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Alagille Syndrome:     more detail

Alagille syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonja Eubanks, 2005 Alagille Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19 Alagille syndrome with prominent skin manifestations.(Case Report) : An article from: Indian Journal of Dermatology, Venereology and Leprology by Sujata Sengupta, Jayanta Das, et all 2005-03-01

lists with details

81. The Health Library — Digestive System
    alagille syndrome. alagille syndromeChildren's Liver Association for SupportServices. What Is alagille syndrome?American Liver Foundation.  
    http://healthlibrary.stanford.edu/resources/internet/bodysystems/digestive4.html
    
    Extractions: Abdominal Pain Anal and Rectal Disease Anatomy Appendicitis ... Vomiting Digestive System: Page 1 Page 2 Page 3 Page 4 Page 5 Gallbladder and Bile Duct Diseases Gallbladder and Bile Duct Diseases:MEDLINEplus Bile Duct Cancer, see Cancer, Bile Duct Cancer Bile Reflux:Mayo Clinic Choledocholithiasis (Bile Duct Stones):Merck Manual Primary Sclerosing Cholangitis:NIDDK ... Primary Sclerosing Cholangitis: Mayo Clinic Cholecystitis (Gall Bladder Inflammation):Merck Manual Gallbladder Cancer, see Cancer, Gallbladder Cancer Gallstones:NIDDK Treatment of Gallstone and Gallbladder Disease:Society for Surgery of the Alimentary Tract About Cholecystectomy (Surgical Removal of the Gall Bladder):American College of Surgeons Laparoscopic Cholecystectomy:Society of American Gastrointestinal Endoscopic Surgeons Liver Diseases Liver Diseases (General):MEDLINEplus How the Liver Works:Lucile Packard Children's Hospital What are the Diseases That Affect the Liver?:American Liver Foundation The Liver Disorders Sourcebook:netLibrary ... Preventive Strategies in Chronic Liver Disease:American Academy of Family Physicians Alagille Syndrome Alagille Syndrome:Children's Liver Association for Support Services What Is Alagille Syndrome?:American Liver Foundation

82. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders
    Sites alagille syndrome Alliance Worldwide support network for peoplewho care about people with alagille syndrome hosted by talkcity.  
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

83. Directory :: Look.com
    alagille syndrome (5) See Also. alagille syndrome Alliance Worldwide support networkfor people who care about people with alagille syndrome hosted by talkcity.  
    http://www.look.com/searchroute/directorysearch.asp?p=550333

84. ATLAS- Alagille
    ATLAS PEDIATRIE. alagille syndrome. INDEX. SYNDROME D'ALAGILLE . alagille syndrome,Front Large, visage triangulaire. Large forehead, triangular face.  
    http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas2.htm
    
    Extractions: SYNDROME D'ALAGILLE . ALAGILLE SYNDROME Front Large, visage triangulaire Large forehead, triangular face Xanthoma due to hypercholesterolemia Paucity: absence of bile canalicule Flat face, high pitched voice Same child as in previous frame, 7 years later. Short stature, pruritus responding to Rifampycin, moderately abnormal LFT's. Additional images from the web: Xanthoma in Alagille

85. Thomas Gridley Staff Research Page - The Jackson Laboratory
    disease syndromes. One of these syndromes is alagille syndrome, whichis caused by mutations in the jagged 1 (JAG1) gene. In an  
    http://www.jax.org/staff/thomas_gridley.html
    
