Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...

Background and Objectives: Dietary diversity is a proxy measurement of overall dietary quality. The aim of this study was to assess relationships between dietary diversity score and obesity phenotypes in women, Tehran, Iran. Materials and Methods: In this cross-sectional study, 197 women aged ≥ 25 years from Municipal District 7 of Tehran were participated. Food intakes were calculated using s...

Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a 2-year-old affected girl, characterized by mental retardation, dys...

despite the fact that higher bmi is a risk factor for, wheeze ever, wheeze and dyspnea in the last 12 months, and diagnosed asthma, higher bmi is not a risk factor for obstructive pattern in pulmonary function test. chronic mucocutaneous candidiasis (cmcc) refers to a group of immunodeficiencies, characterized by persistent or recurrent infections of the skin, nails, and mucus membranes caused ...

This review summarizes the current understanding of phenotypes (clinical manifestations) atopic dermatitis (AD) based on morphological and some laboratory diagnostic tools (total IgE level, sensitization status, filaggrin mutations). The author gives a chronology study AD phenotypes, including use modern statistical methods (clusters). Recent studies have described unique in patients with colon...