Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy.

BACKGROUND: Neurofibromatosis type I (NF1) is a genetic disorder characterized by the tumor's development in nerve tissue. Complications of NF1 can include pigmented lesions, skin neurofibromas, and heart problems such as cardiomyopathy. In this study, we performed whole-exome sequencing (WES) on an Iranian patient with NF1 to identify the genetic cause of the disease. METHODS: Following clinical assessment, WES was used to identify genetic variants in a family with a son suffering from NF1. No symptomatic manifestations were observed in other family members. In the studied family, in silico and segregation analysis were applied to survey candidate variants. RESULTS: Clinical manifestations were consistent with arrhythmogenic cardiomyopathy (ACM). WES detected a likely pathogenic heterozygous missense variant, c.3277G > A:p.Val1093Met, in the NF1 gene, confirmed by PCR and Sanger sequencing. The patient's parents and brother had a normal sequence at this locus. CONCLUSIONS: Although there is no cure for NF1, genetic tests, such as WES, can detect at-risk asymptomatic family members. Furthermore, cardiac evaluation could also help these patients before heart disease development.

Pattern of inflicted injuries to motorcyclists referred to Hazrat-E-Rasoul Akram hospital in Tehran during 2015 - 2016.

INTRODUCTION: In recent years, road accidents have been one of the leading causes of death in Iran, with the majority of victims being motorcyclists. Accurate knowledge of the pattern of injuries to those injured is a strategy to reduce the consequences of these fatal accidents. The aim of this study was to investigate the pattern of injuries to motorcyclists. METHODS: The present study was a cross-sectional study that was performed in Rasoul Akram (PBUH) Educational and Medical Center in Tehran. The information was extracted from 500 hospital records of the patients admitted due to motorcycle accidents from September 2015 to September 2016, which was recorded in the data collection checklist. RESULTS: About 67.9% of the injured did not have head injuries and 32.0% of the sample group suffered head injuries. Out of 160 people from the head injury group, 7.2% have Abbreviated Injury Scale (AIS) index = 1 and 93.8% have AIS ≥ 2. A total of 82% of the injured had no neck injuries and 18.0% of the sample group had neck injuries. Of these, 72.2% had AIS = 1 and 17.8% had AIS ≥ 2. About 65.0% of the injured did not have facial injuries and 35.0% of the sample group suffered facial injuries. CONCLUSION: An accurate knowledge of the pattern of injuries to this group of injured, providing pre-hospital services, timely diagnosis and treatment and the use of corrective and effective factors, has an effective role in reducing the incidence and consequences of this deadly accident.

Effect of current pathway on mortality and morbidity in electrical burn patients.

INTRODUCTION: Electrical injury is relatively uncommon but it is a devastating form of thermal injury. The aim of this study is to analyze specific aspects of electrical injuries, especially the effect of current pathways on morbidity and mortality. METHOD: This descriptive-analytical study was performed on patients with electrical burns who were admitted to the Shahid Motahary Burn Center from April 2010 to March 2012. Demographic and clinical data including gender, age, length of hospital stay, total body surface area (TBSA), grading of burn, electrical voltage, inlet electrical mark, outflow electrical mark, current pathway, surgical procedures, and place of electrical burn have been gathered from medical records. The site of inlet and outlet of current on the body is divided into six groups: Rt (right) upper limb, Lt (left) upper limb, Rt lower limb, Lt lower limb, head and neck, and trunk. According to these sites, the current pathway is defined to seven groups. Data were analyzed with SPSS software, version 20. RESULTS: From 287 patients, 283 were men and 4 were women. The mean age was 30±12 years (range 1-71) and mean TBSA was 13.56±12.97% (range 1-100). There were 233 patients (81.2%) with passage of the electrical current through the body and 54 patients (18.8%) with flash burns. A total of 859 surgical procedures were performed on 232 patients. One hundred and eighteen amputations were performed in 83 patients. The most common inlet electrical marks were in Rt upper limb and the most common outlet electrical marks were in Lt lower limbs, and consequently, the most common pathway was upper limb to lower limb. CONCLUSIONS: Electrical injuries are mainly occupation-related injuries and in this research majority of injuries occurred outdoor by high voltage cables in young men. Thus the government should consider a distinct strategy for this group. Also it is observed that there were no significant differences in mortality and complications such as amputation between different pathways.