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  • Tetralogy Of Fallot Wikipedia
    Retrieved 2009-01-02 . ^ Russell, Mark W.; Chung, Wendy K.; Kaltman, Jonathan R.; Miller, Thomas A. ... PMID 29523523 . ^ a b c d e f g h i j k l m n o p q Munoz R, Morell V, Cruz E, Vetterly C (2010). ... PMID 14517948 . ^ Lambrechts D, Devriendt K, Driscoll DA, Goldmuntz E, Gewillig M, Vlietinck R, et al. ... PMC 325224 . PMID 7787464 . ^ Farouk A, Zahka K, Siwik E, Erenberg F, Al-Khatib Y, Golden A, et al.
    ZFPM2, NKX2-5, JAG1, GATA4, TBX1, GATA6, GDF1, GJA5, CITED2, FLT4, GATA5, NKX2-6, FOXC2, FOXH1, HAND2, FGF8, FOXC1, HEY2, MKS1, BMP10, NTF3, INVS, DNAH5, PHC1, DOCK1, NRP1, HIRA, UFD1, NOTCH1, COMT, PTPN11, FN1, TAB2, MKKS, RFC2, RET, NOTCH2, NODAL, UBE2T, INTU, ROR2, CCDC22, SPECC1L, RAD51C, RAD51, DLL1, PTCH1, PIGN, NIPBL, RPH3A, TBL2, PAH, HIBCH, ATXN2, CERS1, RPL5, TDGF1, GTF2IRD1, PIGL, NR2F2, TGIF1, TPM1, UBE2A, SLC35A2, BAZ1B, CLIP2, WT1, XRCC2, ZIC2, CXCR4, ALX1, SEC24C, TTC37, SEMA3E, SIX3, RREB1, MAD2L2, SF3B4, SALL1, CDON, SHH, SKI, TMEM94, SKIV2L, PQBP1, SH2B3, RBM8A, WASHC5, FIG4, NID1, LINC02676, DACT1, STRA6, DDX59, NAA25, EHMT1, PALB2, CRELD1, NXN, ELN, SLX4, EPHB4, ERCC4, PRDM16, FANCM, FANCA, COX3, BRIP1, DISP1, FANCE, BRAF, ZFPM2-AS1, RNU4ATAC, ALX3, ARVCF, RERE, BRCA1, BRCA2, COL2A1, EOGT, MYRF, HECTD4, JMJD1C, CHD4, CHRM3, FANCD2, FANCC, FANCB, SALL4, COX2, COX1, SUFU, RAB23, DLL4, KCNAB2, FANCL, RFWD3, FANCI, CHD7, LIMK1, VAC14, FANCF, HDAC8, RBPJ, RBM10, FOXF1, FANCG, GTF2I, ARID1B, DOCK6, GP1BB, GLI2, ARHGAP31, FGFR1, GPC5, GAS1, GABRD, VEGFA, TBX20, CHDH, HAND1, GJA1, KDR, TGFB1, VANGL2, MIR421, MIR1233-1, SULT1E1, MTHFR, APOE, HIF1A, REN, PVR, PITX2, MMP9, NPPB, MEIS2, FBN2, MAVS, GPR42, HAS2, MMP3, HOXA1, ACKR3, DGCR8, MMP2, HTC2, JARID2, FBN1, LPA, LRPAP1, LSAMP, MAP4, MBNL1, FEZF2, SLC50A1, IQGAP1, F5, TSPYL2, ADRA2B, AGT, ALDH2, MIR625, MIR424, BRS3, CAD, CD48, CRKL, CRP, CYBA, ACE, DMD, FSD1L, DNAH8, DNMT1, DNMT3B, DNTT, CORO7, FSD1, DVL2, EDNRA, EGF, F2, MYL4, CHMP5, TCF21, SLN, SNAI2, SCO2, REC8, SMN1, SMN2, SSTR4, ADRA1A, TADA2A, TBX5, RGS6, WNT11, TFAP2B, CHD1L, TFAP2C, TTN, VIM, LPAR2, BEST1, MBD2, AVSD1, ALDH1A2, MBNL2, ACSM3, RYR2, RXRA, NTRK3, OPRD1, PBX1, PBX3, PDGFA, LAMP3, PECAM1, AATF, PFKL, SUN2, PLN, PTH, DICER1, RASA1, MMRN1, ROBO1, BVES, WWP2, PPARGC1A, ROCK1, CXCR6, ACTC1
    • Tetralogy Of Fallot Orphanet
      Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. Epidemiology This combination of lesions occurs in 1 of every 35,0000-30,000 live births, and accounts for 7-10% of all congenital cardiac malformations. Clinical description Patients nowadays usually present as neonates, with cyanosis of varying intensity based on the degree of obstruction to flow of blood to the lungs. Etiology The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22.
    • Tetralogy Of Fallot Gard
      Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.
    • Tetralogy Of Fallot Mayo_clinic
      Overview Tetralogy of Fallot (teh-TRAL-uh-jee of fuh-LOW) is a rare condition caused by a combination of four heart defects that are present at birth (congenital). These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Infants and children with tetralogy of Fallot usually have blue-tinged skin because their blood doesn't carry enough oxygen. Tetralogy of Fallot is often diagnosed while the baby is an infant or soon after. Sometimes, depending on the severity of the defects and symptoms, tetralogy of Fallot is not detected until adulthood.
    • Tetralogy Of Fallot Omim
      A number sign (#) is used with this entry because tetralogy of Fallot (TOF) can be caused by heterozygous mutation in the JAG1 gene (601920) on chromosome 20p12, the NKX2-5 gene (600584) on chromosome 5q35, the GATA4 gene (600576) on chromosome 8p23. Tetralogy of Fallot is also a well-recognized feature of many syndromes, including the 22q11 microdeletion syndrome (188400) and trisomy 21 (190685), and has been found to be caused by mutations in several genes, including ZFPM2 (603693), TBX1 (602054), and GATA6 (601656). Inheritance Pitt (1962) described a family in which 11 persons had either TOF or one of its components. The diagnosis was confirmed at operation or autopsy in 5 of the 11. The large study of Boon et al. (1972) led to the conclusions that heritability is about 54% and that in sibs the recurrence risk is about 1% for Fallot tetralogy and about 2% for any cardiac defect. The family that Der Kaloustian et al. (1985) reported may be a special type of Fallot tetralogy, inherited, the authors suggested, as an autosomal recessive.
  • Agoraphobia Wikipedia
    Towards the end of his life, he acquired some control over the condition. [ citation needed ] Daryl Hannah (b. 1960), American actress [51] Howard Hughes (1905–1976), American aviator , industrialist , film producer and philanthropist [52] Olivia Hussey (b. 1951), Anglo-Argentine actress [53] [54] Shirley Jackson (1916–1965), American writer – her agoraphobia is considered to be a primary inspiration for the novel We Have Always Lived in the Castle . [55] [56] Elfriede Jelinek (b. 1946), Austrian writer, Nobel Prize laureate in Literature in 2004 [57] Bolesław Prus (1847–1912), Polish journalist and novelist [58] Peter Robinson (b. 1962), British musician known as Marilyn [59] Brian Wilson (b. 1942), American singer and songwriter, primary songwriter of the Beach Boys, a former recluse and agoraphobic who has schizophrenia [60] See also [ edit ] Hikikomori List of phobias 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 American Psychiatric Association (2013), Diagnostic and Statistical Manual of Mental Disorders (5th ed.) , Arlington: American Psychiatric Publishing, pp. 217–221, 938 , ISBN 978-0890425558 ^ a b c "Agoraphobia" . ... PMID 2886145 . ^ Cosci F, Schruers KR, Abrams K, Griez EJ (June 2007). "Alcohol use disorders and panic disorder: a review of the evidence of a direct relationship". ... PMID 17592911 . ^ Cosci F, Knuts IJ, Abrams K, Griez EJ, Schruers KR (May 2010). ... Attachment and Loss (Vol. 2: Separation). ^ Jacobson K (2004). "Agoraphobia and Hypochondria as Disorders of Dwelling".
