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  • Nephrotic Syndrome Wikipedia
    The first test will be a urinalysis to test for high levels of proteins, [28] as a healthy subject excretes an insignificant amount of protein in their urine. ... A study of a sample's anatomical pathology may then allow the identification of the type of glomerulonephritis involved. [28] However, this procedure is usually reserved for adults as the majority of children suffer from minimal change disease that has a remission rate of 95% with corticosteroids . [30] A biopsy is usually only indicated for children that are corticosteroid resistant as the majority suffer from focal and segmental glomeruloesclerosis. [30] Further investigations are indicated if the cause is not clear including analysis of auto-immune markers ( ANA , ASOT , C3 , cryoglobulins , serum electrophoresis ), or ultrasound of the whole abdomen. ... Retrieved 8 Sep 2008 . ^ a b "Patient information: The nephrotic syndrome (Beyond the Basics)" . Retrieved 2013-06-28 . ^ James W Lohr, MD. "Rapidly progressive glomerulonephritis" . Retrieved 2013-06-28 . ^ a b c "Frecuencia de las glomerulonefritis y causas de las glomerulonefritis secundarias" .
    NPHS2, A2M, SERPINC1, GPC5, HLA-DRB1, ALB, NPHS1, TGFB1, APOA1, ARHGDIA, KANK1, SERPINE1, COL4A1, COL1A1, TNS2, F3, GUCA2B, IL2, LAMA5, HSD11B2, ACE, SOD2, CD2, PODXL, TF, NCK2, FGF2, COL4A2, NCK1, XPO5, NUP37, CTSL, PTGS2, MPV17, IL1B, APOB, ALOX5, ITSN2, FAT1, EDNRA, KCNJ1, ECE1, DDC, GPAM, IL4, NOS1, ACAT1, SCNN1A, MMP1, LIPC, SMAD1, SOAT2, VLDLR, PPARGC1A, DGAT1, CFL1, SCNN1B, PLA2G7, WT1, PLCE1, TRPC6, OSGEP, ITGA3, LAMB2, COQ2, SGPL1, MYO1E, COQ6, MEFV, GATA3, WDR73, SCARB2, NUP107, EMP2, INF2, PTPRO, COL4A5, CRB2, TP53RK, COQ8B, PDSS2, COX2, GSN, CCND1, PAX2, KANK2, ADA, WDR4, DGKE, IL7R, NLRP3, FGA, C3, TBC1D8B, MAGI2, NUP133, ND1, TRNF, TRNH, ND5, ND4, ZFPM2, ND6, PMM2, PTPRD, PARM1, RAG1, COX1, RAG2, MAP3K1, TBX18, RMRP, WWOX, MARS1, ANLN, COX3, TRNS1, TRNL1, IFT27, IFT172, SRY, SLC17A5, SPP1, STAT4, VAMP7, BBS9, TRIM32, SMARCAL1, SERPINA1, SOX9, FOXP3, LAGE3, NPHP1, TPRKB, PRKCD, ZAP70, WDPCP, TRNW, TRNS2, SDCCAG8, LYZ, TRNQ, MKKS, SAA1, MKS1, BBS5, HLA-DQB1, BBS10, CEP290, GLA, GATA4, NR5A1, FN1, ARL6, LMNB2, BBIP1, CHST14, TTC8, LZTFL1, C8orf37, COL4A4, COL4A3, BBS12, CASP10, C1R, C1QA, BTC, BBS4, BBS2, BBS1, B2M, NR0B1, TSBP1-AS1, ACTN4, DCLRE1C, SNAP29, IL2RG, CHD7, BBS7, AHI1, ZNF592, DMRT3, LMX1B, IRAK1, LIG4, LPA, ACTB, CD80, PCSK9, PLG, CD2AP, ABCB1, APOE, NR3C1, APOL1, PLA2R1, TBC1D9, IGAN1, POMC, THSD7A, ANGPTL4, MIF, VEGFA, LEP, MS4A1, AGT, CABIN1, KRT20, IL18, TNF, SOCS3, F9, MIR192, AGTR1, CMIP, CXCL8, IL13, KTWS, HPSE, KIRREL1, BRAF, INS, LPL, MIR30A, REN, RELA, MTHFR, ANGPT2, CFHR5, MIR586, MIR939, MIR146B, AHSA1, HLP, IL21, SQOR, TET1, OLFM1, PPIF, ACE2, DNM1L, CRELD2, SOCS5, IL22, RNF19A, IL23A, LGALSL, PLB1, KANK4, RBM45, GLCCI1, POLDIP2, MLYCD, MUC16, NPNT, ATAD1, NSD3, MIR16-1, APOM, NFASC, MIR23B, HAVCR1, DDN, MZB1, SYNPO, HT, PHB2, TRIM8, FIS1, PIK3CD, GRAP2, ESR1, F2, F5, FKBP5, FLT1, GCG, GLO1, GSTM1, GSTP1, GSTT1, GUCA2A, HDAC2, CFH, HIF1A, HLA-DQA1, HMBS, HP, HPX, HSPA4, HSPB1, IL1A, IL1R1, IL4R, IL6, IL10, IL12B, EXT1, STOM, MAPKAPK2, EDN1, ADCYAP1, APOA4, AQP1, AQP2, AQP4, STS, BCL2, C1S, VPS51, CALR, CD36, CETP, CLU, CNP, CNTN1, COX8A, CLDN7, CRK, MAPK14, CST3, CTSB, CYP2C19, CYP3A4, CYP3A5, HBEGF, IL17A, KDR, KLKB1, LAMP1, RAB5A, RAC1, RYR2, SALL1, CCL2, CCL13, SDC1, SNAI1, STAT3, STAT5A, TFE3, TFPI, TIMP1, TLR4, TP53, TTR, YWHAZ, MANF, AIMP2, FGF23, PDE5A, RAB11A, IQGAP1, CLDN2, CLDN1, PTH, MAPK1, PLCL1, MUC1, LCAT, LDLR, LEPR, LOX, LRP2, LTA4H, MAF, MC1R, MGP, NR3C2, MPO, MYH9, PLAT, MYOC, NOS3, NOTCH1, NPPC, NT5E, PDR, PIK3CA, PIK3CB, PIK3CG, PKD1, PLA2G1B, MTCO2P12
    • Nephrotic Syndrome Mayo_clinic
      Overview Nephrotic syndrome is a kidney disorder that causes your body to pass too much protein in your urine. Nephrotic syndrome is usually caused by damage to the clusters of small blood vessels in your kidneys that filter waste and excess water from your blood. The condition causes swelling, particularly in your feet and ankles, and increases the risk of other health problems. Kidney cross section The kidneys remove waste and excess fluid from your blood through filtering units called nephrons. Each nephron contains a filter (glomerulus) that has a network of tiny blood vessels called capillaries.
  • Depression In Childhood And Adolescence Wikipedia
    Academic pressure, intrapersonal and interpersonal difficulties, death of loved ones, illnesses, and loss of relationships have shown to be significant stressors in young people. [28] While it is a normal part of development in adolescence to often experience distressing and disabling emotions, there is an increasing incidence of mental illness globally, mainly because of the breakdown in traditional social and family structures. ... People who have low self-esteem, who constantly view themselves and the world with pessimism, or are readily overwhelmed by stress may be especially prone to depression. [28] Community surveys find that women are more likely than men to say they are under stress.
  • Shingles Wikipedia
    Besides the skin, other organs, such as the liver or brain , may also be affected (causing hepatitis or encephalitis , [27] [28] respectively), making the condition potentially lethal. [29] : 380 Pathophysiology [ edit ] Electron micrograph of Varicella zoster virus . ... Multiple studies and surveillance data, at least when viewed superficially, demonstrate no consistent trends in incidence in the U.S. since the chickenpox vaccination program began in 1995. [87] However, upon closer inspection, the two studies that showed no increase in shingles incidence were conducted among populations where varicella vaccination was not as yet widespread in the community. [88] [89] A later study by Patel et al. concluded that since the introduction of the chickenpox vaccine, hospitalization costs for complications of shingles increased by more than $700 million annually for those over age 60. [90] Another study by Yih et al. reported that as varicella vaccine coverage in children increased, the incidence of varicella decreased, and the occurrence of shingles among adults increased by 90%. [91] The results of a further study by Yawn et al. showed a 28% increase in shingles incidence from 1996 to 2001. [92] It is likely that incidence rate will change in the future, due to the aging of the population, changes in therapy for malignant and autoimmune diseases, and changes in chickenpox vaccination rates; a wide adoption of zoster vaccination could dramatically reduce the incidence rate. [8] In one study, it was estimated that 26% of those who contract shingles eventually present complications. ... PMID 24500927 . ^ a b Han Y, Zhang J, Chen N, et al. (28 March 2013). Han Y (ed.). "Corticosteroids for preventing postherpetic neuralgia". ... "The neurotropic herpes viruses: herpes simplex and varicella-zoster". Lancet Neurol. 6 (11): 1015–28. doi : 10.1016/S1474-4422(07)70267-3 . ... "Outbreak of varicella-zoster virus infection among Thai healthcare workers". Infect. Control Hosp. Epidemiol. 28 (4): 430–34. doi : 10.1086/512639 .
    HLA-B, LINC02785, HCP5, TMC7, FAM110B, LRRC32, TNF, CPS1, IL10, HLA-DRB1, HLA-A, ARSA, IFNG, APOE, ESR1, RBM45, CRP, TMPRSS13, TECTA, LMLN, IL33, ENOSF1, GAL, BOD1, PART1, CXCL13, RECQL4, TRPV1, CCR2, THBS1, MIP, STAT3, MUC1, CD34, CCR5, CTLA4, CYP11A1, CYP17A1, EGFR, ETFA, GP2, IL5, IL6, IL7, IL17A, MBL2, MECP2, MSMB, MST1, MTX1, LINC02605
    • Shingles Mayo_clinic
      Overview Shingles is a viral infection that causes a painful rash. Shingles can occur anywhere on your body. It typically looks like a single stripe of blisters that wraps around the left side or the right side of your torso. Shingles is caused by the varicella-zoster virus — the same virus that causes chickenpox. After you've had chickenpox, the virus stays in your body for the rest of your life. Years later, the virus may reactivate as shingles. Shingles isn't life-threatening.
    • Shingles Medlineplus
      Shingles (also known as herpes zoster) results from infection by the varicella zoster virus. This common virus causes chickenpox (also known as varicella), which is characterized by itchy spots on the skin that cover the whole body and usually occurs in childhood or adolescence. After the body fights the initial infection, the varicella zoster virus remains in nerve cells for the rest of a person's life. Because the virus is controlled by immune system cells called T cells , it is generally inactive (latent) and typically causes no health problems. However, in some people, the virus becomes active again (reactivates) and causes shingles.
