genetics
Atefeh Hassanzadeh; aliakbar jannatabadi; Abolfazl Rad
Volume 28, Issue 3 , May and June 2021, , Pages 373-378
Abstract
Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. ...
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Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. Because of these overlap symptoms, these syndromes are categorized as unknown and rare disease. High-through put technologies such as whole exome sequencing (WES) solved many of these unknown diseases. In this study, we used WES and introduced a family with SLS from Sabzevar – Khorasane Razavi- Iran. Materials and Methods: Using WES, we sequenced all exons and then analyzed the annotation file. We segregated variant in other family members to confirm the candidate gene using PCR and Sanger sequencing. Results: Our data showed that mutation in ALDH3A2 with c.943C>T pathogenic variant causes SLS syndrome in this family. Conclusion: The advent of WES improve the ability of diagnosis in a huge number of syndromes with overlap symptoms. Nonetheless, most of syndromes do not have a specific treatment and recognizing the cause of syndromes help to families to screen during pregnancies.
Nursing
akram Shamsabadi; mehdi jafarzade fakhar; Mohammad Hasan Rakhshani; aliakbar jannatabadi
Volume 25, Issue 1 , May and June 2018, , Pages 135-142
Abstract
Background: Administration of medications is an important part of treatment and care provided by nurses. Medication errors in nursing profession is one of the most common health care mistakes.One of the factors in the incidence of medication errors, job stress, so stress management and efficient use ...
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Background: Administration of medications is an important part of treatment and care provided by nurses. Medication errors in nursing profession is one of the most common health care mistakes.One of the factors in the incidence of medication errors, job stress, so stress management and efficient use of preventive methods necessary to appear. The aim of this study is to determine the effect of a Stress Inoculation training on the medication error of nurses. Materials and methods: The present research is, a field trial controlled study.The population included 100 nurses in medical, surgical and pediatric hospitals constitute Sabzevar University of Medical Sciences. Nurses are selected using quota sampling permutation blocks were divided into two groups.The intervention group, stress inoculation training (workshop 2 days 8 hours a week) was conducted.The data collecting by a researcher-made forms of occupational demographic information and registration forms medication errors,during the two stage, one months before and one and a half months after the intervention was completed by both groups. Data were analyzed by means of SPSS-11/5 and SAS 9.1 statistical software using descriptive statistics, Mann-Whitney, Chi-square, Fisher, T test and generalized estimation equations. Results:The mean and standard deviation of medication errors in the intervention group before stress inoculation training 5/65 ± 2/30 and a half months was 2/68 ± 1/57. Analysis of data between the mean medication errors samples before and after the intervention groups showed significant differences (P<0/05). Conclusion:Stress inoculation training can reduce the incidence of medication errors.