedia
American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 . ... American Journal of Human Genetics . 84 (1): 85–88. doi : 10.1016/j.ajhg.2008.12.010 . ... American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 . ... American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 . ... American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 .
-
Aromatase Deficiency
Wikipedia
Aromatase deficiency Other names Congenital estrogen deficiency [1] AES results when the function of aromatase is impaired. ... Thus, RORA deficiency is linked to aromatase deficiency, which in turn can lead to elevated testosterone levels, a proposed risk factor for autism. [6] Complications [ edit ] Pregnant mother [ edit ] Aromatase is an estrogen synthase that synthesize estrone (E1) and estradiol (E2) from Androstenedione and Testosterone respectively. [7] During pregnancy, the placenta , which is fetal tissue, synthesizes large amounts of the intermediates in the biosynthesis of the estrogens, androstenedione and testosterone , but cannot convert them to estrogens due to the absence of aromatase. [7] The levels of accumulated androgens in the mother can elevate 100-fold higher than normal cycling levels which subsequently virilise both the mother and the fetus. ... Summary of known heterozygous mutations in P450 arom (CPY19) gene [4] Gender Mutation Transcription Results Aromatase Activity (%) Female Single base changes in exon X at bp 1303: C to T Cysteine was transcribed instead of Arginine at position 435 (R435C) 1.1 Single base changes in exon X at bp 1310: G to A Tyrosine was transcribed instead of Cysteine at position 437 (C437Y) 0.0 Female Point mutation (G to A) at the splicing point between exon and intron III No transcription 0.0 Base pair deletion occurring at P408 (CCC) in exon IX Nonsense codon 111 bp were transcribed down in the CYP19 0.0 Female Point mutation (GAA to AAA) at bp 628 in exon V Glutamic acid transcribed instead of lysine at position 210 (E210K) 0.0 A Base pair deletion occurring at E412 in exon IX Transcribed a stop codon 98 bp downstream 0.0 Male Point mutation (ATG to AGG) at bp 380 in exon IV Methionine was transcribed instead of arginine at position 127 (M127R) - Point mutation (CGC CAC) at bp 1123 in exon IX 2. ... "Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of oestrogens". J. Clin. Endocrinol. Metab . 80 (12): 3689–98. doi : 10.1210/jc.80.12.3689 . ... External links [ edit ] Classification D ICD - 10 : E25.8 OMIM : 107910 MeSH : C537436 DiseasesDB : 29906 External resources Orphanet : 91 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 b 5 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 v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
-
Trichodysplasia Spinulosa
Wikipedia
Pruritus (itching) has been described in about a third of reported cases. [2] Facial papules are generally 1- to 3-mm in size. [5] : 415 The condition is considered to be benign, but can be disfiguring; the spines are often prominent, and in later stages the affected facial skin thickens noticeably. [2] [3] Causes [ edit ] TS has been reported almost exclusively in immunocompromised patients, primarily organ transplant recipients on regimens of immunosuppressive drugs, and also in patients with hematolymphoid malignancies . [2] [3] As of 2016 there were no case reports in the literature describing cases of TS in patients with HIV-AIDS . [2] There is compelling evidence that trichodysplasia spinulosa is caused by a polyomavirus called trichodysplasia spinulosa polyomavirus (TSPyV) or Human polyomavirus 8 . [2] [3] [1] [6] There is evidence that exposure to the virus is common among healthy adults; estimates of seroprevalence (that is, prevalence of detectable antibodies against viral proteins) in immunocompetent adults range from 70 to 80% in different sample populations. [3] [7] [8] TSPyV infects the skin, but viral DNA is rarely detectable there in asymptomatic individuals even if they possess antibodies to the virus indicating exposure. [3] It is not known whether TS represents new primary infection or opportunistic reactivation of a latent infection. [3] Mechanism [ edit ] The hyperproliferation of keratinocyte inner root sheath cells in which large aggregates of viral particles can be found suggests that TSPyV actively replicates in these cells. ... However, the precise mechanism is not well characterized. [3] There is limited evidence implicating the large tumor antigen as responsible for inducing cellular proliferation through pathways involving phosphorylated retinoblastoma protein (pRB). [9] Diagnosis [ edit ] Overview of histological findings in trichodysplasia spinulosa. Top row (A1-A3) shows healthy control; bottom row (B1-B3) shows TS skin. Low-magnification-power overview (A1, B1); high-power representative examples of epidermis showing thickening of the skin ( acanthosis ) in TS (A2, B2); high-power representative examples of hair follicles showing enlarged and dysmorphic appearance in TS (A3, B3). Inset in B3 shows characteristic eosinophilic protein granules, probably trichohyalin (arrowheads). ... There is compelling evidence that TSPyV is the direct causative agent of TS. [2] [3] References [ edit ] ^ a b van der Meijden E, Janssens RW, Lauber C, Bouwes Bavinck JN, Gorbalenya AE, Feltkamp MC (July 2010). "Discovery of a new human polyomavirus associated with trichodysplasia spinulosa in an immunocompromized patient" .
