نتایج جستجو برای: congenital fibrosis
تعداد نتایج: 227980 فیلتر نتایج به سال:
Caroli’s disease is a rare congenital disorder characterized by multiple segmental cystic dilatations of the intra-hepatic bile ducts that are related to each other. Caroli’s syndrome is more common and associated with hepatic fibrosis and renal cystic disease. This paper introduces a three year old boy with Caroli’s disease and medullary nephrocalcinosis presented with fever, abdominal pain,...
Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including ...
Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from m...
Introduction: Caroli disease is a rare congenital disorder characterized by segmental, nonob-structive dilatation of intrahepatic bile ducts. The term Caroli syndrome is used for the asso-ciation of Caroli disease with congenital hepatic fibrosis. Case Report: A 37 year old woman, a diagnosed case of Caroli syndrome, was admitted to hospital because of fever, cough and sputum. During the clinic...
WE would like to report the occurrence of congenital paunch calf syndrome in Ireland. This is a homozygous recessive condition in the Romagnola breed that causes congenital deformities as described by Gentile and others (2004). Carrier animals appear normal. A full-term stillborn purebred Romagnola calf examined at Kilkenny Regional Veterinary Laboratory had severe abdominal distension (hence t...
Inpatient health care use among adult survivors of chronic childhood illnesses in the United States.
OBJECTIVES To describe the inpatient length of stay and related charges for adults in the United States with childhood-onset chronic disease and to examine patterns with respect to different hospital settings. DESIGN We analyzed data from the 2002 Nationwide Inpatient Sample, a nationally representative data set of hospital discharges. We performed a case-mix-adjusted, sample-weighted regress...
Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...
We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...
Sternocleidomastoid muscle fibrosis has been recognized for centuries, but its pathogenesis and treatment remains controversial. Pseudotumor of infancy is a firm fibrous mass in the sternocleidomastoid muscle appearing at 2 to 3 weeks of age. Congenital muscular torticollis is less common and appears later in life. Pseudotumor and congenital muscular torticollis probably represent different man...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید