41. Balloon Pulmonary Valvuloplasty And Stent Implantation. For Peripheral Pulmonary arteriohepatic dysplasia and cardiovascular malformations. Liver transplantationfor arteriohepatic dysplasia (Alagille s syndrome). http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=325508

42. ALAGILLE SYNDROME CASE REPORTS PEDIATRIC ONCALL Key words arteriohepatic dysplasia , chronic cholestasis, Patient wasclinically diagnosed as a case of arteriohepatic dysplasia or Alagille syndrome. http://www.pediatriconcall.com/fordoctor/casereports/alagille_syndrome.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out ALAGILLE SYNDROME UserName Password New Register Forgot password Dr Ira Shah M.D, DCH(Gold Medalist), FCPS, DNB Key words:- Arteriohepatic dysplasia , chronic cholestasis, pulmonary artery hypoplasia Introduction: Case :- 18 month old male child BONCM to normal parents presented with jaundice since 2 months of age, clay colored stools with high colored urine, and pruritis since l year. Patient was noticed to have cyanosis, which increased, on crying. He had dysmorphic features in form of deep-seated eyes, with prominent forehead and small pointed chin. Patient had hepatomegaly with 5cm palpable liver. He also had an ejection systolic murmur with soft and single second heart sound suggestive of tetralogy of fallot physiology. Patient was clinically diagnosed as a case of Arteriohepatic dysplasia or Alagille syndrome . 2 D echo showed subvalvalar pulmonary stenosis with left pulmonary artery not seen. USG Abdomen was suggestive of gall bladder sludge with hepatomegaly. His liver enzymes were elevated. There was hyperbilirubinemia with increased direct compound (2.4mg% D= 1.2 mg%). Serum cholesterol (316 mg%) and Triglyceride (352 mg%) were markedly elevated. Liver scan (HIDA) showed decreased excretion. Patient was advised cardiac catheterisation to assess the anatomical malformation and evaluate further treatment. Liver biopsy was not undertaken in this patient. He was treated with fat soluble vitamins, cholestyramine, ureodeoxycholic acid. His pruritis markedly subsided with above management. He was started on T. Propranalol for his cyanotic heart disease and discharged. He was advised surgery for heart disease and option for liver transplantation was explained.

43. Alagille Syndrome arteriohepatic dysplasia. AWS. Bile ducts paucity, syndromic form Alagille sSyndrome / arteriohepatic dysplasia Xanthomata Alagille s Syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=15

44. JN 2005; Vol.18 N.3: 312-317 Alagille syndrome (arteriohepatic dysplasia, OMIM 118450) is an autosomal arteriohepatic dysplasia (Alagille syndrome) extreme variability among http://www.sin-italy.org/jnonline/Vol18n3/312.html

Table of Contents Review J NEPHROL 2005; 18: 312-317 Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation S. Harendza , C. A. Hübner , C. Gläser , M. Burdelski , F. Thaiss , I. Hansmann , A. Gal , R. A. K. Stahl Departments of Nephrology, University Hospital Hamburg-Eppendorf, Hamburg - Germany Departments of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg - Germany Departments of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg - Germany Department of Human Genetics and Medical Biology, Martin-Luther-University Halle-Wittenberg, Halle/Saale - Germany ABSTRACT: Key Words. Alagille syndrome, JAG1 mutation, Renal failure , Renoparenchymal hypertension INTRODUCTION Alagille syndrome (arteriohepatic dysplasia, OMIM #118450) is an autosomal dominant multi-organ disorder with variable penetrance. It involves primarily liver, heart, eyes, face, and skeleton. Main phenotypical features are chronic cholestasis caused by paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, posterior embryotoxon, vertebral defects, and a typical face characterized by a triangular shape with prominent forehead, broad nasal bridge and pointed chin (1, 2). Less frequently occurring symptoms are growth retardation, delayed puberty and high-pitched voice, pancreatic insufficiency, mental retardation, neurovascular accidents, and renal abnormalities (3).