    CREBBP, SGCE, EP300, ADORA2A, GLRB, SCLY, TAL1, KRT7, HTR1A, GAD1, GRP, MIR22, NPSR1, TPH2, BDNF, CAMKK2, CRH, CRP, SLC6A4, SLC6A2, P2RX7, NPY, MAOA, ACE, OPN1SW, HCRTR1, HCRT, GRPR, MIR491
    • Agoraphobia Mayo_clinic
      Overview Agoraphobia (ag-uh-ruh-FOE-be-uh) is a type of anxiety disorder. Agoraphobia involves fearing and avoiding places or situations that might cause panic and feelings of being trapped, helpless or embarrassed. You may fear an actual or upcoming situation. For example, you may fear using public transportation, being in open or enclosed spaces, standing in line, or being in a crowd. The anxiety is caused by fear that there's no easy way to escape or get help if the anxiety gets overwhelming. You may avoid situations because of fears such as getting lost, falling, or having diarrhea and not being able to get to a bathroom.
  • Tracheobronchial Injury Wikipedia
    PMID 17767714 . ^ a b c d e f g h i j k l m n o p q r s t u v w x Chu CP, Chen PP (2002). ... PMID 12002920 . ^ a b c d e f g h i j k l m n o p q r s t u Johnson SB (2008). ... PMID 18420127 . ^ a b c d e f g h i j k l m Stark P (1995). "Imaging of tracheobronchial injuries". ... PMID 3283046 . ^ 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 Karmy-Jones R, Wood DE (2007). ... PMID 11463564 . ^ a b c d e f g h i j k l Euathrongchit J, Thoongsuwan N, Stern EJ (2006).
  • Viral Disease Wikipedia
    University of South Carolina School of Medicine. ^ 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 ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs bt bu bv bw bx by bz ca cb cc cd ce cf cg ch ci cj ck cl cm cn co cp cq cr cs ct cu cv cw cx cy cz da db dc dd de df dg dh di dj dk dl dm dn do dp dq dr ds dt du dv dw dx dy dz ea eb ec ed ee ef eg eh ei ej ek el em en eo ep eq er es et eu ev ew ex ey ez fa fb fc fd fe ff fg fh fi fj fk fl fm fn fo fp fq fr fs ft fu fv fw fx fy fz ga gb gc gd ge gf gg gh gi Fisher, Bruce; Harvey, Richard P.; Champe, Pamela C. (2007). ... Retrieved 7 September 2020 . ^ 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 ab ac ad ae af ag ah ai aj ak al am Table 1 in: Dimitrov, Dimiter S. (2004). ... PMID 21994671 . ^ Cook, S.; Moureau, G.; Harbach, R. E.; Mukwaya, L.; Goodger, K.; Ssenfuka, F.; Gould, E.; Holmes, E. ... PMID 25183845 . ^ a b c d e f g h i j k l m n o p "Herpesviridae" . ViralZone .
  • Medical Abortion Wikipedia
    ISSN 0010-7824 . PMID 23756114 . ^ Gambir, K; Kim, C; Necastro, KA; Ganatra, B; Ngo, TD (March 9, 2020). ... CS1 maint: numeric names: authors list ( link ) 20.237% Mifegyne + 3.021% Medikamentöser Abbruch = 23.257% medical abortions ^ a b Jones, Rachel K.; Witwer, Elizabeth; Jerman, Jenna (2019). ... Helsinki: Suomen virallinen tilasto (Official Statistics of Finland), Terveyden ja hyvinvoinnin laitos (National Institute for Health and Welfare), Finland. ^ Jones, Rachel K.; Jerman, Jenna (January 17, 2017). ... This study could end the debate" . April 17, 2019. ^ Jones, Rachel K.; Kooistra, Kathryn (March 2011). ... The Washington Post . p. A3. ^ Jones, Rachel K.; Finer, Lawrence B.; Singh, Shusheela (May 4, 2010).
  • Vocal Cord Dysfunction Wikipedia
    An overall prevalence of 2.5% has been reported in patients presenting with asthma. [19] Among adults with asthma considered "difficult to control", 10% were found to have VCD while 30% were found to have both VCD and asthma. [6] Among children with severe asthma, a VCD prevalence rate of 14% has been reported. [6] However, higher rates have also been reported; among one group of schoolchildren thought to suffer from exercise-induced asthma, it was found that 26.9% actually had VCD and not asthma. [4] Among intercollegiate athletes with exercise-induced asthma, the VCD rate has been estimated at 3%. [4] In patients presenting with symptoms of dyspnea, prevalence rates ranging from 2.8% to 22% have been reported in various studies. [6] [4] [19] It has been reported that two to three times more females than males suffer from VCD. [6] [4] [25] VCD is especially common in females who suffer from psychological problems. [4] There is an increased risk associated with being young and female. [4] Among patients suffering from VCD, 71% are over the age of 18. [6] In addition, 73% of those with VCD have a previous psychiatric diagnosis. [6] VCD has also been reported in newborns with gastroesophageal reflux disorder (GERD). [4] See also [ edit ] Puberphonia References [ edit ] ^ a b c d e f g h i j k Colton RH, Casper JK, Leonard R (2011). ... Retrieved 26 September 2018 . ^ 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 ab ac Ibrahim WH, Gheriani HA, Almohamed AA, Raza T (March 2007). ... PMID 17344570 . ^ a b c d e f g h i j k l m n o p q r Deckert J, Deckert L (2010). ... PMID 20082511 . ^ 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 Gimenez LM, Zafra H (April 2011).
  • Sunburn Wikipedia
    . ^ Premi S, Han L, Mehta S, Knight J, Zhao D, Palmatier MA, Kornacker K, Brash DE. Genomic sites hypersensitive to ultraviolet radiation. ... PMC 3232447 . PMID 21734176 . ^ a b c d e Wolff K, Johnson R, Saavedra A (2013). Fitzpatrick's color atlas and synopsis of clinical dermatology (7th ed.). ... ISBN 978-0-07-179302-5 . OCLC 813301093 . ^ Wolff, K, ed. (2017). "PHOTOSENSITIVITY, PHOTO-INDUCED DISORDERS, AND DISORDERS BY IONIZING RADIATION" . ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews® . ... PMID 17914160 . S2CID 22417600 . ^ Schagen, S. K.; Zampeli, V. A.; Makrantonaki, E.; Zouboulis, C.
