Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. The enzyme is at least composed of membrane-bound subunits gp91-phox and p22-phox (also named cytochrome b558 ), and cytosolic ones p40-phox, p47-phox and p67-phox. A defect in the enzyme activity leads to impaired intracellular killing of phagocytic cells. The CYBA gene encoding p22-phox is located on chromosome 16q24. In this study, new genetic changes of CYBA gene in 22 Iranian patients with autosomal recessive-CGD (AR-CGD) were identified. Twenty-two patients with CGD were referred to Immunology, Asthma and Allergy Research Institute (IAARI) and enrolled in this study based on defect in NADPH oxidase activity, demographic data and clinical histories. All patients had p22-phox deficiency based on Western blotting. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMCs), and PCR followed by direct sequencing was performed to find p22-phox mutations. Mutation analysis of CYBA revealed 12 different mutations, including three novel mutations: one was deletion of exon 1, and two were point mutations in exon 3 (c.136G>A (p.Gly46Ser)), and exon 6 (c.388C>T (p.Gln130X)). Three new mutations of CYBA gene in four of 22 Iranian patients with AR-CGD were found. These three novel mutations can partly complete the database of Human Gene Mutation Database (HGMD) and other related ones. It can also be helpful for further prenatal diagnosis in the affected families. Given that currently bone marrow transplantation is considered to be the curative treatment for patients with CGD, finding mutations will also be useful for timely decision-making in bone marrow transplantation.

Comparison between the effect of 6 weeks of morning or evening aerobic exercise on appetite and anthropometric indices: a randomized controlled trial.

Several studies have shown that exercise is directly related to creating negative energy balance and changes in appetite. However, few studies have examined the effect of exercise time during the day on these factors. The aim of the present study was to demonstrate the effect of 6 weeks of morning and evening aerobic exercise on appetite and anthropometric indices. A total of 48 overweight females were recruited to this clinical trial. By the time of exercise, they were divided into two groups (morning or evening) and performed 6 weeks of exercise with a target heart rate on the ventilatory threshold. Appetite change, calorie intake and anthropometric indices were assessed. Consistent changes in appetite scores were not found during the 6 weeks (P > 0.05). Calorie consumption of the morning group decreased significantly more than that of the evening group (P = 0.02) during the 6 weeks. In addition, significant changes in body weight, body mass index, abdominal skin fold thickness and abdominal circumference were seen in the morning group. It appears that moderate- to high-intensity aerobic exercise in the morning could be considered a more effective programme than evening exercise on appetite control, calorie intake and weight loss in inactive overweight women. However, the limitations of the study, such as short-term duration, should be noticed.

Radiographic examination of the greater sciatic notch in determining the sex among Iranian people.

The distinctive morphology of the human innominate bone (os coxae) and its clear sexual dimorphism make it of interest from anatomical, anthropological and forensic points of view. The features of the greater sciatic notch of the coxae are characteristic and are commonly used to determine sex in unknown individuals. In this study, several measurements of the greater sciatic notch, e.g. width (AB), depth (OC) and width of the posterior segment (OB) were taken and indices I and II were calculated in 64 adult (32 men and 32 women) and side (right: left) coxae radiography (A-P view). Results indicated that out of all the parameters studied, width of the notch (right and left) (P < 0.001), posterior segment width (right and left) (P < 0.001), right (P = 0.036) and left (P = 0.008) index II of notch were found to be significantly greater in women as compared with men. Discriminant function analysis showed that the accuracy of sex determination varied from 100% in the men and 40% in the women groups to 70% for the total group. These results can be used as an aid to the identification of human skeletal remains in Iranian people.