Biomedical subjects

Anikó Folhoffer

Publications and source records attributed to Anikó Folhoffer.

8 recordsLinked to original sources

PubMed2006

[Xanthomatosis and extreme hypercholesterolemia after laparoscopic cholecystectomy. Total reversibility following surgical treatment of iatrogenous stenosis of the common bile duct].

INTRODUCTION: Hypercholesterolemia and xanthomatosis are known complications of chronic cholestasis. This is the first report on xanthomatosis and severe hypercholesterolemia caused by common bile duct stenosis following laparoscopic cholecystectomy. CASE REPORT: Laparoscopic cholecystectomy was performed in a 32-year old woman because of numerous tiny gallstones. Bile leakage was observed in the early postoperative period which stopped spontaneously. Six months later itching, progressively increasing serum bilirubin level, cholestasis syndrome, xanthelasma and widespread eruptive xanthomatosis developed in a few months. The cholesterol level was extremely high (92.3 mmol/l), while the triglyceride level was normal. Though the ultrasound and the cholangio-MR did not showed any dilatation of bile ducts, the ERCP verified a 2 mm long, hair's-breadth thin stenosis of choledochus in the level of cystic duct. Primary biliary cirrhosis and primary sclerosing cholangitis were excluded, no evidence for familial hypercholesterolemia was found. Choledochojejunostomy was performed and the patient became complaint- and symptom-free within two months. All xanthomas disappeared, the extremely high cholesterol level gradually decreased to the normal level, and all the laboratory data became normal. The anticholesterol antibody level was undetectable at presentation, but later reached the level of the healthy controls. CONCLUSION: The presented case is an example for laparoscopic cholecystectomy caused bile duct stenosis and for extra-hepatic cholestasis induced xanthomatosis and severe hypercholesterolemia. The bile leakage as early complication of bile duct damage may predict the later developed stenosis. Even severe xanthomatosis and extreme hypercholesterolemia can be totally reversible following elimination of biliary obstacle.

Adult↗

PubMed2006

Myocardial infarction is associated with Spl binding site polymorphism of collagen type 1A1 gene.

OBJECTIVE: Human atherosclerotic lesions contain collagen type I, which plays a pivotal role in atherosclerotic plaque stability. In contrast, the normal coronary arteries do not express this type of collagen. Data have shown that the collagen type 1A1 (COL1A1) gene Sp1 binding site (-1245 G/T) polymorphism is associated with disturbed collagen protein production. METHODS: In our study, COL1A1 gene Sp1 polymorphism was investigated in 136 patients with myocardial infarction (MI) 5 months after the acute phase, and 212 age-matched control subjects in association with any cardiovascular risk factors (such as serum adiponectin levels, hyperinsulinaemic status, hyperlipaemia). RESULTS: The "SS" genotype of the COL1A1 gene was found to occur significantly more frequently in patients surviving a MI, as compared to the control group and the "Ss" and "ss" genotype frequencies (the presence of the s allele) were lower in our patients, than in control group. However, the occurrence of cardiovascular risk factors was significantly higher among the "s" allelic carriers as compared to patients carrying the "S" allele of the COL1A1 gene. CONCLUSION: Our results raise the possibility that COL1A1 gene Sp1 polymorphism might have an impact on the development of MI.

Adiponectin↗

PubMed2005

Bone disorders in experimentally induced liver disease in growing rats.

AIM: To investigate the change of bone parameters in a new model of experimentally induced liver cirrhosis and hepatocellular carcinoma (HCC) in growing rats. METHODS: Fischer-344 rats (n = 55) were used. Carbon tetrachloride (CCl(4)), phenobarbital (PB), and a single diethylnitrosamine (DEN) injection were used. Animals were killed at wk 8 and 16. Bone mineral content, femoral length, cortical index (quotient of cortical thickness and whole diameter) and ultimate bending load (F(max)) of the femora were determined. The results in animals treated with DEN+PB+CCl(4) (DPC, n = 21) were compared to those in untreated animals (UNT, n = 14) and in control group treated only with DEN+PB (DP, n = 20). RESULTS: Fatty liver and cirrhosis developed in each DPC-treated rat at wk 8 and HCC was presented at wk 16. No skeletal changes were found in this group at wk 8, but each parameter was lower (P<0.05 for each) at wk 16 in comparison to the control group. Neither fatty liver nor cirrhosis was observed in DP-treated animals at any time point. Femoral length and F(max) values were higher (P<0.05 for both) in DP-treated animals at wk 8 compared to the UNT controls. However, no difference was found at wk 16. CONCLUSION: Experimental liver cirrhosis and HCC are accompanied with inhibited skeletal growth, reduced bone mass, and decreased mechanical resistance in growing rats. Our results are in concordance with the data of other studies using different animal models. A novel finding is the transiently accelerated skeletal growth and bone strength after a 8-wk long phenobarbital treatment following diethylnitrosamine injection.

Animals↗

PubMed2004

[Wilson disease].

Wilson disease is an autosomal, recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion of hepatocytes. Recently, novel components involved in copper metabolism, Wilson disease protein (ATP7B) and copper chaperones, have been identified. It has been demonstrated that ATP7B functions in copper secretion into the plasma, coupled with coeruloplasmin synthesis and biliary copper excretion. Genetic testing may help early diagnosis and with the beginning of therapy the development of symptoms can be prevented. Various mutations of ATP7B have been identified, the most common is in Hungary, the H1069Q mutation. Genetic screening should only be advised if there is a predominant mutation characteristic for the geographic area. The authors discuss the modern diagnostic and therapeutic possibilities of Wilson disease.