    • Sunburn Mayo_clinic
      Overview Sunburn is inflamed, painful skin that feels hot to the touch. It often appears within a few hours of being in the sun too long. You can get sunburn relief with simple self-care measures such as taking pain relievers and cooling the skin. But it may take days for the sunburn to fade. Preventing sunburn year-round by wearing sunscreen or using other skin-protection habits is important for everyone. It is especially important when you're outdoors, even on cool or cloudy days. Symptoms Sunburn symptoms can include: Inflamed skin, which looks pink or red on white skin and may be harder to see on brown or Black skin Skin that feels warm or hot to the touch Pain, tenderness and itching Swelling Small, fluid-filled blisters, which may break Headache, fever, nausea and fatigue, if the sunburn is severe Eyes that feel painful or gritty Any exposed part of the body — including the earlobes, scalp and lips — can burn.
    • Solar Erythema Wikipedia
      Solar erythema Specialty Dermatology Solar erythema is a skin condition characterized by redness of the skin following exposure to ultraviolet light , not to be confused with sunburn . [ further explanation needed ] [1] : 27 See also [ edit ] Skin lesion References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . v t e Radiation-related disorders / Photodermatoses Ultraviolet / ionizing Sunburn Phytophotodermatitis Solar urticaria Polymorphous light eruption Benign summer light eruption Juvenile spring eruption Acne aestivalis Hydroa vacciniforme Solar erythema Non-ionizing Actinic rays Actinic keratosis Atrophic actinic keratosis Hyperkeratotic actinic keratosis Lichenoid actinic keratosis Pigmented actinic keratosis Actinic cheilitis Actinic granuloma Actinic prurigo Chronic actinic dermatitis Infrared / heat Erythema ab igne ( Kangri ulcer Kairo cancer Kang cancer Peat fire cancer ) Cutis rhomboidalis nuchae Poikiloderma of Civatte Other Radiation dermatitis Acute Chronic radiodermatitis ) Favre–Racouchot syndrome Photoaging Photosensitivity with HIV infection Phototoxic tar dermatitis This cutaneous condition article is a stub . You can help Wikipedia by expanding it . v t e
  • Cystocele Wikipedia
    More recently, the use of stem cells, robot-assisted laparoscopic surgery are being used to treat cystocele. [37] See also [ edit ] Hysterectomy Fecal incontinence Sigmoidocele Urethropexy 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 ab "Cystocele (Prolapsed Bladder)" . ... Archived from the original on 2017-10-25. ^ a b c d e f g h i j k l m Williams, J. Whitridge (2012). ... PMID 29214325 . ^ a b c d e f g h i j k l Henry, Norma Jean E (2016). RN adult medical surgical nursing review module (10th ed.). ... OCLC 779244257 . ^ a b Rahn, David D.; Ward, Renée M.; Sanses, Tatiana V.; Carberry, Cassandra; Mamik, Mamta M.; Meriwether, Kate V.; Olivera, Cedric K.; Abed, Husam; Balk, Ethan M. (2015-01-01). ... J. M.; Withagen, M. I. J.; Kluivers, K. B.; Milani, A. L.; Vierhout, M. E. (2013-10-01).
    COL3A1, SMAD3, CHPT1, DHDDS
  • Vertebral Artery Dissection Wikipedia
    The ball struck Hughes on the base of the skull just behind his left ear which caused a vertebral artery dissection complicated by subarachnoid hemorrhage . [22] 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 ab ac ad ae af ag ah ai aj ak al am an ao ap aq Kim YK, Schulman S (April 2009). ... PMID 19269682 . ^ a b c d e f g h i j k l m n o p q r Debette S, Leys D (July 2009). ... PMID 19539238 . ^ a b c d e f g h i j k l Campos-Herrera CR, Scaff M, Yamamoto FI, Conforto AB (December 2008). ... PMID 24300790 . ^ a b c Haynes MJ, Vincent K, Fischhoff C, Bremner AP, Lanlo O, Hankey GJ (2012).
    COL3A1, COL5A2, C20orf181
  • Transmission And Infection Of H5n1 Wikipedia
    Avian influenza – epidemiology of human H5N1 cases reported to WHO The regression curve for deaths is y = a + e k x , and is shown extended through the end of April, 2007. ... A Colour Atlas and Text on Avian Influenza : 13–20. ^ S. Bano S; K. Naeem K; S.A. Malik (2003). "Evaluation of pathogenic potential of avian influenza virus serotype H9N2 in chicken" . ... Archived from the original on 2007-10-17. ^ C Li; K Yu; G TiaG; D Yu; L Liu; B Jing; J Ping; H.
  • Hyperthymesia Wikipedia
    It is also open to question how far it is an all-or-none condition, or whether people can have the condition to different degrees. K. Anders Ericsson of Florida State University does not believe that sufficient evidence exists to suggest that the skills of AJ and Williams need additional explanation: "Our work has pretty much concluded that differences in memory don't seem to be the result of innate differences, but more the kinds of skills that are developed." [39] McGaugh rejects the idea that hyperthymestic syndrome can be explained away so easily; he argues that nothing explains how subjects are able to memorize so much: "You'd have to assume that every day they rehearse it... ... His hyperthymesia memories are visually depicted in the movie as "screens" appearing to Keegan, often in an overwhelming and distressing manner. [44] See also [ edit ] Daniel McCartney Hypermnesia Eidetic memory References [ edit ] ^ a b c d e f g h i j k Parker ES, Cahill L, McGaugh JL (February 2006). ... PMID 16806314 . ^ a b Patihis, L.; Frenda, S. J.; LePort, A. K. R.; Petersen, N.; Nichols, R. M.; Stark, C. ... Ceci Susan Clancy Hermann Ebbinghaus Sigmund Freud Patricia Goldman-Rakic Jonathan Hancock Judith Lewis Herman HM (patient) Ivan Izquierdo Marcia K. Johnson Eric Kandel KC (patient) Elizabeth Loftus Geoffrey Loftus Chris Marker James McGaugh Paul R.
  • Progressive Supranuclear Palsy Wikipedia
    CS1 maint: multiple names: authors list ( link ) ^ Online Mendelian Inheritance in Man (OMIM): 601104 ^ Josephs, K. A.; Ishizawa, T.; Tsuboi, Y.; Cookson, N.; Dickson, D. ... PMID 11912113 . ^ Amano N, Iwabuchi K, Yokoi S, Yagishita S, Itoh Y, Saitoh A, et al. ... S2CID 20275104 . ^ Hattori M, Hashizume Y, Yoshida M, Iwasaki Y, Hishikawa N, Ueda R, Ojika K (August 2003). "Distribution of astrocytic plaques in the corticobasal degeneration brain and comparison with tuft-shaped astrocytes in the progressive supranuclear palsy brain". ... PMID 20129321 . S2CID 33349776 . ^ Abe K (January 2008). "Zolpidem therapy for movement disorders". ... Retrieved 2020-12-09 . ^ https://www.independent.ie/life/health-wellbeing/health-features/i-dont-want-to-believe-i-have-an-incurable-brain-disease-but-i-know-i-have-former-rte-presenter-kieron-wood-38614857.html ^ Tomita S, Oeda T, Umemura A, Kohsaka M, Park K, Yamamoto K, et al. (August 13, 2015).