  • Arsacs Gene_reviews
    Features of ARSACS View in own window Organ System Feature % of Persons with Feature Neurologic Ataxia, kinetic 96% (135/140) 1-6 Ataxia, static 95% (140/146) 1-6 Cognitive decline 5% (3/51) 1, 3 Dysarthria 74% (37/50) (at age 18 yrs) 2 Dysphagia 13% (11/84) 3, 5, 6 Dystonia 7% (5/70) 3, 6 Epilepsy 7% (5/70) 3, 6 Extension plantar response 86% (119/138) 1-5 Linear hypointensities pons (FLAIR) on brain MRI 49% (19/39) 3 Nystagmus 74% (89/120) 1-5 Sensorimotor polyneuropathy 97% (36/37) (axonal 25%; demyelinating 53%; both 14%) 3 Vermis atrophy w/upper predominance on brain MRI 83% (39/47) 3 Neuromuscular/ Developmental Muscle wasting, lower limb 51% (28/54) 3, 4 Muscle wasting, upper limb 19% (8/43) 3, 4 Spasticity, lower limb 75% (77/103) 1-6 Spasticity, upper limb 15% (9/58) 1-6 Stiff legs, isolated, at disease onset 5% 3 Unsteadiness at disease onset 96% (43/45) (isolated 82%; w/stiff legs 11%) 3 Weakness, lower limb 60% (74/124) 1-5 Weakness, upper limb 3% (21/60) 1-5 Wheelchair bound after age 30 yrs 25% (6/24) 3 Ophthalmologic Hypertrophy of retinal myelinated fibers 33% (19/58) 1, 3-6 Hearing Hearing loss 13% (8/62) 1, 4 Other Intellectual disability / school difficulties 29% (28/95) 1-3 Pes cavus 61% (75/123) 1-3 Scoliosis 15% (9/62) 3, 4 Urinary dysfunction 34% (38/111) 1-6 1.
    SACS, ANKFY1, CRMP1, UTRN, DAPK2, DENR, DNM1L, SGCG, TRPS1, SPG7, VIM, LAMP2, AFG3L2, SETX, RIEG2, SUN2, POLG, DCPS, P4HB, APTX, PACC1, COQ8A, SLURP1
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Orphanet
      Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. Epidemiology It was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932. The incidence and prevalence worldwide remain unknown but ARSACS is very rare in other countries with cases described from Turkey, Japan, The Netherlands, Italy, Belgium, France and Spain. Clinical description The age of onset in non-Quebec patients is variable (ranging from late infantile, juvenile to early-adult onset) but in individuals from Quebec, onset occurs between 12 and 18 months of age with gait disturbance and walking difficulties. Other early signs of cerebellar ataxia include dysarthria and nystagmus.
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Medlineplus
      Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia ), and reduced sensation and weakness in the arms and legs (peripheral neuropathy). Additional muscle problems that can occur in ARSACS include muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and difficulty swallowing (dysphagia) and speaking (dysarthria). Other features of ARSACS involve high-arched feet (pes cavus ), a spine that curves to the side (scoliosis ), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina ), urinary tract problems, intellectual disability, hearing loss, and recurrent seizures (epilepsy). An unsteady walking style (gait) is the first symptom of ARSACS. Walking problems usually begin between the ages of 12 months and 18 months, as toddlers are learning to walk.
    • Spastic Ataxia, Charlevoix-Saguenay Type Omim
      A number sign (#) is used with this entry because spastic ataxia of the Charlevoix-Saguenay type (SACS, or ARSACS) is caused by homozygous or compound heterozygous mutation in the gene encoding the sacsin protein (SACS; 604490) on chromosome 13q12 For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). Description Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy (summary by Baets et al., 2010). Clinical Features In French Canada, Bouchard et al. (1978) identified a distinctive form of early-onset spastic ataxia.
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Wikipedia
      Autosomal recessive spastic ataxia of Charlevoix-Saguenay Other names Autosomal recessive spastic ataxia type 6 This condition is inherited in an autosomal recessive manner Specialty Neurology Autosomal recessive spastic ataxia of Charlevoix-Saguenay ( ARSACS ) is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region. [1] [2] This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, France and Spain. [3] [4] The prevalence has been estimated at about 1 in 1,900 in Quebec, but it is very rare elsewhere. [4] Contents 1 Symptoms 2 Genetics 3 Diagnosis 4 Prognosis 5 References 6 External links Symptoms [ edit ] ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps. At this time, it manifests as a lack of coordination and balance resulting in frequent falls. Some of the signs and symptoms include: [5] stiffness of the legs appendicular and trunk ataxia hollow foot and hand deformities ataxic dysarthria distal muscle wasting horizontal gaze nystagmus spasticity [6] Genetics [ edit ] The inheritance pattern is autosomal recessive . The disorder is caused by mutations in the SACS gene on chromosome 13 . [7] It is unclear as to how these mutations affect the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of ARSACS. [8] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( March 2018 ) Prognosis [ edit ] Most patients begin to use a wheelchair for movement around age 30–40. [9] Death usually occurs in their 60s, but some have been reported to live longer. [4] References [ edit ] ^ Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB (October 1998).
  • Turner Syndrome Wikipedia
    Strangely, Turner syndrome seems to be associated with unusual forms of partial anomalous venous drainage. [24] [28] In a patient with Turner syndrome, these left-sided cardiovascular malformations can result in an increased susceptibility to bacterial endocarditis. ... Aortic dilation, dissection, and rupture [ edit ] Two studies have suggested aortic dilatation in Turner syndrome, typically involving the root of the ascending aorta and occasionally extending through the aortic arch to the descending aorta, or at the site of previous coarctation of the aorta repair. [29] A study that evaluated 28 girls with Turner syndrome found a greater mean aortic root diameter in people with Turner syndrome than in the control group (matched for body surface area).
    GH1, SOD1, SOD2, NOS2, CAT, NR5A1, SRY, SHOX, IGF1, GHR, IGFBP3, AMH, AR, WT1, HTC2, TP53, EFHC2, BRD2, XIC, RPS4X, TPO, ESR1, DMRT1, MTHFR, ZFY, XIST, VDR, SOX9, KDM6A, TG, MAP3K1, PTPN22, CD38, HLA-A, SSRP1, ARSL, PWAR1, HT, SLC52A2, SHBG, NT5E, GAPDH, TNFRSF11B, RPS4Y1, RPS2, TIMP1, NIPBL, NR0B1, PTPN1, F2R, DMD, POMC, DAZ1, NR1I2, STATH, TSHR, TSHB, TYMS, SULT2A1, STAR, TIMP3, UTY, VAMP7, AFP, VEGFA, ZFAT, PHPT1, LGALS13, SOX8, FOXP3, PPP2R3C, LHX9, DHX37, VWF, VSPA, WDR34, RBM45, NDUFS7, POU5F1P3, POU5F1P4, SPIDR, ZFPM2, MLC1, DMRT2, PAICS, MAMLD1, BCL2L11, ADIPOQ, PPIG, SMC3, MBD2, SOCS2, SLC4A4, SMC1A, USP9X, MOGS, ZFX, SRD5A2, RAD21, SOX3, CYP19A1, H2AX, NR3C1, GRB10, GNAS, GLS, GDF9, GCH1, GCG, GART, FGF9, FANCA, EGFR, CYP21A2, CTLA4, HLA-DRB1, CSF2RA, CSF2, CRP, COX8A, CDX2, CDK4, SERPING1, BGN, BDNF, ASAH1, APOA1, XIAP, AMELX, HLA-C, IFNA1, SOS2, MTR, SOS1, SLC6A8, SCN5A, RS1, RFC1, RARRES2, PTH, POU5F1, PGD, PCYT1A, PAPPA, MYOD1, MYO9B, MMP1, IFNA13, MCL1, MBL2, MAOB, LPA, KRAS, KIT, ANOS1, INPPL1, INS, IL3RA, IL3, IGFALS, IGF2, CERNA3
    • Turner Syndrome Medlineplus
      Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile).
    • Turner Syndrome Mayo_clinic
      Overview Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists.
    • Turner Syndrome Orphanet
      Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. Epidemiology Its prevalence has been estimated at 1 in 5,000 live births (1 in 2,500 female births). Clinical description Clinical features are heterogeneous and typical physical anomalies are often mild or absent. Short stature is present in all cases. Ovarian failure, with variable onset depending on the chromosomal anomalies, is frequent. Other visceral manifestations (bone anomalies, lymphoedema, deafness, and cardiovascular, thyroid and gastrointestinal involvement) are less common but should be screened for at diagnosis, then monitored during adolescence and adulthood.
  • Auditory Hallucination Wikipedia
    Transverse temporal gyri (Heschl's gyri) : found within the primary auditory cortex . [28] Left temporal lobe : processes semantics in speech and vision, includes primary auditory cortex. [10] Broca's area : speech and language comprehension. [10] Superior temporal gyrus : contains primary auditory cortex. [10] Primary auditory cortex : processes hearing and speech perception. [10] Globus pallidus : Regulation of voluntary movement. [11] Treatments [ edit ] Medication [ edit ] The primary means of treating auditory hallucinations is antipsychotic medications which affect dopamine metabolism . ... "Spontaneous perception of melodies – hallucination or epilepsy?". Nervenheilkunde . 28 : 217–221. ISSN 0722-1541 . ^ a b c d e f g h i j Hugdahl K, Løberg EM, Nygård M (May 2009).
    HOMER1, CACNA1A, CPOX, SON, CLN6, DNAJC5, CCKAR, ADA, NRG1, CFP, ATXN7, SLC6A3, SKAP2, FOXP2
  • Papillary Thyroid Cancer Wikipedia
    The treatment may be repeated 6–12 months after initial treatment of metastatic disease where disease recurs or has not fully responded. [28] Patients are administered hormone replacement levothyroxine for life after surgery, especially after total thyroidectomy. ... Coauthors: Silvia Gagliardi and Andrew Scott Kennedy. Updated: Sep 28, 2010 ^ "New York Thyroid Center: Prognosis Staging for Thyroid Cancer" .
