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Background: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. Methods: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. Results: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283). MECP2 and IRAK1 were associated with the neurological phenotypes in dose-sensitive and dose-critical manner. The brothers demonstrated severe intellectual disability, autistic features, generalized hypotonia, recurrent infections, epilepsy, choreiform movements such as hand-wringing movement, and moderate increased spasticity with the lower limbs. The X-inactivation test showed a complete skewed X inactivation pattern of mother. In this reason, the mother had the same loci duplication but showed significantly little neurological manifestation compared to the two sons. Conclusions: MECP2/IRAK1 duplication at Xq28 is inherited as an X-linked recessive trait and male-specific disorder associated with severe intellectual disability. We tried to analyze the information of the relationship between neuropsychiatric phenotype and the extent of duplication at Xq28 by comparing with previous reports. [ABSTRACT FROM AUTHOR]

Background: A recent systematic review reported that mild drinking showed beneficial effects on mortality. However, this relationship between alcohol consumption and mortality differs by race, and there are few studies on Koreans. In this study, we reviewed previous studies conducted on Koreans to investigate the association between mild drinking and mortality.Methods: Four databases (Medline, Web of Science, KoreaMed, and DBpia) were searched. Studies investigating the risk of alcohol consumption on three types of mortality (all-cause mortality, cancer-related mortality, and cardiovascular mortality) for Koreans were included.Results: A total of 16 studies assessed alcohol consumption as a risk factor for mortality. Nine studies reported on the risk of alcohol consumption in relation to all-cause mortality, eight to cancer-related mortality, and three to cardiovascular mortality. Among these, only studies assessing alcohol amount not drink status or drink frequency were included in meta-analysis. The results of the meta-analysis did not show a significant effect of mild alcohol consumption on all-cause mortality (5 studies, OR: 0.85, 95 % CI: 0.72, 1.01). While meta-analysis of studies using all-cancer mortality showed significant effect of alcohol consumption (4 studies, OR: 0.89, 95 % CI: 0.85, 0.94), results of studies including all-cancer and specific type of cancer was not significant (7 studies, OR: 1.02, 95 % CI: 0.9, 1.15). Although a meta-analysis of cardiovascular mortality could not be conducted owing to a lack of studies, all studies reported a non-significant effect of occasional or mild alcohol consumption.Discussion: In this study, mild alcohol consumption in Korean did not show beneficial effect on mortality and it might be caused by three factors: criterion of mild drinking, the subjects, and sample size. The criterion of mild alcohol consumption was diverse in included studies. The effect of alcohol consumption could differ based on subjects' sex, age as well as race. In addition, the effect of alcohol consumption might be different from previous one due to the small number of studies.Conclusions: Mild alcohol consumption did not show any beneficial effects in relation to all-cause, cancer-related, and cardiovascular mortality. Additional studies are necessary to verify any association between mild drinking and mortality in Koreans. [ABSTRACT FROM AUTHOR]

Background: Low-dose aspirin is recommended to reduce the risk of cardiovascular disease. However, the questions with regard to primary prevention have been raised among patients with diabetes. We evaluated low-dose aspirin use for preventing ischemic stroke in patients with diabetes using a national health insurance database. Methods: Using data from the Korean Health Insurance Review and Assessment Service database from January 1, 2005, through December 31, 2009, a population-based retrospective cohort study was conducted with incident patients with diabetes aged 40 to 99 years old with the initial use of low-dose aspirin during the index period from January 1, 2006 to December 31, 2007. We matched each low-dose aspirin user to one non-user using a propensity score. The Cox proportional hazards model was used to compare the risk of hospitalization for ischemic stroke in users and nonusers of low-dose aspirin until December 31, 2009. Results: Out of 261,065 incident patients with diabetes, 15,849 (6.2%) were low-dose aspirin users. Compared to non-users, the adjusted hazard ratio (95% confidence interval) of low-dose aspirin users for hospitalization due to ischemic stroke was 1.73 (95% CI; 1.41-2.12). In a sensitivity analysis of study subjects with more than 1 year follow-up periods, slightly higher adjusted hazard ratio (1.97, 95% CI; 1.51-2.62) was observed. In the subgroup analyses, there were no significant changes in the risk of hospitalization for ischemic stroke irrespective of gender, age, or comorbidity. Conclusions: In this study of patients with diabetes, the use of low-dose aspirin showed an increased risk of hospitalization for ischemic stroke. These results suggest that low-dose aspirin use for the primary prevention of ischemic stroke should be reconsidered in patients with diabetes. [ABSTRACT FROM AUTHOR]