    MAPT, STX6, MOBP, EIF2AK3, SRSF2, TRA2B, SLCO1A2, TRIM11, SP1, PSPH, REG1A, SNCA, RIDA, STXBP3, MSMB, PSPN, TPO, CD8B, ASAP1, RUNX2, BPIFA2, PIK3C2G, IRF4, APOE, SLC6A3, TARDBP, LRRK2, NEFL, SOD1, CIT, C9orf72, CSF2, MAOB, GRN, LAMC2, DCTN1, STH, SMUG1, PRKN, UBB, PYCARD, NPC1, APP, TYMS, CRHR1, TH, TGM2, SLC25A38, ATXN2, GFAP, IGLON5, CST3, NPEPPS, VEGFA, RAB35, YWHAE, OGA, CXCR4, PICALM, NPC2, SNCAIP, BSN, MAP3K14, OPN1MW3, DUSP10, ARL17B, ROCK2, SCRN1, MAP4K4, NF1P1, UNC13A, DNAJB1P1, FLAD1, UBASH3B, SPECC1, FOXP2, RMDN2, ASXL1, MCIDAS, SETX, MIR132, MIR518E, GGTLC5P, GGTLC3, GGT2, OPN1MW2, CTNNBL1, SYBU, PSPC1, RMDN3, LRRC37A4P, TET2, TMEM106B, TREM2, LCMT1, PPME1, RMDN1, GGTLC4P, PSAT1, TBK1, CSDC2, LMOD1, SF3B1, MINK1, NAT1, TPI1, OPN1MW, FMR1, MTOR, FUS, GABPA, GABRG2, GBA, GGT1, EGFR, GLDC, GSTM1, NRG1, HSPA4, DNAJB1, IFNG, ERBB4, DLX1, IGFALS, CASP3, AP2A2, ANXA6, KLK3, BDNF, BNIP1, BRCA1, CBS, ACE, CDK5, CHI3L1, CLU, CRP, CTSS, CYP2D6, IGF1, IL2, TP53BP1, MAP2K4, PSEN2, PTEN, PTPRC, RAPSN, ROCK1, ATXN8OS, NAT2, PROS1, SPOCK1, SPP1, TCOF1, TGFB1, TGM1, TNF, PSEN1, PRNP, IL6, NR4A2, IRS1, MUSK, NFE2L2, NGF, NOS1, NSF, PAEP, PTPA, PAFAH1B1, PDK1, PIN1, PLAG1, PLCG2, PLXNA2, ATXN2-AS
    • Parkinson-Dementia Syndrome Omim
      A number sign (#) is used with this entry because of evidence that a form of atypical supranuclear palsy is caused by mutation in the microtubule-associated protein tau gene (MAPT; 157140). Clinical Features Mata et al. (1983) described 2 brothers and a sister with a 'new' Parkinson-dementia syndrome. The disorder, characterized also by ophthalmoparesis and pyramidal signs, came on in the third decade and progressed for several years. Kyphoscoliosis was present in all 3 sibs. Examination of the brain in the sister, who died at age 31 years, showed neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei. The parents were not related. The authors suggested that the disorder most closely resembled the Parkinson-dementia complex of Guam (105500) but could be distinguished by the lack of Chamorro descent (a dubious argument) and the earlier age of onset.
    • Progressive Supranuclear Palsy Mayo_clinic
      Overview Progressive supranuclear palsy is an uncommon brain disorder that causes serious problems with walking, balance and eye movements, and later with swallowing. The disorder results from deterioration of cells in areas of your brain that control body movement, coordination, thinking and other important functions. Progressive supranuclear palsy is also called Steele-Richardson-Olszewski syndrome. Progressive supranuclear palsy worsens over time and can lead to life-threatening complications, such as pneumonia and swallowing problems. There's no cure for progressive supranuclear palsy, so treatment focuses on managing the signs and symptoms.
    • Progressive Supranuclear Palsy Orphanet
      A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Epidemiology Prevalence is conservatively estimated at about 1/16,600. Clinical description PSP usually manifests during the sixth or seventh decade of life. Five clinical variants have been described with clinicopathological correlations: Classical PSP (Richardson's syndrome), and four atypical variants of PSP including PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS), and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms). Richardson's syndrome is the most common clinical variant and manifests with a lurching gait, falls due to postural instability, cognitive impairment and slowing of vertical saccadic eye movements.
    • Supranuclear Palsy, Progressive, 3 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104). Mapping Using a pooling-based genomewide association study of more than 500,000 SNPs in 288 patients with PSP and 344 age- and sex-matched controls, Melquist et al. (2007) identified candidate SNPs with large differences in allelic frequency by ranking all SNPs by their probe-intensity difference between cohorts. The MAPT H1 haplotype (see 157140) was strongly detected by this approach as was a second major locus (PSNP3) on chromosome 11p12-p11 that showed evidence of association at allelic (p less than 0.001), genotypic (p less than 0.001), and haplotypic (p less than 0.0001) levels and was narrowed to a single haplotype block containing the DNA damage-binding protein-2 (DDB2; 600811) and lysosomal acid phosphatase-2 (ACP2; 171650) genes. Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, Melquist et al. (2007) considered both genes to be viable candidates for conferring risk of disease.
    • Supranuclear Palsy, Progressive, 2 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104). Clinical Features De Yebenes et al. (1995) studied a 5-generation Spanish family in which progressive supranuclear palsy was transmitted as an autosomal dominant trait. The proband had the classic presentation of this disorder beginning with axial rigidity, slowness of movement, and gait difficulty. Over the course of 2 years he progressed to complete vertical gaze palsy, axial dystonia, and retrocollis, as well as generalized severe akinesia. Postmortem examination demonstrated neuronal loss and atrophy of the brainstem, cerebellum, and diencephalon.
    • Supranuclear Palsy, Progressive, 1 Omim
      A number sign (#) is used with this entry because of evidence that progressive supranuclear palsy-1 (PSNP1) is caused by heterozygous mutation in the gene encoding microtubule-associated protein tau (MAPT; 157140) on chromosome 17q21. Description Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons.
    • Progressive Supranuclear Palsy Gard
      Progressive supranuclear palsy (PSP) is a degenerative neurologic disease due to damage to nerve cells in the brain. Signs and symptoms vary but may include loss of balance; blurring of vision; problems controlling eye movement; changes in mood, behavior and judgment; cognitive decline; and slowing and slurred speech. PSP is often misdiagnosed as Parkinson disease due to similar symptoms. Onset is usually after age 60 but may occur earlier. Most cases of PSP appear to be sporadic , but familial cases have been reported. Some cases have been found to be caused by a mutation in the MAPT gene, and other genetic factors are being studied.
    • Classic Progressive Supranuclear Palsy Syndrome Orphanet
      Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. Epidemiology The prevalence is conservatively estimated at about 1/16,600. Clinical description PSP usually manifests during the sixth or seventh decade of life with postural instability and falls, slowing of vertical saccadic eye movements and cognitive slowing. Progressively patients develop other eye abnormalities (dry and red eyes, blurred vision, spontaneous involuntary eyelid closure, photophobia), a dysexecutive cognitive syndrome with impulsivity, problems in speech (slow speech) and a supranuclear gaze palsy and difficulties in swallowing. The disease is characterized neuropathologically by gliosis with astrocytic plaques, accumulation of tau-immunoreactive neurofibrillary tangles and neuronal loss in specific brain areas, especially in the subthalamic nucleus and the substantia nigra.