    BRAF, NKX2-1, CCDC6, RET, FOXE1, NCOA4, PPARG, KRAS, PAX8, NTRK1, NRAS, DIRC3, NTRK3, ETV6, ALK, GAS8-AS1, PTCSC3, HRAS, MIR485, EIF1AX, SNAI1, ERC1, TPR, TFG, DIO3, MIR431, MIR381, MIR409, MIR369, MIR376C, MIR758, PCM1, TRIM27, MIR299, MIR539, MIR136, TRIM33, LPAR4, MIR654, TRIM24, MIR379, MIR382, WARS1, WDR20, MIR380, BEGAIN, NDUFA13, MIR377, MIR376A1, MIR127, MIR370, MIR134, MIR337, MIR323A, MIR433, MIR154, DIO3OS, MIR329-1, MIR496, MIR323B, MIR376A2, MIR487B, MIR411, MIR655, MIR656, MIR770, MIR300, MIR543, DYNC1H1, MIR889, MIR1247, MIR1197, MIR1193, ZEB1, GOLGA5, MIR487A, MIR493, MIR410, PPP2R5C, MIR412, MIR432, MIR494, SNAI2, MIR376B, ZEB2, MIR495, APC, HABP2, PTEN, NRG1, DICER1, TAS2R38, PTCH1, MINPP1, MAPK1, PIK3CG, TPCN1, PIK3CD, PIK3CB, CTNNB1, PIK3CA, PCNX2, ESR1, EGFR, F9, VAV3, TP53, BRCA2, MIR146B, BCL2, CCND1, TGFB1, HT, AKT1, JAG1, TG, LINC02454, TERT, LOC110806263, LGALS3, MIR222, SEC23B, MMP9, CXCR4, LIG4, TPM3, TPO, TSHR, SLC5A5, MIR221, VEGFA, EPHB2, MIR146A, COX2, FN1, CD274, MET, KRT19, MIR21, PTGS2, TIMP1, GABPA, SPP1, NCAM1, MTCO2P12, ATM, MUC1, MAP2K7, IGF1, KIT, TNF, ESR2, CD44, HIF1A, RASSF1, SLC2A1, CXCL12, HGF, VEGFC, NFE2L2, MAPK3, TTF1, MIR204, PRPF31, VDR, DUSP6, CDKN1B, MIR451A, XIAP, TFF3, PDGFRA, CYP24A1, THBS1, KDR, RUNX2, PTH, LEP, CHEK2, STAT3, ERBB2, MMP2, MIR144, PCNA, RAF1, VIM, CDKN2A, PTCH2, MDK, IRAK1, MTOR, MT1G, ROCK1, SOX2, IGF1R, CITED1, S100A4, GDF1, MYC, NOTCH1, LEPR, MDM2, TACSTD2, H3P10, ICAM1, FOXP3, MIR30A, CRK, ACKR3, TGFA, NOB1, NEAT1, MIR141, SMUG1, MIR155, MIR15A, HTC2, AKT3, DPP4, SPHK1, CENPJ, UCA1, HMGA2, TIMP3, EDN1, MIR486-1, XRCC1, AR, SNHG12, MIR613, IL6, SLC5A8, PTCSC2, MT1A, MMP11, WNK1, ORI6, SPHK2, MALAT1, MIR34B, IL10, MIR150, MIR96, MLH1, MIR199A1, MIR199A2, MCL1, MIR200A, SYTL2, MIR497, MIR29A, MIR206, SP1, KRT20, AIMP2, AHSA1, GRAP2, RAP1A, TP63, TTF2, RNH1, RPE65, KLK7, S100A11, WNT5A, VHL, UVRAG, SLC2A3, TWIST1, PPP1R13L, PROX1, TERF2IP, SGSM3, SHC3, GDE1, SIRT6, IL22, STOML2, PDGFRB, RABGEF1, CKAP4, PDCD4, POLDIP2, RNF19A, DKK1, ZHX2, MAP2K1, YAP1, ABL1, MS4A1, COL1A1, VEGFD, CCR7, HLA-G, MAPK14, DIO2, CDH1, HLA-DRB1, DIO1, EZH2, HOXD13, EDNRA, FOXO1, FAS, EGF, HMGB1, GSTM1, GPI, HSP90AA1, MIR122, MIR139, DCTN6, EBP, SOX11, GLI1, NNMT, TNFSF10, MIR202, MIR137, MIRLET7E, CDKN1A, NRP1, HOPX, TENM1, ITCH, PLAU, AKAP9, PLG, EIF4E, SLPI, DNMT1, SERPINA1, PGR, DDR2, NRCAM, P2RX7, MIR126, PAK1, ZNRD2, FGF2, PDPN, NT5E, CIB1, PCBP4, POSTN, FGFR1, CRNDE, FASLG, POLR2E, ZNRF3, KIDINS220, NOTCH3, MIR10A, PDPK1, ARNTL, MIR509-1, MIR149, MIR145, DUSP5, RAC1, CAV1, MIR7-2, RARA, MIR34A, RARG, NAPSA, MIR195, OPN1LW, RELA, CCK, ABCG2, SLIT2, MIR363, FOS, FLT3, CCL21, FLT1, RPL36A, CLDN10, MIR199B, CLDN1, S100A6, FOXO3, TMSB10, LPAR2, MIAT, MIR183, CXCL14, PTN, CDK4, PAG1, PRKAA1, PRKAA2, PRKAB1, DNMT3A, CA12, GAS5, FOXM1, MIR375, GAS1, CDH6, KEAP1, CASP3, EIF4A3, RAPGEF5, GORASP1, MIR335, PSMD9, E2F1, SFTPB, GABRB2, NECTIN4, SELL, FRTS1, NCL, C3, SYT1, TOP2A, TRAF6, JAK1, JUN, CXXC5, IL27, CASC2, HOXA@, LAMB3, LAMC2, IL17D, CREBBP, ITGA3, LINC00313, HAGLR, LGALS1, CPSF2, LMNA, MIR2861, TLR4, ERRFI1, LRP4, CRABP1, ITGA5, ITGA2, SIRT1, IL1B, H3P23, YY1, CLIP2, KLB, IFI27, DEUP1, IGFBP5, CTSC, IHH, IL1A, ZCCHC12, FALEC, HSPA5, CXCL8, CXCR2, ABHD11-AS1, LIPH, IL13RA2, IL17A, TMED7, CXCL10, INSR, EPCAM, LPAR3, ANGPT1, MTDH, PTK2B, TMED10, MT1X, MIR933, AHR, AKT2, CISH, TMED7-TICAM2, TMED10P1, GSTT1, TICAM2, TEK, ALDH1A1, MST1, DCN, MSH2, FOXD2-AS1, UNC5B-AS1, HOTAIR, HLA-C, HOXA-AS2, MCM5, CYP27B1, ETV5, MDM4, HLA-DQB1, CYTOR, THRB, RASAL1, KDM1A, KLLN, PDCD1LG2, NT5C1A, STON2, DCSTAMP, SLCO6A1, PROK1, GPR151, ADAT2, E2F7, PROSER3, CLPTM1L, AFAP1L2, LIMD2, SPZ1, RTN4IP1, LMLN, CHEK1, TMEM139, FSD1L, ECRG4, XKR4, AHNAK2, FOXQ1, FAM83F, HTRA3, ABHD11, TMPRSS13, PKHD1L1, MCM3AP-AS1, SH3BGRL3, HSDL2, MAL2, ARL11, RBM45, MRGPRX3, TLR10, MRGPRX4, PRAP1, LINC01278, CYP2R1, ACBD5, CPT1C, TRIM8, HOOK3, KLF17, CHI3L1, HSPD1, WNT10A, IL17RB, LARP7, CRKL, RAB23, CREM, FXYD5, DUOX1, TLR9, CREB1, DLL4, CROT, SLC35F2, XAF1, TRIM44, GATAD2A, CPOX, PGPEP1, ELOVL2, PINX1, TUG1, PIWIL2, THAP1, RMDN3, ZNF654, LAPTM4B, IMPACT, CRY2, MBIP, IL23A, DUOX2, SETD2, DROSHA, PYCARD, CTLA4, UHRF1, TFCP2L1, CERS2, PSAT1, EHD2, CSNK1G2, CD207, NOX4, SIRT7, CSF2, TAS2R3, F11R, CSF1R, CSF1, RMDN1, HSPA14, TCEAL9, MZB1, TNFRSF12A, REV1, LGR4, SYBU, NAA15, IWS1, CXCL16, IL22RA1, ACE2, LGR6, SCOC, PROK2, MYO1G, ERAP2, SOX17, HHIP, MRPL41, CDK15, MRPL44, CCR3, TRAK2, OTUB2, MAPKAP1, FSD1, MUL1, TNFAIP8L2, LIN28A, E2F8, CKS2, TRPM3, ZNF703, C6orf47, ANKRD36B, NCOA5, TCIM, RUFY2, WDR11, ATF7IP, CHFR, AGK, COX8A, PBK, MYDGF, PDGFC, TMPRSS4, KLF6, EMSY, TNRC6C, SMYD2, CTNNBIP1, TWSG1, CEMIP, DANCR, SRGAP1, MIB1, SEMA6A, MRTFA, CNGB1, RELCH, TEKT4, MIR130A, RMDN2, GGTLC4P, MIR622, MIR625, MIR630, AMPD1, AMFR, MIR663A, LINC00460, GGTLC3, GGT2, CCR2, ALOX5, ALDH1A3, MIR608, MIR766, MIR675, ALCAM, VTRNA2-1, MIR744, MIR922, MIR940, MIR885, TNRC6C-AS1, LINC00271, CD24, ANGPT2, MIR599, MIR1915, ARAF, BMI1, BGN, BGLAP, BAX, B2M, ATP5F1E, ATF1, ARR3, MIR520A, MIR524, MIR506, RASSF10, MIR584, NORAD, CXADRP1, GGTLC5P, PAX8-AS1, APRT, APOA4, ANXA5, ANXA1, MIR564, MIR574, MIR577, MIR1183, NR0B1, CCDC80, LOC102723407, MIR4516, MIR4429, MIR5189, BANCR, ADRA2B, COMETT, NAMA, BLACAT1, SAMMSON, LINC01186, ADRA1A, LOC102724971, MIR4728, CCND2-AS1, BISPR, PARP1, CERNA3, LOC105379528, RNU1-55P, ADCYAP1R1, ADCYAP1, ADCY1, LNCRNA-ATB, H3P17, MIR4500, COMMD3-BMI1, MIR1270, MIR320E, MIR1266, MIR1271, MIR1261, MIR1179, MIR1304, AFM, MIR718, MIR761, HOTTIP, AP2A1, MIR4316, MIR3144, SNHG16, MIR3151, LINC00673, MIR3619, MIR3663, PROX1-AS1, APTR, LINC01672, LUCAT1, HOTAIRM1, TTN-AS1, DLG1-AS1, BMP4, BMPR1A, BRCA1, LINC01061, SCAI, UBAC2, RSPO2, ZNF677, GSTK1, AGRN, CDX2, KMT5A, CCL4L1, IYD, LOC390714, MIRLET7B, SNHG15, MIR106A, MIR106B, MIR125A, CDKN3, HIPK2, MIR130B, CDKN1C, CDK8, MIR143, CDK7, MIR148A, SLC26A4-AS1, RPL34-AS1, BRS3, USF3, PAQR3, C8orf37, CBLL2, OXER1, DACT2, GLIS3, NLRP6, EMX2OS, TIGIT, PRSS55, ANO5, SKA1, RSPO1, HOXA11-AS, JAZF1, GPRC6A, ZNRF2, TTTY10, FNDC5, MRGPRX1, MAGEA2B, CEBPB, B4GALNT3, LINC00514, CDK2, CDH2, MIR18A, MIR361, ZFAS1, GPR166P, MIR148B, CASR, MIR324, CASP9, MIR339, MIR346, CASP8, CASP6, MIR196B, CASP2, MIR181A2, CAMP, CALCA, CAD, CA9, MIR384, MIR422A, RGMB-AS1, MIR20B, TMEM50B, MPPED2, BUB1B, VN1R17P, NRARP, NR2F1-AS1, PRDM16-DT, MIR182, MIR190A, CD74, CD68, MIR20A, CD63, MIR203A, CD38, CD34, MIR211, MIR212, MIR214, MIR215, MIR219A1, MIR22, CD247, CD1A, MIR23A, CCNG1, MIR296, CBL, MIR31, RUNX3, ATAD2, AKAP13, CTNNA1, PTGDS, MAPK8, LRRC32, PRL, PRLR, GAPDH, GAP43, HTRA1, KLK10, PSG1, PSMD8, GAGE5, GAGE4, PTGIS, FLVCR1, GAGE1, G6PD, PTPRJ, NECTIN1, PVT1, RAD52, FUT4