Search results for "Repo"
showing 10 items of 2753 documents
ATXN2 trinucleotide repeat length correlates with risk of ALS
2017
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carry…
Cavernous haemangioma of the external auditory canal: clinical case and review of the literature.
2010
SUMMARY Although benign vascular lesions are frequent in the head and the neck region, clinical evidence of cavernous haemangioma of the external auditory canal is extremely rare; when present, the lesion invades the middle ear space. Herein, a rare case of a soft mass filling the external auditory canal, not involving the tympanic membrane, in a symptomatic 59-year-old male is described. Clinical and audiological characteristics, imaging studies and surgical treatment with histological evaluation are reported, which led to a diagnosis of a cavernous haemangioma. This is only the seventh case described in the literature, to date, not involving the tympanic membrane and the middle ear space.…
Regional anticoagulation with heparin of an extracorporeal CO2 removal circuit: a case report
2019
Abstract Background Extracorporeal carbon dioxide removal is an increasingly used respiratory support technique. As is true of all extracorporeal techniques, extracorporeal carbon dioxide removal needs proper anticoagulation. We report a case of a patient at risk of bleeding complications who was treated with extracorporeal carbon dioxide removal and anticoagulated with a regional technique. Case presentation A 56-year-old Caucasian man with a history of chronic obstructive pulmonary disease exacerbation required extracorporeal carbon dioxide removal for severe hypercapnia and acidosis despite mechanical ventilation. The extracorporeal circuit was anticoagulated using a regional heparin tec…
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
2013
Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies. ALDH1A3 is a key enzyme in the…
Acitretin, an Enhancer of Alpha-Secretase Expression, Crosses the Blood-Brain Barrier and Is Not Eliminated by P-Glycoprotein
2011
<i>Background:</i> ADAM10 (a disintegrin and metalloproteinase 10) has been demonstrated to act as the main physiological α-secretase. Enzymatic activity of the α-secretase on the one hand prevents the formation of toxic Aβ peptides and on the other hand promotes the secretion of a neurotrophic and neuroprotective amyloid precursor protein fragment (APPs-α) by cleaving the amyloid precursor protein within its Aβ sequence. Enhancement of ADAM10’s gene expression may therefore present a valuable therapeutic approach for the treatment of Alzheimer’s disease (AD), where Aβ peptides are severely involved in the pathogenesis. <i>Objective:</i> In cell culture and in a tran…
Mobility Modification Alleviates Environmental Influence on Incident Mobility Difficulty among Community-Dwelling Older People: A Two-Year Follow-Up …
2016
Background Environmental barriers increase risk for mobility difficulties in old age. Mobility difficulty is preceded by a phase where people try to postpone a difficulty through mobility modification. We studied whether perceived environmental mobility barriers outdoors correlate with mobility modification and mobility difficulty, predict development of mobility difficulty over a two-year follow-up, and whether mobility modification alleviates the risk for difficulty. Methods At baseline, 848 people aged 75–90 were interviewed face-to-face. Telephone follow-up interviews were conducted one (n = 816) and two years (n = 761) later. Environmental barriers to mobility were self-reported using …
Leisure‐time physical activity and participation in organized sports: Changes from 1985 to 2014 in Finland and Norway
2019
Participation in organized sports is a popular and important part of the lives of children and adolescents and is associated with improved psychological and social health, as well as an increased likelihood of meeting physical activity (PA) recommendations. Changes in modern society, including increased car ownership and use of technology and electronic media, have led to an additional focus on the importance of health‐enhancing PA among children and adolescents. The aim of this article was to study the secular changes in self‐reports of participation in organized sports clubs and leisure‐time vigorous physical activity (LVPA), and whether the relationship between participation in organized…
Predicting perceived health in Angolan elderly: The moderator effect of being oldest old
2012
The objective of this study was to test the predicting effects of variables measuring social support, dependence/active perceptions, and generativity, on this facet of well-being when controlled for socio-demographic variables (age, gender, marital status, and institutionalization). The research tries to extend previous literature by assessing them in a multivariate context, studying differential effects of these variables in young old and oldest old, and offering evidence of the scarcely studied population of Angola. The sample was formed by 737 young old and 266 oldest old. It was built a hierarchical regression, in which, among the different predictors, interactions effects between age a…
Self-reported hearing difficulties and changes in life-space mobility among community-dwelling older adults: a Two-year follow-Up study
2015
Background Life-space mobility reflects individuals’ actual mobility and engagement with society. Difficulty in hearing is common among older adults and can complicate participation in everyday activities, thus restricting life-space mobility. The aim of this study was to examine whether self-reported hearing predicts changes in life-space mobility among older adults. Methods We conducted a prospective cohort study of community-dwelling older adults aged 75–90 years (n = 848). At-home face-to-face interviews at baseline and telephone follow-up were used. Participants responded to standardized questions on perceived hearing at baseline. Life-space mobility (the University of Alabama at Birmi…
Changes in life-space mobility and quality of life among community-dwelling older people: a 2-year follow-up study
2016
Purpose Life-space mobility refers to the spatial area in which a person moves in daily life, taking into account distance, frequency and assistance needed. The aim was to examine how changes in life-space mobility are associated with changes in quality of life (QOL) over a 2-year period. Methods Community-dwelling people aged 75–90 years (n = 848) were interviewed face-to-face in their homes and followed up annually for 2 years. QOL was assessed with the short version of the World Health Organization QOL assessment (range 0–130, higher scores indicate better QOL). Life-space mobility was assessed with the Life-Space Assessment (range 0–120, higher scores indicate better life-space mobility…