Inflammatory bowel diseases (IBDs) are immune mediated diseases affecting the gastrointestinal tract. Several environmental factors in concert with genetic susceptibilities can trigger IBDs. Recently, one of the important environmental factors contributing to the development of autoimmune diseases is vitamin D (VitD) deficiency. Furthermore, some new evidence points to VitD deficiency and its receptor dysfunction as an underlying factor for the emergence experimental IBDs. The aim of the current study was to evaluate the correlation between serum 25(OH)D concentrations and IBD activity in patients with ulcerative colitis or Crohn’s disease. Sixty patients with confirmed diagnosis of IBD were recruited for a cross sectional study. Most of the identified confounders affecting serum VitD concentrations were excluded. Disease activity was assessed using validated questionnaires, including Truelove for Ulcerative Colitis and Crohn Disease Activity Index (CDAI) for Crohn disease. Serum 25(OH)D concentrations were determined by chemiluminescent assay. Serum 25(OH)D≤10 (ng/ml) was considered as VitD deficiency and 11≤25(OH)D<29(ng/ml) as VitD insufficiency. Mean serum 25(OH)D value was 13.1 ± 11.1(ng/ml) in IBD patients. Almost 95% of patients were vitamin D insufficient or deficient. Forty one percent of IBD patients had active disease. VitD deficiency was not associated with IBD activity (p=0.23). However, VitD deficiency was significantly associated with a history of IBD related intestinal surgery (p=0.001). In conclusion, this cross-sectional prospective study suggested that there is no association between vitamin D deficiency and disease activity in a relatively small number of IBD patients in a short period of time.

BACKGROUND AND OBJECTIVES: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. SUBJECTS AND METHODS: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). RESULTS: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p < 0.001). CONCLUSIONS: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.
Cohort Studies ; Connexins ; DNA ; Genetic Association Studies ; Genotype ; Hearing Loss ; Hearing ; Humans ; Iran ; Microsatellite Repeats

PURPOSE: Trauma has been called the neglected disease of modern society. According to WHO, fall is the second major cause of trauma or deaths resulting from unintentional accidents. The aim of this study was to investigate the different types of fall according to International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) in hospitalized patients visiting specialized accident and trauma hospitals of Mashhad, Iran. METHODS: This was a cross sectional retrospective study performed between March 20, 2013 and March 20, 2014. The research population consisted of all medical records of patients for fall injuries in three specialized accident and trauma hospitals. ICD-10 was adopted to categorize all types of falls (w00-w19). The results obtained were analyzed by SPSS 16. RESULTS: Altogether 7,448 cases were included. The codes w18 (fall on same level) and w09 (fall involving playground equipment) with the frequencies of 1,856 and 1,303, respectively in both genders had the maximum number of falls. The maximum percentage of mortality has been related to "fall on and from ladder"," fall from cliff "and "fall on same level involving ice and snow". CONCLUSION As falls can cause irrecoverable injuries including mortality of people, thus health authorities and policymakers should take preventive measures given the causes of falls and the root of this type of injuries, so that the costs resulting from this cause and its injuries can be reduced.