45. CHAPTER 6 REFERENCES General Aspects 1. Alagille D, Odièvre M Riely CA, Cotlier E, Jensen PS, Klatskin G arteriohepatic dysplasia A benign Shulman SA, Hyams JS, Gunta R, et al arteriohepatic dysplasia (Alagille http://tpis.upmc.edu/tpis/dlp/CHAP6REF.htm

General Aspects J Pediatr 106; 171-184, 1985 Semin Liver Dis 7: 61-66, 1987 J Hepatology 1: 545-559, 1985 Semin Liver Dis 7: 67-76, 1987 ... Prog Pediatr Surg 6: 113-139, 1974 Biliary Atresia Radiology 163: 377-379, 1987 J Pediatr Surg 13: 389-391, 1978 Hepatology 4: 7S-10S, 1984 J Pediatr Surg 20: 529-534, 1985 ... J Pediatr 100: 399-401, 1982 -antitrypsin deficiency (Pi SZ) and biliary atresia. J Pediatr Gastroenterol Nutr 9: 256-260, 1989 J Pediatr Surg 24: 48-51, 1989 Hum Pathol 14: 512-537, 1983 Arch Dis Child 66: 121-123, 1991 ... J Pediatr Surg 25: 153-162, 1990 Other Causes of Biliary Obstruction Gastroenterology 80: 380-383, 1981 World J Surg 9: 244-249, 1985 Hepatology 4: 678-683, 1984 Ann Surg 191: 626-634, 1980 ... Idiopathic perforation of the biliary tract in infancy . J Pediatr Surg 18: 546-550, 1983. Neonatal Hepatitis Prog Liver Dis 6: 471-485, 1979 Appl Pathol 6: 49-55, 1988 J Pediatr Gastroenterol Nutr 6: 203-207, 1987 -dihydroxy- and 3 -trihydroxy-5-cholenoic acids. J Clin Invest 79: 1021-1038, 1987 Arch Dis Child 52: 360-367, 1977 Arch Dis Child 60: 447-451, 1985 Arch Dis Child 60: 512-516, 1985 ... J Pediatr Gastroenterol Nutr 5: 492-500, 1986 -3-oxosteroid 5 -reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.

46. DBGET Result: OMIM 118450 The possibility of a gene for arteriohepatic dysplasia at this site on chromosome 20 In an 8year-old boy with arteriohepatic dysplasia, Zhang et al. http://www.genome.jp/dbget-bin/www_bget?omim 118450

47. Penn State Faculty Research Expertise Database (FRED) arteriohepatic dysplasia, Dysplasia, Arteriohepatic. AlagilleWatson Syndrome,Cholestasis with Peripheral Pulmonary Stenosis http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D016738

48. PSU Vol 12, 1999 3 Kahn E, Daum F arteriohepatic dysplasia (Alagille s syndrome) a common causeof conjugated hyperbilirubinemia. Ann Clin Lab Sci 14(6)480-6, 1984 http://home.coqui.net/titolugo/PSU12.htm

VOLUME 12, 1999 Volume 12 No 01 JANUARY 1999 Biliary Hypoplasia References 1- Cynamon HA, Powell GK, Isenberg JN, Lobe TE: Support for a conservative approach to mixed intrahepatic and extrahepatic biliary hypoplasia. J Pediatr Surg 22(11):1031-2, 1987 2- Schwartz MZ: An alternate method for intraoperative cholangiography in infants with severe obstructive jaundice. J Pediatr Surg. 20(4): 440-442, 1985 3- Kahn E, Daum F: Arteriohepatic dysplasia (Alagille's syndrome): a common cause of conjugated hyperbilirubinemia. Ann Clin Lab Sci 14(6):480-6, 1984 4- Kahn EI, Daum F, Markowitz J, Aiges HW, Schneider KM, So HB, Altman P, Chandra RS, Silverberg M: Arteriohepatic dysplasia. II. Hepatobiliary morphology. Hepatology 3(1):77-84, 1983 5- Lugo-Vicente HL: Biliary Atresia: An Overview. Bol Asoc Med PR 87(7-9): 147-153, 1995 6- Hoffenberg EJ, Narkewicz MR, Sondheimer JM, Smith DJ, Silverman A, Sokol RJ: Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 127(2):220-4, 1995 Lumbar Hernias References 1- Somuncu S, Bernay F, Rizalar R, Ariturk E, Gunaydin M, Gurses N: Congenital lumbar hernia associated with the lumbocostovertebral syndrome: two cases. Eur J Pediatr Surg. 7(2)122-124, 1997

