Search results for "exam"
showing 10 items of 1241 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.
FUS MUTATIONS IN SPORADIC AMYOTROPHIC LATERAL SCLEROSIS: CLINICAL AND GENETIC ANALYSIS
2012
Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patients carrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic position have been observed in 2 pati…
Multidimensional health assessment of 75- and 80-year-old men and women: a five-year prospective study.
2003
Background and aims: There are no earlier reports of regular multidimensional health check programs in elderly people. The aim of this study was to establish the number and type of previously unrecognized health conditions in two cohorts of elderly people examined twice during a 5-year period, and to determine how these conditions were subsequently evaluated and treated. Methods: This population-based study, carried out at a university research center in Finland, consisted of a multidimensional and multiphased health assessment including interviews, health questionnaires and medical examinations and tests, and follow-up of subsequent examinations and treatment. Participants were all 75- (N=…
Absent pedal pulse and impaired balance in older people: a cross-sectional and longitudinal study
2006
Background and aims: The purpose of this study was to determine the relationship between abnormal pedal pulse status and postural balance in older people. Methods: Prospective, population-based cohort study of older residents in the city of Jyvaskyla, Finland. A total of 419 individuals aged 75 or 80 at baseline, with known lower extremity pulse status and balance tests performed on a force platform, were eligible for analysis. Results: Cross-sectionally, persons with both dorsal pedal artery pulses absent were found to sway more (p=0.047 anteroposterior velocity, normal standing eyes-open position). The risk of being unable to do the full tandem stance was twofold (OR=2.20, 95% CI 1.29–3.7…
Serum 25-Hydroxyvitamin D and Osteoarthritis in Older People: The Progetto Veneto Anziani Study.
2015
Recent work has shown that low 25-hydroxyvitamin D (25OHD) levels are associated with the presence of osteoarthritis (OA), but these studies focused on radiographical changes of OA, investigated only one joint, and did not consider the association with OA-related pain. In this study, we aimed to examine the relationship between 25OHD levels and any presence of OA and pain in a cohort of older people. This study was part of the Progetto Veneto Anziani (Pro.V.A), a population-based cohort study in older people. In this cross-sectional work, we considered 2756 subjects (1102 males and 1654 females) with a mean age of 74.2 ± 7.1 years. OA and OA-related pain were defined using a standardized al…
Peripheral arterial disease, diabetes and postural balance among elderly Finns: a population-based study
2008
Background and aims: Little is known about the role of peripheral arterial disease (PAD)in the development of balance impairment. The aim of this study was to assess postural balance among people having PAD or PAD combined with diabetes. Methods: As part of the comprehensive health examination of the Health 2000 survey (two-stage stratified cluster sampling), 1323 people aged 65 years or older took part in balance assessments using a force platform system. The presence of PAD was confirmed with data from the National Hospital Discharge Registry. Individuals with hospitalization due to PAD were regarded as having severe disease, whereas those with solely self-reported diagnosis were consider…
The cortisol burden in elderly subjects with metabolic syndrome and its association with low-grade inflammation
2019
Background: Elderly people are exposed to an increased load of stressful events and neuro-hormonal stimulation is a key finding in metabolic syndrome and its related disorders. Aims: To determine the role of cortisol in elderly subjects, with or without metabolic syndrome (MetS), by means of a national multicentre observational study, AGICO (AGIng and Cortisol). Methods: From 2012 to 2017, the AGICO study enrolled n.339 subjects (aged > 65), after obtaining their informed consent. The investigators assessed a cardio-metabolic panel (including electrocardiogram, carotid ultrasonography and echocardiography), the presence of MetS (on Adult Treatment Panel III criteria), a neurological exam…
Histamine inhibits 5-hydroxytryptamine release from the porcine small intestine: Involvement of H3 receptors
1992
Abstract Strips of the porcine small intestine were incubated in vitro, and the release of 5-hydroxytryptamine (5-HT) was determined by high-pressure liquid chromatography with electrochemical detection. Removal of the mucosa resulted in a large reduction (95%) of tissue 5-HT, suggesting that enterochromaffin cells are the main source of 5-HT. The release of 5-HT was reduced by 70% after omission of calcium. Tetrodotoxin and hexamethonium reduced the release of 5-HT by 30%–40% in a nonadditive manner, indicating a spontaneous neuronal (nicotinic) excitatory input to the enterochromaffin cells. Histamine inhibited the release of 5-HT by about 50%. This effect was not affected by mepyramine o…
How well do questionnaires perform compared with physical examination in detecting flexural eczema? Findings from the International Study of Asthma a…
2009
International audience; BACKGROUND: Questionnaires are widely used in epidemiological studies to measure eczema symptom prevalence, but there are concerns regarding their accuracy if used as a diagnostic tool. OBJECTIVES: To compare the performance of a validated eczema symptom questionnaire and a standardized skin examination protocol employed in the second phase of the International Study of Asthma and Allergies in Childhood (ISAAC). METHODS: A total of 30,358 schoolchildren aged 8-12 years from 18 countries were examined for flexural eczema. Parents also completed an eczema symptom questionnaire. We compared prevalence estimates at the population level based on the questionnaire vs. phys…
A new p65 isoform that bind the glucocorticoid hormone and is expressed in inflammation liver diseases and COVID-19
2021
AbstractInflammation is a physiological process whose deregulation causes some diseases including cancer. Nuclear Factor kB (NF-kB) is a family of ubiquitous and inducible transcription factors, in which the p65/p50 heterodimer is the most abundant complex, that play critical roles mainly in inflammation. Glucocorticoid Receptor (GR) is a ligand-activated transcription factor and acts as an anti-inflammatory agent and immunosuppressant. Thus, NF-kB and GR are physiological antagonists in the inflammation process. Here we show that in mice and humans there is a spliced variant of p65, named p65 iso5, which binds the corticosteroid hormone dexamethasone amplifying the effect of the glucocorti…