, FUCA1, RAP1GAP, RARB, RARRES2, RBP2, GCGR, GGT1, PRKCE, PRKAR1A, SLC26A4, PECAM1, PGM1, PHB, SERPINB5, SERPINE2, GCLC, GPC3, GLA, PIN1, PITX2, PKM, PLA2G1B, PLA2G2A, PLD2, PLK1, PMP22, PMS2, POMC, POU5F1B, PPARA, GJB2, GH1, PRKACA, PRKACG, FPR2, FOSB, RGS4, FKBP5, SLC6A9, SLC16A2, FKBP4, SOD2, SOD3, FGFR4, SOX9, SOX12, SPARC, SPG7, SPINT1, SRC, SRF, SRY, SST, SSTR4, STAT1, FGF1, STK11, STRN, SYPL1, MAP3K7, TBX1, TCF4, TBX3, SLC6A2, FOXF1, RNASE2, SLC1A5, BRD2, ROS1, RRAS, RXRG, S100A1, FLI1, S100A13, S100B, SERPINB3, SCD, SCN4B, CCL2, CCL3, CCL4, CCL5, CCL20, CXCL11, CXCL5, SDC4, SDHB, SELE, SFRP1, SHH, SHMT1, SKP2, ENPP2, GLI2, GLP1R, JUNB, CD82, KCNJ2, HOXD10, KIF5B, HOXA9, HOXA3, LAIR1, LASP1, LBR, LCN2, LDHA, HNF4A, FOXA2, HMGB2, LMO7, LOX, LOXL1, BCAM, HMBS, SMAD3, SMAD4, MAGEA2, MARK1, MC1R, MCM3, JUND, ITGB4, MAP3K5, ITGB2, TNC, HSP90AB1, ID1, ID3, IDH1, IFNG, HSPA9, IGFBP1, IGFBP7, IL1R1, IL2, IL2RA, IL4, HPRT1, IL11, IL11RA, IL13, IL18, IDO1, INS, INPPL1, IRS1, ISG20, ITGAV, ITGB1, MCM7, MEN1, PDCD1, GSN, GPX3, GRK6, NFKB1, NGF, NGFR, NNAT, NME1, NOS2, NOS3, GPR42, UTS2R, CXCR3, ROR2, NUCB2, PEBP1, PRDX1, SERPINE1, PRKN, PAX6, PC, SERPINA5, GNAS, GLS, CDK16, PCYT1A, MYH9, MMUT, MFAP1, MUC4, MGMT, CXCL9, MKI67, HLA-B, MME, MMP1, HLA-A, HK2, HIC1, MMP13, MOG, MPZ, MRC1, ABCC1, HBB, MSH3, MSMB, GUSB, MT1E, MT1F, MT1M, MT2A, MTF1, MTHFR, GSR, TCF7L2, FCGR3B, TERC, TAB1, CFD, ATG7, ARFGEF1, NPC2, TXNRD2, DECR1, PDLIM5, CXCR6, CLDN16, CERS1, POLQ, PTGES3, CHL1, FRS2, AKR1C2, HPSE, HCP5, EHD1, RAB40B, DCT, COPS6, OGFR, WDR5, ACE, HUS1, GPNMB, NQO1, ANKRD26, RAPGEF3, WSCD2, NUP93, RAB11FIP3, SART3, HDAC9, HDAC4, TRIM14, DPT, PJA2, TLK1, WDR1, FGF19, NR1I3, RBX1, SCO2, NAALADL1, PLXNC1, PSME3, TRIM13, SPRY2, STUB1, PAK4, TLR6, NDRG1, RACK1, TUSC2, CILK1, DUSP2, CYP1A1, LRIG1, DNM3, CYLD, CXADR, DGCR5, PHGDH, FGF21, EHF, BEX3, LAT, TSPAN13, DKK3, SNX5, SERP1, CUX1, HPGDS, RBMX, CTSL, CTSB, EML4, IGHV3OR16-7, IGHV3-69-1, TRBV2, TRBJ1-2, TRBJ1-1, WWTR1, BRMS1, DCK, QPCT, MMRN1, ATF6, RPIA, DAPK1, USP33, SMG1, RRS1, KAZN, CUX2, USP22, CYP19A1, ANGPTL2, HEY1, BRD4, PES1, SRRM2, PSD4, CYP2D6, AMACR, LDOC1, SNHG1, TRIM29, SLC7A11, IL17RA, RASGRP3, PRDX6, CCL4L2, FCGR3A, EPHB4, SUMO1, UGCG, USF1, EPHB1, VAV2, EPAS1, ENG, EMX2, ELK3, ELF3, TRPV1, ELAVL2, WIPF1, WNT1, EIF4EBP1, WNT7A, XRCC3, ZIC1, CNBP, TRIM26, EPHA2, EGR2, NTT, EDNRB, LPAR1, EPHB3, EPS15, ACP3, TSG101, TFAP2A, TFE3, FCER2, FBN1, FASN, TGFBR1, TGFBR2, EZH1, EWSR1, TK1, TLR1, TLR2, TLR3, TM7SF2, ETV4, ETS1, TP53BP1, TPI1, ERCC5, ERBB4, ERBB3, TPT1, CRISP2, HSP90B1, CCT3, SLC7A5, CND, TP53I3, TNFRSF10B, TNFRSF10A, E2F4, IQGAP1, SOCS2, PROM1, KSR1, CDK5R1, PER2, CCNA1, BTRC, MAP3K14, SOCS3, USP6, OSMR, BUB3, AURKB, PTTG1, CRLF1, DHRS3, STK17B, KLF4, COX5A, ATG5, ADAMTS1, PTGES, SCEL, CDC23, NAA10, BECN1, TKTL1, BAP1, CDC45, FZD1, FZD4, PLA2G6, TAGLN2, RECK, CAVIN2, CUL3, TYMP, MAP4K3, PARG, APOL1, LMO4, LGR5, CDC14B, KHSRP, PSMG1, ECE1, EIF4EBP3, E2F6, SOCS1, PDE5A, IRS2, CDR3
    • Thyroid Carcinoma, Hurthle Cell Omim
      A number sign (#) is used with this entry because Hurthle cell tumors are associated with chromosomal abnormalities or mutations in the RAS gene (190020), the PAX8/PPARG fusion gene (see 167415), or the NDUFA13 gene (609435). Description Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998). Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005). Cytogenetics Chromosomal aberrations by comparative genomic hybridization (CGH) are common in Hurthle cell neoplasms.
    • Differentiated Thyroid Carcinoma Orphanet
      A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC). Epidemiology The annual incidence of differentiated thyroid cancer (DTC) is about 1/10,000, and the incidence appears to be increasing. The female to male ratio is about 3:1. Clinical description PTC, FTC, and HCTC have similar presentations, and constitute about 75, 20, and 5 percent of cases, respectively. About 10 percent of PTC are classified as tall cell variant, the most aggressive from of PTC. HCTC is generally considered slightly more aggressive than PTC and FTC.
    • Thyroid Cancer, Nonmedullary, 1 Omim
      Thyroid follicular cells were laser capture microdissected from sections of 28 archival PTCs. Total RNA was extracted and analyzed for expression of glyceraldehyde 3-phosphate dehydrogenase (138400), RET/PTC1, and RET/PTC3 using TaqMan PCR. ... Thomas et al. (1999) analyzed 67 post-Chernobyl pediatric PTCs arising in 1995 to 1997 for RET/PTC activation; 28 were from Ukraine and 39 were from Belarus. ... Somatic Mutation in BRAF Kimura et al. (2003) identified a val600-to-glu (V600E; 164757.0001) mutation in the BRAF gene in 28 (35.8%) of 78 cases of PTC; it was not found in any of the other types of differentiated follicular neoplasms arising from the same cell type (0 of 46). ... The most frequent allelic losses were detected in 7q (28%), 11p (28%), and 22q (41%). Frequent allelic losses of markers on chromosome 7q, 11p, and 22q suggested locations to examine for the presence of suppressor genes associated with the development of follicular thyroid carcinoma.
  • Atrial Septal Defect Wikipedia
    In a large randomized controlled trial , the higher prevalence of PFO in migraine patients was confirmed, but migraine headache cessation was not more prevalent in the group of migraine patients who underwent closure of their PFOs. [27] Causes [ edit ] Down syndrome – patients with Down syndrome have higher rates of ASDs, especially a particular type that involves the ventricular wall . [28] As many as one half of Down syndrome patients have some type of septal defect. [28] Ebstein's anomaly [29] – about 50% of individuals with Ebstein anomaly have an associated shunt between the right and left atria, either an atrial septal defect or a patent foramen ovale . [30] Fetal alcohol syndrome – about one in four patients with fetal alcohol syndrome has either an ASD or a ventricular septal defect . [31] Holt–Oram syndrome – both the osteium secundum and osteum primum types of ASD are associated with Holt–Oram syndrome [32] Lutembacher's syndrome – the presence of a congenital ASD along with acquired mitral stenosis [6] Mechanisms [ edit ] In unaffected individuals, the chambers of the left side of the heart are under higher pressure than the chambers of the right side because the left ventricle has to produce enough pressure to pump blood throughout the entire body, while the right ventricle needs only to produce enough pressure to pump blood to the lungs . ... PMID 31547797 . ^ "Atrial Septal Defect Types – Mayo Clinic" . Archived from the original on 28 September 2007 . Retrieved 2007-10-14 . ^ Fix, James D.; Dudek, Ronald W. (1998).