  • Helminthiasis Wikipedia
    PMID 23285307 . ^ a b Lustigman S.; Prichard R. K.; Gazzinelli A.; Grant W. N.; Boatin B. ... ISBN 978-9241547109 . ^ Prichard R. K.; Basáñez M. G.; Boatin B. A.; McCarthy J. ... PMID 26063472 . ^ a b Lustigman S.; Prichard R. K.; Gazzinelli A.; Grant W. N.; Boatin B. ... PMID 22325616 . ^ Lozano, R.; Naghavi, M.; Foreman, K.; Lim, S.; Shibuya, K.; Aboyans, V.; Abraham, J.; Adair, T.; et al. (15 December 2012). ... "Helminths" . In Kayser, F. H.; Bienz, K. A.; Eckert, J.; Zinkernagel, R. M.
    IL4, IL13, IL5, IL10, IL33, IL9, IFNG, IL25, IL17A, FOXP3, MYDGF, CCL11, BCL11B, NELFCD, GREM1, PRDX5, NMUR1, ADIPOQ, IL1RL1, ABO, FBXW7, EOMES, SUCNR1, RETN, CYSLTR2, CLEC7A, NBEAL1, FUZ, SETD7, NLRP3, LINGO2, SERPINA13P, SUCLA2, STAT6, TYROBP, FCER2, AGXT, ARNTL, TNFRSF8, TNFSF8, CD38, CRP, CSF2, CTSB, EGFR, MS4A2, GAMT, TNFRSF4, GLB1, IL1A, IL1B, IL4R, ITGAX, LTBR, SERPINA1, ADCY9, TGFB1, TNFSF4, MIR155
  • Lassa Fever Wikipedia
    The chip model has been used to show the therapeutic effects of FX-06 for Lassa virus disease. [45] 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 ab ac ad ae af "Lassa fever" . ... S2CID 31217913 . ^ a b c d Richmond, J. K.; Baglole, D. J. (2003). "Lassa fever: Epidemiology, clinical features, and social consequences" . ... C.; Imomeh, P.; Odike, M. A.; Gire, S.; Andersen, K.; Sabeti, P. C.; Happi, C. T.; Akpede, G. ... A.; Scribner, C. L.; Craven, R. B.; Johnson, K. M.; Elliott, L. H.; Belmont-Williams, R. (2 January 1986).
    DAG1, CDKN2C, LAMP3, ERVK-20, TPPP2, ERVK-6, LAMTOR1, SARS2, TMBIM4, ATRAID, ERVW-1, SLC17A5, CFL1, IFI30, ZNF197, EEF1E1, MAFK, UBE2I, SARS1, LSAMP, LAMP1, H3P12
    • Lassa Fever Orphanet
      Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure. Epidemiology LF is endemic in West Africa. Lack of surveillance prohibits accurate estimates of incidence, but estimates range up to 300,000-500,000 infections and 5,000-10,000 cases of LF per year. Up to 80% of infections are thought to be asymptomatic or mild. Clinical description After an incubation period of 1-3 weeks (range 3-21 days), patients typically present with the insidious onset of non-specific signs and symptoms including fever, sore throat, malaise, headache, chest pain and myalgia/arthralgia, followed rapidly by gastrointestinal manifestations (vomiting, diarrhea, abdominal pain) and, in some cases, rash. In the second week, severe cases develop neck and facial swelling, bleeding (usually from the nose and mouth), neurologic involvement, shock and multi-organ system failure. Mild-to-moderate leukopenia and thrombocytopenia are often present. Deafness is a sequelae in up to 30% of survivors.
  • Trichotillomania Wikipedia
    Trichotillomania Other names Trichotillosis, hair pulling disorder, [1] compulsive hair pulling A pattern of incomplete hair loss on the scalp of a person with trichotillomania Pronunciation / ˌ t r ɪ k ə ˌ t ɪ l ə ˈ m eɪ n i ə / TRIK -ə- TIL -ə-MAY-NEE-ə Specialty Dermatology , psychiatry Symptoms Visible hair loss , distress [1] [2] Usual onset Childhood or adolescence [2] Risk factors Family history, anxiety , obsessive compulsive disorder [1] Diagnostic method Based on symptoms, seeing broken hairs [1] Differential diagnosis Body dysmorphic disorder [1] Medication Cognitive behavioral therapy , clomipramine [3] Frequency ~2% [2] [3] Trichotillomania ( TTM ), also known as hair pulling disorder or compulsive hair pulling , is a mental disorder characterized by a long-term urge that results in the pulling out of one's hair . [2] [4] This occurs to such a degree that hair loss can be seen. [2] A brief positive feeling may occur as hair is removed. [5] Efforts to stop pulling hair typically fail. ... ISBN 9780520255678 . ^ 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 Chamberlain SR, Menzies L, Sahakian BJ, Fineberg NA (April 2007). ... PMID 17403968 . ^ 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 Sah, Deborah E; Koo, John; Price, Vera H (January 2008). ... PMID 19505779 . ^ a b c d e Tay, Y.-K.; Levy, M. L.; Metry, D. W. (30 April 2004).
    SLITRK1, HOXB8, PTCH1, PHIP, TRAF7, SHANK3, KDR, NOS2, TLR9
    • Trichotillomania Omim
      A number sign (#) is used with this entry because of evidence that trichotillomania is caused by heterozygous mutation in the SLITRK1 gene (609678) on chromosome 13q31. One such patient has been reported. Description Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; 137580) or obsessive-compulsive disorder (OCD; 164230) (review by Novak et al., 2009). Clinical Features Kerbeshian and Burd (1991) reported a 37-year-old woman with trichotillomania manifest as chronic pulling out of her eyebrows and eyelashes.
  • Lichen Sclerosus Wikipedia
    Br J Dermatol . 150 (1): 168–169. doi : 10.1111/j.1365-2133.2004.05707.x . PMID 14746647 . ^ Eisendle, K; Grabner, TG; Kutzner, H (2008). "Possible Role of Borrelia burgdorferi Sensu Lato Infection in Lichen Sclerosus" . ... PMID 26070005 . ^ Fistarol, Susanna K.; Itin, Peter H. (2012). "Diagnosis and Treatment of Lichen Sclerosus" . ... PMID 23329078 . ^ Smith, Yolanda R; Haefner, Hope K (2004). "Vulvar Lichen Sclerosus". ... PMID 16831147 . ^ Fistarol, Susanna K (2013). "Diagnosis and treatment of lichen sclerosus: an update" .
    TP53, CDKN2A, ECM1, H3P10, TNF, IL1B, CAT, RBP2, S100A7, CCL4, CCL4L2, SOD1, TRBV20OR9-2, THBS1, RARB, PTGS1, CRISP2, ARHGEF1, FSCN1, RASSF2, SERPINA1, MMRN1, CADM1, KRT20, MIB1, SPZ1, MIR155HG, PRSS55, CXCL17, CCL4L1, MIR155, LINC01191, DEFB4B, PTCH1, AFM, PCNA, IL1A, CCND1, CALCA, MS4A1, CRABP2, CCN2, DEFB4A, FLG, GATA3, CXCR3, GZMB, HLA-B, HSPA4, IL1RN, AR, IL13, CXCL10, IRF6, KRAS, KRT1, KRT17, SMAD3, MAL, MGMT, MKI67, MMP9, COX1, MUC2
    • Lichen Sclerosus Mayo_clinic
      Overview Lichen sclerosus (LIE-kun skluh-ROW-sus) is a condition that causes patchy, discolored, thin skin. It usually affects the genital and anal areas. Anyone can get lichen sclerosus but postmenopausal women are at higher risk. It isn't contagious and can't be spread through sexual contact. Treatment is usually a medicated ointment. This treatment helps return the skin to its usual color and reduces the risk of scarring. Even if your symptoms clear up, they tend to come back. So you'll likely need long-term follow-up care.