49. EMedicine - Alagille Syndrome : Article By Ann Scheimann, MD Synonyms and related keywords AS, Alagille s syndrome, AlagilleWatson syndrome,arteriohepatic dysplasia, syndromic bile duct paucity http://www.emedicine.com/ped/topic60.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Gastroenterology Alagille Syndrome Last Updated: June 27, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: AS, Alagille's syndrome, Alagille-Watson syndrome, arteriohepatic dysplasia, syndromic bile duct paucity AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ann Scheimann, MD , Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution Ann Scheimann, MD, is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition Editor(s): Robert Baldassano, MD , Director, Center for Pediatric Inflammatory Bowel Disease, Associate Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia, University of Pennsylvania; Robert Konop, PharmD

50. EMedicine - Alagille Syndrome : Article Excerpt By: Ann Scheimann, MD Synonyms, Key Words, and Related Terms AS, Alagille s syndrome, AlagilleWatsonsyndrome, arteriohepatic dysplasia, syndromic bile duct paucity http://www.emedicine.com/ped/byname/alagille-syndrome.htm

(advertisement) Excerpt from Alagille Syndrome Synonyms, Key Words, and Related Terms: AS, Alagille's syndrome, Alagille-Watson syndrome, arteriohepatic dysplasia, syndromic bile duct paucity Please click here to view the full topic text: Alagille Syndrome Background: Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, kidneys, and characteristic facial appearance. In 1973, Watson and Miller reported 9 cases of neonatal liver disease with familial pulmonary valvular stenosis. Then in 1975, Alagille et al described several patients with hypoplasia of the hepatic ducts with associated features. Pathophysiology: AS is an autosomal dominant disorder with variable expression. Associated abnormalities include those of the liver, heart, eye, skeleton, kidneys, and characteristic facial features. Mild-to-moderate mental retardation also may be present. The syndrome recently has been mapped to the 20p12-jagged-1 locus ( ), encoding a ligand critical to the notch gene signaling cascade importance in fetal development. A minority (6-7%) of patients have complete deletion of the jagged-1 gene, and approximately 15-50% of mutations arise spontaneously. Frequency: In the US: Incidence is approximately 1 in every 100,000 live births.

51. Alagille Syndrome arteriohepatic dysplasia OR ALAGILLE SYNDROME. Alagille first described a Alagille sSyndrome / arteriohepatic dysplasia Right elbow - Xanthomata. http://www.health-nexus.com/alagille_syndrome.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alagille Syndrome Alagille Syndrome Alliance Worldwide support network for people who care about people with alagille syndrome hosted by talkcity. Children's Liver Alliance - Alagille Syndrome Contains intimate stories of this liver disease and its effect on families. Read symptoms, treatments and medical articles. Gastroenterology - Alagille Syndrome Gastroenterology. ARTERIOHEPATIC DYSPLASIA OR ALAGILLE SYNDROME. Alagille first described a syndrome consisting of a paucity of interlobular ... Alagille Syndrome / The Family Village Who to Contact. WebMD/Lycos - Article - Alagille Syndrome With Lycos, WebMD offers a comprehensive online health resource. Whether you want to get information about a medical condition, learn more about leading a healthier lifestyle, or talk to others... Alagille's Syndrome Dept. of Dermatology - University of Iowa College of Medicine. Alagille'sSyndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata. ...

52. Mutations In The Human Jagged1 Gene Are Responsible For Alagille Syndrome - Natu Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2). Am. J. Med.Genet. 35, 532535 (1990). PubMed ISI ChemPort ; Teebi, AS, Murthy, DS, http://www.nature.com/ng/journal/v16/n3/abs/ng0797-235.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0797-235 Mutations in the human gene are responsible for Alagille syndrome Takaya Oda , Abdel G. Elkahloun , Brian L. Pike , Kazuki Okajima , Ian D. Krantz , Anna Genin , David A. Piccoli , Paul S. Meltzer , Nancy B. Spinner , Francis S. Collins Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4442, USA. Laboratory of Cancer Genetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4442, USA. Department of Pediatrics, Nagoya City University, Medical School, Nagoya 467, Japan. Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, USA. Research Genetics Inc., Huntsville, Alabama 35801, USA.