    NKX2-5, PQBP1, GATA4, MYH6, GABRQ, MYT1L, TRIP12, CCN1, NTF3, ACTC1, FOXC1, TBX5, TLL1, PTPN11, PTEN, BMPR1A, SALL4, COMT, NODAL, EVC, B3GLCT, MAP2K1, GATA6, TTN, SHANK3, TRIP13, ABL1, BUB3, SMC3, BAZ1B, CDC45, ARID1A, NAA10, SMC1A, CDK13, SEC24C, EFTUD2, LONP1, ZMPSTE24, GPC6, MED12, RBM8A, WASHC5, FIG4, ZEB2, KIAA0586, TMEM94, SEMA3E, CEP57, TTC37, USP9X, GTF2IRD1, TBX4, RBM10, WT1, MKKS, KMT2D, SOS1, SON, SNRPB, SMN1, SMARCE1, SKIV2L, SCN4A, SALL1, RREB1, RPS17, RPL27, RPL5, RIT1, RFC2, RAF1, STK4, ABCC8, TALDO1, NELFA, SHOC2, KAT6A, PCGF2, ZIC3, XRCC2, CITED2, NSD2, TBX1, CLIP2, KDM6A, UFD1, HIRA, NKX2-1, TBX2, TRAIP, MRAS, MAD2L2, UPF3B, UBE3B, TMEM87B, SLX4, PHF6, BRIP1, CEP290, PALB2, NXN, VAC14, NSD1, STRA6, XYLT2, FANCM, ARHGAP31, ARID1B, KIF15, NEK9, G6PC3, CHST14, MMP21, TTN-AS1, RNU4ATAC, DIPK1A, CTU2, KANSL1, JMJD1C, UBR1, ASXL1, ESCO2, CEP120, CCBE1, GATA5, AMER1, EVC2, B3GALT6, HDAC8, CHD7, SLC19A2, PIGN, TBL2, VPS33B, AUTS2, SETBP1, C2CD3, SH2B1, NIPBL, KAT6B, ASXL2, HAAO, TGDS, SIK3, SPECC1L, RAD51, TXNL4A, KDM5B, NPHP3, CCDC22, UBE2T, SLC25A24, FANCI, SETD5, RFWD3, FANCL, AGGF1, BCOR, NDUFB11, TMCO1, RAB23, OTUD6B, DYNC2LI1, LARP7, DACT1, ZDHHC9, TBX22, RAD51C, STIM1, RAD21, FOXF1, ERCC4, FANCA, FANCC, FANCD2, FANCE, FANCB, FANCF, FANCG, FBN2, FKTN, GPC4, FGFR1, PEX19, FGFR2, FLNB, LETM1, GDF1, GJA1, GPC3, GLI1, GLI3, GP1BB, GPX4, GTF2I, HCCS, HNRNPK, HRAS, HSPA9, HSPG2, KIF11, EP300, ELN, ECE1, DNMT3A, ACTL6A, JAG1, ANK1, ARSD, ARVCF, ATIC, RERE, ATP6V1A, ATP6V1E1, BCR, BMP2, BRCA1, BRAF, BRCA2, BUB1, BUB1B, MYRF, TMEM258, LYST, CHRM3, COL1A1, COL5A1, COL5A2, COX7B, CREBBP, CRKL, CYP11A1, DHCR7, DMD, KRAS, FGFR3, MYH7, MASP1, KMT2A, MMP2, MAP2K2, MMP14, MAPK1, MMUT, NFIX, NOTCH2, LMNA, POR, ROR2, POLA1, PAX3, PCNT, PIGA, PIK3R2, LIMK1, MEIS2, PITX2, SMS, RSS, TBX20, CYP11B2, ACTA2, IL1B, IL18, CRP, WNT1, CNTNAP2, BMP4, CYP1B1, MTHFR, STX18, BDNF, MSX1, SHANK2, ASNS, ACTB, CNTNAP3, MIR499A, ELMOD3, PITX3, SOD1, SIL1, SNAP25, ARSA, MIR486-1, CACNA1C, CAPG, EBPL, LGALS7B, CAT, CCNA2, CDH11, SHROOM3, NUFIP2, POMC, FOXL2, ADO, TARP, ANGPT2, PSD, SLFN14, MAPK3, PTH, SAA1, SAA2, ACTN4, OSR1, RBM45, MIRLET7B, OPN1SW, ACTA1, MIR139, SCN2A, MIR27A, SYTL4, PPP3CA, NEXN, BMPR2, LBX2, RELN, MDD1, LGALS7, CYP2E1, RTN4, COL4A1, HEY2, ZFPM2, MSX2, FOXE3, KDM4C, FMR1, PHB2, WDHD1, MMP3, DGCR6, LZTR1, TSHZ1, GRM5, GRM7, MEFV, MECP2, HLA-DRB1, SMAD4, LRPAP1, AXIN1, HTC2, IL1A, IL4, IL6, CXCL8, ISL1, KLRC2, MYBPC3, VEGFA, NOS3, TGFB1, PCDHGA4, CFC1, CDKL5, PCYT1A, SYN2, CHDH, NRP1, PAX6, HYDIN, PCSK6, DMPK, ARID4B, DPYSL3, PHGDH, TGFBR2, EFNB1, ELK3, PLAC8, OPRD1, TNF, F2, TNFRSF1A, INTU, NPPA, NOTCH3, SUMO1, CERNA3
    • Atrial Septal Defect 6 Omim
      A number sign (#) is used with this entry because of evidence that atrial septal defect-6 (ASD6) is caused by heterozygous mutation in the TLL1 gene (606742) on chromosome 4q32. For a general phenotypic description and discussion of genetic heterogeneity in atrial septal defect, see ASD1 (108800). Molecular Genetics Based on data from mouse models of incomplete heart septation associated with inactivation of mouse Tll1, Stanczak et al. (2009) analyzed the candidate gene TLL1 in 19 unrelated patients with atrial septal defect and identified heterozygosity for 3 missense mutations in 3 patients (606742.0001-606742.0003, respectively). One of the patients had an isolated ostium primum defect; the other 2 patients, who had ostium secundum defects, displayed additional features including interatrial aneurysm and cardiac arrhythmias. INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Atrial septal defect, type I or II - Aneurysm of interatrial septum (in some patients) - Atrial fibrillation (in some patients) - Bradycardia (in some patients) MOLECULAR BASIS - Caused by mutation in the tolloid-like 1 gene (TLL1, 606742.0001 ) ▲ Close
    • Atrial Septal Defect 5 Omim
      A number sign (#) is used with this entry because of evidence that atrial septal defect-5 (ASD5) is caused by heterozygous mutation in the ACTC1 gene (102540) on chromosome 15q14. For a phenotypic description and discussion of genetic heterogeneity in atrial septal defect, see ASD1 (108800). Mapping Matsson et al. (2008) studied 2 large Swedish families segregating autosomal dominant isolated secundum atrial septal defect (ASD) with variable clinical expression. Genotyping with microsatellite markers in 'family 1' revealed a specific haplotype in all affected individuals spanning a 15.1-cM region of chromosome 15q13-q21; analysis of 'family 2' identified a minimal haplotype with significant linkage to ASD consisting of markers GT44248, GATA12322, and ACTC. All affected individuals genotyped had identical allele sizes for the marker haplotype, suggesting a shared ancestral mutation for the 2 families.
    • Atrial Septal Defect 2 Omim
      A number sign (#) is used with this entry because atrial septal defect-2 (ASD2) is caused by heterozygous mutation in the GATA4 gene (600576) on chromosome 8p23. For discussion of genetic heterogeneity in atrial septal defect, see ASD1 (108800). Clinical Features Garg et al. (2003) identified a large kindred spanning 5 generations in which 16 individuals had congenital heart defects. Detailed clinical evaluations reviewed for all available family members demonstrated an autosomal dominant pattern of inheritance. All affected family members had atrial septal defects. Eight individuals had additional congenital heart defects, including ventricular septal defects (VSD), atrioventricular septal defects (AVSD), pulmonary valve thickening, or insufficiency of the cardiac valves.
    • Atrial Septal Defect 1 Omim
      Description Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death (summary by Benson et al., 1998). Genetic Heterogeneity of Atrial Septal Defect The ASD1 locus has been mapped to chromosome 5p. Other forms of atrial septal defect that are associated with other congenital heart disease but no conduction defects or noncardiac abnormalities include ASD2 (607941), caused by mutation in the GATA4 gene (600576), and ASD4 (611363), caused by mutation in the TBX20 gene (606061). ASD3 (614089) and ASD5 (612794), in which atrial septal defect is not associated with other cardiac abnormalities, are caused by mutation in the MYH6 (160710) and ACTC1 (102540) genes, respectively.
    • Interatrial Communication Orphanet
      A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart. Epidemiology Overall, openings between the atrial chambers account for about 6 to 8% of all congenitally malformed hearts. As a group, the prevalence at birth is between 6 to 9/10000; however, this is likely an underestimated due to the asymptomatic nature of the disease. The female-to-male ratio is 2-4:1. Clinical description There are four types of defects, named according to their position relative to the atrial septum. The ostium secundum defect is the most common type, accounting for three-quarters of all cases, located to the region of the oval fossa, most commonly due to a deficiency of the primary atrial septum (septum primum) but deficiency of the septum secundum (superior interatrial fold) may also contribute.
    • Atrial Septal Defect 8 Omim
      A number sign (#) is used with this entry because of evidence that atrial septal defect-8 (ASD8) can be caused by heterozygous mutation in the CITED2 gene (602937) on chromosome 6q23.3. For discussion of genetic heterogeneity of atrial septal defect, see ASD1 (108800). Molecular Genetics Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects and 192 controls for mutations in the CITED2 gene and identified a 27-bp insertion (602937.0002) in a patient with a secundum atrial septal defect, and a 6-bp deletion (602937.0003) in a patient with a sinus venosus atrial septal defect and abnormal pulmonary venous return to the right atria. Functional analysis of the mutations, which were not found in controls, revealed that both significantly reduced the capacity of CITED2 to transrepress HIF1A (603348). INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Atrial septal defect, secundum type (in some patients) - Atrial septal defect, sinus venosus type (in some patients) Vascular - Abnormal pulmonary venous return to right atria (in some patients) MOLECULAR BASIS - Caused by mutation in the CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 gene (CITED2, 602937.0001 ) ▲ Close
    • Atrial Septal Defect (Asd) Mayo_clinic
      Overview An atrial septal defect (ASD) is a hole in the heart between the upper chambers (atria). The hole increases the amount of blood that flows through the lungs. The condition is present at birth (congenital heart defect). Small atrial septal defects might be found by chance and never cause a concern. Others close during infancy or early childhood. A large, long-term atrial septal defect can damage the heart and lungs. Surgery may be needed to repair an atrial septal defect and to prevent complications.
    • Atrial Septal Defect 9 Omim
      A number sign (#) is used with this entry because of evidence that atrial septal defect-9 (ASD9) is caused by heterozygous mutation in the GATA6 gene (601656) on chromosome 18q11. For discussion of genetic heterogeneity of atrial septal defect (ASD), see ASD1 (108800). Molecular Genetics Lin et al. (2010) analyzed the GATA6 gene in 270 unrelated Chinese patients with congenital heart defects and identified heterozygosity for a missense mutation in the GATA6 gene (S184N; 601656.0005) in 2 Chinese children with atrial septal defect. One of the ASD patients was a 3-year-old girl with an ostium secundum ASD and mild pulmonary arterial hypertension, whereas the other was a 4-year-old boy with an ostium secundum ASD and mild tricuspid valve disease and pulmonary valve replacement. The S184N mutation was detected in the unaffected father of the girl as well as in the clinically unaffected mother of the boy; the latter parent was found to have bicuspid aortic valve on echocardiography.
