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Hypertension and nephrology

SEPTEMBER 20, 2015

[Effect of angiotensin-converting enzyme gene insertion/deletion polymorphism on survival of hemodialyzed patients]

KISS István, SZEGEDI János, KULCSÁR Imre, AMBRUS Csaba, KERKOVITS Lóránt, TISLÉR András, KISS József Zoltán

[Introduction: There are inconsistent observations regarding the earlier studies of the connection between ACE gene I/D polymorphism and the cardiovascular mortality. In the case of hemodialyzed patients suffering from chronic kidney disease the DD polymorphism connected to the elevated ACE levels was pointed out to be connected to the mortality rate primarily in patients with diabetes. The previous observations were verified by us during the analyzation of the short-term (three year period) survival data. We hypothesized that the significance of the ACE gene I / D polymorphism in chronic kidney disease would be verified and that during long-term observations (10 year period) the previous results could be validated. Method: In our non-invasive, prospective and multicentre study clinical data was collected from 746 patients whose blood samples were genotyped for ACE gene I/D single nucleotide polymorphism. Three genotype groups (I/I, I/D és D/D) were created during the analyzation of the mortality that was done using multivariate Cox proportional hazard models. Results: The mean age of the HD patients was 54.9 years, 46,8% of all patients were female. The prevalence of diabetes was 19.3%. ACE inhibitor therapy was prescribed for 47.9% of all patients. The median duration of dialysis before the start of the study was 23.8 months (IQR 11.2-47.1). The most frequent genotype was I/D (42.6%), followed by D/D (37.7%) and I/I (19.7%) genotypes. During the ten year follow- up of patients, the median follow-up was 29.8 months (IQR 12.6-63.4). The D/D genotypes showed lower survivability (I/I vs. D/D: log-rank test: p=0.04) from the group of patients without ACE inhibitor therapy. In multivarite Cox regression models D/D genotype compared with I/I genotype only showed that it significantly determines mortality in patients with no ACE inhibitor therapy (HR 0.67, 95% CI 0.46-0.97, p=0.03). Conclusions: There was no difference in survival among unselected patients with different genotypes. Our data suggests that hemodialyzed patients with the D/D genotype might have inferior outcome, and ACE inhibitor therapy may be associated with improved survival in this subgroup.]

Clinical Neuroscience

MARCH 25, 2015

[Lack of associations between CLU and PICALM gene polymorphisms and Alzheimer’s disease in a Turkish population]

SEN Aysu, ARSLAN Mehtap, ERDAL Emin Mehmet, AY Izci Ozlem, YILMAZ Gorucu Senay, KURT Erhan, ARPACI Baki

[Background and purpose - To investigate the association between the rs11136000 single nucleotide polymorphism (SNP) of the clusterin (CLU) gene, the rs541458 and rs3851179 SNPs of the phosphatidylinositol-binding clathrin assembly protein (PICALM) gene and Alzheimer’s disease (AD) in a Turkish population, and to determine whether there are any relationships between the CLU and the PICALM genotypes and behavioral and psychological symptoms of dementia (BPSD) in the Turkish population. Methods - One-hundred and twelve AD patients and 106 controls were included in this study. BPSD were evaluated by the Behavioral Pathology in Alzheimer’s Disease Rating Scale (BEHAVE-AD). SNPs in the CLU and the PICALM gene were genotyped by Real-Time PCR. Genotype distributions were assessed for the groups of patients and controls, for the patient groups with and without each BPSD, and “No BPSD” and “BPSD”. Results - The CLU and the PICALM genotypes were similar in the AD and control subjects, and the groups with and without each BPSD. There were also no significant differences between the “No BPSD” and the “BPSD” groups for the PICALM genotypes, but even without a statistical significance, it is notable that none of the “No BPSD” patients had genotype pattern CLU-rs11136000-TT, and the female subjects with genotype pattern CLU-rs11136000-TT had higher mean score of BEHAVE-AD. Conclusion - This study claims that investigated SNPs are not genetic risk factors for AD in a Turkish population. In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but the rs11136000 of CLU SNP might be related to development of BPSD in AD female Turkish subpopulation.]

