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Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a broad spectrum of clinical symptoms such as retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability, and hypogonadism. The understanding of the variants involved in BBS-causing genes remains incomplete, highlighting the need for further research to develop a molecular diagnostic strategy for this syndrome. Singleton whole-exome sequencing (WES) was performed on sixteen patients. Our study revealed (1) nine patients carried eight homozygous pathogenic variants with four of them being novel (2) Specifically, a synonymous splicing variant (c.471G > A) in BBS2 gene in six patients with Baloch ethnicity. The identification of runs of homozygosity (ROH) calling was performed using the BCFtools/RoH software on WES data of patients harboring c.471G > A variant. The presence of shared homozygous regions containing the identified variant was confirmed in these patients. In-silico analysis predicted the effect of the c.471G > A variants on BBS2 mRNA splicing. This variant results in disrupted wild-type donor site and intron retention in the mature mRNA. (3) And a deletion of exons 14 to 17 in the BBS1 gene was identified in one patient by Copy-Number Variation (CNV) analysis using the ExomeDepth pipeline. Our results identified the founder variant c.471G > A in the BBS2 gene in the Baloch ethnicity of the Iranian population. This finding can guide the diagnostic approach of this syndrome in future studies.
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BACKGROUND: Changes in lifestyle and eating habits have put women at risk of obesity and overweight more than ever. This aim of this study was to investigate the effect of Pender's Health Promotion Model (HPM) to improve the nutritional behavior of overweight and obese women admitted to Fatemiyeh Hospital clinics in Hamadan, west Iran in 2015. METHODS: In this quasi-experimental study, 108 eligible women were selected and randomly assigned to two groups: one experimental and one control. Data were gathered using three questionnaires: demographics, Pender's HPM constructs, and nutritional behavior. The questionnaires were filled out by both groups as pre-test and two months later. A Pender's HPM-based intervention was conducted for the experimental group. The data were analyzed by paired and independent t-tests, ANCOVA, and Spearmans' correlation coefficient in SPSS/16. The level of significance was considered to be <0.05. RESULTS: The mean score of nutritional behavior was 41.75±3.28 and 42.36±3.69 before the intervention and 79.09±5.27 and 49.72±9.49 after it in the experimental and control groups, respectively. The difference was significant only between before and after the intervention in the experimental group (P<0.001). Furthermore, the mean scores of the following variables were significantly different between before and after the intervention in the experimental group: nutritional behavior, perceived benefits, perceived self-efficacy, commitment to action, interpersonal and situational influences, behavior-related affect, and perceived barriers (P<0.001). CONCLUSION: The results showed that Pender's HPM-based training improved nutritional behavior and some constructs of the model. Therefore, this educative model can be used by healthcare providers to improve the nutritional and other health promoting behaviors.
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BACKGROUND: Urinary catheterization is one of the main measures used to treat and care for hospitalized patients. Several complications have been attributed to the presence of latex with routine Foley catheters. Therefore, some studies have recommended that Nelatone catheters be substituted for the ordinary Foley catheters to prevent these complications. OBJECTIVES: This study aimed to compare the rates of urinary tract infection (UTI) in rabbits catheterized either with Foley or with Nelatone catheters. MATERIALS AND METHODS: A randomized controlled trial was conducted on 60 rabbits that were randomly assigned to three groups of twenty. The first group was catheterized using Nelatone catheter; the second group was catheterized using Foley catheter and the third group was studied without performing any catheterization. After seven days, urine samples were collected using suprapubic aspiration and were sent to the laboratory for culture. Descriptive statistics were calculated. Moreover, chi-square and Fisher's exact tests were used for data analysis. RESULTS: At the end of the study, four cases in the Nelatone group and 12 cases in the Foley group presented with UTI (P = 0.01). No positive urine cultures were found in the control group. CONCLUSIONS: The Nelatone catheters, compared with the Foley ones, had a lower risk of UTI in the long term use. Verifying this claim by further studies can have an important role in reducing UTIs in patients using urinary catheters.
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BACKGROUND: Despite all progresses in surgical science, bleeding caused by traffic accidents is still a challenge for surgeons to save patients' lives. Therefore, introducing an effective method to control external bleeding is an important research priority. OBJECTIVES: This study aimed to compare haemostatic effect of zinc chloride and simple suturing to control external bleeding. MATERIALS AND METHODS: In this animal model study, 60 male Wistar rats were used. An incision (two cm in length and half a cm in depth) was made on shaved back of rats. The hemostasis time was measured once using zinc chloride with different concentrations (5%, 10%, 15%, 25%, and 50%) and then using simple suturing. Skin tissue was assessed for pathological changes. Due to abnormal distribution of variables in Kolmogorov-Smirnov test, the data was analyzed using Kruskal-Wallis test Mann-Whitney U tests. RESULTS: In all the groups, complete hemostasis occurred. Hemostasis times of different concentrations of zinc chloride were significantly less than that of the control group (P < 0.001). CONCLUSIONS: Zinc chloride was effective to control external bleeding in rats.