    • Lichen Sclerosus Et Atrophicus Omim
      Lichen sclerosus et atrophicus is a relatively uncommon cutaneous disorder that may affect any area. There is a particular predilection, however, for involvement of the female genitalia. Although typically the patient is a middle-aged female, prepubertal females may also develop this disorder. Shirer and Ray (1987) stated that about 18 cases of familial LSA had been reported. They concluded that 'heredity plays a role in some, if not all, cases.'
    • Lichen Sclerosus Gard
      Lichen sclerosus (LS) affects the skin leading to scarring around the genital and anal areas. It can occur at any age but mainly occurs in women over the age of 50. It mainly affects the skin around the vagina, anus, and tip of the penis. Symptoms can include white lesions or plaques, pain during urination, itching, and pain during intercourse. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering.
  • Aspirin Exacerbated Respiratory Disease Wikipedia
    . ^ Kalaria RN, Maestre GE, Arizaga R, Friedland RP, Galasko D, Hall K, Luchsinger JA, Ogunniyi A, Perry EK, Potocnik F, Prince M, Stewart R, Wimo A, Zhang ZX, Antuono P (September 2008). ... PMID 12421891 . ^ Cowburn AS, Sladek K, Soja J, Adamek L, Nizankowska E, Szczeklik A, Lam BK, Penrose JF, Austen FK, Holgate ST, Sampson AP (February 1998). ... August 3, 2018. ^ Glicksman JT, Parasher AK, Doghramji L, Brauer D, Waldram J, Waters K, Bulva J, Palmer JN, Addapa ND, White AA, Bosso JV (July 2018). ... S2CID 12166132 . ^ Bochenek G, Bánska K, Szabó Z, Nizankowska E, Szczeklik A (March 2002).
    PTGER2, TBX21, HLA-C, HLA-DRB1, SERPINA1
  • Birt–hogg–dubé Syndrome Wikipedia
    Homozygotes die in utero. [3] References [ edit ] Citations ^ a b c Genetics Home Reference . ^ a b c d e f g h i j k l m n o Andrews 2011 . ^ a b c d e f g h i j k l m n o p Reese et al. 2009 . ^ a b c d e f Palmirotta et al. 2010 . ^ 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 Toro 2008 . ^ a b c d e f g h i j k l m n o p q r Menko et al. 2009 . ^ a b Chan-Smutko 2012 , p. 345. ^ a b c d e f g Coleman & Russo 2009 , p. 482. ^ a b Furuya & Nakatani 2012 . ^ Grant, Babar & Griffin 2009 , p. 442. ^ Devine & Garcia 2012 , p. 4. ^ Coleman & Russo 2009 , p. 481. ^ Nickerson et al. 2002 . ^ a b c d e Toro et al. 2008 . ^ a b Maher 2011 . ^ Sudarshan et al. 2013 . ^ Napolitano G, Di Malta C, Esposito A, de Araujo MEG, Pece S, Bertalot G, Matarese M, Benedetti V, Zampelli A, Stasyk T, Siciliano D, Venuta A, Cesana M, Vilardo C, Nusco E, Monfregola J, Calcagnì A, Di Fiore PP, Huber LA, Ballabio A (September 2020).
    FLCN, MPRIP, BHD, MET, MTOR, CXCR3, HIF1A, KRT7, TSC1, TSC2, VEGFA, FNIP2, CCM2, SSH2, FNIP1, COPD
    • Birt-Hogg-Dubé Syndrome Gene_reviews
      Summary Clinical characteristics. The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types.
    • Birt-Hogg-Dube Syndrome Omim
      A number sign (#) is used with this entry because Birt-Hogg-Dube syndrome (BHD), also known as Hornstein-Knickenberg syndrome, is caused by heterozygous mutation in the gene encoding folliculin (FLCN; 607273) on chromosome 17p11. See also primary spontaneous pneumothorax (173600), an allelic disorder that may represent a milder part of the spectrum of the BHD syndrome. Description Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340). Clinical Features Hornstein and Knickenberg (1975) first described this disorder as 'perifollicular fibromatosis cutis with polyps of the colon' in 2 sibs.
    • Birt-Hogg-Dubé Syndrome Orphanet
      Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. Epidemiology The prevalence of BHD is estimated at 1/200,000 but the exact incidence is unknown. There have been more than 100 families affected by BHD. Clinical description The kidney tumors in BHD patients range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Hybrid tumors may also sometimes develop in the kidney of a BHD patient.
    • Birt-Hogg-Dubé Syndrome Medlineplus
      Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors.
    • Birt-Hogg-Dube Syndrome Gard
      Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan . While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
  • Diffuse Panbronchiolitis Wikipedia
    S2CID 23668839 . ^ a b c d e f g h i j k l m n o p q r s t Poletti V, Casoni G, Chilosi M, Zompatori M (October 2006). ... PMID 17012632 . ^ a b c d e Yanagihara K, Kadoto J, Kohno S (2001). "Diffuse panbronchiolitis--pathophysiology and treatment mechanisms". ... The major histocompatibility complex: its genes and their roles in antigen presentation . 15 . Pergamon. ^ a b c d e f g h i j k Keicho N, Hijikata M (May 2011). "Genetic predisposition to diffuse panbronchiolitis" . ... PMID 8977613 . ^ Yamanaka A, Saiki S, Tamura S, Saito K (March 1969). "[Problems in chronic obstructive bronchial diseases, with special reference to diffuse panbronchiolitis]".
    MUCL3, MUC5B, HLA-B, HLA-A, ERCC2, ITGB2, GTF2H5, TENT5A, FEV, SEC14L2, NXF1, USO1, MLN, MBL2, ITGAL, ERCC3, ITGA4, IL17A, CXCL8, GTF2H4, GTF2H3, GTF2H2, GTF2H1, GC, FLNB, MUC22
    • Panbronchiolitis, Diffuse Omim
      Description Diffuse panbronchiolitis (DPB) is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles. 'Diffuse' refers to the distribution of the lesions throughout both lungs, and 'pan-' refers to the involvement of inflammation in all layers of the respiratory bronchioles. Onset of the disorder occurs in the second to fifth decade of life, and is clinically manifest by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis. If untreated, the disorder progresses to bronchiectasis, respiratory failure, and death (summary by Poletti et al., 2006). Clinical Features Yamanaka et al. (1969) first described a chronic airway disease in Japan.
    • Diffuse Panbronchiolitis Orphanet
      Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
    • Diffuse Panbronchiolitis Gard
      Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs ( bronchiolitis ) and chronic sinusitis . It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive over months to years. Common symptoms include chronic sinusitis, a productive cough (producing mucus), breathlessness with exertion, wheezing, and weight loss (especially as symptoms worsen). The exact cause of DPB is not known, but a variety of genetic, environmental, and systemic factors appear to contribute to the condition.