-
Alvarez' Syndrome
Wikipedia
Trans Assoc Am Physicians . 60 (1 vol): 86–91. PMID 18917246 . ^ Alvarez WC (Aug 1949). "Hysterical type of nongaseous abdominal bloating" . Arch Intern Med . Chicago. 84 (2): 217–245. doi : 10.1001/archinte.1949.00230020020002 .
-
Aleutian Disease
Wikipedia
This practice led to a severe outbreak of AD on a Connecticut ranch, with a mortality of almost 100% in less than 6 months. [5] The disease spread from minks to ferrets, as the two were raised on the same farms. ... Retrieved 7 April 2008 . ^ Porter DD, Larsen AE, Porter HG (May 1973). "The pathogenesis of Aleutian disease of mink. 3. ... PMID 19961696 . ^ ELIMINATION OF PATHOGENIC INFECTION IN FARMED ANIMAL POPULATIONS ^ Canuti M, O'Leary KE, Hunter BD, Spearman G, Ojkic D, Whitney HG, Lang AS (January 2016).
-
Genetics Of Obesity
Wikipedia
The percentage of obesity that can be attributed to genetics varies widely, depending on the population examined, from 6% to 85%. [6] As of 2006, more than 41 sites on the human genome have been linked to the development of obesity when a favorable environment is present. [7] The involvement of genetic factors in the development of obesity is estimated to be 40–70%. ... SH2B1 [22] 16p11.2 MTCH2 [22] 11p11.2 PCSK1 [22] 5q15-q21 NPC1 [23] 18q11-q12 LYPLAL1 [24] 616548 1q41 Disputed metabolic function of being either a lipase [25] or a short-chain carboxylesterase . [26] Some studies have focused upon inheritance patterns without focusing upon specific genes. One study found that 80% of the offspring of two obese parents were obese, in contrast to less than 10% of the offspring of two parents who were of normal weight. [27] The thrifty gene hypothesis postulates that due to dietary scarcity during human evolution people are prone to obesity. ... "Obesity in anaesthesia and intensive care" . Br J Anaesth . 85 (1): 91–108. doi : 10.1093/bja/85.1.91 . ... "A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity" . Science . 316 (5826): 889–94. doi : 10.1126/science.1141634 . PMC 2646098 . PMID 17434869 . ^ Rampersaud E, Mitchell BD, Pollin TI, et al. (2008). "Physical activity and the association of common FTO gene variants with body mass index and obesity" .
-
Amastia
Wikipedia
"Congenital amastia". Indian Journal of Pediatrics . 80 (10): 870–1. doi : 10.1007/s12098-012-0919-1 . ... The Breast . Elsevier. pp. 177–196.e7. doi : 10.1016/b978-0-323-35955-9.00013-1 . ... Breast Physiology . The Breast . Elsevier. pp. 37–56.e6. doi : 10.1016/b978-0-323-35955-9.00003-9 .
-
Microalbuminuria
Wikipedia
Andersen S, Blouch K, Bialek J, Deckert M, Parving HH, Myers BD (2000). "Glomerular permselectivity in early stages of overt diabetic nephropathy". ... Lancet . 355 (9200): 253–9. doi : 10.1016/S0140-6736(99)12323-7 . PMID 10675071 . Lemley KV, Abdullah I, Myers BD, et al. (2000).
- Multifactorial Diseases Wikipedia
-
Somatoparaphrenia
Wikipedia
The link between somatoparaphrenia and paralysis has been documented in many clinical cases, [5] and while the question arises as to whether paralysis is necessary for somatoparaphrenia to occur, anosognosia is not, as documented by cases with somatoparaphrenia and paralysis with no anosognosia. [6] Contents 1 Causes 2 Diagnosis 3 Treatment 4 See also 5 References Causes [ edit ] It has been suggested that damage to the posterior cerebral regions ( temporoparietal junction ) of the cortex may play a significant role in the development of somatoparaphrenia. [7] [8] However, more recent studies have shown that damage to deep cortical regions such as the posterior insula [9] and subcortical structures such as the basal ganglia , [10] the thalamus and the white matter connecting the thalamus to the cortex may also play a significant role in the development of somatoparaphrenia. [11] It has also been suggested that involvement of deep cortical and subcortical grey structures of the temporal lobe may contribute to reduce the sense of familiarity experienced by somatoparaphrenic patients for their paralyzed limb. [11] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( July 2018 ) Treatment [ edit ] One form of treatment that has produced a more integrated body awareness is mirror therapy , in which the individual who denies that the affected limb belongs to their body looks into a mirror at the limb. ... Neurology . 59 (12): 1950–1955. doi : 10.1212/01.wnl.0000038905.75660.bd . PMID 12499489 . ^ Healton E. B.; Navarro C.; Bressman S.; Brust J.
