Search results for "loss"
showing 10 items of 2103 documents
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
2000
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…
Unilateral laryngeal and hypoglossal paralysis (Tapia's syndrome) in a patient with an inflammatory pseudotumor of the neck
2012
Tapia’s syndrome (TS) is a rare condition thought tobe causedby njury to the extracranial course of both recurrent laryngeal branch f the vagal nerve and hypoglossal nerve. First described in 1904, t occurs with unilateral paralysis of the vocal cord and tongue, ith normal function of the soft palate. Commonly reported causes re direct trauma, neurofibromatosis of X and XII nerves, carotid rtery dissection involving the ascending pharyngeal artery, and isplacement of endotracheal tube during general anesthesia [1].
The effects of indoor cycling training in sedentary overweight women
2010
Abstract AIM: The aim of this study was to evaluate the body composition and physiological effects in young sedentary overweight women after an indoor cycle training period. METHODS: Fourteen subjects (22.6+/-2.1 yrs; 25-29.9 BMI) were trained for 12 weeks in a specific indoor cycling protocol (ICP) consisting of three sessions/week carried out in a fitness room. Body composition and physiological parameters were taken before the beginning of the study and after 12, 24 and 36 sessions. RESULTS: We observed a reduction of 2.6% and 3.2% in body weight and of 4.3% and 5% in fat mass after 24 and 36 sessions respectively (P<0.05). Lean mass increased by 2.3% and 2.6% respectively after 24 and 3…
Effect of incision design on interproximal bone loss of teeth adjacent to single implants. A randomized controlled clinical trial comparing intrasulc…
2018
PURPOSE To evaluate the effect of incision design in implant surgery on interproximal bone loss of posterior teeth adjacent to interdental single implants, comparing intrasulcular and paramarginal incision. A further aim was to assess the influence of the incision technique on peri-implant bone remodeling. MATERIALS AND METHODS A controlled randomized clinical trial was carried out in a University Clinic. All the patients received an interdental posterior single implant. The incision type was randomly divided into two groups: (a) intrasulcular or (b) paramarginal. Standardized periapical digital radiographs were made with the parallel technique and a silicone index individualized in each pa…
The intestinal mycobiota and its relationship with overweight, obesity and nutritional aspects
2021
[Background]: The fungal community of the gastrointestinal tract has recently become of interest, and knowledge of its relationship with the development of obesity is scarce. The present study aimed to evaluate the cultivable fungal fraction from the microbiota and to analyze its relationship with obesity.
Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease
2015
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variant…
The role of body muscle mass as an indicator of activity in inflammatory bowel disease patients
2020
Malnutrition is an objective disease activity parameter for patients with inflammatory bowel disease (IBD), particularly Crohn's Disease (CD), and is an indicator of lesion expansion or inflammatory activity. Active disease is correlated with the systemic response of the body's immune system, activating a hypermetabolic state and protein degradation (Argiles JM, 2015). These conditions lead to malnutrition, which significantly increases the risk of impaired clinical outcomes, such as delayed recovery or increased mortality (Landi F, 2019). Our aim was to identify malnutrition parameters associated with more pronounced metabolic status changes in IBD patients (i.e., classified as by low and …
The effects of mindfulness training on weight-loss and health-related behaviours in adults with overweight and obesity: A systematic review and meta-…
2016
International audience; The aim of this study was to conduct a comprehensive quantitative synthesis of the effects of mindfulness training interventions on weight-loss and health behaviors in adults with overweight and obesity using meta-analytic techniques. Studies included in the analysis (n = 12) were randomized controlled trials investigating the effects of any form of mindfulness training on weight loss, impulsive eating, binge eating, or physical activity participation in adults with overweight and obesity. Random effects meta-analysis revealed that mindfulness training had no significant effect on weight loss, but an overall negative effect on impulsive eating (d = –1.13) and binge e…
Heart rate variability after vigorous physical exercise is positively related to loss aversion
2020
Loss aversion bias, whereby losses loom larger than gains, can be reduced by stress. At the same time, vigorous physical exercise is a powerful neuroendocrine stressor and heart rate variability (HRV) provides an objective measure of the actual exercise impact, relative to each individual physical condition. Our aim was to study whether vigorous exercise can influence loss aversion, considering HRV in this relation. We hypothesized that the lower HRV derived from vigorous exercise (i.e., when stressor produced the most impact) would predict a lower loss aversion.Two groups (Experimental,Results revealed a significant group x HRV interaction. In the control group, HRV was not associated with…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …