Disease-modifying effects of an structural variant in a predominantly ALS cohort.

Objective: To test the hypothesis that rs573116164 will have disease-modifying effects in patients with superoxide dismutase 1 () familial amyotrophic lateral sclerosis (fALS), we characterized rs573116164 within a cohort of 190 patients with fALS and 560 healthy age-matched controls to assess the variant for association with various measures of disease.

Methods: Using a previously described bioinformatics evaluation algorithm, a polymorphic short structural variant associated with was identified according to its theoretical effect on gene expression. An 12-18 poly-T repeat (rs573116164) within the 3' untranslated region of serine and arginine rich proteins-related carboxy terminal domain associated factor 4 (), a gene that is adjacent to , was assessed for disease association and influence on survival and age at onset in an fALS cohort using PCR, Sanger sequencing, and capillary separation techniques for allele detection.

'Researchers have love for life': opportunities and barriers to engage pregnant women in malaria research in post-Ebola Liberia.

Background: Adoption of prevention and therapeutic innovations to ensure that National Malaria Control Programmes meet their incidence reduction targets is highly dependent on the conduct of rigorous clinical trials. In Liberia, malaria control virtually halted during the recent Ebola epidemic, and could enormously benefit from innovations to protect its most vulnerable populations, including pregnant women, against malaria. Health policy-planners could feel more inclined to adopt novel interventions with demonstrated safety and efficacy when trialled among their women population.

Characterization of and allele frequencies in the Japanese population.

Introduction: Dementia is one of the major health threats to our aging society, and Alzheimer's disease (AD) is the leading cause. In Japan, ∼15% of the elderly population has dementia. The apolipoprotein E () genotype and a polymorphism (rs10524523) in the translocase of outer mitochondrial membrane 40 () gene have been associated with the age of onset of AD.

Lower limbs venous compression reduces the incidence of maternal hypotension following epidural analgesia during term labor.

Objective(s): Every year in France, 10% to 20% of the 600 000 women given epidural analgesia during labor experience hypotension, which in 15% of cases is associated with fetal heart rate abnormalities. The efficiency of lower limbs venous compression in preventing the occurrence of maternal hypotension after neuraxial anesthesia has already been demonstrated, but only in the context of scheduled cesarean section. We assessed the preventive effect of medical lower limbs venous compression on the incidence of maternal hypotension after epidural analgesia during spontaneous term labor.