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Biomedical subjects

A Nemeth

Publications and source records attributed to A Nemeth.

At least 37 records · Page 2Linked to original sources
PubMed1997

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.

Progressive familial intrahepatic cholestasis (PFIC) is the second most common form of familial intrahepatic cholestasis. The genes for PFIC and for a milder form of the disease, benign recurrent intrahepatic cholestasis (BRIC), were recently mapped to a 19-cM region on chromosome 18q21-q22. The results suggest that PFIC and BRIC are allelic diseases. We have studied 11 Swedish patients from eight families with clinical and biochemical features consistent with PFIC. The families were genotyped for markers D18S69, D18S64, D18S55 and D18S68, spanning the PFIC candidate region. Unexpectedly, the segregation of haplotypes excluded the entire region in three families, and no indications for shared haplotypes were found in the patients of the six remaining families. A four-point linkage analysis of all families excluded linkage from D18S69 to D18S55 (Zmax < -5). Thus, our data strongly suggest the presence of a second, yet unknown, locus for PFIC. The results indicate that great care should be taken when using 18q markers for prenatal diagnosis and genetic counseling for the disease.

Cholestasis, Intrahepatic↗
PubMed1997

Different expression of HLA-DR and ICAM-1 in livers from patients with biliary atresia and Byler's disease.

BACKGROUND/AIMS: Extrahepatic biliary atresia (EHBA) and chronic progressive intra-hepatic cholestasis (Byler's disease) are two distinct disorders of unknown etiology in the neonate, characterized by profound cholestasis. The aim of the present study was to investigate the inflammatory reaction in liver tissue from patients with EHBA and Byler's disease. METHODS: The expression of HLA-DR and ICAM-1 and the number of CD4+, CD8+ and gamma/delta+ T-cells were investigated with immunoperoxidase technique on cryostat sections of liver tissue from patients with EHBA (n=11), Byler's disease (n=7) and (healthy controls (n=5). RESULTS: Only mild inflammation was seen, mainly with CD4+ cells, predominantly in the portal tracts in EHBA and throughout the lobuli in Byler's disease. Neither ICAM-1 nor HLA-DR was present on the bile duct cells or hepatocytes in the control patients. The bile duct cells in all EHBA patients expressed both ICAM-1 and HLA-DR. HLA-DR was expressed on the hepatocytes in five EHBA patients, but ICAM-1 was only found on the hepatocytes in two EHBA patients. In Byler's disease the bile duct cells did not express ICAM-1 or HLA-DR, but the hepatocytes from all Byler patients expressed both ICAM-1 and HLA-DR. CONCLUSIONS: Although neither EHBA nor Byler's disease is characterized by intense inflammatory cell infiltration, an aberrant expression of ICAM-1 and HLA-DR was found in the liver in both patients with EHBA and patients with Byler's disease. The expression of HLA-DR and ICAM-1, was clearly distinct between the two disorders, indicating that it is not merely an unspecific event secondary to cholestasis.

Bile Ducts↗
PubMed1997

Density of gamma/delta+ T cells in the jejunal epithelium of patients with coeliac disease and dermatitis herpetiformis is increased with age.

Increased density of gamma/delta T cell receptor (TCR)+ intraepithelial lymphocytes is the only characteristic in the jejunum of patients with coeliac disease and dermatitis herpetiformis which is not normalized on a gluten-free diet. We explored the age-dependent changes in intraepithelial gamma/delta and alpha/beta TCR+ cells from 137 biopsies from patients with coeliac disease and dermatitis herpetiformis and from controls. Biopsy specimens from 100 patients with coeliac disease and dermatitis herpetiformis and from 37 controls were studied with an immunohistochemical method using MoAbs to T cell receptors and peroxidase staining. An increase in the density of intraepithelial gamma/delta T cells above the mean +2 s.d. of the density in controls was present in 97 of 100 specimens from patients with coeliac disease and dermatitis herpetiformis. The density of gamma/delta+ cells of patients with coeliac disease and dermatitis herpetiformis on a normal gluten-containing diet showed a positive correlation with age (r = 0.45, P < 0.0001). In controls, the density of gamma/delta+ cells remained low throughout the age-range studies, from age 0.6-57 years. In controls, alpha/beta+ cells increased with age (r = 0.57, P < 0.001). The increase in density of intraepithelial lymphocytes with age is in agreement with their thymus-independent character and local proliferation.

