Search results for "OF-THE-LITERATURE"
showing 5 items of 5 documents
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
2017
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo …
A blunted diurnal cortisol response in the lower educated does not explain educational differences in coronary heart disease: Findings from the AGES-…
2015
Lower educational attainment generally is a strong predictor of coronary heart disease (CHD). The underlying mechanisms of this effect are, however, less clear. One hypothesis is that stress related to limitations imposed by lower socioeconomic status elicits changes in hypothalamic-pituitary-adrenal axis functioning, which, in turn, increases risk of CHD. In a large cohort study, we examined whether educational attainment was related to risk of fatal and non-fatal CHD and the extent to which salivary cortisol mediated this relation independent of potential confounders, including lifestyles. Data came from 3723 participants aged 66 through 96 from the Age, Gene/Environment Susceptibility (A…
Risk factors in iatrogenic spinal cord injury
2017
Study design: In the last years, there has been a change in the aetiology of spinal cord injury. There has been an increase in the number of elderly patients with spinal cord injuries caused by diseases or medical procedures. Objective: The aim of this study is to investigate the frequency of the occurrence of iatrogenic spinal cord injury in our unit. The secondary aim is to study what variables can be associated with a higher risk of iatrogenesis. Methods: A retrospective, descriptive, observational study of patients with acute spinal cord injury admitted from June 2009 to May 2014 was conducted. The information collected included the patient age, aetiology, neurological level and grade o…
Fluid challenges in intensive care: the FENICE study: a global inception cohort study
2015
Background: Fluid challenges (FCs) are one of the most commonly used therapies in critically ill patients and represent the cornerstone of hemodynamic management in intensive care units. There are clear benefits and harms from fluid therapy. Limited data on the indication, type, amount and rate of an FC in critically ill patients exist in the literature. The primary aim was to evaluate how physicians conduct FCs in terms of type, volume, and rate of given fluid; the secondary aim was to evaluate variables used to trigger an FC and to compare the proportion of patients receiving further fluid administration based on the response to the FC. Methods: This was an observational study conducted i…
A century of trends in adult human height
2016
Article