Search results for "Mesh"
showing 10 items of 885 documents
Analysis of RET promoter CpG island methylation using methylation-specific PCR (MSP), pyrosequencing, and methylation-sensitive high-resolution melti…
2016
Background Already since the 1990s, promoter CpG island methylation markers have been considered promising diagnostic, prognostic, and predictive cancer biomarkers. However, so far, only a limited number of DNA methylation markers have been introduced into clinical practice. One reason why the vast majority of methylation markers do not translate into clinical applications is lack of independent validation of methylation markers, often caused by differences in methylation analysis techniques. We recently described RET promoter CpG island methylation as a potential prognostic marker in stage II colorectal cancer (CRC) patients of two independent series. Methods In the current study, we analy…
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
2016
International audience; Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al., Dinwiddie et al, Srivastava et al. and Hori et al.). In this re…
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi synd…
2020
International audience; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (W…
Effect of High‐Caloric Nutrition on Survival in Amyotrophic Lateral Sclerosis
2019
International audience; Objective: Weight loss has been identified as a negative prognostic factor in amyotrophic lateral sclerosis, but there is no evidence regarding whether a high-caloric diet increases survival. Therefore, we sought to evaluate the efficacy of a high-caloric fatty diet (HCFD) for increasing survival.Methods: A 1:1 randomized, placebo-controlled, parallel-group, double-blinded trial (LIPCAL-ALS study) was conducted between February 2015 and September 2018. Patients were followed up at 3, 6, 9, 12, 15, and 18 months after randomization. The study was performed at 12 sites of the clinical and scientific network of German motor neuron disease centers (ALS/MND-NET). Eligible…
The polymodal sensory cortex is crucial for controlling lateral postural stability: evidence from stroke patients.
2000
International audience; In modern literature, internal models are considered as a general neural process for resolving sensory ambiguities, synthesising information from disparate sensory modalities, and combining efferent and afferent information. The polymodal sensory cortex, especially the temporoparietal junction (TPJ), is thought to be a nodal point of the network underlying these properties. According to this view, a pronounced disruption of the TPJ functioning should dramatically impair body balance. Surprisingly, little attention has been paid to this possible relationship, which was the subject of investigation in this study. Twenty-two brain-damaged patients and 14 healthy subject…
Detection and characterization of Human caliciviruses associated with sporadic acute diarrhea in adults in Djibouti (horn of Africa).
2008
International audience; Recent advances in molecular diagnostics have allowed us to recognize Human caliciviruses (HuCVs) as important agents of acute diarrhea in industrialized countries. Their prevalence and genetic diversity in developing countries remains unknown. We report on the characterization of HuCVs among adults presenting acute diarrheas in Djibouti; 108 stool samples collected were screened by EIA, RTPCR, or cell cultures for the group A Rotaviruses, Adenoviruses, Astroviruses, and HuCVs, which were further characterized by genotyping. Among stool samples screened for HuCVs, 25.3% were positive. The other enteric viruses were less prevalent. The 11 HuCV strains sequenced reveal…
Combination Therapy with Oral Treprostinil for Pulmonary Arterial Hypertension:A Double-Blind Placebo-controlled Clinical Trial
2020
Rationale: Oral treprostinil improves exercise capacity in patients with pulmonary arterial hypertension (PAH), but the effect on clinical outcomes was unknown.\ud \ud Objectives: To evaluate the effect of oral treprostinil compared with placebo on time to first adjudicated clinical worsening event in participants with PAH who recently began approved oral monotherapy.\ud \ud Methods: In this event-driven, double-blind study, we randomly allocated 690 participants (1:1 ratio) with PAH to receive placebo or oral treprostinil extended-release tablets three times daily. Eligible participants were using approved oral monotherapy for over 30 days before randomization and had a 6-minute-walk dista…
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…
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…