Search results for " Humans"
showing 10 items of 2466 documents
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
2013
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.
A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome
2010
Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047).…
Urinary incontinence and quality of life: a longitudinal analysis from the English Longitudinal Study of Ageing
2022
Objectives-\ud To explore the longitudinal association between urinary incontinence (UI) and quality of life (QoL) in the English Longitudinal Study on Ageing, a large study of older UK adults with ten years of follow-up.\ud Study design-\ud Cohort study.\ud Main outcomes interest-\ud To determine the presence of UI, participants reported whether they had lost urine beyond their control in the last 12 months. Participants also reported whether UI lasted more than one month, indicating a more chronic problem. QoL was measured using the CASP (control, autonomy, self-realisation and pleasure)-19, with higher values indicating a higher QoL.\ud Results-\ud Of the 8028 participants (mean age: 65.…
In-hospital death and adverse clinical events in elderly patients according to disease clustering: The REPOSI study
2010
OBJECTIVE: The aim of the study was to recognize clusters of diseases among hospitalized elderly and to identify groups of patients at risk of in-hospital death and adverse clinical events according to disease clustering. METHOD: This was a cross-sectional study conducted in 38 internal medicine and geriatric wards in Italy participating in the Registro Politerapie SIMI (REPOSI) study during 2008. The subjects were 1,332 inpatients aged 65 years or older. Clusters of diseases (i.e., two or more co-occurrent diseases) were identified using the odds ratios (OR) for the associations between pairs of conditions, followed by cluster analysis. Logistic regression models were used to evaluate the …
Association between food insecurity and fall-related injury among adults aged ≥65 years in low- and middle-income countries: The role of mental healt…
2021
Purpose:\ud \ud We investigated the association between food insecurity and fall-related injury among older adults from six low- and middle-income countries (LMICs), and the extent to which this association is mediated by mental health.\ud \ud Methods:\ud \ud Cross-sectional, community-based, nationally representative data from the WHO Study on global AGEing and adult health (SAGE) were analyzed. Past 12-month food insecurity was assessed with two questions on frequency of eating less and hunger due to lack of food. Fall-related injury referred to those that occurred in the past 12 months. Multivariable logistic regression analysis and mediation analysis were conducted to assess association…
Echocardiographic reference ranges for normal cardiac Doppler data: results from the NORRE Study
2015
International audience; AIMS: Reference values for Doppler parameters according to age and gender are recommended for the assessment of heart physiology, specifically for left ventricular (LV) diastolic function. In this study, we report normal reference ranges for Doppler parameters obtained in a large group of healthy volunteers. Echocardiographic data were acquired using state-of-the-art cardiac ultrasound equipment following Doppler acquisition and measurement protocols approved by the European Association of Cardiovascular Imaging. METHODS AND RESULTS: A total of 449 (mean age: 45.8 ± 13.7 years) healthy volunteers (198 men and 251 women) were enrolled at the collaborating institutions…
Concerning mistreatment of older people: clinical and ethical thoughts based on a study of known cases.
2006
International audience; Following a report by the Health Ministry recommending a greater implication of general practitioners (GP) in the diagnosis and care of mistreated older people, we wanted to evaluate what was actually their role in this matter. A study was made of files of mistreated older persons referred to the social services in a Parisian suburb. For each file, we noted who raised the first suspicions of mistreatment, who diagnosed it, what happened next, and what precisely the GP's role was. Out of 600 files, we found 12 cases, concerning 14 persons (two couples). Although all the patients had health problems requiring frequent consultations with their GP, none of these situatio…
Age-related differences in a delayed pointing of a M�ller-Lyer illusion
2003
It has been suggested that movements to visible or remembered targets are differently sensitive to the Müller-Lyer (ML) illusion. Indeed, when the target is continuously visible, movements rely on the veridical object characteristics, whereas remembered movements are thought to reflect the perceived characteristics of the object. The aim of the present study was to determine how movements to visible or remembered targets are influenced by the ML illusion in children aged 7 to 11 years old. Participants were asked to make a perceptual judgment or to point a shaft extremity of the ML configurations (Closed, Control, and Open) in three visual conditions (Closed Loop, Open Loop-0-s delay, and 5…
Muscular performances at the ankle joint in young and elderly men.
2005
The effect of aging on mechanical and electromyographic characteristics of ankle joint muscles was investigated in 11 young (mean age 24 years) and 12 elderly (mean age 77 years) males. Maximal and submaximal isometric voluntary torques were measured during ankle plantarflexion and dorsiflexion. Electromyographic activities of triceps surae and tibialis anterior muscles were recorded. The elderly group developed equal maximal dorsiflexion torques (42 vs 45 N.m, p >.05), but in plantarflexion, the elderly group was weaker (80 vs 132 N.m, p <.001) and presented a decreased twitch amplitude (11 vs 16 N.m) and lower coactivation (8% vs 15%) than that of the young adults. We established a linear…
Is the Mean Blood Leukocyte Telomere Length a Predictor for Sporadic Thoracic Aortic Aneurysm? Data from a Preliminary Study
2012
Telomeres have been postulated as a universal clock that shortens in parallel with cellular aging. They are specialized DNA-protein structures at the ends of chromosome with remarkable functions--preventing their recognition as double-stranded DNA breaks, protecting their recombination and degradation, and avoiding a DNA damage cellular response. Telomere shortening is currently considered the best aging marker, but is also a predictor for age-related diseases, including cardiovascular diseases. Biological age clearly seems to be a better predictor of vascular risk rather than chronological age. This concept is supported by key assumptions that peripheral blood leukocyte telomere content ac…