Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy

Introduction

Arrhythmogenic right ventricular cardiomyopathy is an inherited disease characterized by a progressive myocardium fibrofatty replacement. This abnormality disrupts electrical transmission causing ventricular arrhythmias and sudden cardiac death. This genetic disease is transmitted mainly with an autosomal dominant pattern. Our aim was to identify the genetic defect responsible for the pathology in a Spanish family, and to perform its phenotype connotations.

Material and methods

A total of 15 individuals in a three-generation Spanish family were screened after the sudden cardiac death of one family member. All they underwent a complete physical examination, 12-lead electrocardiogram, 2-dimensional echocardiography, magnetic resonance imaging, exercise stress test, 24-h Holter and genetic testing.

Results

Autopsy revealed the presence of biventricular arrhythmogenic dysplasia in deceased member. Six family members showed clinical symptoms but only three of them fulfilled definite diagnostic criteria of the disease. Genetic analysis showed a novel nonsense genetic variation in nine family members. All family members with clinical symptoms carried the genetic variation.

Conclusions

Genetic testing in families affected by arrhythmogenic right ventricular cardiomyopathy helps to identify the genetic cause responsible for the disease. The incomplete penetrance and variable phenotypic expression highlights the need of comprehensive genetic analysis and further phenotype implications of genetics to clarify the pathophysiology of the disease.     

Recent Advances in the Epidemiologic Investigation of Risk Factors for Asthma: A Review of the 2011 Literature

The present review aims to identify and summarize epidemiologic investigations published during 2011 on the environmental risk factors for asthma. Potentially eligible papers were identified by a MEDLINE search. In total, 1,130 items were retrieved. Based on a broad definition of environment, the following topics were included: obesity, diet, vitamin D, air pollution, farming environment, and social factors. Some of the more relevant contributions included evidence that 1) obesity precedes asthma, 2) fruit consumption is longitudinally associated with a lower risk of asthma and atopy, 3) a comprehensive statewide smoking ban was followed by a reduction in hospital admissions for asthma, 4) asthma is one of the diseases showing the largest burdens due to environmental tobacco smoke, 5) traffic-related urban air pollution is associated with bronchial inflammation as measured by fractional exhaled nitric oxide and uncontrolled asthma, 6) aeroallergens and desert dust may contribute to the short-term effects of air pollution and asthma, and 7) maternal exposure to air pollution before and during pregnancy may alter the immune competence in offspring.     

Evaluation of health-related quality of life in patients candidate for spine and other musculoskeletal surgery

Introduction

Despite the high prevalence of musculoskeletal diseases, in Spain there are few data about how these conditions affect the quality of life of individuals. The objective of this study was to assess the quality of life (QOL) of patients candidate for orthopedic surgical treatment using an age–gender adjusted method of QOL scores.

Materials and methods

The SF-36 Health Survey was administered to 538 patients candidate for surgery between surgical treatment was classified in four groups (lumbar disease, cervical disease, knee arthroplasty, and hip arthroplasty). Associated morbidities were collected retrospectively for all cases using the Charlson co-morbidity index. Univariate, bivariate, and multivariate statistical analyses were done to compare the four groups to each other, to the general population mean, and to the age and gender-adjusted population mean.

Results

234 men and 304 women whose mean age was 58.78 years (19–89) were assessed. Patients candidate for some kind or lumbar surgery had the worst scores in all physical and mental scales as compared to the other disease groups. Patients candidate for knee arthroplasty, had the best quality of life scores in all scales, compared to the other disease groups. Medical conditions had no influence over the summary measures.

Conclusion

Presenting the results of SF-36 in standard deviations from the age- and gender-adjusted population mean (T values) leads to a better appreciation of the differences between the various diseases. Patients candidate for surgery of the lumbar spine had a worse QOL, while the QOL in patients candidate for knee arthroplasty was the least affected.     

Weight-Related Quality of Life in Spanish Obese Subjects Suitable for Bariatric Surgery is Lower Than in Their North American Counterparts: a Case–Control Study

Background

Obesity impairs quality of life, but the perception of the impairment could be different from one country to another. The purpose was to compare weight-related quality of life (QOL) between cohorts from Spain and North America.

Methods

A cross-sectional case–control study was performed between two populations. Four hundred Spanish and 400 North American obese subjects suitable for bariatric surgery closely matched for race, gender, age, and body mass index (BMI) were included. Two non-obese control groups matched for gender, age, and BMI from each population were also evaluated (n?=?400 in each group). The participants completed the Impact of Weight on Quality of Life—Lite (IWQOL—Lite) questionnaire, a measure of weight-related QOL.

Results

Spanish morbidly obese patients showed poorer QOL than their North American counterparts in physical function, sexual life, work, and total score. By contrast, Spanish non-obese control subjects reported better QOL in all domains than their North American counterparts. Women, both in Spain and North America, reported reduced QOL compared to men on the domain of self-esteem. In addition, North American women reported reduced QOL on the sexual life domain compared to men. BMI correlated negatively with all domains of QOL except for self-esteem in both national groups.

Conclusions

Spanish obese subjects suitable for bariatric surgery report poorer weight-related quality of life than their North American counterparts, and obese women, regardless of nationality, perceive a reduced quality of life compared to men.