  • Coeliac Disease Wikipedia
    Autoimmune disorder that results in a reaction to gluten Coeliac disease Other names Celiac sprue, nontropical sprue, endemic sprue, gluten enteropathy Biopsy of small bowel showing coeliac disease manifested by blunting of villi , crypt hypertrophy , and lymphocyte infiltration of crypts Pronunciation / ˈ s iː l i æ k / SEE -lee-ak Specialty Gastroenterology , internal medicine Symptoms None or non-specific , abdominal distention , diarrhoea , constipation , malabsorption , weight loss, dermatitis herpetiformis [1] [2] Complications Iron-deficiency anemia , osteoporosis , infertility , cancers , neurological problems , other autoimmune diseases [3] [4] [5] [6] [7] Usual onset Any age [1] [8] Duration Lifelong [6] Causes Reaction to gluten [9] Risk factors Genetic predisposition , type 1 diabetes , autoimmune thyroid disease , Down and Turner syndromes , Diagnostic method Family history , blood antibody tests, intestinal biopsies , genetic testing , response to gluten withdrawal [10] [11] Differential diagnosis Inflammatory bowel disease , intestinal parasites , irritable bowel syndrome , cystic fibrosis [12] Treatment Gluten-free diet [13] Frequency ~1 in 135 [14] Coeliac disease or celiac disease is a long-term autoimmune disorder that primarily affects the small intestine . [10] Classic symptoms include gastrointestinal problems such as chronic diarrhoea , abdominal distention , malabsorption , loss of appetite , and among children failure to grow normally . [1] This often begins between six months and two years of age. [1] Non-classic symptoms are more common, especially in people older than two years. [8] [15] [16] There may be mild or absent gastrointestinal symptoms, a wide number of symptoms involving any part of the body or no obvious symptoms. [1] Coeliac disease was first described in childhood; [6] [8] however, it may develop at any age. [1] [8] It is associated with other autoimmune diseases , such as Type 1 diabetes mellitus and Hashimoto's thyroiditis , among others. [6] Coeliac disease is caused by a reaction to gluten , a group of various proteins found in wheat and in other grains such as barley and rye . [9] [17] [18] Moderate quantities of oats , free of contamination with other gluten-containing grains, are usually tolerated. [17] [19] The occurrence of problems may depend on the variety of oat. [17] [20] It occurs in people who are genetically predisposed . [10] Upon exposure to gluten, an abnormal immune response may lead to the production of several different autoantibodies that can affect a number of different organs . [4] [21] In the small bowel, this causes an inflammatory reaction and may produce shortening of the villi lining the small intestine ( villous atrophy ). [10] [11] This affects the absorption of nutrients, frequently leading to anaemia . [10] [18] Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies , helped by specific genetic testing . [10] Making the diagnosis is not always straightforward. [22] Frequently, the autoantibodies in the blood are negative, [23] [24] and many people have only minor intestinal changes with normal villi. [25] People may have severe symptoms and they may be investigated for years before a diagnosis is achieved. [26] [27] Increasingly, the diagnosis is being made in people without symptoms , as a result of screening . [28] Evidence regarding the effects of screening, however, is not sufficient to determine its usefulness. [29] While the disease is caused by a permanent intolerance to gluten proteins, [10] it is distinct from wheat allergy , which is much more rare. [30] The only known effective treatment is a strict lifelong gluten-free diet , which leads to recovery of the intestinal mucosa, improves symptoms and reduces the risk of developing complications in most people. [13] If untreated, it may result in cancers such as intestinal lymphoma and a slightly increased risk of early death. [3] Rates vary between different regions of the world, from as few as 1 in 300 to as many as 1 in 40, with an average of between 1 in 100 and 1 in 170 people. [14] It is estimated that 80% of cases remain undiagnosed, usually because of minimal or absent gastrointestinal complaints and lack of knowledge of symptoms and diagnostic criteria. [5] [26] [31] Coeliac disease is slightly more common in women than in men. [32] Contents 1 Signs and symptoms 1.1 Gastrointestinal 1.2 Malabsorption-related 1.3 Miscellaneous 2 Cause 2.1 Other grains 2.2 Risk modifiers 3 Pathophysiology 3.1 Genetics 3.2 Prolamins 3.3 Tissue transglutaminase 3.4 Villous atrophy and malabsorption 4 Diagnosis 4.1 Blood tests 4.2 Endoscopy 4.3 Pathology 4.4 Other diagnostic tests 4.5 Gluten withdrawal 5 Screening 6 Treatment 6.1 Diet 6.2 Refractory disease 7 Epidemiology 8 History 9 Social and culture 9.1 Christian churches and the Eucharist 9.1.1 Roman Catholic position 9.2 Passover 9.3 Spelling 10 Research directions 11 References 12 External links Signs and symptoms [ edit ] The classic symptoms of untreated coeliac disease include pale, loose, or greasy stools ( steatorrhoea ), and weight loss or failure to gain weight. ... Whether or not a gluten-free diet brings this risk back to baseline is not clear. [39] Long-standing and untreated disease may lead to other complications, such as ulcerative jejunitis (ulcer formation of the small bowel) and stricturing (narrowing as a result of scarring with obstruction of the bowel). [40] Malabsorption-related [ edit ] The changes in the bowel make it less able to absorb nutrients, minerals, and the fat-soluble vitamins A, D, E, and K. [18] [41] Malabsorption of carbohydrates and fats may cause weight loss (or failure to thrive or stunted growth in children) and fatigue or lack of energy. ... Selenium malabsorption in coeliac disease, combined with low selenium content in many gluten-free foods, confers a risk of selenium deficiency , [42] Copper and zinc deficiencies have also been associated with coeliac disease. [42] A small proportion have abnormal coagulation due to vitamin K deficiency and are slightly at risk for abnormal bleeding. ... Other intestinal disorders may have biopsy that look like coeliac disease including lesions caused by Candida. [86] Villous atrophy and malabsorption [ edit ] The inflammatory process, mediated by T cells , leads to disruption of the structure and function of the small bowel's mucosal lining and causes malabsorption as it impairs the body's ability to absorb nutrients , minerals, and fat-soluble vitamins A, D, E, and K from food. Lactose intolerance may be present due to the decreased bowel surface and reduced production of lactase but typically resolves once the condition is treated.