    Extractions: Genetic Analysis of Mouse Development and Disease The main interest of our laboratory is the study of genes important for embryonic development in mice, and the connections between mutations in these genes and congenital human disease syndromes. Our analyses focus on a developmental signaling pathway termed the Notch pathway, and on genes of the Snail family, which encode zinc finger-containing transcriptional repressors. The Notch signaling pathway is an evolutionarily conserved intercellular signaling mechanism. Genes of the Notch family encode transmembrane receptors that interact with membrane-bound ligands encoded by Delta/Serrate/Jagged family genes. The signal induced by ligand binding is transmitted intracellularly by a process involving proteolytic cleavage of the receptor and nuclear translocation of the intracellular domain of the Notch protein. Genes of the Notch signaling pathway have been cloned from numerous vertebrate organisms, and many are essential for normal embryonic development. In humans, mutations in genes encoding components of the Notch signaling pathway are found in one type of cancer and in three inherited disease syndromes. One of these syndromes is Alagille syndrome, which is caused by mutations in the jagged 1 (

86. Alagille Syndrome
    Founded 1993. Support network for anyone who cares about people with alagille syndrome,a genetic liver disorder. alagille syndrome. alagille syndrome Alliance.  
    http://www.bchealthguide.org/kbase/shc/shc29ala.htm

87. Indian Pediatrics - Editorial
    One baby had classical features of alagille syndrome – growth failure, abnormalfacies, posterior embryotoxon, peripheral pulmonic stenosis and butterfly  
    http://www.indianpediatrics.net/dec2001/dec-1430-1431.htm
    
    Extractions: Bile Duct Paucity (BDP) (syndromic – Alagille and non syndromic) is a well recognized, although uncommon cause of neonatal cholestasis(1-3). As the clinical presentation can closely resemble extra hepatic biliary atresia, BDP will be missed unless an infant with Neonatal Cholestasis (NC) undergoes a comprehensive work up including a liver biopsy. We present our experience of 5 cases seen over 3 years. A. Sibal, 1. Alagille D, Odievre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characterisitc facies, vertebral malformations, retarded physical, mental and sexual development and cardiac murmur. J Pediatr 1975; 86: 63-71. 2. Alagille D. Management of paucity of interlobular bile ducts. J Hepatol 1985; 1: 561-565.

88. Alagille's Syndrome - 3
    Dept. of Dermatology University of Iowa College of Medicine. alagille'sSyndrome / Arteriohepatic Dysplasia - Palmar Hand - Xanthomata.  
    http://tray.dermatology.uiowa.edu/Alagil03.htm

89. Alagille's Syndrome
    of clinical features, genetics and treatment of alagille'ssyndrome. alagille's syndrome Prof. J. Reichen First described  
    http://www.ikp.unibe.ch/lab2/Alagille.htm
    
    Extractions: Autosomal dominant disorder owing to mutations in the JAG1 gene on chromosome 20p12 (2;3). JAG1 codes for a NOTCH receptor ligand important in cell-cell interactions and in development. Different mutations have been described 70 % of which are sporadic (4). During embroygenesis JAG1 is expressed mainly in the cardiovascular system; in the liver it is associated with blood vessels. It is also expressed in other structures of mesenchymal origin suggesting that the variety of associated conditions are not chance associations (5). Clinical presentation, associated features: The classical syndrome consists of jaundice in early infancy, characteristic facies, pulmonary stenosis, butterfly vertebrae, growth and mental retardation and hypogonadism (1). In Emerick's series, 40 % had renal disease and stroke occurred in 14 % (6). The growth retardation is due to resistance to GH (7). Severe pruritus occurs in 45 % but can abate with age (6). Besides posterior embryotoxon a variety of other ocular anomalities have been described (8). Table 1 Frequency of main signs of Alagille's syndrome in the two largest series Alagille (9) (n= 80) Emerick (6) (n=92) Chronic cholestasis Characteristic facies Systolic murmur Butterfly vertebrae Posterior embryotoxon Other associated conditions include congenital mechanical obstruction of the small intestine (10), cystic renal disease (11), tubulo-interstitial nephropathy (12), exocrine pancreatic insufficiency (13), pancreas atrophy with diabetes mellitus (14), coproporphyrin abnormalities with photosensitivity (15).