LAM Extra for General Practicioners

JUNE 10, 2014

[Epidemilogy of hepatitis C virus and possibilities of transmission]

HAGYMÁSI Krisztina, LENGYEL Gabriella

[The medical impact of hepatitis C (HCV) is significant worldwide. The main consequences are chronic hepatic injury, cirrhosis, and hepatocellular carcinoma formation. The estimated global prevalence is 3% with 180 million infected people worldwide. The prevalence <1% in Hungary. The prevalence increased between 1990 and 2005 in East Asia, Western Europe, and West sub-Saharan Africa. There is characteristic geographical distribution of the main HCV genotypes. The mode of transmission can not be identified of 40% of cases. The most frequent transmission is the intravénás drug injection in the developed countries, and unsafe health procedures in developing countries. The sensitive, nucleic acid amplification testing, identification of high-risk groups, development of vaccination would help the HCV prevalence in the future. ]

Lege Artis Medicinae

JUNE 20, 2014

[Epidemilogy of hepatitis C virus and possibilities of transmission]

HAGYMÁSI Krisztina, LENGYEL Gabriella

[The medical impact of hepatitis C (HCV) is significant worldwide. The main consequences are chronic hepatic injury, cirrhosis, and hepatocellular carcinoma formation. The estimated global prevalence is 3% with 180 million infected people worldwide. The prevalence <1% in Hungary. The prevalence increased between 1990 and 2005 in East Asia, Western Europe, and West sub-Saharan Africa. There is characteristic geographical distribution of the main HCV genotypes. The mode of transmission can not be identified of 40% of cases. The most frequent transmission is the intravénás drug injection in the developed countries, and unsafe health procedures in developing countries. The sensitive, nucleic acid amplification testing, identification of high-risk groups, development of vaccination would help the HCV prevalence in the future. ]

Lege Artis Medicinae

NOVEMBER 20, 2007

[OUR EXPERIENCE WITH COMBINED ANTIVIRAL TREATMENT IN PATIENTS WITH CHRONIC HEPATITIS C WITH PERSISTENTLY NORMAL ALANINE AMINOTRANSFERASE LEVELS]

HORVÁTH Gábor, TOLVAJ Gyula, HALÁSZ Tünde, STOTZ Gyula

[INTRODUCTION - Persistently normal alanine aminotransferase levels, which occur in a fraction of patients chronically infected with hepatitis C virus, do not rule out the presence of chronic hepatitis C, even of that with advanced inflammation and fibrosis. Here we report our results of the treatment of these patients. PATIENTS AND METHODS - Patients with histologically confirmed chronic hepatitis C received combined antiviral treatment with pegylated interferon (alfa-2a 1×180 μg/week or alfa-2b 1×1.5 μg/kg/week) and ribavirin (800- 1200 mg/day) for 48-52 weeks. The alanineaminotransferase levels of 21 patients (14 females, 7 males, age: 20-54, mean 38 years) did not reach the upper limit of normal (40 U/l) during the period of observation (≥6 months). There were 19 and 2 cases with hepatitis C virus genotype 1b and 3, respectively. The patients' hepatitis activity index was 3.7 1.75, fibrosis score: 0.9 0.64, baseline viral titer: 1.18 1.12×106 IU/ml, alanine-aminotransferase level: 33.51 7.2 U/l. The last 100 unselected patients with elevated alanine-aminotransferase levels enrolled in treatment for chronic hepatitis C and who were followed for at least 6 months served as the control group with the following parameters: 41 females and 59 males (age: 18- 65, mean: 45.65 years), viral genotypes: 98 and 2 cases of type 1 and 3, respectively, hepatitis activity index: 5.44±4.03, stage: 1.29±1.00, baseline viral titer: 4.13±6.25×106 IU/ml. RESULTS - In the study group, all patients were hepatitis C virus RNA negative at the end of the treatment and with one exception remained so by the end of the 6-month follow-up period (20/21), while the sustained virologic response was 36% in the control group. The pretreatment normal alanine aminotransferase level decreased significantly (15.26 4.9 vs 33.51 7.2 U/l, p<0.001) by the end of the treatment, and remained at this level during the follow-up in all except one relapse case. CONCLUSION - The efficacy of the combined antiviral treatment is high in patients with persistently normal alanine aminotransferase levels, possibly due to the relatively younger age, the higher proportion of females, the lower baseline viral titer, and the less advanced liver disease (lower inflammatory activity and less or absent fibrosis) observed in this group. Combined antiviral treatment is recommended for patients with histologically confirmed chronic hepatitis C with normal alanine aminotransferase levels, even with mild inflammatory activity and minimal or absent fibrosis in the liver tissue. The previous suggestions based on published evidence to revise the upper limit of the normal range of alanine aminotransferase level are supported by the results of this study.]