    MYO9B, HLA-DQB1, HLA-DQA1, BACH2, THEMIS, IL15, ZMIZ1, IFNG, CTLA4, HLA-DPB1, TGM2, ICOSLG, IL21, ETS1, MMP3, CXCL10, FCGR3A, MAGI2, UBD, CXCL11, MMP12, CD80, TFF1, APOB, TNFRSF9, ASAH2, CD36, CXCL9, LRAT, LPL, LCN2, CAPN8, TNFRSF14, CCR4, UGT1A4, IFI27, UPB1, SLC6A14, ACE, PIWIL2, VNN1, SOAT2, PCK1, RUNX3, GBP5, APOC3, S100A9, IL2, CD28, IL12A, SH2B3, ICOS, TAGAP, LPP, HLA-DQA2, IL23R, KIAA1109, CCR3, IL2RA, CIITA, ATG16L1, IL18R1, SMAD3, FUT2, PPP1R12B, FRMD4B, CD247, PUS10, MMEL1, ZNF335, PLEK, YDJC, NFIA, NCF2, POU2AF1, NKAIN2, IRF1-AS1, MST1, HECTD4, LURAP1L, SLC9A4, LINC02649, C1orf141, LINC01185, PTEN, CRB1, MROH3P, PTPRK, LINC01934, LINC00993, IL12A-AS1, IL6, IL10, LINC00824, IL12RB1, LINC01250, IL17A, INS-IGF2, MICA, IRF4, IRF5, AFF3, NONOP2, UQCRC2P1, C6orf99, ADCY7, ATXN2, RBM45, TNPO3, ELMO1, MYNN, SMG7, TNFSF15, INAVA, DLEU1, UBASH3A, SRCAP, IGF2-AS, ATXN2L, FNBP1, FOXP3, CNTNAP2, PHLDB1, ADGRL2, NRXN1, ARHGAP31, ERAP2, RMI2, LRRK2, SPIB, STAT3, STAT4, SUOX, TCF4, TNF, CARD9, WNT3, ANKRD30A, GATD3A, TMEM187, NKD1, ANKRD55, ACACA, PTPN2, DAG1, ABCC6, RUNX1, ZFP36L1, HLA-DRB1, GPR35, ACAD8, HP, PTPN22, IL18, LINC01193, IL18RAP, CFTR, PREP, CELIAC2, CXCL8, TLR4, AGA, HLA-A, IL1B, HT, HFE, IL4, IL22, NXF1, USO1, TLR2, TOR1A, FLNB, SEC14L2, FCGR2A, KIR3DL1, CD14, NOS2, INS, IL1A, TRBV20OR9-2, NLRP3, STAT1, HLA-C, ICAM1, MMP1, TGM6, IBD5, MBL2, PON1, VDR, GOT2, CXCR3, TPO, DMD, HSPA1A, EGFR, KLRK1, TAP2, DEFB1, GEM, KLRC4-KLRK1, NTS, CCR9, SLC11A2, HSPA1B, BEST1, TGFB1, IRF1, HMGB1, HLA-G, MYD88, ISYNA1, HLA-DRB4, NFKB1, RGS1, CRP, CCK, SCHIP1, TNFRSF8, VEGFA, TSLP, CD19, TXN, TNFAIP3, REG1A, CD38, TJP1, CD59, CX3CL1, SDC1, PARD3, TG, TFRC, TLR9, CDR3, HIF1A, CNR2, DLG5, HLA-DRB3, FAS, ISG20, PAEP, ATP12A, CTNNB1, ATP4A, HLA-DPA1, IL15RA, KLRC2, MLH1, MIF, DEFA5, IFNA13, IFNA1, IL12B, MTHFR, IL5, CLDN2, GHRL, TOLLIP, NELFCD, IL23A, ISCU, TBC1D9, COX8A, GINS2, ACSL5, CLDN3, CTSB, CX3CR1, CLEC16A, CCN2, TRDC, CADM1, B3GAT1, TRDD3, TRAV26-1, TRDJ1, DLL1, CD209, PGPEP1, IGHV5-51, HPGDS, SPINK4, LAMP3, CLDN15, GBGT1, CSN2, IBD6, ULK3, CR2, CPOX, TBC1D7, CHMP2B, QPCT, TLR7, IGF1, ODR4, BCL2, ATD, BAK1, BAX, GSTK1, IRGM, BCKDHB, STPG4, OR10A4, TICAM1, NAPEPLD, SLC30A8, OLIG3, TMPRSS6, CST13P, NKX2-3, BDNF, MIR155, DEFB103A, HCG14, KIR2DL5B, PARP1, ADRA1A, AHR, ALB, ALK, OCLN, LINC01672, AMELX, AD12, AMH, ANPEP, ZGLP1, CCR2, ANXA11, APC, CFB, TRIM69, CCR5, KIR2DL5A, CD34, IFIH1, CD44, CD48, C6orf47, ZFAT, CDKN2A, CDKN2D, SLCO6A1, PNPLA2, DEFB103B, CHI3L1, CLC, IFT122, SLC30A10, CCR1, FTO, VTCN1, CD86, EHMT1, ADAD1, IL17RE, CD1D, CD3E, CD3G, CD4, MTG1, CD8A, IL33, ATAD1, NCALD, PNPLA3, TRABD, NLRP1, BTNL8, CCDC33, FCGRT, DMRT1, NHS, SERPINF1, PDGFB, GRINA, PBX3, TNFRSF11B, NT5E, NOS1, NFKBIB, DUSP10, GTF2A1, NDUFA2, GZMB, NCAM1, MUC1, MSH5, MSH2, ABCB1, SERPINA1, PI3, SERPINE2, GNAO1, PTH, PSMB6, PRL, PRKCQ, PRKCD, PPP6C, PON3, PON2, PML, PLA2G4A, PIK3CG, PIK3CD, PIK3CB, PIK3CA, HLA-B, MME, MLN, KIR3DL2, KCNJ11, IRF2, IRAK1, INSR, HNRNPD, IL13, IL12RB2, HSPA2, HSPD1, IL9, IL6R, IDDM3, IL5RA, IL2RB, IGHA1, KIR2DS1, L1CAM, HLA-DMB, LCT, MICB, HLA-DOA, MGMT, MEFV, MCL1, SMAD7, SMAD2, LYZ, LTBR, LTA, LSAMP, HLA-DQB2, LMO2, LMO1, LGALS1, PTPRC, GLS, RAC2, NCR1, COX5A, F2, HSPB3, F9, FAAH, TNFSF13, MADD, IGFALS, MTOR, SCG2, ZFP36, YY1, FUT4, VIP, UBE2L3, ETFA, ERBB2, TPMT, ELN, LILRA3, BTNL3, DNAH8, TNFSF13B, GNA13, CD226, DPP4, KAT5, CLEC10A, SEMA3A, PRSS16, OPTN, ABCB6, EGF, ELAVL2, TSHR, TNFRSF1A, RAG1, GH1, GLB1, SOX9, SOD1, SLC22A4, SLC6A4, SGK1, SELL, SELE, GLI1, CCL5, CCL2, GLI2, S100B, GLP1R, SNORA73A, SPINK1, STAT6, GABBR1, GCG, CLDN5, TLR3, TIMP1, TIA1, GAD1, TGM1, TGFB3, TGFA, TFF3, GAD2, TRD, TCN2, GATA3, TBX1, TAP1, H3P13
    • Celiac Disease Gene_reviews
      Summary Clinical characteristics. Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms. Diagnosis/testing. The diagnosis of celiac disease is established in an individual with: Positive celiac serologic testing while on a gluten-containing diet (tissue transglutaminase IgA, anti-deamidated gliadin-related peptide IgA and IgG, endomysial antibody IgA), Characteristic histologic findings on small-bowel biopsy, and Human leukocyte antigen (HLA) haplotype DQ2 or DQ8 identified by molecular genetic testing of HLA-DQA1 and HLA-DQB1 . Management. Treatment of manifestations: Lifelong adherence to a strict gluten-free diet (avoidance of wheat, rye, and barley); treatment of nutritional deficiencies (iron, zinc, calcium, fat-soluble vitamins, folic acid); standard treatment of osteoporosis. For individuals unresponsive to a gluten-free diet, evaluation for refractory celiac disease, ulcerative enteritis, T-cell lymphoma, and other gastrointestinal cancers.
    • Celiac Disease Mayo_clinic
      Vitamin and mineral supplements If your anemia or nutritional deficiencies are severe, your doctor or dietitian might recommend that you take supplements, including: Copper Folate Iron Vitamin B-12 Vitamin D Vitamin K Zinc Vitamins and supplements are usually taken in pill form.
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