Adolescent↗
PubMed1997

Genetic evidence for mother-to-infant transmission of hepatitis G virus.

Mother-to-infant transmission of hepatitis G virus (HGV [or GBV-C]) was studied in sera from 42 mothers at high risk for bloodborne infections and from their 45 infants (3 twin pairs). Seven (17%) of the mothers had HGV RNA in serum by a polymerase chain reaction assay. One of the 8 (12.5%) infants born to HGV-infected mothers became positive for HGV at 3 months of age. He remained HGV-infected throughout the study (42 months), with no signs of liver disease. His twin sister remained HGV-negative despite the presence of serum and salivary HGV in both the mother and the brother. Analysis of HGV sequences from the infected mother and the infected child confirmed a genetic link between the virus of the mother and the infected child. Thus, mother-to-infant transmission of HGV, presumably occurring at partus, may cause persistent HGV viremia.

Amino Acid Sequence↗
PubMed1997

Absence of LKM-1 antibody reactivity in autoimmune and hepatitis-C-related chronic liver disease in Sweden. Swedish Internal Medicine Liver club.

BACKGROUND: Type-2 autoimmune hepatitis is a subgroup of chronic hepatitis characterized by the presence of liver/kidney microsomal autoantibodies type 1 (LKM-1). A frequent association with chronic hepatitis C suggests that hepatitis virus might trigger autoimmune reactivity. LKM-1-positive chronic hepatitis is not uncommon in southern Europe but is rarely seen in the USA and the UK. The prevalence in Scandinavia is hitherto unknown. METHODS: We used an automated prototype LKM-1 immunometry-based assay (IMx) to detect LKM-1 antibodies in sera from 350 Swedish patients with chronic liver diseases (100 with primary biliary cirrhosis, 80 with primary sclerosing cholangitis, 100 with hepatitis C, and 70 patients with various forms of chronic hepatitis, including 36 autoimmune cases), and from 17 children with autoimmune hepatitis. Sera reactive in the IMx assay were subjected to immunofluorescence testing. RESULTS: No clearly LKM-reactive sera were detected. Serum samples from 29 patients were borderline reactive in the IMx assay but tested negative in the confirmatory immunofluorescence test. Positive tests in the former assay were likely caused by reactivity against microsomal antigens other than LKM-1/cytochrome P450IID6. CONCLUSIONS: LKM-1-positive type-2 autoimmune hepatitis is very rare in Sweden. Furthermore, chronic hepatitis C did not trigger this type of autoimmune reactivity in our patients, probably owing to genetic insusceptibility.

Adolescent↗
PubMed1996

Detection of group C rotavirus in infants with extrahepatic biliary atresia.

The purpose of this retrospective study was to examine liver tissue from patients with cholestatic disease for the presence of group C rotavirus RNA. The reverse transcriptase-polymerase chain reaction (PCR) for genes 5 and 6 was used, and the PCR products were subjected to liquid hybridization with a 32P-labeled probe. A second amplification with nested primers was also used. Samples from 32 subjects (20 with biliary atresia or choledochal cyst and 12 controls) were tested. Ten of 20 biliary atresia patients were positive for group C rotavirus RNA; no controls were positive (P < .003). Three of the positive patients were positive for both genes 5 and 6. Six of the 10 had > 1 sample that was positive. These data suggest a possible relationship between group C rotavirus and extrahepatic biliary atresia in the 10 patients in whom virus RNA was detected.

Autoradiography↗
PubMed1996

A pilot study comparing toluidine blue and hematoxylin and eosin staining of basal cell and squamous cell carcinoma during Mohs surgery.

