Is MED13L-related intellectual disability a recognizable syndrome?

Introduction

MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients.

Combined sciatic-paravertebral nerve block vs. general anaesthesia for fractured hip of the elderly

Sixty elderly patients scheduled for surgical hip fracture repair were given the choice of either general isoflurane anaesthesia (n = 30) or a nerve stimulator guided combined sciatic-paravertebral nerve block (n = 30). The incidence of intraoperative hypotension and the need for postoperative admission to the intensive care unit/high dependency unit (ICU/HDU) within 48 hours postoperatively were recorded. No differences in patient characteristics, ASA class or concomitant disease status were detected between the two study groups. Both the incidence of intraoperative hypotension (0/30 vs. 11/30, p < 0.001) and the postoperative need for ICU/HDU admission (0/30 vs. 11/30, p < 0.001) was significantly reduced in patients treated with a combined sciatic-paravertebral nerve block compared to patient receiving general anaesthesia. The length of hospital stay was also found to be shorter for patient in the regional anaesthesia group [mean 6.7 days (SD 2.3) vs. 13.6 days (SD 6.1)]. The described technique appears to be an attractive alternative method to handle proximal fractures of the femur in the elderly, especially in a situation with limited ICU/HDU availability.     

Helicobacter pylori and the prevention of gastric cancer.

BACKGROUND: Helicobacter pylori is an important cause of stomach cancer that infects a substantial proportion of the Canadian adult population. H pylori can be detected by noninvasive tests and effectively eradicated by medical treatment. Screening for and treatment of H pylori may represent a significant opportunity for preventive oncology. METHODS: Cancer Care Ontario organized a workshop held in Toronto, Ontario, on October 24 and 25, 2002, to: review the current state of knowledge regarding H pylori treatment and cancer prevention; determine if there is currently sufficient evidence to consider the promotion of H pylori treatment for the purpose of cancer prevention; identify critical areas for research; and advise Cancer Care Ontario on H pylori and cancer prevention. RESULTS: Workshop participants developed a number of recommendations for research into the relationship between H pylori and stomach cancer, including determining the prevalence of infection in different regions of Canada, the pathogenetic sequence of carcinogenesis from H pylori infection, and the implementation of a prospective observational study. INTERPRETATION: Although the rate of H pylori infection is declining in Canada and the treatment of H pylori is generally accepted to be safe, the evidence to date may not warrant the implementation of population screening for H pylori infection to prevent gastric carcinoma in average-risk populations. Rather, a demonstration project is needed to estimate prevalence, evaluate the merits of screening, measure patient compliance and physician participation, develop education materials, establish a registry for monitoring and evaluation, and develop a quality assurance framework.     

Lifestyle Patterns Are Associated with Elevated Blood Pressure among Qatari Women of Reproductive Age: A Cross-Sectional National Study

Women of childbearing age are particularly vulnerable to the adverse effects of elevated blood pressure (BP), with dietary and lifestyle habits being increasingly recognized as important modifiable environmental risk factors for this condition. Using data from the National STEPwise survey conducted in Qatar in year 2012, we aimed to examine lifestyle patterns and their association with elevated BP among Qatari women of childbearing age (18–45 years). Socio-demographic, lifestyle, dietary, anthropometric and BP data were used (n = 747). Principal component factor analysis was applied to identify the patterns using the frequency of consumption of 13 foods/food groups, physical activity level, and smoking status. Multivariate logistic regression analyses were used to evaluate the association of the identified lifestyle patterns with elevated BP and to examine the socio-demographic correlates of these patterns. Three lifestyle patterns were identified: a “healthy” pattern characterized by intake of fruits, natural juices, and vegetables; a “fast food & smoking” pattern characterized by fast foods, sweetened beverages, and sweets, in addition to smoking; and a “traditional sedentary” pattern which consisted of refined grains, dairy products, and meat in addition to low physical activity. The fast food & smoking and the traditional & sedentary patterns were associated with an approximately 2-fold increase in the risk of elevated BP in the study population. The findings of this study highlight the synergistic effect that diet, smoking and physical inactivity may have on the risk of elevated BP among Qatari women.     

Workplace bullying and violence as risk factors for type 2 diabetes: a multicohort study and meta-analysis

Aims/hypothesis

The aim of this multicohort study was to examine whether employees exposed to social stressors at work, such as workplace bullying and violence, have an increased risk of type 2 diabetes.

Methods

The study included 45,905 men and women (40–65 years of age and free of diabetes at baseline) from four studies in Sweden, Denmark and Finland. Workplace bullying and violence were self-reported at baseline. Incident diabetes was ascertained through national health and medication records and death registers. Marginal structural Cox models adjusted for age, sex, country of birth, marital status and educational level were used for the analyses.

Results

Nine per cent of the population reported being bullied at work and 12% were exposed to workplace violence or threats of violence. Bullied participants had a 1.46 (95% CI 1.23, 1.74) times higher risk of developing diabetes compared with non-bullied participants. Exposure to violence or threats of violence was also associated with a higher risk of diabetes (HR 1.26 [95% CI 1.02, 1.56]). The risk estimates attenuated slightly when taking BMI into account, especially for bullying. The results were similar for men and women, and were consistent across cohorts.

Conclusions/interpretation

We found a higher risk of incident type 2 diabetes among employees exposed to bullying or violence in the workplace. Further research is needed to determine whether policies to reduce bullying and violence at work may reduce the incidence of type 2 diabetes in working populations. Research on the mechanisms is also highly warranted.

     

Are There Differences in Arteriovenous Fistulae Created for Hemodialysis between Nephrologists and Vascular Surgeons?

ObjectiveMany studies have reported insufficient support from surgical services, resulting in nephrologists creating arteriovenous fistulas in many centers. The aim of this study was to compare risk factors of arteriovenous fistula dysfunction in patients whose fistulas were created by nephrologists versus vascular surgeons.MethodsThis was a retrospective, analytical study of interventions by nephrologists and vascular surgeons during a period of 15 years. Out of a total of 1,048 fistulas, 764 (72.9%) were created by nephrologists patients, while vascular surgeons were responsible for 284 (27.1%) fistulae. Laboratory, demographic, and clinical parameters which might affect functioning of these arteriovenous fistulae were analyzed.ResultsPatients whose arteriovenous fistula was formed by nephrologists differed significantly from those created by vascular surgeons in relation to the preventive character of the arteriovenous fistula (p = 0.011), lumen of the vein (p < 0.001) and systolic blood pressure (p = 0.047). Multivariate logistic regression of arteriovenous fistula dysfunction showed that risk factors were female gender (odds ratio [OR] = 1.56, 95% CI 1.16–2.07), whether the fistulae were created by vascular surgeons or nephrologists (OR = 1.38; 95% CI 1.01–1.89) and the site of the arteriovenous fistula (OR = 0.64; 95% CI 0.48–0.85).ConclusionsArteriovenous fistulae created by vascular surgeons, female gender, and the location are risk factors of dysfunction.