Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.

In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.

The Relationship between Dietary Patterns with Blood Pressure in Iranian Army Staffs.

BACKGROUND: Hypertension is one of the most common noncommunicable diseases in the world. One of the most effective factors on blood pressure (BP) is nutrition. The aim of this study was to examine the relationship between dietary patterns and BP among military staffs. MATERIALS AND METHODS: The study was carried out among 405 military staffs between 22 and 51 years old. Demographic, anthropometric information, and BP of participants were evaluated by standard methods. The dietary intakes were collected using a food frequency questionnaire (FFQ). Dietary patterns were identified using a posteriori method, factor analysis, and based on the FFQ. To check the relationship between BP and dietary patterns, we used multivariate linear regression in different models, relationship were adjusted for Age, sex, marital, smoking, income, body mass index, waist-to-hip ratio, family history of hypertension, energy intake, and physical activity level. RESULTS: Two dominant dietary patterns were identified in the participants: Healthy and western pattern. The association of dietary patterns with systolic BP (SBP) and diastolic BP (DBP) was exhibited in different models. There was no relationship between SBP and DBP with healthy pattern (P = 0.269 and P = 0.638, respectively) and western pattern (P = 0.648 and P = 0.315, respectively) after adjustments. CONCLUSION: Our findings indicated that dietary patterns did not have any significant relationship with SBP and DBP after adjustment for confounders in the healthy military. To identify the dietary patterns associated with BP in healthy military, more strong design studies and more participants should be conducted in the future.

Greater adherence to the dietary approaches to stop hypertension (DASH) dietary pattern is associated with lower blood pressure in healthy Iranian primary school children.

PURPOSE: The dietary determinants of children blood pressure (BP) are poorly understood. We examined the association between adherence to the dietary approaches to stop hypertension (DASH) dietary pattern and BP in healthy Iranian primary school children. METHODS: This cross-sectional study was conducted among a representative sample (n = 407) of healthy Shirazi students aged 6-12 years. Subjects' systolic and diastolic BP were measured by a validated oscillometric BP monitor. Usual dietary intakes over the past 12 months were assessed using a valid and reproducible 168-item semi-quantitative food frequency questionnaire via face-to-face interviews. A DASH score was calculated for each subject based on his/her energy-adjusted intakes of 8 major dietary components emphasized or minimized in the DASH dietary pattern. The higher the DASH score of a subject, the more his/her adherence to the DASH dietary pattern. RESULTS: After controlling for several potential confounders in the analysis of covariance models, multivariable-adjusted means of systolic and mean BP of subjects in the highest tertile of DASH score were significantly lower than those in the lowest tertile (for systolic BP: mean difference -6.2 mmHg, P = 0.010; and for mean BP: mean difference -5.4 mmHg, P = 0.013). Furthermore, a similar but statistically insignificant difference was found in terms of multivariable-adjusted means of diastolic BP (mean difference -3.9 mmHg, P = 0.146). CONCLUSIONS: The findings suggest that greater adherence to the DASH dietary pattern is associated with lower BP in healthy Iranian primary school children. However, future prospective studies of adequate methodological quality are warranted to confirm these findings.

Increased Waist-to-height Ratio May Contribute to Age-related Increase in Cardiovascular Risk Factors.

BACKGROUND: The risk of cardiovascular diseases (CVDs) increases with age. The objective was to determine whether lifestyle and dietary behaviors and anthropometric measures, which are affected by these behaviors, contribute to the increase of CVD risk factors across age categories of 20-50-year-old. METHODS: In a cross-sectional design, 437 adults aged 20-50-year-old were selected from households living in Shiraz. Risk factors of CVD, including body mass index (BMI), waist-to-height ratio (WHtR), blood pressure, fasting blood glucose (FBG), serum triglycerides, total cholesterol, and low- and high-density lipoprotein cholesterol (LDL-C and HDL-C, respectively) as well as lifestyle behaviors (physical activity and smoking), dietary habits, and food intakes were assessed across the age categories of 20-29, 30-39, and 40-50 years. Linear regression was used to examine the contribution of different variables to the age-related increase of CVD risk factors. RESULTS: All CVD risk factors, except for HDL-C, significantly increased across age categories. Older subjects had healthier dietary habits and food intakes, but they possessed nonsignificantly lower physical activity and higher smoking rate compared to younger adults. Adjusting for physical activity, smoking, and BMI did not change the significant positive association between age and CVD risk factors but adjusting for WHtR disappeared associations for blood pressure, triglycerides, and metabolic syndrome although significant associations remained for FBG and total and LDL-C. CONCLUSIONS: Age-related increase of CVD risk factors occurred independent of lifestyle habits. WHtR, but not BMI, may partially contribute to the age-related increase in CVD risk factors.