association between [8390G>A] single nucleotide polymorphism in APOE gene with Alzheimer's and Parkinson disease

Genetic susceptibility, is considered to be involved in neurodegenerative diseases such as Alzheimer's disease [AD] and Parkinson's disease [PD]. Despite the fact that many susceptibility genes for AD and PD have been considered, the most probable genetic risk factor which has been taken into consideration is Apolipoprotein E genotype located on chromosome 19q, APOE is the gene widely considered to be a susceptibility gene for neurodegenerative diseases. This study is to investigate the association of APOE polymorphism with AD and PD. In this case control study we examined association of an APOE gene polymorphism [rs121918398] with AD and PD in Iranian population. The study included 100 AD patients, 100 PD patients and 150 healthy volunteers. An informed consent was obtained from all participants. Genomic DNA was extracted from peripheral blood leukocyte. Genotypes were determined by PCR and restriction fragment length polymorphism [RFLP] by Hha1 restriction enzyme. Sequencing of PCR products was carried out by Fazabiotech Company according to Sanger method using ABI 3730XL Capillary Sequencer. Statistical analysis was performed using the MedCalc program. The prevalence of genotype frequencies of the APOE A/A, A/G, G/G were 16%, 34% and 50% in AD subjects, 14%, 32%, 54% in PD patients and in healthy volunteers were 15%, 39% and 96% respectively. Statistical analysis showed no significant difference between genotype frequencies of AD and those of control subjects [P < 0.05]. Moreover, according to statistical analysis, the genotype frequencies of APOE in PD subjects and control group did not significantly differ. This is the very first time that the association of this polymorphism [rs121918398] with AD is being reported nevertheless, there is no evidence that APOE variant is associated with PD. Accordingly, genotype alteration of A8390>G can't be related to AD. So, this polymorphism plays no pathogenic role in the PD and AD patients in Iranian population

rare de novo complex chromosomal rearrangement [CCR] involving four chromosomes in an oligo-asthenosperm infertile man

Complex chromosomal rearrangements [CCRs] are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis to the Genetics unit of Royan Reproductive Biomedicine Research Center. Chromosomal analysis was performed using peripheral blood lymphocyte cultures and analyzed by GTG banding. Additional tests such as C-banding and multicolor fluorescence in situ hybridization [FISH] procedure for each of the involved chromosomes were performed to determine the patterns of the segregations. Y chromosome microdeletions in the azoospermia factor [AZF] region were analyzed with multiplex polymerase chain reaction. To identify the history and origin of this CCR, all the family members were analyzed. No micro deletion in Y chromosome was detected. The same de novo reciprocal exchange was also found in his monozygous twin brother. The other siblings and parents were normal. CCRs are associated with male infertility as a result of spermatogenic disruption due to complex meiotic configurations and the production of chromosomally abnormal sperms. These chromosomal rearrangements might have an influence on decreasing the number of sperms

Efficacy of double dose recombinant hepatitis b vaccination in chronic hepatitis c patients, compared to standard dose vaccination

Hepatitis B virus [HBV] vaccination is a well-known, safe and effective way for protection against HBV infection; however, non-responders remain susceptible to infection with HBV. This is so important in patients with any kind of chronic liver disease, especially chronic hepatitis C virus [HCV] patients in whom acute HBV infection may lead to decompensation of liver disease. Some of the studies have shown that immunogenicity of HBV vaccination is decreased in these patients. The aim of this study was to evaluate the efficacy and safety of double dose vaccination of HBV in these patients, compared with standard dose vaccination in similar patients and healthy adults. A total of64 patients with chronic HCV infection were randomized into 2 groups of 32. Group A received standard dose HBV vaccine, at 0, 1, 6 months, whereas group B received double dose HBV vaccine. Group C consisted of 32 healthy adults who also received standard dose vaccination. At 1 month after the end of vaccination, Hepatitis B surface antibody [HBsAb] titer was checked in all participants and the results were compared. There was no significant difference in age or sex among three groups. The response rate in groups B and C was 100% [all had HBsAb titer >10 mIU/mL], while in group A, 4 patients [12.5%] were non-responders [HBsAb titer < 10 mIU/mL]. The difference in response rate was statistically significant between Group A and the other two groups [P< 0.05]. The efficacy of standard dose HBV vaccination in patients with chronic HCV infection was suboptimal. Using double dose vaccination in these patients was an effective way to increase the antibody response

estimation of direct medical costs of treating patients with chronic hepatitis B and C in Iran