90. Alagille, Syndrome : Arborescences MeSH
    Translate this page alagille, syndrome. alagille, syndrome C06.130.450.250.125 page CISMeF dumotclef cirrhose biliaire C06.130.450.250.250 page CISMeF du motclef  
    http://www.chu-rouen.fr/navimesh/navialagillesyndrome.html

91. Alagille's Syndrome (www.whonamedit.com)
    alagille's syndrome A congenital familial syndrome marked by clinical picturewith intrahepatic cholestasis, neonatal jaundice, and hepatomegaly.  
    http://www.whonamedit.com/synd.cfm/729.html
    
    Extractions: Arterio-hepatic dysplasia, cardiovertebral syndrome, cholestasis-peripheral pulmonary stenosis, cholestasis-pulmonary artery stenosis, cholestasis with peripheral pulmonary stenosis, hepatic ductular hypoplasia, hepatic ductal hypoplasia-multiple malformations syndrome, hepatofacial-neurocardiac-vertebral syndrome, cholestasis-pulmonary artery stenosis syndrome, hepatofacioneurocardiovertebral syndrome, paucity of interlobular ducts. A congenital familial syndrome with onset during first three months of life, affecting both sexes. Marked by clinical picture with intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct, neonatal jaundice, hepatomegaly (from 3rd month). Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight or bulbous nose, and skeletal anomalies; occasionally diffuse xanthomas (palms, extensor areas, creases), and pruritus, Harsh mesosystolic murmur. Growth and mental retardation. In males, hypogonadism. Etiology unknown. Inheritance is autosomal dominant with reduced penetrance and variable expressivity.

92. Daniel Alagille (www.whonamedit.com)
    Daniel alagille French paediatrician, born January 24, 1925,Paris. Associated with alagille's syndrome. Who named it?  
    http://www.whonamedit.com/doctor.cfm/153.html
    
    Extractions: Daniel Alagille in 1954 graduated from the University of Paris, where he also obtained a diploma in biochemistry. From 1954 to 1964 he worked in the Hôpial Saint-Vincent-de Paul and was appointed associate professor in 1963. He as elevated to full professor of paediatrics and clinical genetics at the Université Paris-Sud in 1971, also being staff physician and chairman of the department of paediatrics, Hôpital de Bicêtre, where he founded a paediatric liver unit. From 1964 he was chief of the paediatric liver research unit of the Institut National de la Santé et de la Recherche. He remained with the Hôpital de Bicêtre until his retirement in 1990. Alagille was chief editor of the Revue internationale d'hépatologie (1954-1971) and Archives françaises de pédiatrie (1964-1990). He has published more than 500 articles and several books. He became Chevalier de l'Ordre National du Mérite in 1967 and Chevalier de la Légion d'Honneur in 1988. By 1996 he was professor emeritus at the Université Paris-Sud in Bicêtre.

93. Alagille (syndrome D')
    Translate this page alagille. (syndrome d'). voir également ictère, foie, bile, cholestase, xanthome,embryotoxon, cholestérol. En anglais alagille's syndrome.  
    http://www.ifrance.com/hishem/Alagille.htm
    
    Extractions: voir également ictère, foie, bile, cholestase, xanthome, embryotoxon, cholestérol En anglais : Alagille's syndrome. Synonyme : paucité ductulaire. Absence partielle ou totale des canaux biliaires interlobulaires. Cette absence de canaux, destinés à conduire la bile à l'intérieur du foie, est due à une maladie génétique dont la transmission se fait sur le mode autosomique dominant (il suffit que l’un des 2 parents possède l'anomalie génétique pour que l'enfant présente la maladie). Ce syndrome se transmet à la descendance avec une expressivité variable (intensité variant suivant les individus). Symptômes Cholestase ou cholostase (diminution ou arrêt de l'écoulement de la bile) Hépatosplénomégalie (augmentation de volume du foie et de la rate) Prurit intense (démangeaison importante) Anomalies cardio-vasculaires (du cœur et des vaisseaux) le plus souvent à type de sténose de l'artère pulmonaire (fermeture du calibre de cette artère). Anomalies des vertèbres qui prennent une forme en aile de papillon Embryotoxon : arc constitué de composants graisseux se déposant autour de l'iris au niveau de la cornée.