  • Hepatorenal Syndrome Wikipedia
    These include the use of intravenous albumin infusion, medications (for which the best evidence is for analogues of vasopressin , which causes splanchnic vasoconstriction), radiological shunts to decrease pressure in the portal vein , dialysis , and a specialized albumin-bound membrane dialysis system termed molecular adsorbents recirculation system (MARS) or liver dialysis . [2] Medical therapy [ edit ] Many major studies showing improvement in kidney function in patients with hepatorenal syndrome have involved expansion of the volume of the plasma with albumin given intravenously. [2] [25] [26] The quantity of albumin administered intravenously varies: one cited regimen is 1 gram of albumin per kilogram of body weight intravenously on the first day, followed by 20 to 40 grams daily. [27] Notably, studies have shown that treatment with albumin alone is inferior to treatment with other medications in conjunction with albumin; most studies evaluating pre-transplant therapies for HRS involve the use of albumin in conjunction with other medical or procedural treatment. [2] [28] Midodrine is an alpha-agonist and octreotide is an analogue of somatostatin , a hormone involved in regulation of blood vessel tone in the gastrointestinal tract . ... "Hepatorenal syndrome" . Clin Biochem Rev . 28 (1): 11–7. PMC 1904420 . PMID 17603637 . ^ a b c d e f g h i j k l m n o Ginès P, Arroyo V (1999). ... Aliment. Pharmacol. Ther . 25 (9): 1017–28. doi : 10.1111/j.1365-2036.2007.03303.x . ... "Prostaglandins for the treatment of hepatorenal syndrome". Ann Pharmacother . 28 (1): 54–5. doi : 10.1177/106002809402800112 .
    HMOX1, EDN1, TNF, TLR4, ALB, RSC1A1, HARS1, ATN1, HGS, SRSF5, LCN2, CST3, VCAM1, RAPGEF5, NR1I2, MIR21, MIR146A, ADM, TYR, TIMP2, ITPR1, CXCL10, IGFBP7, CSF3, MIR210
    • Hepatorenal Syndrome Gard
      Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health ( malaise ). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure . Individuals with type I typically have dramatically reduced urine output, edema , and jaundice, and often suffer from hepatic encephalopathy .
  • Frontal Lobe Epilepsy Wikipedia
    Laws restricting driving privileges vary greatly in the United States as well as across the world. In the United States, 28 states require a patient to be seizure free for fixed periods of time ranging from 3–12 months. [15] However, research done by Johns Hopkins University showed that there was no difference in seizure-related fatal crash rates in states with 3-month restrictions versus states with 6-12 month seizure-free restrictions. ... People with frontal lobe epilepsy show decreased cognitive capabilities in the following areas: humor appreciation, recognition of emotional expressions, response selection/initiation and inhibition, hyperactivity, conscientiousness, obsession, addictive behavior , motor coordination and planning, attention span, performance speed, continuous performance without intrusion and interference errors, copying and recall, concept formation, anticipatory behavior, memory span , working memory , executive planning, visuo-spatial organization, mental flexibility, conceptual shift, problem solving, programming of complex motor sequences, impulse control , judgment and forecasting of consequences. [9] [23] [24] [25] Physical health and risk of other conditions Patients with epilepsy face a greater risk of accidents, injury and other medical conditions than the general population. [22] A European study showed that people with epilepsy were at greater risk for accidental injuries related to seizures such as concussions, abrasions and wounds and reported more hospitalizations and medical action than the general population. [26] Other studies have shown that people with epilepsy are at a greater risk of seizure related drowning, suffocation, broken bones and burns and more likely to die in a fatal automobile crash. [27] Epilepsy Ontario reports that people with epilepsy are also more likely to have other conditions than the general population such as: 30% of autistic children have epilepsy, 33% of cerebral palsy patients have epilepsy, 15-20% of fragile X syndrome patients have epilepsy, 50% of children with learning disabilities will have some form of epilepsy, 3-10% of patients with Lennox-Gastaut syndrome will have epilepsy, 80% of children with Rett syndrome will have epilepsy and 80% of patients with Tuberous Sclerosis will have epilepsy. [28] Mental and emotional health Epileptic patients are more prone to suffer psychological and social dysfunction than individuals that do not have epilepsy. ... Retrieved 2009-12-01 . [ dead link ] ^ Schachter SC, Shafer PO (2008-03-28). "Treatment" . epilepsy.com . Retrieved 2009-10-24 . ^ Weiner HL (2004-03-08).
    CHRNA4, CHRNB2, KCNT1, SLC4A10, CHRNA2, CRH, NOS1, NOS2, DEPDC5, TPSG1
  • Oral And Maxillofacial Pathology Wikipedia
    It is a science that investigates the causes, processes and effects of these diseases." [28] In some parts of the world, oral and maxillofacial pathologists take on responsibilities in forensic odontology . ... ISBN 978-0721690032 . ^ a b c d W., Odell, E. (2017-06-28). Cawson's essentials of oral pathology and oral medicine .
    BRCA1, S100A12, CYP26B1, DDIT4, HSPA14, CHAF1A, GDF15, CHAF1B, PTGS2, DNAJA1, GSS, FANCG, CRP, FGFR1, P2RX5, MEFV, P2RX5-TAX1BP3
  • Thrombophilia Due To Activated Protein C Resistance Omim
    The heterozygous mother developed a DVT of the left leg during her most recent pregnancy at the age of 37. Two daughters, aged 28 and 33 years, who were homozygous for the mutation, and the father, who was heterozygous, had not developed thrombosis. ... Kerlin et al. (2003) found that 4.1% of 65 patients with sepsis were heterozygous carriers of the factor V Leiden mutation. The 28-day mortality was lower in heterozygous carriers (13.9%) compared to those without the mutation (27.9%, p = 0.013).
    F5, PROC
    • Factor V Leiden Thrombophilia Medlineplus
      Factor V Leiden thrombophilia is an inherited disorder of blood clotting . Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream.
    • Factor V Leiden Thrombophilia Gene_reviews
      Summary Clinical characteristics. Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep vein thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common. Evidence suggests that heterozygosity for the Leiden variant has at most a modest effect on risk for recurrent thrombosis after initial treatment of a first VTE. It is unlikely that factor V Leiden thrombophilia (i.e., heterozygosity or homozygosity for the Leiden variant) is a major factor contributing to pregnancy loss and other adverse pregnancy outcomes (preeclampsia, fetal growth restriction, and placental abruption). The clinical expression of factor V Leiden thrombophilia is influenced by the following: The number of Leiden variants (heterozygotes have a slightly increased risk for venous thrombosis; homozygotes have a much greater thrombotic risk) Coexisting genetic thrombophilic disorders, which have a supra-additive effect on overall thrombotic risk Acquired thrombophilic disorders: antiphospholipid antibody (APLA) syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders, and increased levels of clotting factors Circumstantial risk factors including but not limited to pregnancy, central venous catheters, travel, combined oral contraceptive (COC) use and other combined contraceptives, oral hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), obesity, leg injury, and advancing age Diagnosis/testing.
    • Activated Protein C Resistance Wikipedia
      Activated protein C resistance (APCR) Protein C Anticoagulant Pathway : Thrombin escaping from a site of vascular injury binds to its receptor thrombomodulin (TM) on the intact cell surface. As a result, thrombin loses its procoagulant properties and instead becomes a potent activator of protein C. Activated protein C (APC) functions as a circulating anticoagulant, which specifically degrades and inactivates the phospholipid-bound factors Va and VIIIa. This effectively down-regulates the coagulation cascade and limits clot formation to sites of vascular injury. T = Thrombin, PC= Protein C, Activated Protein C= APC, PS= Protein S Specialty Hematology Activated protein C resistance (APCR) is a hypercoagulability (an increased tendency of the blood to clot) characterized by a lack of a response to activated protein C (APC), which normally helps prevent blood from clotting excessively.
  • Histiocytosis-Lymphadenopathy Plus Syndrome Omim
    Spiegel et al. (2010) reported an Israeli Moslem Arab family in which 2 sisters and their nephew were affected. The 28-year-old sister had clinical features consistent with classic PHID, consisting of insulin-dependent diabetes mellitus that developed at 12 years of age and the onset of hyperpigmented hypertrichotic sclerodermatous skin lesions at 14 years of age. ... In an Israeli Moslem Arab family in which a 28-year-old woman had PHID, her 5-year-old nephew had H syndrome, and her 23-year-old sister had a more severe phenotype combining features from both syndromes, as well as the additional features of severe seronegative polyarthritis and hypogonadotropic hypogonadism, Spiegel et al. (2010) identified mutations in the SLC29A3 gene: the sisters were compound heterozygous for the G427S and G437R mutations, whereas their nephew was homozygous for the G437R mutation.
    SLC29A3, S100A1, S100B, CD68, TNF, WT1
    • Histiocytosis-Lymphadenopathy Plus Syndrome Gard
      Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome , pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) , Faisalabad histiocytosis , and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family.
    • Histiocytosis-Lymphadenopathy Plus Syndrome Medlineplus
      Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of the conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary even within the same family.
    • H Syndrome Orphanet
      A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Epidemiology To date, around 130 patients have been described in the world literature. Clinical description H syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Cutaneous features are the most prevalent. Hyperpigmentation, associated with induration and hypertrichosis, usually appears initially on the medial thighs and shins, but may be more extensive.
    • H Syndrome Wikipedia
      This article relies too much on references to primary sources . Please improve this by adding secondary or tertiary sources . ( December 2018 ) ( Learn how and when to remove this template message ) H syndrome Other names Histiocytosis-lymphadenopathy plus syndrome This condition is inherited in an autosomal recessive manner H syndrome , also known as Histiocytosis-lymphadenopathy plus syndrome or PHID , [1] is a rare genetic condition caused by mutations in the SLC29A3 gene which encode the human equilibrative nucleoside transporter (hENT3) protein. [2] It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. Contents 1 Presentation 2 Genetics 3 Pathogenesis 4 Management 5 History 6 References 7 External links Presentation [ edit ] This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include Hyperpigmentation Hypertrichosis Hepatosplenomegaly Hearing loss Heart anomalies Hypogonadism Low height (short stature) Hyperglycemia / diabetes mellitus Hallux valgus /flexion contractures Exophthalmos , malabsorption and renal anomalies have also been reported. Genetics [ edit ] The SLC29A3 gene is located on the long arm of chromosome 10 (10q22). The causative gene was identified in 2010. [3] Pathogenesis [ edit ] This is not understood at present.
  • Osteochondritis Dissecans Wikipedia
    OCD in humans most commonly affects the knees, [8] ankles, and elbow but can affect any joint. [28] In skeletally immature individuals, the blood supply to the epiphyseal bone is good, supporting both osteogenesis and chondrogenesis . ... X-rays are usually taken three months after the start of non-operative therapy; if they reveal that the lesion has healed, a gradual return to activities is instituted. [48] [50] Those demonstrating healing by increased radiodensity in the subchondral region, or those whose lesions are unchanged, are candidates to repeat the above described three-month protocol until healing is noted. [28] Surgery [ edit ] Arthroscopic image of OATS surgery on the medial femoral condyle of the knee The choice of surgical versus non-surgical treatments for osteochondritis dissecans is controversial. [51] Consequently, the type and extent of surgery necessary varies based on patient age, severity of the lesion, and personal bias of the treating surgeon—entailing an exhaustive list of suggested treatments. ... Retrieved 17 September 2008 . ^ a b c "Osteochondritis dissecans of the knee" (PDF) . Orthogate. 28 July 2006 . Retrieved 16 November 2008 . ^ "Osteochondritis dissecans" (PDF) . ... PMID 8590122 . ^ Jacobs B, Ertl JP, Kovacs G, Jacobs JA (28 July 2006). "Knee Osteochondritis dissecans: treatment & medication" . eMedicine .
