INABIS '98 - The Coloboma Mouse Mutation As An Animal Model Of ADHD 1 on mouse chromosome 2. Interestingly, the semidominant herited human disorder Alagille'ssyndrome, characterized by arteriohepatic dysplasia, cardiac, ocular http://www.mcmaster.ca/inabis98/sadile/wilson0247/two.html
Extractions: Results The Coloboma Mutant Mouse Coloboma mutant mice display a variety of behavioral, neurophysiological and developmental deficits, of which a subset may be compared with those presented by ADHD children. Although the Cm mutation is early embryonic lethal when homozygous (9), adult heterozygote mice (genotype, Cm The coloboma mutation is a chromosomal deletion that arose from neutron irradiation mutagenesis. Although neutron irradiation generally causes substantial chromosomal deletion and rearrangement, no chromosomal abnormality can be distinguished for the Cm locus at the cytological level (14). Initial mapping experiments placed the Cm locus on mouse chromosome 2 (15). Our more recent studies evaluating the inclusion of genetically mapped polymorphic simple sequence repeats and local gene sequences in an interspecies cross showed that the deletion spans 1-2 cM, comparable to 1-2 x 106 base pairs, towards the distal end of Ch2 (16). While a deletion of this sized segment of genomic DNA may comprise more than 30 genes, currently only four known genes (encoding phospholipase beta 1, and 4, jagged and SNAP-25 proteins) have been identified within the mutation (16, and M.C.W. unpublished data). The suggestion that a significant number of genes may be affected by the
UTL. About The Libraries. AV septal defect, see atrioventricular septal defect. AV valve, see atrio-ventricularvalve. arteriohepatic dysplasia, syn. Alagille syndrome. http://www.achd-library.com/nevil_thomas/consensus/app_6.htm
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Alagille Syndrome Today Riely CA, Cotlier E, Jensen PS, Klatskin G. arteriohepatic dysplasia a benignsyndrome of intrahepatic cholestasis with multiple organ involvement. http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325
Extractions: Daniel Alagille, MD Clin Invest Med Paper reprints may be obtained from: Dr. Daniel Alagille, 75 Denfert-Rochereau, 75014 Paris, France; fax 33 1 43 54-2590 A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, peculiar facies; chronic cholestasis; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformations. In the complete form of the syndrome, all five features are observed. Four or less of these characteristics are present in the incomplete or partial forms of this syndrome. Other, less frequent characteristics (growth retardation, mental retardation, renal and bone abnormalities as well as a high-pitched voice) have also been observed. An autosomal dominant mode of genetic transmission with variable penetrance seems likely. Therapy consists of nutritional supplementation of medium-chain triglycerides, essential fatty acids and fat-soluble vitamins. Liver transplantation has been used successfully to treat patients with liver failure, portal hypertension or severe pruritus and xanthomatosis. Table of contents This syndrome, characterized by the association of five major groups of features, was gradually identified over 15 years. In 1965 Smith, Optiz and Inhorn1 described intrahepatic biliary dysgenesis associated with polycystic kidneys and cardiac anomalies. In 1969 I and my colleagues Habib and Thomasin[2] reported 25 cases of intrahepatic biliary hypoplasia and cardiac and vertebral malformations associated with a peculiar facies. The syndrome was better defined in 1975,[3] and the view that it is a specific entity was further strengthened by the description of posterior embryotoxon in 1979 by Riely and associates.[4]
Birth Disorder Information Directory - A Al gazali sabrinathan nair syndrome. Alagille (Watson) Syndrome (ArteriohepaticDysplasia, Hepatofacioneurocardiovertebral Syndrome, Watson Miller Syndrome) http://www.bdid.com/defectag.htm
Extractions: HOME Aganglionosis Aganthia Agammaglobulinemia Agenesis of the Cerebellar Vermis Agenesis of the Corpus Callosum Aglossia Adactylia (Oromandibular Limb Hypoplasia) Agnathia Agyria-Pachygyria Aicardi Syndrome Aicardi-Goutieres Syndrome (Encephalopathy-Basal Ganglia Calcification) Aksu Stockhausen Syndrome (Branchial Arch Defects) Al-Awadi Farag Teebi Syndrome (Primary Hypogonadism with Partial Alopecia) Al awadi farag teebi syndrome HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA
Alagille Syndrome New Register, Dr Ira Shah MD, DCH(Gold Medalist), FCPS, DNB Key words Arteriohepaticdysplasia , chronic cholestasis, pulmonary artery hypoplasia. http://www.pediatriconcall.com/fordoctor/CaseReports/alagille_syndrome.asp
Extractions: 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.
Radiology In Ped Emerg Med, Vol 6, Case 5 What bony abnormality is present? Teaching Points 1) Alagille syndrome (arteriohepaticdysplasia) is characterized by a paucity of intrahepatic bile ducts. http://www.hawaii.edu/medicine/pediatrics/pemxray/v6c05.html
Extractions: The radiograph demonstrates a healing right radial midshaft fracture. Also noted are multiple lytic lesions with cortical scalloping along the metaphysis and diaphysis of the forearm bones with generalized severe demineralization. A long bone survey is obtained. View his lower extremity radiographs. View femur radiographs. View tibia radiographs. Return to Radiology Cases In Ped Emerg Med Case Selection Page
Alagilles Syndrom - Små Och Mindre Kända Handikappgrupper Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepaticdysplasia) review of 80 cases. J Pediatr 1987; 110 195200. http://www.sos.se/smkh/1998-29-079/1998-29-079.HTM
Extractions: Version: 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Alagilles syndrom orsakas vanligtvis av en nymutation Praktiska tips Resurspersoner Professor Antal Nemeth, Barnmedicinska kliniken, Huddinge Universitetssjukhus, 141 86 Stockholm, tel 08-585 800 00.
