Biased Homozygous Haplotypes Across the Human Caveolin 1 Upstream Purine Complex in Parkinson’s Disease

The alpha-synuclein–caveolin 1 axis is suggested to be of role in the pathogenesis of Parkinson’s disease in cell line models. The objective of this study was to analyze the homozygous haplotype compartment of the human caveolin 1 gene upstream purine complex in patients afflicted with Parkinson’s disease. This complex was screened in patients with Parkinson’s disease (n?=?141) and compared with a group of controls (n?=?760) using polymerase chain reaction and sequencing. The expression activity of the homozygous haplotypes was then examined using luciferase Dual-Glo system in human neuronal cell line, LAN-5. Six haplotypes were found to be homozygous in the patients, and not in the control pool (Fisher exact p?<?1?×?10^?6). Three of those haplotypes were specific to Parkinson’s disease (Fisher exact p?<?0.002), and the remaining three overlapped with homozygous haplotypes in Alzheimer’s disease and multiple sclerosis (Fisher exact p?<?0.002). The disease haplotypes contained motif lengths that were nonexistent in the control homozygous haplotype pool and significantly increased gene expression (p?<?9?×?10^—6). We conclude that skew in the caveolin 1 purine complex homozygous haplotype compartment and an additive effect of those haplotypes may be linked with Parkinson’s disease.     

HLA‐DRA is associated with Parkinson's disease in Iranian population

The rs3129882, a noncoding variant in HLA‐DR, was found to be associated with Parkinson's disease (PD) using several genome‐wide association studies. The aim of this replication study was to explore the relationship between this variant and PD in Iranian population. Genomic DNA was extracted from peripheral blood samples, and the rs3129882 SNP was genotyped using a PCR‐RFLP method in 520 PD patients and 520 healthy Iranian controls. Significant differences were found in allele frequencies between patients and controls (χ² = 4.64, P = 0.031). Under additive and dominant models, the association of the SNP with PD risk is significant, where the A allele was observed to be protective. The results suggest that rs3129882 polymorphism may be a risk factor for PD in Iranian. This is the first study reporting such an association in this population. More replication studies are needed to confirm this data.     

Developmental and cytogenetic assessments of preimplantation embryos derived from in-vivo or in-vitro matured human oocytes

Aneuploidy is of great relevance to embryo selection, as it represents one of the important causes of implantation failure. Furthermore, immature oocytes, retrieved during gonadotrophin-stimulated IVF cycles, are generally discarded in clinics; whereas, there was no detectable comprehensive evidence on higher rates of aneuploidy based on maturity status on the day of oocyte retrieval. As well, the correlation between embryo morphology on aneuploidy remains unclear. The aim was to evaluate the developmental and genetic integrity of human preimplantation embryos from rescue in-vitro matured MII stage oocytes as well as in vivo matured oocytes. 541 rescue in-vitro matured oocytes as case as well as 659 in-vivo matured oocytes as control were used for the developmental assay. Finally, 121 cleaved embryos with good quality were analyzed by FISH technique for the detection of chromosomes X, Y, 13, 15, 16, 18, 21 and 22. The fertilization rates were 61.62% and 61.76% in case and control groups, respectively. Also, embryo formation rates of 89.1% vs. 92.2% were recorded for case and control groups, respectively. Good quality embryos on day 3 were 62.54% in case and 68.36% in control groups. There were insignificant differences in fertilization, embryo formation and quality between the groups. Total abnormality in 35 of the 60 embryos was 58.5% in case and 62.3% in control (p < 0.05). There were significant differences between aneuploidy rates of embryos using only sex chromosome preimplantation genetic screening (PGS) and sex chromosome in combination with autosomal chromosomes PGS in case (58.5% vs 28.3%, p = 0.000) and control groups (62.3% vs 21.3%; p = 0.000). The results demonstrated that a high proportion of good quality embryos were aneuploid in both patient groups with no obvious increase in aneuploidies as a result of rescue IVM application. Furthermore, the morphological characteristics of embryos do not completely consistent with chromosomal content. Despite the Rescue IVM is currently not a routine procedure in association with IVF, our finding suggested a viable option for young infertile women facing cancellation of their IVF treatment due to ovarian over-response or resistance factors as well as patients with low functional ovarian reserve considering good quality of embryos from rescue IVM-MII oocytes.     

Attributes of environments supporting walking

PURPOSE: This study established a framework to audit environments supporting walking in neighborhoods. DESIGN: Cross-sectional analysis using a telephone survey and 200 objective environmental variables. SETTING. Urbanized King County, WA. SUBJECTS. 608 randomly sampled adults. Measures. Walking measures constructed from survey questions; objective environmental measures taken from parcel-level databases in Geographic Information Systems. ANALYSIS: Multinomial models estimated the odds of people engaging in moderate walking (<149 min/wk) and in walking sufficiently to meet recommendations for health (150+ min/ wk), relative to not walking" and in walking sufficiently, relative to walking moderately. A base model consisted of survey variables, and final models incorporated both survey and environmental variables. RESULTS. Survey variables strongly associated with walking sufficiently to enhance health included household income, not having difficulty walking, using transit, perceiving social support for walking walking outside of the neighborhood, and having a dog (p < .01). The models isolated 14 environmental variables associated with walking sufficiently (pseudo R2 up to 0. 46). Measures of distance to neighborhood destinations dominated the results: shorter distances to grocery stores/markets, restaurants, and retail stores, but longer distances to offices or mixed-use buildings (p < .01 or .05). The density of the respondent's parcel was also strongly associated with walking sufficiently (p < .01). Conclusions. The study offered valid environmental measures of neighborhood walkability.     