    • Osteochondritis Wikipedia
      Osteochondritis Specialty Orthopedics Osteochondritis is a painful type of osteochondrosis where the cartilage or bone in a joint is inflamed . [1] It often refers to osteochondritis dissecans (OCD). The term dissecans refers to the "creation of a flap of cartilage that further dissects away from its underlying subchondral attachments (dissecans)". [2] The other recognized types of osteochondritis are osteochondritis deformans juvenilis (osteochondritis of the capitular head of the epiphysis of the femur ) [1] and osteochondritis deformans juvenilis dorsi (osteochondrosis of the spinal vertebrae , also known as Scheuermann's disease ). [1] [3] Osteochondritis, and especially osteochondritis dissecans, can manifest in animals as a primary cause of elbow dysplasia , a chronic condition in some dog breeds. [4] References [ edit ] ^ a b c " Osteochondritis " at Dorland's Medical Dictionary ^ "CAL > Home" . cal.vet.upenn.edu . Archived from the original on September 13, 2007 . Retrieved August 20, 2015 . ^ Scheuermann's+disease at the US National Library of Medicine Medical Subject Headings (MeSH) ^ Quoted from: Matthew Pead and Sue Guthrie. "Elbow Dysplasia in dogs – a new scheme explained" (PDF) . British Veterinary Association (BVA). Archived from the original (PDF) on 2011-10-02 . Retrieved 2010-07-16 .
  • Minamata Disease Wikipedia
    The certification committee convened on 29 November 1962 and agreed that the two dead children and the sixteen children still alive should be certified as patients, and therefore liable for "sympathy" payments from Chisso, in line with the 1959 agreement. [28] Outbreak of Niigata Minamata disease [ edit ] Further information: Niigata Minamata disease Minamata disease broke out again in 1965, this time along the banks of the Agano River in Niigata Prefecture . ... One of the Chisso trade unions held an eight-hour strike in protest at the poor treatment of the arbitration group by their own company. [32] The litigation group, representing 41 certified patients (17 already deceased) in 28 families, submitted their suit against Chisso in the Kumamoto District Court on 14 June 1969.
    JUN, S100B
    • Fetal Methylmercury Syndrome Orphanet
      A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Epidemiology Accidents have led to the birth of about 800 affected children worldwide over the last 50 years. Clinical description In the late-1950s, methylmercury toxicity became highly publicised after an outbreak of cerebral palsy and microcephaly in newborns from the fishing village of Minimata Bay, Japan. These abnormalities were caused by methylmercury contamination of fish in the bay, and were termed Minimata Disease. Similar intoxications also occurred in Iraq after seeds contaminated with methylmercury were mistakenly used to make bread.
  • Variant Angina Wikipedia
    National Heart Lung and Blood Institute . Retrieved April 28, 2010 . ^ "Prinzmetal's Angina, Variant Angina and Angina Inversa" . ... PMID 8626956 . ^ Sun, Hongtao; Mohri, Masahiro; Shimokawa, Hiroaki; Usui, Makoto; Urakami, Lemmy; Takeshita, Akira (28 February 2002). "Coronary microvascular spasm causes myocardial ischemia in patients with vasospastic angina".
    NOS3, ACE, EDN1, ALDH2, SMUG1, AKR1A1, ABCC9, MED23, ADIPOQ, KL, LGI1, PON1, ABCB1, PCYT1A, KCNJ8, APOE, HTR2A, HTR1D, HTR1B, HSPA9, CSH2, CSH1, CLCN1, ERCC8, VPS51, CERNA3
  • Takotsubo Cardiomyopathy Wikipedia
    More specifically, adrenal stimulation by the sympathetic nervous system has been noted in cases ranging from physical events such as ischemic stroke, to emotional events such as depression or loss of a loved-one. [24] How these increased levels of catecholamines act in the body to produce the changes seen with TTS is not clearly understood. [5] [10] [11] [14] Research supports the widely-held understanding that microvascular dysfunction and coronary vasospasm caused by a rapid influx of catecholamines to cardiac myocytes results in apical stunning and transient cardiomyopathy. [5] [10] [11] Microvascular dysfunction/Transient vasospasm: Some of the original researchers of takotsubo suggested that multiple simultaneous spasms of coronary arteries could cause enough loss of blood flow to cause transient stunning of the myocardium. [25] Other researchers have shown that vasospasm is much less common than initially thought. [26] [27] [28] It has been noted that when there are vasospasms, even in multiple arteries, that they do not correlate with the areas of myocardium that are not contracting. [29] However, the idea of coronary artery vasospasm is still believed to contribute to the TTS disease process. ... Once a patient has recovered from the acute stage of the syndrome, they can expect a favorable outcome and the long-term prognosis is excellent for most. [1] [19] [35] Even when ventricular systolic function is heavily compromised at presentation, it typically improves within the first few days and normalises within the first few months. [1] [26] [27] [28] Although infrequent, recurrence of the syndrome has been reported and seems to be associated with the nature of the trigger. [1] [13] Stress cardiomyopathy is now a well-recognized cause of acute congestive heart failure , lethal abnormal heart rhythms , and rupture of the heart wall . [12] Epidemiology [ edit ] Takotsubo cardiomyopathy is rare, affecting between 1.2% and 2.2% of people in Japan and 2% to 3% in Western countries who suffer a myocardial infarction.
    PPARGC1A, GRK5, ADRB1, ESR1, IL6, BAG3, SMUG1, TNNI3, SDC1, SHBG, STXBP1, TLR2, FSD1, TLR4, PPP6R3, METAP2, VWF, SELENBP1, PLN, TLR6, CCHCR1, NOX4, PRD, NPPB, SERPINE1, ADRB2, GRK2, CD33, CTRL, ACE, EGF, ERBB2, ESR2, FLNA, FMR1, FSHMD1A, GLS, NR4A1, IL2, LPA, MMP8, MPST, NPY, FSD1L
    • Broken Heart Syndrome Mayo_clinic
      Overview Broken heart syndrome is a heart condition that's often brought on by stressful situations and extreme emotions. The condition also can be triggered by a serious physical illness or surgery. Broken heart syndrome is often a temporary condition. But some people may continue to feel unwell after the heart is healed. People with broken heart syndrome may have sudden chest pain or think they're having a heart attack. Broken heart syndrome affects just part of the heart. It briefly interrupts the way the heart pumps blood.
    • Tako-Tsubo Cardiomyopathy Orphanet
      A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS). Epidemiology Takotsubo syndrome (TTS) is found in about 1-3% of all patients with symptoms of ACS; however, the prevalence is likely underestimated. Around 90% of TTS patients are women, typically postmenopausal but male and younger patients are diagnosed increasingly due to raised awareness of the syndrome. Clinical description In the acute phase, clinical presentation, electrocardiography (ECG) and cardiac biomarkers are similar to those of ACS. Typical symptoms are acute chest pain or dyspnea. Further symptoms can arise from complications of TTS, e.g. heart failure, cardiogenic shock, or cardiac arrest.
  • Meningitis Wikipedia
    In these cases, the persons are more likely to be infected with Staphylococci , Pseudomonas , and other Gram-negative bacteria. [8] These pathogens are also associated with meningitis in people with an impaired immune system . [2] An infection in the head and neck area, such as otitis media or mastoiditis , can lead to meningitis in a small proportion of people. [8] Recipients of cochlear implants for hearing loss are more at risk for pneumococcal meningitis. [27] Tuberculous meningitis , which is meningitis caused by Mycobacterium tuberculosis , is more common in people from countries in which tuberculosis is endemic, but is also encountered in persons with immune problems, such as AIDS . [28] Recurrent bacterial meningitis may be caused by persisting anatomical defects, either congenital or acquired, or by disorders of the immune system . [29] Anatomical defects allow continuity between the external environment and the nervous system . ... It may identify bacteria in bacterial meningitis and may assist in distinguishing the various causes of viral meningitis ( enterovirus , herpes simplex virus 2 and mumps in those not vaccinated for this). [21] Serology (identification of antibodies to viruses) may be useful in viral meningitis. [21] If tuberculous meningitis is suspected, the sample is processed for Ziehl-Neelsen stain , which has a low sensitivity, and tuberculosis culture, which takes a long time to process; PCR is being used increasingly. [28] Diagnosis of cryptococcal meningitis can be made at low cost using an India ink stain of the CSF; however, testing for cryptococcal antigen in blood or CSF is more sensitive. [52] [53] A diagnostic and therapeutic difficulty is "partially treated meningitis", where there are meningitis symptoms after receiving antibiotics (such as for presumptive sinusitis ). ... While tuberculosis of the lungs is typically treated for six months, those with tuberculous meningitis are typically treated for a year or longer. [28] Steroids [ edit ] Additional treatment with corticosteroids (usually dexamethasone ) has shown some benefits, such as a reduction of hearing loss , and better short term neurological outcomes [71] in adolescents and adults from high-income countries with low rates of HIV. [72] Some research has found reduced rates of death [72] while other research has not. [71] They also appear to be beneficial in those with tuberculosis meningitis, at least in those who are HIV negative. [73] Professional guidelines therefore recommend the commencement of dexamethasone or a similar corticosteroid just before the first dose of antibiotics is given, and continued for four days. [45] [46] Given that most of the benefit of the treatment is confined to those with pneumococcal meningitis, some guidelines suggest that dexamethasone be discontinued if another cause for meningitis is identified. [8] [45] The likely mechanism is suppression of overactive inflammation. [74] Additional treatment with corticosteroids have a different role in children than in adults.