Background The effect of pomegranate vinegar (PV) on adiposity was investigated in high-fat diet (HF)- induced obese rats. Methods The rats were divided into 5 groups and treated with HF with PV or acetic acid (0, 6.5 or 13% w/w) for 16 weeks. Statistical analyses were performed by the Statistical Analysis Systems package, version 9.2. Results Compared to control, PV supplementation increased phosphorylation of AMP-activated protein kinase (AMPK), leading to changes in mRNA expressions: increases for hormone sensitive lipase and mitochondrial uncoupling protein 2 and decreases for sterol regulatory element binding protein-1c (SREBP-1c) and peroxisome proliferator-activated receptorγ (PPARγ) in adipose tissue; increases for PPARα and carnitinepalmitoyltransferase-1a (CPT- 1a) and decrease for SREBP-1c in the liver. Concomitantly, PV reduced increases of body weight (p = 0.048), fat mass (p = 0.033), hepatic triglycerides (p = 0.005), and plasma triglycerides (p = 0.001). Conclusions These results suggest that PV attenuates adiposity through the coordinated control of AMPK, which leads to promotion of lipolysis in adipose tissue and stimulation of fatty acid oxidation in the liver [ABSTRACT FROM AUTHOR]

Background: Hypertension is a risk factor for cardiovascular disease, and the prevalence of hypertension tends to increase with age. Current treatments for hypertension have adverse side effects and poor adherence. The purpose of this study is to evaluate the effects of moxibustion on blood pressure in individuals with pre- or stage I hypertension. Methods/design: Forty-five subjects with pre- or stage I hypertension will be randomized into three groups: treatment group A (2 times/week), treatment group B (3 times/week), and the control group (non-treated group). The inclusion criteria will be as follows: (1) aged between 19 and 65 years; (2) prehypertension or stage I hypertension (JNC 7, Seventh Report of the Joint National Committee on the Prevention, Detection, Evaluation, and Treatment of High Blood Pressure); (3) the participants are volunteers and written consent obtained. The participants in the treatment group A will undergo indirect moxibustion 2 times per week for 4 weeks, and the participants in the treatment group B will undergo indirect moxibustion 3 times per week for 4 weeks. The participants in the control group (non-treated group) will maintain their current lifestyle, including diet and exercise. The use of antihypertensive medication is not permitted. The primary endpoint will be a change in patient blood pressure. The secondary endpoints will be the body mass index, lipid profile, EuroQol and Heart Rate Variability. The data will be analyzed with the Student's t-test and analysis of variance (ANOVA) (p < 0.05). Discussion: The results of this study will help to establish the optimal approach for the care of adults with pre- or stage I hypertension. [ABSTRACT FROM AUTHOR]

Early infant diagnosis (EID) of HIV-1 infection confers substantial benefits to HIV-infected and HIV-uninfected infants, to their families, and to programs providing prevention of mother-to-child transmission (PMTCT) services, but has been challenging to implement in resource-limited settings. In order to correctly inform parents/caregivers of infant infection status and link HIV-infected infants to care and treatment, a 'cascade' of events must successfully occur. A frequently cited barrier to expansion of EID programs is the cost of the required laboratory assays. However, substantial implementation barriers, as well as personnel and infrastructure requirements, exist at each step in the cascade. In this update, we review challenges to uptake at each step in the EID cascade, highlighting that even with the highest reported levels of uptake, nearly half of HIV-infected infants may not complete the cascade successfully. We next synthesize the available literature about the costs and cost effectiveness of EID programs; identify areas for future research; and place these findings within the context of the benefits and challenges to EID implementation in resource-limited settings. [ABSTRACT FROM AUTHOR]

Several studies reported that moxibustion was effective in treating constipation. This systematic review assesses the clinical evidence for or against moxibustion for treating constipation. Twelve databases were searched from their inception to March 2010. Only randomized clinical trials (RCTs) were included if they compared moxibustion with placebo, sham treatment, drug therapy or no treatment. The methodological quality of these RCTs was assessed with the Cochrane risk of bias analysis. All three RCTs included in the study had a high risk of bias. Two included studies found favorable effects of moxibustion. The third RCT showed significant effects in the moxibustion group. Given that the methodological quality of all RCTs was poor, the results from the present review are insufficient to suggest that moxibustion is an effective treatment for constipation. More rigorous studies are warranted. [ABSTRACT FROM AUTHOR]