Search results for "Peat"
showing 10 items of 1026 documents
Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.
2011
11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
2012
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified d…
Variability and Symmetry of Force Platform Variables in Maximum-Speed Running in Young and Older Athletes
2010
Eighteen young (23 ± 4 yr) and 25 older (70 ± 4 yr) male sprinters were examined for ground reaction force (GRF) and temporal-spatial variables. The data were collected during maximum-speed phase, and variability and symmetry indices were calculated from a total of 8 steps. There was little variation (CV < 6%) in vertical and resultant GRF and kinematic variables, while impact loading had high variability (CV: 10–21%). Overall, the pattern of variability was similar in both groups. Yet, a small but significant age-related increase in CV was evident in horizontal GRFs. There was a variable-specific asymmetry between legs but it was not related to leg dominance. No age differences existed …
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
2018
© 2018 Elsevier Inc.
Effects of target distance on select biomechanical parameters in taekwondo roundhouse kick.
2013
The aim of this study was to investigate the effects of target distance on temporal and impact force parameters that are important performance factors in taekwondo kicks. Forty-nine taekwondo athletes (age = 24.5 +/- 5.9 years; mass = 79.9 +/- 10.8 kg) were recruited: 13 male experts, 21 male novices, 8 female experts, and 6 female novices. Impact force, reaction time, and execution time were computed. Three-way repeated measure ANOVAs revealed significant 'distance' effect on impact force, reaction time, and execution time (p = 0.001). Comparisons between distance conditions revealed that taekwondo athletes kicked with higher impact force from short distance (17.6 +/- 7.5 N/kg) than from l…
Development of a pentaplex X-chromosomal short tandem repeat typing system and population genetic studies
2005
Quadruplex and pentaplex systems for polymerase chain reaction amplification of X-chromosomal short tandem repeats DXS101, HPRTB, DXS8377, DXS981 (STRX1) and DXS6789 were developed for automated profiling of liquid and membrane-bound DNA samples. Chinese, Japanese and Thai populations were typed using a quadruplex system, while German and Philippine populations were analyzed using a five-locus system. Out of 88 meioses studied in Philippine family samples at each locus, a possible one repeat deletion (allele 51 to 50) at DXS8377 was observed in a father-daughter pair. Exact tests performed on genotype data from females in the Philippine, German and Thai populations indicated that these grou…
4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).
2007
Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…
Influences of baseline heart rate variability on repeated sprint performance in young soccer players
2015
AIM: The aim of this study was to assess the influence of the autonomic system on the performance of repeated sprints, involving predominantly neuromuscular power, in young soccer players. METHODS: Twelve young soccer players, selected for the Sicilian Regional Football Representative, mean age 15 years, were recruited. Baseline heart rate variability (HRV) was measured and indices of power spectral analysis (LF, HF, and ratio LF/HF) were calculated to evaluate the sympathovagal balance. The athletes performed 10 maximal 6--sec cycling sprints (RS), interspersed with 30--sec of recovery, to measure the peak power output (PP) represented by the highest power value recorded during a 6--sec sp…
Per-protocol repeat kidney biopsy portends relapse and long-term outcome in incident cases of proliferative lupus nephritis
2019
Abstract Objectives In patients with LN, clinical and histological responses to treatment have been shown to be discordant. We investigated whether per-protocol repeat kidney biopsies are predictive of LN relapses and long-term renal function impairment. Methods Forty-two patients with incident biopsy-proven active proliferative (class III/IV±V) LN from the database of the UCLouvain were included in this retrospective study. Per-protocol repeat biopsies were performed after a median [interquartile range (IQR)] time of 24.3 (21.3–26.2) months. The National Institutes of Health activity index (AI) and chronicity index (CI) scores were assessed in all biopsies. Results Despite a moderate corre…
A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q
2001
Bipolar affective disorder (BPAD), also known as manic depressive illness, is a severe psychiatric disorder characterized by episodes of mania and depression. It has a lifetime prevalence of approximately 1% in all human populations. In order to identify chromosomal regions containing genes that play a role in determining susceptibility to this psychiatric condition, we have conducted a complete genome screen with 382 markers (average marker spacing of 9.3 cM) in a sample of 75 BPAD families which were recruited through an explicit ascertainment scheme. Pedigrees were of German, Israeli and Italian origin, respectively. Parametric and non-parametric linkage analysis was performed. The highe…