Genotype distribution of hepatitis C in the Cordoba City, Argentina

"Background: Knowledge of Hepatitis C virus genotype (HCV) present in a patient has an epidemiological interest. In addition, it has an important prognostic value that guides the duration and success of treatment. Aims: To analyze the distribution of genotypes in HCV-positive patients and linking them with the viral load before and after treatment, evaluating sustained viral response. Patients and methods: We retrospectively analyzed the results of genotyping and HCV viral load of 71 patients during the period January 2001 to May 2009. The genotypes were determined by RFLP (restriction fragment length polymorphism) and the viral load by NASBA HVC quantitative. Statistical analysis was performed using the Infostat program. Results: 59% of patients were women. The frequency of genotypes was: 39% type 1, 58% type 2 and 3% type 3. We do not find a cutoff value of viral load to identify the different genotypes, although patients with genotype 1 had a higher number of viral copies than those of genotype 2 (p <0.0001). After treatment, 95% of patients with genotype 2 had a sustained viral response versus 67% of patients with genotype 1.Conclusions: The genotype 2 was the most prevalent in our population. It also confirmed the impact of knowledge of HCV genotype on sustained viral response, which was related related surgical interventions to infection with HCV type 2."     

Fat and fiber knowledge and behaviors related to body mass index

Numerous dietary recommendations aim to decrease fat and increase fiber in the American diet, yet obesity remains a major public health problem in the United States as indicated by excessive weight for height ratios. The purpose of the Western Regional Project 182 was to examine knowledge, attitudes, and practices of the general population in 11 states and the District of Columbia regarding dietary fat and fiber. This paper specifically discusses the survey results related to the relationships of fat and fiber knowledge and food behavior to body mass index (BMI). Using self-reported weight and height, it was estimated that more than one third of the respondents (n = 1297, 42%) had a BMI ≥ 26. Subjects with BMI scores less than 26 generally had the highest knowledge scores of all BMI groups, but no significant differences in fat knowledge were found among the BMI classifications. Behavior that was related to fat intake was significantly (p < 0.05) different in respondents with a BMI < 26 as compared to those with higher BMI scores. Gender differences for fat, fiber, and overall behavior were also highly significant (p < 0.0001) with favorable diet-related behaviors exhibited by females. Education, income level, residence, and age were consistently related to the BMI of females, but not males. Women who graduated from college, earned more than $50,000 per year, and lived in an urban location of >250,000 people were most likely to have a lower BMI than females with other educational levels, lower economic categories, and from less populated areas. Results support continued use of government and private funds to educate Americans to improve diet and achieve acceptable weights for heights.     

Merkel cell carcinoma on the right calf in association with chronic lymphocytic leukemia: A case report

This study showed a rare case of Merkel cell carcinoma (MCC) with atypical manifestations accompanied by chronic lymphocytic leukemia of B‐cell type that underwent chemotherapy and had poor prognosis. The findings suggest that the physicians should consider MCC when performing diagnosis and assess all possible associated risk factors like neoplasms to achieve good prognosis.     

Exercise training and nutrient intake in elderly women

This study examined the relationship between moderate exercise training (five 30- to 40-minute sessions per week for 12 weeks at 60% of heart rate reserve) and changes in nutrient intake in a group of 30 sedentary elderly women aged 67 to 85 years. Subjects were placed randomly into two groups (those who walked and those who did calisthenics) and were followed for 12 weeks. Measurements were done at three times (baseline, 5 weeks, and 12 weeks). Dietary intake was based on 7-day food records. The 12-week walking program resulted in a significant (12.6%) improvement in maximum oxygen consumption ( ₂max) but no change in body weight or skinfold thicknesses compared with the calisthenics program. Despite the improvement in cardiorespiratory fitness, no significant group × time interaction effects were observed for most of the nutrient intake variables tested. To test the effects of high levels of physical activity on nutrient intake, cross-sectional comparisons were made at baseline between highly conditioned and sedentary elderly women. The highly conditioned elderly women had higher energy and nutrient intakes, especially when expressed on a weight-adjusted basis. However, no differences in measures of dietary quality were found. Dietitians should not expect spontaneous improvement in either the quantity or quality of nutrient intake by elderly women who adopt a moderate exercise program. Although nutrient intake was greater in highly conditioned elderly women, their level of fitness and physical activity may be beyond the reach of many elderly women.     

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, syndactyly of the fingers, and hypoplastic thumbs. The patient now four years old, has a normal twin sister, and the parents are unrelated. The abnormal 16p was originally detected by banding cytogenetic techniques, and was characterized by multicolour banding fluorescence in situ hybridization (MCB). The MCB pattern on the derivative chromosome 16 indicated a direct duplication of the region 16p11.2 to 16p13.1.