    C8B, C8A, CRP, HCN1, HCN2, IL10, PRF1, BTK, TLR4, HLA-B, CYBB, WIPF1, LAMC2, JAK3, FOXP3, IL12A, IGLL1, SH2D1A, IGHM, IGH, ERAP1, HLA-DRB1, HLA-DPB1, HLA-DPA1, NDE1, ICOS, PTPN22, BLNK, TBK1, CXCR4, TLR3, KLRC4, TCF3, STAT4, RAG2, RAG1, PRTN3, PIK3R1, STAG2, NCF4, NCF2, TNFRSF13B, NLRC4, MEFV, LRRC8A, WAS, CR2, CD79B, CTLA4, CSF2, C4A, NLRP3, CCR1, TNFRSF13C, FAS, DNASE1L3, CD79A, IL23R, BCL2, CD19, UBAC2, BCL6, CYBA, C4B, XIAP, IL12A-AS1, CYBC1, NCF1, VANGL1, TNF, IL6, MBL2, MMP9, CADM1, CXCL8, ST11, TLR2, BPI, GAST, NOD2, CXCL11, BDNF, CD248, MYD88, RECQL4, VIM, BATF, EGF, ENOSF1, LINC01672, IL2RG, TGFB1, CXCL10, ICAM1, IL1B, GALNS, TCF12, PAGR1, MECP2, TNFSF10, PER2, CNTNAP1, MARCO, ARTN, RIPK2, SAMM50, NEURL1, IRAK4, CARD9, ARHGEF28, CARD14, DDX56, TLR9, MARCHF9, IL23A, AADAT, SLC46A1, LRG1, MSC, LAMP3, SUMF2, NCOA6, IFNL3, WDHD1, CYCSP51, FST, UBAC1, ABCB6, PARP1, NEU1, HSP90B1, IGFBP2, PRMT1, HLA-G, HLA-A, CFH, GYPC, CXCL1, GDNF, GC, FN1, FCGR3A, FCGR2A, FCGR1A, ESR1, ERBB2, EGFR, CSF3, COX8A, CHI3L1, CDS1, CD47, CAT, CAMP, C4BPA, AQP4, KLK3, APRT, AMBP, IFNG, IL1RN, TIMP1, IL17A, THBS1, PRDX2, STAT3, SLC11A1, CCL8, CCL3, PRNP, PDE7A, SERPINE1, OMP, OGG1, OAS3, OAS2, NTF3, NOS3, AGRP, MPO, MMP12, MMP8, MMP3, CXCL9, MFAP1, MDK, MAPT, LYZ, LSAMP, IL18, LOC108281177
    • Meningitis Mayo_clinic
      Overview Meningitis is an infection and inflammation of the fluid and membranes surrounding the brain and spinal cord. These membranes are called meninges. The inflammation from meningitis typically triggers symptoms such as headache, fever and a stiff neck. Most cases of meningitis in the United States are caused by a viral infection. But bacteria, parasites and fungi also can cause it. Some cases of meningitis improve without treatment in a few weeks. Others can cause death and require emergency antibiotic treatment. Seek immediate medical care if you suspect that you or someone in your family has meningitis.
  • Actinic Keratosis Wikipedia
    The HPV virus has been detected in AKs, with measurable HPV viral loads (one HPV-DNA copy per less than 50 cells) measured in 40% of AKs. [28] Similar to UV radiation, higher levels of HPV found in AKs reflect enhanced viral DNA replication. ... Histopathologic exam remains the gold standard Polarized contact dermoscopy of AKs occasionally reveals a "rosette sign," described as four white points arranged in a clover pattern, often localized to within a follicular opening. [40] It is hypothesized that the "rosette sign" corresponds histologically to the changes of orthokeratosis and parakeratosis known as the "flag sign." [40] Non-pigmented AKs: linear or wavy vascular patterning, or a "strawberry pattern," described as unfocused vessels between hair follicles, with white-haloed follicular openings. [41] Pigmented AKs: gray to brown dots or globules surrounding follicular openings, and annular-granular rhomboidal structures; often difficult to differentiate from lentigo maligna. [42] Prevention [ edit ] Ultraviolet radiation is believed to contribute to the development of actinic keratoses by inducing mutations in epidermal keratinocytes, leading to proliferation of atypical cells. [43] Therefore, preventive measures for AKs are targeted at limiting exposure to solar radiation, including: Limiting extent of sun exposure Avoid sun exposure during noontime hours between 10:00 AM and 2:00 PM when UV light is most powerful Minimize all time in the sun, since UV exposure occurs even in the winter and on cloudy days [44] Using sun protection Applying sunscreens with SPF ratings 30 or greater that also block both UVA and UVB light, at least every 2 hours and after swimming or sweating [44] Applying sunscreen at least 15 minutes before going outside, as this allows time for the sunscreen to be absorbed appropriately by the skin [44] Wearing sun protective clothing such as hats, sunglasses, long-sleeved shirts, long skirts, or trousers Recent research implicating human papillomavirus (HPV) in the development of AKs suggests that HPV prevention might in turn help prevent development of AKs, as UV-induced mutations and oncogenic transformation are likely facilitated in cases of active HPV infection. [28] A key component of HPV prevention includes vaccination , and the CDC currently recommends routine vaccination in all children at age 11 or 12. [45] There is some data that in individuals with a history of non-melanoma skin cancer, a low-fat diet can serve as a preventative measure against future actinic keratoses. [37] Management [ edit ] This section needs more medical references for verification or relies too heavily on primary sources .
    TP53, XPA, CDKN2A, BCL2, PTGS2, MAL, H3P10, AK1, HRAS, BRAF, AK3, PPARA, AK4, VDR, MC1R, SMAD4, INPP5A, TNC, CCL27, H2AX, GSTM1, CD274, EGFR, MAPK1, FOXP3, TLR7, TNFSF10, AIMP2, XPC, SMIM10L2B, VIM, MIR204, TYR, TP53BP1, TMX2-CTNND1, TNF, TLR4, TAC1, STAT3, SSTR2, SSTR1, SST, TMC8, SMARCA2, ENDOV, SLC2A1, SDHD, RPE65, MTCO2P12, KRT72, MIR31, SLC24A4, AHSA1, TLR8, HPLH1, PDCD4, POLDIP2, RNF19A, PART1, SIRT1, MIB1, UBA5, TXNDC5, ZMPSTE24, CLDN1, MAPK3, KNSTRN, PRRT2, ABCB6, SMIM10L2A, BCAR1, AIM2, GRAP2, RPS6KA5, PTTG1, SCO2, AHR, PRKCB, MAPK14, GHR, MLANA, FLG, FHL1, FGFR3, FAP, ERCC1, EGF, TYMP, CYP24A1, CTNND1, CSE1L, CRK, HK2, CLDN7, COL17A1, CKS1B, CDKN2B, CDKN1A, CDK4, CD40LG, CFB, AR, AQP3, FASLG, AK2, CFH, HOXC4, PRKCA, CD200, PPT1, PPP5C, PLXNA2, PIK3CA, PI3, PCNA, PEBP1, CLDN11, MYC, MMUT, COX2, MSH2, MMP12, IRF4, MMP3, MMP2, MMP1, MKI67, MCM2, LMNA, LIG4, LBR, KRT17, KRT16, IVL, ITGB4, PLD2
    • Actinic Keratosis Mayo_clinic
      Overview An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on the skin that develops from years of sun exposure. It's often found on the face, lips, ears, forearms, scalp, neck or back of the hands. Actinic keratosis Actinic keratoses are scaly spots or patches on the top layer of skin. With time they may become hard with a wartlike surface. Also known as a solar keratosis, an actinic keratosis grows slowly and usually first appears in people over 40. You can reduce your risk of this skin condition by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays.
  • Gallstone Wikipedia
    Risk factors for pigment stones include hemolytic anemias (such as from sickle-cell disease and hereditary spherocytosis ), cirrhosis , and biliary tract infections. [25] People with erythropoietic protoporphyria (EPP) are at increased risk to develop gallstones. [26] [27] Additionally, prolonged use of proton pump inhibitors has been shown to decrease gallbladder function, potentially leading to gallstone formation. [28] Cholesterol modifying medications can affect gallstone formation. ... November 2013. Archived from the original on 28 July 2016 . Retrieved 27 July 2016 . ^ a b c d e f g Lee, JY; Keane, MG; Pereira, S (June 2015).
    ABCB4, ASPG, ABCG8, UGT1A4, UGT1A10, UGT1A8, UGT1A7, UGT1A6, ABCB11, UGT1A9, UGT1A5, UGT1A3, HBB, ABCG5, BAZ2B, DELEC1, GCGR, GDF2, GP1BB, GPR35, CA10, FRMD4A, TNC, GTF2I, GYPC, UGT1A1, HK1, SMAD4, LIMK1, STX12, TBL2, MYPN, ZNF28, UROS, UFD1, HIRA, TPI1, TCF4, TBX1, BAZ1B, SPTB, SPTA1, SMPD1, SLC4A1, GTF2IRD1, GNA14, SEC24C, RREB1, GNE, PEX19, SEC23B, PKLR, PFKM, MYO10, MST1, HMCN1, RFC2, TANC1, SH2D4B, CYP27A1, SGCZ, JMJD1C, COMT, TMEM114, MIR646HG, C22orf34, BPGM, DMPK, BLVRA, ARVCF, APOE, AIRE, ANK1, ALDOA, ACVRL1, DACH1, CLIP2, EPB41, EPB42, FECH, ENG, ELN, GUSBP11, L3MBTL4, SLC10A2, UGT1A, CCK, APOB, NR1H4, NPC1L1, CYP7A1, UGGT1, SLC35A2, LDLR, PNPLA3, CCKAR, SERPINA1, TNF, MUC5AC, HNF4A, IL6, CRP, LRP2, SLCO1B1, ALB, TLR4, CYP17A1, GUSB, SLCO1A2, AR, LRPAP1, ACAT2, PTGS2, PPARG, EGFR, OGG1, CETP, G6PD, LEPR, SLC22A7, XPC, MIR372, CXCL16, CLDN2, OPN1MW2, PART1, ZGLP1, ABCC3, POT1, PLA2G10, GLP2R, RETN, ST8SIA4, OR10A4, MICA, CCL28, PPARGC1B, OPN1MW3, BMF, XRCC1, XPR1, MIR210, NRXN3, PCSK9, CDHR5, GSTK1, DDX53, SLCO6A1, NR1H3, PPARGC1A, LINC01194, SLC51B, IFIH1, FGF19, GGTLC1, FAIM2, ATP11A, CHD1L, EHMT1, ABCG2, LIX1, ADIPOQ, SMUG1, MIR122, NAT2, VIPR1, OPN1MW, ESR1, ESR2, FABP2, FABP6, FEN1, FGFR4, FMO3, GCG, GLP1R, DPEP1, GPER1, GPT, GPX1, GPX3, GSTM1, GSTT1, HBA1, HBA2, EGF, CYP8B1, HIF1A, CCT, ADCYAP1, ADRB3, APC, APEX1, APOBEC1, APOC1, ARSA, CAT, CD36, CTLA4, CDK4, CDX2, CLIC1, CCR5, ABCC2, MAP3K8, CLDN3, CR1, HHEX, HLA-A, VEGFA, SLC11A1, RBP4, RNASEL, RPL4, SORT1, S100A8, SHBG, SHH, SLC10A1, SOD1, PLA2G2A, SPINK1, SPP1, SST, SULT1E1, TGFB1, TLR2, TP53, TRAF3, MAP2K5, SERPINB5, HMGB1, LCN2, HMGCR, HMOX1, IL1B, IL1RN, IL10, IL13, IL18, KRT18, LEP, ABCB1, MBNL1, MC4R, MECP2, MMP2, MMP9, MUC1, MUC2, NOS2, LOC102724197
    • Gallstones Mayo_clinic
      Overview Gallstones are hardened deposits of digestive fluid that can form in your gallbladder. Your gallbladder is a small, pear-shaped organ on the right side of your abdomen, just beneath your liver. The gallbladder holds a digestive fluid called bile that's released into your small intestine. Gallstones Gallstones are hardened deposits of bile that can form in your gallbladder. Bile is a digestive fluid produced in your liver and stored in your gallbladder.
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