Cholestasis ; diagnosis ; Chronic Disease ; Diagnosis, Differential ; Humans ; Infant ; Jaundice, Obstructive ; diagnosis ; Male

Autoimmune Diseases ; diagnosis ; immunology ; pathology ; therapy ; Child ; China ; Gastroenterology ; Hepatitis B ; diagnosis ; pathology ; therapy ; Humans ; Infant

Alagille Syndrome ; pathology ; Child, Preschool ; China ; Female ; Humans ; Infant ; Male

ABCB11 gene encodes bile salt export pump (BSEP).It is almost exclusively expressed in the canalicular microvilli of liver.It is the principal conveyor of bile acids from hepatocyte cytoplasm into bile canaliculus.It is clearly that BSEP defects can induce progressive familial intrahepatic cholestasis type 2 and benign recurrent intrahepatic cholestasis type 2.ABCB11 gene variation are also responsible for intrahepatic cholestasis of pregnancy,drug-induced cholestasis,primary sclerosis cholangitis and primary bile cirrhosis.This paper reviewed the association of ABCB11 gene variation and these diseases.

Animals ; Free Radicals ; metabolism ; Hepatocytes ; metabolism ; Male ; Obesity ; metabolism ; Polyphenols ; pharmacology ; Rats ; Rats, Sprague-Dawley ; Tea ; chemistry

10 mU/L (GroupⅡ,71 cases) when they were one year old.There were 40 healthy children in control group. The genomic DNA from the peripheral blood was extracted and polymerase chain reaction (PCR) and sequencing were employed to detect the IL-12B gene 3′UTR+1188 SNP.Results The frequency of AA,AC and CC genotype in GroupⅠwere 25.7%,44.3% and 30.0% respectively,and 36.6%, 47.9% and 15.5% in GroupⅡ,48.8%,39.0%,12.2%,in control group,respectively.The differ- ence of frequency of CC genotype and non-CC genotype between GroupⅠand GroupⅡwas significant (x~2=17.078,P

Objective To investigate the prevalence of herpes simplex virus(HSV) infection of central nervous system(CNS) in newborn infant,and analyze its clinical characteristics.Methods Cerebrospinal fluid(CSF) was collected from 40 acute viral infection of central nervous system who were hospitalized during June 2001 to June 2002.Polymerse chain reacton techniques(nested-PCR)was used to detect HSVspecific DNA in CSF,enzyme-linked immunosorbert assays(ELISA)was applied to detect HSV-specific IgM and IgG antibody in CSF and serum specimens.Results Two cases of neonatal patients were HSV-1 DNA PCR positive in CSF,both(mo)-ther were normal during pregnancy without a history of genital herpes.Clinical presentations of one case belonged to disseminated HSV infections and the other was limited to CNS infections.HSV-2 DNA PCR of 40 cases of neonatal patients were negative in CSF.Conclusions The rate of HSV neonatal CNS infection was 5% among viral neonatal CNS infections.HSV type 1 in the period,which showed that HSV type 1 may be the common type of HSV neonatal CNS infections.The result seems to be related to low prevalence for HSV-2(among) pregnancy women in China.

OBJECTIVETo review the clinical features and liver pathology in children with hepatolenticular degeneration.

METHODSClinical manifestations and results of lab tests and liver biopsies of 97 cases diagnosed as hepatolenticular degeneration in Children's Hospital of Fudan University from Jan 1990 to Nov 2006 were reviewed.

RESULTSManifestations of liver malfunction were the most common reason (74%) for their clinic visits. All cases showed liver involvement and nervous system involvement was found in 45%. Positive K-F rings were detected in 63 of 95 cases; ceruloplasmin level was low in 91 of the 94 cases, and 24 hour urinary copper excretion exceeded 100 microg in 25 out of 37 cases who had had this test. Seventeen cases had a liver biopsy. Various levels of inflammation and fibrosis were noted in all 17 biopsies; 8 of the 17 also had steatosis and 3 of the 17 also had glycogen accumulation.

CONCLUSIONLiver abnormality is a consistent feature in children with hepatolenticular degeneration. Corneal K-F rings, serum ceruloplasmin and the 24-hour urinary copper test have limited values for an early diagnosis of the disease. Liver pathology can be a reference in the diagnosis of hepatolenticular degeneration.

Adolescent ; Child ; Child, Preschool ; Female ; Hepatolenticular Degeneration ; diagnosis ; pathology ; Humans ; Liver ; pathology ; Male ; Retrospective Studies