Search results for "Testing"
showing 10 items of 1769 documents
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
2019
Abstract Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR. Results Two novel FGD4 variants (c.514delG and c.2211dupA) were identified in two mildly affected Spanish siblings with CMT4H, and with disease onset in late adolescence/adulthood (one of them remaining asymptomatic at 20). On examination, foot deformity was observed without weakness or sensory i…
Workflow-centred open-source fully automated lung volumetry in chest CT
2019
Aim To develop a robust open-source method for fully automated extraction of total lung capacity (TLC) from computed tomography (CT) images and to demonstrate its integration into the clinical workflow. Materials and methods Using only open-source software, an algorithm was developed based on a region-growing method that does not require manual interaction. Lung volumes calculated from reconstructions with different kernels (TLCCT) were assessed. To validate the algorithm calculations, the results were correlated to TLC measured by pulmonary function testing (TLCPFT) in a subgroup of patients for which this information was available within 3 days of the CT examination. Results A total of 28…
Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.
2010
Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition of the deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. The microarray-based comparative genomic hybridization (CGH arrays) analysis is the actual molecular method able to accurately define the bounds of a deleted region, since it allows an evaluation of DNA copy number alterations a…
Spontaneous confabulation, temporal context confusion and reality monitoring: a study of three patients with anterior communicating artery aneurysms.
2010
AbstractSpontaneous confabulation involves the production of false or distorted memories, and is commonly associated with ventromedial prefrontal damage. One influential theory proposes that the critical deficit is a failure to suppress currently irrelevant memory traces that intrude into ongoing thinking (Schnider & Ptak, 1999). In this study, we report experimental investigations with three spontaneously confabulating patients aimed at exploring this account. Using Schnider and Ptak’s (1999) continuous recognition paradigm, we replicated their experimental results with our patients. However, our data suggest that the critical impairment might be more generalized than a failure to supp…
Burnout, associated comorbidities and coping strategies in French community pharmacies—BOP study: A nationwide cross-sectional study
2016
International audience; Background: work-related stress and burnout syndromes are unfortunately common comorbidities found in health professionals. However, burnout syndrome has only been partly and episodically assessed for community pharmacists whereas these professionals are exposed to patients’ demands and difficulties every day. Prevalence of burnout, associated comorbidities and coping strategies were assessed in pharmacy teams (pharmacists and pharmacy technicians) in French community pharmacies.Methods: This online survey was performed by emails sent to all French community pharmacies over 3 months. The survey assessed the prevalence of burnout (Maslach Burnout Inventory—MBI—questio…
Everyday uses of standardized test information in a geriatric setting: a qualitative study exploring occupational therapist and physiotherapist test …
2013
Background Health professionals are required to collect data from standardized tests when assessing older patients’ functional ability. Such data provide quantifiable documentation on health outcomes. Little is known, however, about how physiotherapists and occupational therapists who administer standardized tests use test information in their daily clinical work. This article aims to investigate how test administrators in a geriatric setting justify the everyday use of standardized test information. Methods Qualitative study of physiotherapists and occupational therapists on two geriatric hospital wards in Norway that routinely tested their patients with standardized tests. Data draw on se…
Detection of drug resistance mutations at low plasma HIV-1 RNA load in a European multicentre cohort study
2011
Background and objectives: Guidelines indicate a plasma HIV-1 RNA load of 500-1000 copies/mL as the minimal threshold for antiretroviral drug resistance testing. Resistance testing at lower viral load levels may be useful to guide timely treatment switches, although data on the clinical utility of this remain limited. We report here the influence of viral load levels on the probability of detecting drug resistance mutations (DRMs) and other mutations by routine genotypic testing in a large multicentre European cohort, with a focus on tests performed at a viral load <1000 copies/mL. Methods: A total of 16511 HIV-1 reverse transcriptase and protease sequences from 11492 treatment-experienced …
Relative peak exercise oxygen pulse is related to sudden cardiac death, cardiovascular and all-cause mortality in middle-aged men
2018
Background Preliminary evidence suggests that peak exercise oxygen pulse – peak oxygen uptake/heart rate-, a variable obtained during maximal cardiopulmonary exercise testing and a surrogate of stroke volume, is a predictor of mortality. We aimed to assess the associations of peak exercise oxygen pulse with sudden cardiac death, fatal coronary heart disease and cardiovascular disease and all-cause mortality. Design A prospective study. Methods Peak exercise oxygen pulse was assessed in a maximal cycling test at baseline in 2227 middle-aged men of the Kuopio Ischaemic Heart Disease cohort study using expired gas variables and electrocardiograms. Relative peak exercise oxygen pulse was obtain…
Functional and Prognostic Implications of the Main Pulmonary ArteryDiameter to Aorta Diameter Ratio from Chest Computed Tomography inKorean COPD Pati…
2016
Background The ratio of the diameter of the main pulmonary artery (mPA) to the diameter of the aorta (Ao) on chest computed tomography is associated with diverse clinical conditions. Herein, we determined the functional and prognostic implications of the mPA/Ao ratio in Korean chronic obstructive pulmonary disease (COPD) patients. Methods The study population comprised 226 chronic obstructive pulmonary disease patients from the Korean Obstructive Lung Disease cohort who underwent chest computed tomography. We analyzed the relationships between the clinical characteristics, including pulmonary function, echocardiography findings, St. George's Respiratory Questionnaire, 6-minute walking (6MW)…
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
2010
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…