Hungarian Immunology

JANUARY 22, 2008

[MCP-1 (monocyte chemoattractant protein-1) G/A and T-bet (T-helper promoter factor) C/G polymorphisms in primary Sjögren’s syndrome and systemic lupus erythematosus]

KOVÁCS Attila, KONCZ Ágnes, ENDREFFY Emőke, ARANKA László, PETRI Ildikó, ELLER József, SZALAI Csaba

[INTRODUCTION - Monocyte chemoattractant protein- 1 (MCP-1) is a β-chemokine involved in the attraction and accumulation of mononuclear granulocytes towards the site of inflammation. One of the transcriptional factors of T-cells is called T-bet. PATIENTS AND METHODS - The authors investigated the MCP-1-2518 G/A and T-bet 310 C/G (His33Gln) polymorphisms evaluating the distribution of the specific genotypes in 45 patients with primary Sjögren's syndrome (pSS), 51 patients with systemic lupus erythematosus (SLE), and in 320 healthy blood donors as the control group. MCP-1-2518 G/A and T-bet 310 C/G polymorphisms were detected with molecular genetic methods from the purified genomic DNA. RESULTS - The frequency of the MCP-1-2518 AG heterozygous genotype decreased tendentiously only in SLE patients, while the frequency of the MCP-1 AA homozygous genotype increased comparing to the control group (13.7% vs. 5.9%; Pearson’s χ2 test=6.125, ns.). Analyzing the genotype frequency for the MCP-1 wild (GG) and AA homozygous genotypes in pSS group, the MCP-1 AA homozygous genotype proved to be more frequent comparing to the control group (82.8%:17.2% vs. 90.7%:9.3%; Pearson’s χ2 test 1.755, ns). These relations showed only tendentious association in the SLE group (81.6%:18.7% vs. 90.7%:9.3%; Pearson’s χ2 2.811, p=0.094, ns.) There was not any significant correlation between the investigated MCP-1- 2518 G/A and the T-bet 310 C/G polymorphisms and the TNF-α -308 G/A and -238 allele polymorphisms. The frequency of T-bet was equal in relation with heterozygous (CG) to wild CC genotype in the investigated two autoimmune disorders. The GG homozygous genotype for T-bet could not be found in SLE and pSS groups, likely to be a protective factor. CONCLUSIONS - The above mentioned polymorphisms didn’t show any significant correlation with TNF-α -308 and -238 allele polymorphisms. The further research of the MCP-1 G/A and T-bet C/G polymorphisms is important, because of their possible prognostic importance for SLE and pSS.]

Lege Artis Medicinae

DECEMBER 20, 2005

[LINKAGE OF POSTPRANDIAL LIPAEMIA AND GENES MUTATIONS IN FAMILIAL DYSLIPIDEMIA]

REIBER István

[The familial combined hyperlipidemia (FCH) is the most common form of heritable lipid disorder. The prevalence of FCH is 0.5 to 2.0% in the general population, and 15 to 20% in the survivors of myocardial infarction before the age of 60 years. Healthy people spend most part of their life in postprandial state, which is the sum of the 6-8 hours after each main meal spanning over 20 or 24 hour per day. After the ingestion of the fat rich meal the intestinal chylomicrons disturbs the balance of lipid metabolism. The disorder of the lipid transport does not always manifest itself in the fasting state when the lipid transport system is yet at poise. So, the measuring of fasting triglyceride does not reflect exactly the metabolic capacity and the true atherogen risk of the subject. The healthy FCH family members may have got abnormal higher and extended postprandial lipemia contrast of the normal fasting triglyceride levels. The distributions of PvuII and HindIII polymorphisms in FCH are different from normolipidemic controls. At the same time, there is significantly higher incidence of the apo e4 allele. The apo E4/3 genotypes have got higher and extended postprandial lipemia in FCH subjects. In the investigated international and Hungarian FCH groups have got the minor allele of apolipoprotein AV T/C polymorphism more frequently. The carrying status of the minor allele is accompanied with higher fasting lipid levels and associated with higher and extended postprandial lipemia. The Hungarian results suggest a decreased and extended catabolism of the remnants in FCH caused by apoAV T/C promoter variation that seems to have a more direct effect on the postprandial status than that of apoE 3/3-4/3 polymorphism. The knowledge of characteristics of postprandial lipemia influenced by the mutations of genes described by us are more useful as only the fasting triglyceride level and it is as effective as LDL- or HDL-cholesterol value in the measuring of prognosis of development of vascular disease with athero-thrombotic origin.]