53. Transplantation - Fulltext: Volume 67(3) February 15, 1999 P 416-418 UNSUSPECTED Alagille s syndrome (or arteriohepatic dysplasia) is a congenital disease with Biliary tract abnormalities in patients with arteriohepatic dysplasia. http://www.transplantjournal.com/pt/re/transplantation/fulltext.00007890-1999021

LWWOnline LOGIN eALERTS REGISTER ... Archive UNSUSPECTED BILE DUCT PAUCITY IN... ARTICLE LINKS: Abstract References (6) View full size inline images Transplantation Volume 67(3) 15 February 1999 pp 416-418 UNSUSPECTED BILE DUCT PAUCITY IN DONORS FOR LIVING-RELATED LIVER TRANSPLANTATION: TWO CASE REPORTS Gurkan, Alihan ; Emre, Sukru ; Fishbein, Thomas M. ; Brady, Linda ; Millis, Michael ; Birnbaum, Audrey ; Kim-Schluger, Leona ; Sheiner, Patricia A. Recanati/Miller Transplantation Institute, Mount Sinai Medical Center, New York, New York 10029; and the Departments of Pediatrics and Surgery, University of Chicago Children's Hospital, Chicago, Illinois 60637 Recanati/Miller Transplantation Institute, The Mount Sinai Medical Center. Department of Pediatrics, University of Chicago Children's Hospital. Department of Surgery, University of Chicago Children's Hospital. Address correspondence to: Patricia A. Sheiner, M.D., The Mount Sinai Medical Center, Box 1104, One Gustave L. Levy Place, New York, NY 10029. E-mail: patricia_sheiner@smtplink.mssm.edu. Received 2 June 1998.

54. Transplantation - UserLogin Longterm complications of arteriohepatic dysplasia. Am J Med 1992; 93 171-175 . arteriohepatic dysplasia in infancy and childhood a longitudinal study http://www.transplantjournal.com/pt/re/transplantation/fulltext.00007890-2003062

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55. Journal Of Pediatric Gastroenterology And Nutrition - Fulltext: Volume 29(4) Oct In 1973, Watson and Miller (2) gave the name of arteriohepatic dysplasia to a arteriohepatic dysplasia Phenotypic features and family studies. http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-199910000-00011.htm

56. Journal Of Pediatric Gastroenterology And Nutrition - Fulltext: Volume 38(1) Jan Watson GH, Miller V. arteriohepatic dysplasia Familial pulmonary arterial arteriohepatic dysplasia a benign syndrome of intrahepatic cholestasis with http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200401000-00023.htm

57. Current Opinion In Pediatrics - UserLogin Watson GH, Miller V arteriohepatic dysplasia. Familial pulmonary arterial stenosiswith neonatal liver disease. Arch Dis Child 1973, 48459466. http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-199912000-00015.htm

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58. Karger Publishers with the main signs of arteriohepatic dysplasia (AlagilleWatson Syndrome, (Alagille syndrome or arteriohepatic dysplasia) review of 80 cases. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

59. Vascular Anomalies In Alagille Syndrome: A Significant Cause Of Morbidity And Mo Medline; Watson GH, Miller V. arteriohepatic dysplasia familial pulmonaryarterial stenosis Four generations of arteriohepatic dysplasia. Hepatology. http://ahavj.ahajournals.org/cgi/content/full/circulationaha;01.CIR.0000121361.0

HOME HELP FEEDBACK SUBSCRIPTIONS ... PubMed Citation This Article has been cited by: other online articles Search Medline for articles by: Kamath, B. M. Krantz, I. D. Download to Citation Manager Circulation. Clinical Investigation and Reports Vascular Anomalies in Alagille Syndrome A Significant Cause of Morbidity and Mortality Binita M. Kamath, MBBChir Nancy B. Spinner, PhD Karan M. Emerick, MD Albert E. Chudley, MD Carol Booth, MD David A. Piccoli, MD and Ian D. Krantz, MD Received October 7, 2003; revision received December 10, 2003; accepted January 5, 2004. Abstract TOP Abstract Introduction Methods Results Discussion References Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in . Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to characterize the nature and spectrum of vascular anomalies in AGS.

60. Disclaimer - Electronic Collection Riely CA, Cotlier E, Jensen PS, Klatskin G. arteriohepatic dysplasia a benign Tubulointerstitial nephropathy associated with arteriohepatic dysplasia. http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325

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