Zangger Halvorsen RA Jr; Garrity S; Kuni C; du Cret RP; Letourneau JG; Bloomer J Arteriohepaticdysplasia (Alagille's syndrome) unusual hepatic architecture and http://radiologie-dijon.chez.tiscali.fr/Biblio/Halvorsen.htm
MUMS List Of Disorders - A Syndrome (1); ArnoldChiari Syndrome w/Spina Bifida (22) *; ArteriohepaticDysplasia (AHD) (Alagille Syndrome) (12) *; Arteriosclerosis (3 http://www.netnet.net/mums/mum_a.htm
Extractions: indicates there is a support group which covers that diagnosis. 2 Hydroxic Gluteric Urea (1) 2 Keto Adepic Aciduria (1) 3 Hydroxy 3-Methylglutaryl CoAlyase Deficiency (HMG) (1) * 3 Methycrotonyl CoA Carboxylase Deficiency (3MCCC) (1) 3 Methylglutaconic Aciduria (4) 4 Hydroxybutyric Aciduria (1) 5 Alpha Reductase Deficiency (1) * 5 Oxoprolinuria (Pyroglutamic Aciduria) (1) 18 Hydroxylase Deficiency (Adrenal Hyperplasia) (1) 21 Hydroxylase Deficiency (Adrenal Hyperplasia) (18) ** ACTH Deficiency (1) AIDS (Acquired Immune Deficiency Syndrome) (6) ** Aarskog Syndrome (8) ** Abdominal Chylous Ascites (abdomen fills w/fluid) (4) Abdominal Migraines (2) Abdominal Teratoma Tumor (5) Abetalipoproteinemia (4) * Abetalipoproteinemia (Bassen-Kornzweig Syndrome) (1) * Absence of Arm Below Elbow, Congenital (25) * Absence of Arms (Severed in accident) (2) * Absence of Arms, Hands attached to shoulder (1) * Absence of Extensor Tendons in hands - bilateral (1) * Absence of Feet and Hands, Congenital (2) *
HealthCentral.com HealthCentral, SEARCH FOR TOPIC CENTERS Choose a topic. http://www.healthcentral.com/library/library.cfm
Extractions: Join a Community SEARCH FOR: TOPIC CENTERS Choose a topic Acupuncture/Chinese Medicine Alcohol Allergies Alzheimer's Andro Anemia Arthritis Asthma Baby and Toddler Health Back Care Bodywork and Mind/Body Breast Cancer Caffeine Cancer Overview Caregiving Chemotherapy Children's Health Cholesterol Circumcision Colds and Flus Colon Cancer Computer-Related Disorders Cosmetic Surgery Death and Dying Dental Depression Diabetes Diet Drugs Digestion Disabilities Divorce Drugs and Medications Eating Disorders Environmental/Occupational Erectile Dysfunction Eye and Vision Fitness Food Safety Genetic Research Getting the Most from Your Provider Headaches and Migraines Health Information Online Health Insurance Hearing Heart and Circulation Hepatitis Herbs Herpes High Blood Pressure HIV and AIDS HMO's and Managed Care Home Remedies Hyperactivity and ADD Immunizations/Vaccines Impotence Infertility Internet Hoax Watch Legislation and Healthcare Policy Leukemia Lung Cancer Medical Breakthroughs Medical Expenses Medical Humor Medical Marijuana Men's Health Menopause Mental Health Multiple Sclerosis Nutraceuticals Nutrition and Healthy Eating Osteoporosis Other Alternative Practices Pain Management Parenting Parkinson's Pet Health Pregnancy and Childbirth Prostate Cancer Prostate Disorders Reduce Stress Safety and First Aid Senior Health Sex and Relationships Sexual Health Skin and Hair Sleep Disorders Smoking Spirituality St. John's Wort
Extractions: Pediatric Database (PEDBASE) Discipline: APP Last Updated: 5/18/94 A disorder caused by an excess of unconjugated or conjugated bilirubin in the newborn period. risk factors: 1. Hemolytic Diseases Extrinsic 2. Infection 3. Extravesated 4. Enterohepatic Circulation Increase 5. Polycythemia 1. Crigler-Najjar Syndrome - I 2. Gilbert Syndrome 3. Lucy-Driscoll Syndrome 4. Breast Milk Jaundice 1. Persistent 2. Acquired
Untitled Document The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://radiol-03.hospital.okayama-u.ac.jp/case/NMED/13/ans13.htm
New Page 0 a. Paucity of interlobular bile ducts. (1) Syndromic. Alagille syndrome (arteriohepaticdysplasia) consists of hypoplastic intrahepatic bile ducts, chron. http://www.bol.ucla.edu/~ofattal/neonatalcholestasis.htm
Extractions: 2. The newborn is particularly susceptible because of immature hepatobiliary function, with decrease in bile acid pool size, rate of synthesis, intraluminal concentration, and ileal uptake. Consequently, intraluminal fat digestion is impaired, and cholestatic effects of various endogenous and exogenous substances are enhanced. B. Clinical syndromes (Box 19-3). Neonatal cholestasis occurs in 1:2500 births, with extrahepatic obstruction accounting for half of the cases. Neonatal hepatitis, biliary atresia and at-antitrypsin deficiency are the three most common causes, with an approximate incidence of 1:5000, 1:10,000, and 1:20,000, respectively.
Full Time Faculty Pulido LaBrecque DR. Ophthalmic features of Alagille syndrome (arteriohepaticdysplasia). J Pediatr Ophthalmol Strabismus 30130135, 1993. http://www.uic.edu/com/eye/department/facultypages/Full Time Faculty/Pulido.html