Adenosine Triphosphatases↗

PubMed2004

[Combined antiviral treatment in a patient with recurrent chronic hepatitis C after liver transplantation].

BACKGROUND: Hepatitis C virus infection persists after liver transplantation and causes recurrent liver injury in the majority of the patients. We report a case of orthotopic liver transplantation with more than five years survival despite the early recurrence of hepatitis C virus. CASE REPORT: A 49-year old woman underwent orthotopic liver transplantation because of liver cirrhosis following chronic hepatitis C virus infection. Twelve years before she received blood-transfusion. The chronic liver disease was diagnosed four years later. However, then it was thought to be a drug induced liver damage. After the liver transplantation hepatitis C chronic hepatitis recurred within one year. The serotype analysis (1b) proved the autoreinfection. The combined antiviral treatment (interferon plus ribavirin) resulted significant improvement. She was asymptomatic nearly for two years. The liver biopsy showed a significant histological improvement. However the virologic response and remission was transient. Four years after the transplantation recurrence occurred again. The liver biopsy proved cirrhosis. Antiviral therapy with pegylated interferon plus ribavirin was started but it had been stopped because of severe cytopenia. Lack of adequate antiviral treatment her condition became progressively worse. Finally, five years after the transplantation she died because of bilateral haemorrhagic ovarian necrosis and severe circulatory insufficiency thanks to the low albumin level. CONCLUSIONS: In the case of liver cirrhosis caused by hepatitis C virus the liver transplantation could prolongs the life with years. The presented case illustrate that the hepatitis C virus injures the transplanted liver by autoreinfection. However, the combined antiviral therapy could result sustained virologic response in these cases as well. Our patient survived five years thanks to the transplantation and the following antiviral therapy.

Adult↗

PubMed2004

[Decreased bone mineral density and gene polymorphism in primary biliary cirrhosis].

UNLABELLED: Genetic factors have been implicated in the pathogenesis of osteoporosis, which is a common disorder in primary biliary cirrhosis (PBC). Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies and collagen type I alpha 1 (COLIA1) SP1 "s" allele was associated with lower bone mineral density (BMD) in PBC. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and BMD in Hungarian PBC patients. PATIENTS AND METHODS: 70 female patients with PBC were enrolled (mean age: 57.6 yrs, range: 37-76 yrs, each AMA M2 positive, stage II-IV). 139 age-matched female subjects served as controls (mean age: 55.9 yrs, range: 43-72 yrs). COLIA1 and IGF-I microsatellite repeat polymorphisms were determined by PCR. Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry (Lunar, Prodigy, WI, USA) in lumbar spine (LS) and femoral neck (FN). RESULTS: The IGF-I polymorphism was not different between PBC patients (192/192 = 34.2%, 194/192 = 28.6%, other = 37.2%) and controls (192/192 = 38.2%, 194/192 = 30.9%, other = 30.9%). The genotype frequency of COLIA1 polymorphism was also not different between PBC patients (SS = 72.9%, Ss = 22.8% and ss = 4.3%) and controls (SS = 58.4%, Ss = 35.9% and ss = 5.7%), however the "s" allele was significantly less frequent in patients with PBC (p = 0.038). Osteoporosis was present in 22 patients (31.4%). The IGF-I 192/192 allele was associated with higher FN Z-score compared to other genotypes (p = 0.036). CONCLUSIONS: In contrast to previous studies the "s" allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.

Adult↗

PubMed2003

[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].

ATP7B gene mutations were examined in 70 Wilson patients from Hungary. 11 different mutations were found. In Hungary, similarly to other Central-Eastern European countries, the H1069Q was the most the frequent mutation, detected in 51 patients (73%) by semi-nested polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) assay. 10 further mutations have been found by sequencing as follows: P767P-fs, R778G, K844K-fs, I857T, R969Q, T977M, E1064K, M769L, Y715H and P1273S. These latter three mutations have not been described before. Among the 11 mutations there are five, which have been published only in patients of Turkish, Italian or Albanian origin. It might be the genetic consequence of the 150 years long occupation of Hungary in the 16th and 17th century by Turks. The genotype-phenotype analysis showed that the Kayser-Fleischer ring was more frequent (10/12 = 83%), and the age at the diagnosis was higher in H1069Q homozygous patients than in compound heterozygous or negative patients. Diverse clinical presentation of the disease was demonstrated by case reports giving messages for the practitioners. The gene mutation analysis is of particular importance in siblings of the index patient, since the detection of two mutant allels confirm the diagnosis of the disease even in absence of symptoms. The clinical manifestation of the disease can be preceded by the treatment.

Adenosine Triphosphatases↗

PubMed2003

[Pathogenesis and treatment of Wilson's disease].

Authors review the pathogenesis, symptoms and diagnosis of Wilson's disease. Wilson's disease or hepatolenticular degeneration is an autosomal recessive disorder. It is caused by defective hepatic excretion of copper. The disease is fatal without treatment. The prevention of severe permanent damage depends upon early recognition and diagnosis followed by appropriate lifelong anticopper treatment. The purpose of the therapy of Wilson's disease is to eliminate the copper by chelators (D-penicillamine, triethylene tetramine, ammonium tetrathiomolibdate) and to inhibit the absorption and accumulation of copper by zinc salts (zinc sulphate, zinc acetate, zinc gluconate).

Chelating Agents↗