-
East Coast Fever
Wikipedia
Endemic cattle given medication sometimes recover to varying degrees, or death follows due to blocked capillaries and parasites infecting the central nervous system . [7] Cattle in endemic areas which survive infection become carriers. [ citation needed ] For diagnosis, post mortem findings are characteristic and mainly include damage to the lymphoid and respiratory systems. [ citation needed ] Treatment and control [ edit ] One study using the medicinal plant Peganum harmala showed it to have a lifesaving effect on cattle infected with East Coast fever. [8] The classical treatment with tetracyclines (1970–1990) cannot provide efficiency more than 50%. [ citation needed ] Since the early 1990s, buparvaquone is used in bovine theileriosis with remarkable results (90 to 98% recovery). [ citation needed ] Other than the buparvaquones, other chemotherapeutic options are the parvaquones , e.g. ... PMID 22958352 . ^ Norval RA, Perry BD, Young AS (1992). The Epidemiology of Theileriosis in Africa .
-
Non-Syndromic Genetic Deafness
Orphanet
In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. ... Diagnostic methods Hearing loss can be evaluated by audiogram and grouped as either mild (loss between 20 and 40 dB), moderate (loss between 41 and 70 dB), severe (loss between 71 and 90 dB), profound (loss between 91 and 120 dB) or as cophosis (loss beyond 120 dB). Genetic counseling In 85% of cases, the deafness is transmitted as an autosomal recessive trait (DFNB type).
-
Complete Androgen Insensitivity Syndrome
Wikipedia
<0.6 <3.2–25 SHBG (nmol/L) ? ? ? 52 (22–128) 53 (15–99) ? 10–50 30–90 Notes: Values are mean (range) or mean ± standard deviation. ... Epidemiology [ edit ] It is estimated that CAIS occurs in 1 in 20,400 to 1 in 99,000 individuals with a 46,XY karyotype. [93] [94] Nomenclature [ edit ] Main article: Other names for androgen insensitivity syndrome Historically, CAIS has been referred to in the literature under a number of other names, including testicular feminization [syndrome] (deprecated) and Morris syndrome. [95] [96] PAIS has also been referred to as Reifenstein syndrome, which should not be confused with CAIS. [95] [96] History [ edit ] The first definitive description of CAIS was reported in 1817. [97] [98] The condition became more widely known after it was reviewed and named testicular feminization by American gynecologist John McLean Morris in 1953. [98] People with CAIS [ edit ] Georgiann Davis [99] Seven Graham [100] See also [ edit ] Complete estrogen insensitivity syndrome References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Hughes IA, Deeb A (December 2006). ... Clin. Endocrinol. Metab . 20 (4): 577–98. doi : 10.1016/j.beem.2006.11.003 . ... ISBN 978-0-87893-243-6 . ^ a b c d e f g h Oakes MB, Eyvazzadeh AD, Quint E, Smith YR (December 2008). ... Clin. Endocrinol. Metab . 29 (4): 569–80. doi : 10.1016/j.beem.2015.04.005 .AR, FKBP4, SMS, PLAT, RSS, MTNR1B, LBX1, ESR1, LEP, MATN1, IL6, EGFR, ESR2, ADGRG6, PAICS, GART, MTHFR, C20orf181, IGF1, CALM1, F5, TPH1, MT2A, AMH, MTNR1A, MMP3, TSPAN33, TP53, TMPRSS6, BNC2, TNFRSF11B, SIRT1, NTF3, SLC39A8, NCOA2, FBN1, FBN2, LEPR, PYCARD, PAX1, PDXP, GPER1, GPX3, SERPINE1, TIMP2, SHBG, BRD2, TGFB1, SULT1E1, MIR494, VDR, SRY, STS, VEGFA, BDNF, MIR15A, EOS, TP63, ADIPOQ, CST3, IS1, PITX1, SOCS3, POC5, PON1, CTNNB1, PROM1, KAT7, GPR50, PDAP1, SIRT5, TUSC2, PAPOLA, NDRG1, TXN, ADAMTS13, MSC, MRPS30, AKR1C3, CHL1, BEST1, VWF, MYBBP1A, USP8, SMUG1, UXT, TNFSF11, ASAP2, GDF15, AANAT, TMEFF2, MIR145, DPP9, NLRP3, OCIAD2, HJV, NEAT1, C17orf67, SPATA21, MIRLET7I, MIR126, MIR130A, MIR134, MIR183, HECTD1, MIR185, MIR191, MIR192, MIR222, MIR93, PALM2AKAP2, MT1IP, MIR675, CDKN2B-AS1, MIR4300, OCLN, ADGRG7, IL17RC, DOT1L, SPRY4, SETBP1, CNTNAP2, PELP1, CD274, TBX21, ASAP1, ADIPOR1, APH1A, CLEC1B, TNF, MTPAP, LAPTM4B, SOX6, MIB1, PCDH10, MIER1, MID1IP1, SOX17, NUCKS1, AHNAK, IRX1, FUZ, VANGL1, HSD17B7, PSMD4, TIMP1, DLST, CLTC, COL4A2, COL11A1, COL11A2, COMP, MAP3K8, CREBBP, CRP, CYP2C19, DBP, DMD, CHI3L1, DPP4, DUSP2, EPO, F2, F3, FGFR3, FGR, FN1, NR5A1, GAD1, CLU, CDKN2A, THRSP, ASL, ACP3, ACTB, ADRA1D, ALB, APC, APOD, APOE, ARF6, ARG1, ARSF, ATP2A2, CDH13, ATP2B4, BGLAP, BMP4, BTF3P11, CALCA, CALM2, CALM3, CASP3, RUNX2, CD38, GC, GHSR, MSH6, ABO, MT1L, MT1X, NRGN, REG3A, PAX3, PBX1, PLG, PMCH, MAPK7, PSD, RARB, HDAC2, PRPH2, S100A12, SFPQ, SRSF1, ITSN1, SLC4A1, SOX9, SRD5A2, STAT4, TGM2, MT1M, MT1JP, MT1H, MT1G, HGF, HOXA10, HSPG2, IGFBP7, IL1A, IL1B, IL5, IL10, ITGA2B, KLK1, KRAS, LCN2, LGALS1, LGALS3, LRPAP1, KITLG, MKI67, MT1A, MT1B, MT1E, MT1F, H3P10
-
Angelman Syndrome
Wikipedia
In fact, UBE3A codes for a very selective E6-AP ubiquitin ligase for which MAPK1 , PRMT5 , CDK1 , CDK4 , β-catenin , and UBXD8 have been identified as ubiquitination targets [15] Typically, a fetus inherits a maternal copy of UBE3A and a paternal copy of UBE3A. ... Molecular Interventions . 2 (6): 376–91, 339. doi : 10.1124/mi.2.6.376 . PMID 14993414 . ^ Wang, Yiyang, et al. (2017). ... PMID 29263404 . ^ Mabb, AM; Judson, MC; Zylka, MJ; Philpot, BD (May 2011). "Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes" . ... PMID 16574761 . ^ a b c Williams C (2005) "Neurological aspects of the Angelman syndrome" Brain & Development 27: 88–94 ^ Laan, Laura A.E.M.; Vein, Alla A. (2005). "Angelman syndrome: is there a characteristic EEG?". Brain and Development . 27 (2): 80–87. doi : 10.1016/j.braindev.2003.09.013 .UBE3A, CDKL5, MECP2, GABRB3, SNRPN, SNHG14, SYNGAP1, SLC6A1, PRKN, MUL1, ASXL3, CBLL2, KCNQ3, UBE2K, SNURF, OCA2, MKRN3, SLC9A6, PRNP, GABRG3, TCF4, HERC2, SNORD116@, HDAC1, RNF2, PVALB, ATP10A, UROD, STOML3, GABRA5, DYRK1A, MC1R, NIPA1, HTC2, BDNF, CYFIP1, H3P12, COPS2, ATP8A1, ZNF197, HDAC9, EEF1E1, MIR708, LMLN, NPAP1, DDI1, ATRAID, DYM, EPHA6, LAMTOR1, CYP26B1, SLC5A7, HAP1, DERL1, ASPM, NIPA2, TPPP2, TMPRSS13, TUBGCP5, NPAS3, ACTB, HERC1, MEF2C, CAMK2A, CDKN2C, CFL1, CREBBP, CYP11A1, DBI, DNAH8, EP300, ERBB4, ESR1, FOXG1, FMR1, HDAC2, HTR1A, MSMB, CASK, MST1, MTHFR, NDN, NNAT, NR4A2, PAFAH1B1, PSMD4, SCG5, SLC6A3, APP, TOP1, TP53, UBE2I, MAFK, TJP1
- Subvalvular Aortic Stenosis (Canine) Wikipedia
-
Menke-Hennekam Syndrome 2
Omim
Menke et al. (2018) also described a 14-year-old girl from the Netherlands (E2) who had slept unusually much during infancy and did not seem to notice feelings of hunger and had no suck reflex. ... At age 4, speech therapy was started both for speech delay and for swallowing problems, and at age 5 physiotherapy was started because of delay in fine motor skills. She was found to have an IQ of 91 (verbal 101, performance 82). Autism spectrum disorder was also diagnosed. ... Patient E1 had large halluces with fibular deviation, and E2 had normal halluces. Both had normal thumbs.