The objective of this study is to estimate the average diagnosis and treatment costs of chronic hepatitis B and C, with respect to different therapeutic strategies in Iran. This is a descriptive, analytical, and cross sectional study carried out on patients with hepatitis B and C, who were referred to the Liver Disease Research Center for Prevention and Treatment of Hepatitis, Isfahan University of Medical Sciences, in 2011. We have estimated the direct medical costs including doctors' fees, cost of para clinical tests, medical treatments, and liver biopsy, in different treatment strategies. The results of this study showed that the total cost of diagnostic services for hepatitis B virus [HBV] and hepatitis C virus [HCV] patients, with state medical tariffs, was US$ 1499.07 and US$ 2084.89, respectively. The patients' profiles showed that there were currently seven therapeutic strategies available to treat HBV patients. The total cost of treatment strategies varied significantly from US$ 73 to US$ 8256. There were also four main strategies for HCV patients, each of these could be applied in two periods of time. The total cost of these treatment strategies showed a high disc repancy from US$ 242 t o US$ 8256. The results confirmed that the total direct medical cost for an HBV patient in Iran exceeded US$ 5.5 Milliard in 2011. The results implied that the market price of direct medical cost of HBV and HCV patients in Iran is much higher than the estimated state costs. These costs would likely be saved or reduced by effective disease management and early prevention

Hepatitis D virus infection in Isfahan, central Iran: prevalence and risk factors among chronic HBV infection cases

Hepatitis D virus [HDV] is dependent on hepatitis B virus [HBV] infection. Acute infection with HDV can occur simultaneously with acute HBV infection of be superimposed onto a chronic HBV infection. This study aimed to identify cases of HCV and determine its prevalence in patients with chronic HBV infection for the first time study in Isfahan, central Iran. In a cross-sectional study in 2009, 346 who had been diagnosed for at least 6 months with chronic HBV were enrolled consecutively. Anti-HDV was measured by ELISA in the serum of these patients. The study included 245 males [70.8%] and 101 [29.2%] females with a mean age of 39 +/- 12.4 years. Anti-HDV was present in 8 [3.5%] HBe antibody-positive patients [p= 0.36] and in 2 [2.3%] HBe antigen-positive cases [p = 0.68]. No association was found between hepatitis D and probable risk factors. This study demonstrates that the prevalence of HDV infection is higher in patients who are positive for HBeAb compared those who are HBeAg-positive. Therefore, most HDV antibody-positive cases in Isfahan are HBV/HDV superinfections but not coinfections

Prevalence of hepatitis C virus, hepatitis B virus, human immunodeficiency virus and related risk factors among hemophilia and thalassemia patients In Iran

This study was conducted to assess the prevalence of Hepatitis C virus [HCV], Hepatitis B virus [HBV] and Human immunodeficiency virus [HIV] among hemophilia and thalassemia patients. Present study was conducted from October 2008 to December 2010 in Isfahan, Iran. One thousand one hundred and sixty adult multi-transfused patients [822 males, 338 females, mean age 22.7 +/- 11.5 years] suffering from beta-thalassemia [n = 545] and hemophilia [n=615] were enrolled in the study. Blood samples were obtained from the patients and were tested for HBs Ag, Anti-HCV Ag and Anti- HIV Ab. HCV positive patients underwent genotype determination. Of 545 thalassemia patients, 312[57.2%] were male and 233 [42.8%] were female. From 615 hemophilia patients, 511[83%] were male and 104 [17%] were female. Chronic hepatitis was detected in 505[82.1%] hemophilia patients of which 495 [98%] were HCV Ab positive and 10 [2%] had HBsAg positive. The prevalence of HCV Ab positive and HBsAg positive in 56 [11%] thalassemia patients with chronic hepatitis was 50 [89.2%] and 6 [10.8%] respectively. None of the thalassemia and hemophilia patients were positive for HIV Ab. History of hepatitis in family is the major risk factors and HCV genotype 1 was the major genotype in our patients. HCV is the major virus of concern in multi-transfused patients. The strategies for prevention of HCV, HBV and HIV and safety of blood products in this respect have indeed been successful

Efficacy of triple therapy with interferon alpha-2b, ribavirin and amantadine in the treatment of naive patients with chronic hepatitis C

There is controversy about the efficacy of amantadine in the treatment of chronic hepatitis C. In this study, we evaluated the efficacy of triple therapy with interferon-alpha, ribavirin and amantadine in the treatment of naive patients with chronic hepatitis C. Forty-eight patients with genotype 3 chronic hepatitis C received a three-drug regimen: interferon alpha-2b, 3 million units, three times a week, ribavirin 1000-1200 mg based on body weight, daily, in divided doses, and amantadine 100 mg twice daily, for six months. End of treatment response [ETR], sustained virologic response [SVR], biochemical response and histologic improvement were evaluated. Forty-eight patients, 41 male and 7 female, with a mean age of 37.42 +/- 16.2 years, were enrolled in the study. During treatment, four patients were excluded from the study due to severe thrombocytopenia, major depression and incompliance. End of treatment response was seen in 38 [86.36%] patients. Among these patients, 34 [77.27%] had sustained virologic response 6 months after the end of treatment and 40 [91%] had improvement in serum level of liver enzyme. Among patients who had response to treatment, liver biopsy was performed for 33 at the end of treatment and 31 patients had histologic improvement. Five non-responsive patients underwent liver biopsy at the end of treatment, and 2 of them had histologic improvement. No major side effects due to amantadine occurred in our patients. Triple therapy with interferon-alpha-2b, ribavirin and amantadine is a safe and effective regimen in the treatment of chronic hepatitis C