Clinical Neuroscience

FEBRUARY 10, 2004

[Clinical features and molecular diagnosis of spinocerebellar ataxia]

KLIVÉNYI Péter, HORVÁTH Zoltán, VÉCSEI László

[In the past decade, a great progress has been made in understanding genetic basis of the spinocerebellar ataxia. Based upon the genotypes, more then 20 subgroups of autosomal dominant spinocerebellar ataxia have been identified with different gene mutations. Neither the pathomechanism nor the function of these genes is fully understood. In these disorders the main clinical sign is ataxia. Other symptoms may be present as well, but no speci-fic clinical feature is known for differentiating subgroups. Specific diagnosis can be made by genetic tests. In this review we summarize the clinical features and genetic backgrounds of the most common spinocerebellar ataxias.]

Ca&Bone

APRIL 20, 2002

[Vitamin D receptor gene BsmI polymorphism in rheumatoid arthritis and associated osteoporosis - Experimental data]

RASS Péter, PÁKOZDI Angéla, LAKATOS Péter, SZABÓ Zoltán, VÉGVÁRI Anikó, SZÁNTÓ Sándor, SZEGEDI Gyula, BAKÓ Gyula, SZEKANECZ Zoltán

[AIM: Rheumatoid arthritis (RA) is commonly associated with secondary osteoporosis.The BsmI polymorphism of the vitamin D receptor (VDR) gene has been implicated in the pathogenesis of osteoporosis. However, little data is available on the relationship between rheumatoid arthritis and the BsmI polymorphism. In this study, Hungarian frequencies of BsmI polymorphism genotypes were compared with those found in other countries. METHODS: In this study, 64 RA patients and 40 healthy controls were tested for VDR gene BsmI polymorphism genotypes.The frequencies of the B and b alleles were correlated with densitometric and laboratory markers of bone metabolism as well as with laboratory markers of arthritis. RESULTS: Among control subjects, the frequency of the BB genotype (27,5%) was relatively higher than in other European populations. In RA patients with secondary osteopenia/osteoporosis the BB genotype was rarer, while the bb was more common than in control subjects. Markers of bone metabolism showed that the presence of the B allele in RA patients was associated with a lower bone mineral density and an increased bone loss, while the bb genotype was associated with a higher bone mineral content. An increased osteoclast and osteoblast activity was observed in patients with the B allele, as determined by biochemical markers of bone metabolism. Rheumatoid factor titer, an important laboratory marker of disease progression in RA, was significantly higher in bb patients compared to patients carrying the B allele. CONCLUSION: Our data suggest that the imbalance in B and b allele expression may be involved in the pathogenesis of osteoporosis and perhaps of rheumatoid arthritis.]

Lege Artis Medicinae

APRIL 20, 2001

[Introduction of hepatitis G and TT virus diagnostics in Hungary]

TAKÁCS Mária, RUSVAI Erzsébet, BROJNÁS Judit, TÓTH Gábor, N. SZOMOR Katalin, TÓTH Etelka, SZENDRŐI Andrea, MEZEY Ilona, BERENCSI György

[INTRODUCTION - The majority of the viral hepatitis is caused by five hepatitis viruses (A, B, C, D, E). In 1995, three new flaviviruses were discovered, the GBV-A, GBV-B and GBV-C (also known as HGV) viruses. The TT virus was discovered in 1997. Based on literature data, it is now supposed that a part of the unknown hepatitis cases is caused by the recently discovered hepatitis G or TT virus. The aim of this study was to determine the occurrence of hepatitis G and TT viruses in Hungary. PATIENTS AND METHODS - To reveal the RNA of the HGV viruses in the sera of patients suffering from hepatitis of unknown origin, RT-PCR was applied using the primers published in the literature. Seminested PCR was used to detect the DNA of TTV. The nucleotide sequences of nested PCR products were determined. Anti-HGV antibodies were detected by ELISA. RESULTS - The sera of 408 healthy persons older than 60 years were tested for the presence of hepatitis G virus antibodies: 113 tested positive. HGV virus antibodies were found in the sera of patients suffering from hepatitis of unknown origin or aplastic anaemia. 51 sera were tested and 20 were found to be positive for GBV-C antibodies, 4 for HGV RNA. Altogether, 213 sera of patients suffering from hepatitis of unknown origin or from aplastic anaemia were tested for HGV RNA and 26 were found to be positive. Eight PCR products were sequenced, and these sequences were found to be different from each other. 154 sera of patients with hepatitis of unknown origin were tested for the presence of TTV-DNA and 72 of them were positive. Seven PCR products were directly sequenced. Genotype 2 was found to be the most frequent one in Hungary.CONCLUSION - Our results show that both HGV and TTV are present in Hungary and none of them can be considered rare. Further studies are needed to reveal the association between the genotypes of these viruses and hepatitis of unknown origin.]