BACKGROUND: Hematoxylin and Eosin (H&E) is the most common stain used for Mohs frozen sections. Toluidine blue (T-blue) is a metachromatic stain that has been frequently utilized for this purpose. OBJECTIVE: To compare the cytologic and stromal staining patterns of each stain for Mohs frozen sections of squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), and to identify the advantages and disadvantages of each technique. RESULTS: T-blue revealed stromal change associated with the presence of BCC and SCC. H&E provided more prominent visibility of individual cell keratinization and necrosis, which are common features seen in SCC. CONCLUSION: We found T-blue to be fast and effective in identifying mucopolysaccharides in stroma associated with basal cell carcinoma. For this reason, T-blue is our preferred stain for BCCs, while H&E can provide greater ease of identification of histologic features of SCCs.

Basal Cell Carcinoma↗
PubMed1996

Vertical transmission of hepatitis C virus infection.

Vertical transmission of hepatitis C virus (HCV) was studied in 58 infants of 55 mothers (3 sets of twins). HCV RNA analyses by the polymerase chain reaction (PCR) and alanine aminotransferase (ALT) were performed on consecutive blood samples from birth to 18 months of age (0, 3, 9 and 18 months). Data on factors possibly influencing mother-to-infant transmission of HCV, such as concomitant human immunodeficiency virus (HIV) and hepatitis B virus infection during pregnancy, maternal HCV RNA status at delivery, mode of delivery, prematurity and breastfeeding habits were collected. In addition, 6 older siblings (age 4-10 years) of the infants were tested once for anti-HCV. Of the 55 mothers 52 (95%) had a history of intravenous drug use (IVDU). Two mothers were HIV positive. 40/54 (75%) tested mothers were HCV RNA positive. 16 (27%) infants were delivered by Caesarean section, and 50 (86%) infants were breastfed. All infants were HCV RNA negative on all occasions and anti-HCV negative at the age of 18 months. Maternally acquired anti-HCV antibodies disappeared and were not detected by 9 months in 78%. One of the 6 older siblings was anti-HCV and HCV RNA positive. We conclude that the risk of vertical HCV transmission is low in infants of HCV-positive/HIV-negative mothers, and that breastfeeding seems to be safe in this group.

Adult↗
PubMed1995

Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II.

cDNA clones for bovine poly(A) binding protein II (PAB II) were isolated. Their sequence predicts a protein of 32.8 kDa, revising earlier estimates of molecular mass. The protein contains one putative RNA-binding domain of the RNP type, an acidic N-terminal and a basic C-terminal domain. Analyses of authentic PAB II were in good agreement with all predictions from the cDNA sequence except that a number of arginine residues appeared to be post-translationally modified. Poly(A) binding protein II expressed in Escherichia coli was active in poly(A) binding and reconstitution of processive polyadenylation, including poly(A) tail length control. The cDNA clones showed a number of potential PAB II binding sites in the 3' untranslated sequence. Bovine poly(A)+RNA contained two mRNAs hybridizing to a PAB II-specific probe. Analysis of a genomic clone revealed six introns in the coding sequence. The revised molecular mass led to a demonstration of PAB II oligomer formation and a reinterpretation of earlier data concerning the protein's binding to poly(A).

Amino Acid Sequence↗
PubMed1995

Studies on lipoprotein metabolism in a family with jejunal chylomicron retention.

We describe two siblings with fat malabsorption and jejunal chylomicron retention. Plasma lipoproteins were studied in the patients and their first-degree relatives. The patients were a 14-year-old girl and her 8-year-old brother. Compared to healthy controls, they both had low fasting plasma concentrations of plasma total, HDL, and LDL cholesterol, as well as of apolipoproteins A-I and B. No increase in plasma lipoprotein levels or detectable apo B-48 was observed following an oral fat load. Histological studies of jejunal biopsy specimens obtained during fasting and 1 h postprandially showed severe steatosis, and an apparent block of chylomicron secretion from the endoplasmic reticulum into the Golgi apparatus was observed by electron microscopy. Liver biopsy specimens showed moderate steatosis and ultrastructural changes similar to those in the enterocytes. One healthy sister had a normal plasma lipoprotein pattern, and showed increased plasma triglyceride levels as well as the presence of apo B-48 following an oral fat load. Both parents had normal plasma total cholesterol levels, but clearly reduced fasting concentrations of HDL cholesterol and apo A-I. At least in this family, determination of plasma apo A-I levels might thus prove useful in the identification of heterozygotes.