94. Alagille (syndrome D')
    Translate this page alagille (syndrome d'). voir également ictère, foie, bile, cholestase, xanthome,embryotoxon, cholestérol. En anglais alagille's syndrome.  
    http://www.vulgaris-medical.com/texta/alagille.htm
    
    Extractions: Alagille (syndrome d') voir également ictère, foie, bile, cholestase, xanthome, embryotoxon, cholestérol En anglais : Alagille's syndrome. Synonyme : paucité ductulaire. Absence partielle ou totale des canaux biliaires interlobulaires. Cette absence de canaux, destinés à conduire la bile à l'intérieur du foie, est due à une maladie génétique dont la transmission se fait sur le mode autosomique dominant (il suffit que l’un des 2 parents possède l'anomalie génétique pour que l'enfant présente la maladie). Ce syndrome se transmet à la descendance avec une expressivité variable (intensité variant suivant les individus). Symptômes Cholestase ou cholostase (diminution ou arrêt de l'écoulement de la bile) Hépatosplénomégalie (augmentation de volume du foie et de la rate) Prurit intense (démangeaison importante) Anomalies cardio-vasculaires (du cœur et des vaisseaux) le plus souvent à type de sténose de l'artère pulmonaire (fermeture du calibre de cette artère). Anomalies des vertèbres qui prennent une forme en aile de papillon Embryotoxon : arc constitué de composants graisseux se déposant autour de l'iris au niveau de la cornée.

95. Alagille (syndrome D')
    Translate this page En anglais alagille's syndrome. Synonyme syndrome d’alagille.Absence partielle ou totale des canaux biliaires interlobulaires.  
    http://www.vulgaris-medical.com/textp/paucite.htm

96. Alagillen Oireyhtymä
    Kehitysvammahuollon tietopankki. Sapensalpaus, sydän ja verisuoni-sekä muut epämuodostumat. Alagillen oireyhtymä. Watson-Millerin  
    http://www.saunalahti.fi/kup/syndroma/alagille.htm
    
    Extractions: Interlobulaarinen sappitiehyeiden harvalukuisuus Oireyhtymällä tarkoitetaan sappitiehyeiden harvalukuisuuden aiheuttamaa sapensalpausta yhdistyneenä sydän- ja verisuoni- sekä muihin epämuodostumiin. Sen päätunnusmerkkeihin kuuluvat otsan kohoutuminen, syvälle asettuneet ja etäällä toisistaan sijaitsevat silmät, suora nenä ja suippo leuka, toisinaan myös käheä ääni ja muitakin epänormaaleja piirteitä. Keskitasoista kehitysvammaisuutta esiintyy noin 15 %:lla. Oireyhtymään kuuluvat myös nikamankaaren vauriot, nikaman keskiosan puuttuminen, puolinikamaisuus ja nikamien yhteensulautuminen, lannenikamien etäistyminen, vartalon ja kasvojen ihon verisuoniston laajentumisen aiheuttamat läiskät ja kämmenien punoitus, ihokarvoituksen niukkuus, heikentyneet refleksit, sydämen sivuäänet, keuhovaltimon ahtauma, sydämen väliseinävauriot, kehittymätön aortta, Fallotin tetralogia , krooninen sapensalpaus ensimmäisinä elinkuukausina ja sitä seuraava lapsuuden keltatauti, maksan ja pernan suurentuneisuus, verenpainetauti sekä mahdollisesti maksakirroosi, sukurauhasten sekä munuaisten kehittymättömyys, munuaisvaltimon ahtauma ja munuaisrappeuma.

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