Adolescent↗
PubMed1995

Apolipoprotein E and complement C3 polymorphism and their role in the response to gemfibrozil and low fat low cholesterol therapy.

Three different allelic variants of apolipoprotein E determine, in concert with other gene products, the levels of plasma lipoproteins. Recently, cleavage products of the complement C3 molecule have also been implicated in determining plasma triacylglycerol concentrations. This study presents data of an ongoing study to dissect the role of the apolipoprotein E gene locus in the response to low fat/low cholesterol diet combined with gemfibrozil treatment. In addition, for the first time, the significance of C3 allelic variants to such hypolipidaemic therapy response was analysed. To this end data from 81 obese hyperlipoproteinaemic patients (Fredrickson type II/A and B and type IV and V) confirmed the usefulness of the combined gemfibrozil/diet treatment and unveiled apolipoprotein E allele group specific therapy responses. The mean changes of lipid properties due to combined treatment was 15% for total cholesterol, 48% for triacylglycerols and 28% for atherogenic index. Division into hyperlipidaemia types according to Fredrickson and subgrouping into E2, E3 and E4 groups (apolipoprotein E2/2 and 2/3, apolipoprotein E3/3 and apolipoprotein E4/2 and 4/3 phenotype groups respectively) exposed pronounced differences from these mean changes, suggesting substantial influence of apolipoprotein E variants on this therapy. We observed triacylglycerol reductions of from 17% in type IIA-apolipoprotein E3 group patients up to 78% in the type IV and V-apolipoprotein E2 group. Thus it might be concluded the apolipoprotein E genotyping aides therapy success prediction. Although, low sample number in some subgroups obscures significance in this pilot study, significant therapy success emerges for the E3 and E4 group in type IV and V hyperlipidaemia and type IIB-apolipoprotein E3 homozygous patients can be predicted to respond better than apolipoprotein E2 carriers. Finally, we present evidence that positive changes of lipid properties are also determined by the "fast" complement C3 allel (C3-F). Patients with complement factor C3-FS pattern respond better to treatment than patients with C3-SS configuration. In summary these data endorse the genotyping of apolipoprotein E alleles to predict maximal success of "fibrate" treatment. In addition they argue strongly for further assessment of the involvement of complement C3 allelic variations in lipid homeostasis.

Adult↗
PubMed1994

Bile salt sulphotransferase activity in the liver of cholestatic infants.

A simple assay of bile salt sulphotransferase activity in human liver was developed. The system used glycolithocholate and PAPS as substrates. Km values for glycolithocholate and PAPs were 2.8 microM and 11.5 microM, respectively. Furthermore bile salt sulphation capacity in infants with cholestasis was investigated by measuring the activity of the bile salt sulphotransferase in the liver. No significant difference was found between the sulphotransferase activity in cholestatic infants and non-cholestatic adults. In addition the magnitude of the bile salt sulphotransferase activity in as neonatal liver did not differ from the enzymatic activity in adult liver. It is thus considered unlikely that low degree of sulphation of bile salts in infants is due to reduced capacity of this enzyme system.

Adult↗
PubMed1994

Melanoma in a southeastern Hispanic population.

A descriptive analysis was performed of the Tumor Registry data for malignant melanoma in Hispanics ascertained by the Jackson Memorial Hospital (JMH), University of Miami School of Medicine Tumor Registry. A total of 54 cases of melanoma in Hispanics was collected and reviewed. Most of the lesions of melanoma occurred on the trunk, arm, shoulder, leg, and hip. Seventy percent of the Hispanics presented with local stage disease; 26% presented with both regional and distant disease. Local stage had the best 5-year survival (87%). In regional and distant disease combined, the survival was better for Hispanics than non-Hispanics (p = 0.01). In addition, it was found that the Hispanics in the over 50-year-old age group did better than the non-Hispanics in the same group (p = 0.05). Comparison of survival between Hispanic males and females shows that Hispanic females have a 5-year survival of 86% compared to 56% for Hispanic males (p = 0.017).

Abdomen↗