Search results for "Mesh"
showing 10 items of 885 documents
Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risk…
2015
Summary Background The Global Burden of Disease, Injuries, and Risk Factor study 2013 (GBD 2013) is the first of a series of annual updates of the GBD. Risk factor quantification, particularly of modifiable risk factors, can help to identify emerging threats to population health and opportunities for prevention. The GBD 2013 provides a timely opportunity to update the comparative risk assessment with new data for exposure, relative risks, and evidence on the appropriate counterfactual risk distribution. Methods Attributable deaths, years of life lost, years lived with disability, and disability-adjusted life-years (DALYs) have been estimated for 79 risks or clusters of risks using the GBD 2…
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…
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma
2006
Hereditary predisposition to retinoblastoma (RB) is caused by germline mutations in the retinoblastoma 1 (RB1) gene and transmits as an autosomal dominant trait. In the majority of cases disease develops in greater than 90% of carriers. However, reduced penetrance with a large portion of disease-free carrier is seen in some families. Unambiguous identification of the predisposing mutation in these families is important for accurate risk prediction in relatives and their genetic counseling but also provides conceptual information regarding the relationship between the RB1 genotype and the disease phenotype. In this study we report a novel mutation detected in 10 individuals of an extended fa…
Stability of pedalling mechanics during a prolonged cycling exercise performed at different cadences.
2005
The aim of this study was to analyse the effect of pedalling rate on the pattern of mechanical torque application and on neuromuscular fatigue during prolonged cycling exercise. Eleven well-trained individuals performed three 1-h pedalling sessions, at 50 rev.min-1, 110 rev.min-1 and a freely chosen cadence, at an intensity corresponding to 65% of their maximal aerobic power. The mechanical torque applied on the right pedal was recorded for 30 s every 5 min while pedalling. Contractile and neural properties of the quadriceps and hamstring muscles were analysed before and immediately after each of the three pedalling sessions. The post-exercise reduction in knee extensors maximal voluntary c…
Intra-arterial idarubicin_lipiodol without embolization can provide prolonged complete response in hepatocellular carcinoma: A case report.
2020
International audience; Hepatocellular carcinoma is the fourth leading cause of cancer death. For unresectable intermediate-stage hepatocellular carcinoma, the standard treatment is transarterial chemoembolization. To date, the overall survival at three years remains low, and there is currently no consensus about the best anticancer agent and optimal treatment regimen. We report the case of a hepatocellular carcinoma patient with a vascular contraindication to embolization who achieved a complete response after four intra-arterial infusions of idarubicin emulsified with lipiodol. The patient maintained his response over a three-year period without any hepatocellular carcinoma treatment, dem…
H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates
2011
Serum H-ficolin (ficolin-3) concentrations (n=613) and FCN3 genotypes (n=529) from a large group of neonates are presented. Both pre-term deliveries and low birthweight (independently of gestational age) were significantly associated with low H-ficolin concentrations but not with heterozygosity for the FCN3 1637delC frameshift mutation. The presence of the variant allele, however, apparently influenced the protein level. No association of FCN3 gene heterozygosity or relative functional H-ficolin insufficiency (determined as serum level ≤8.6 μg/ml) with perinatal infections was found. One premature newborn, with confirmed infection caused by Streptococcus agalactiae, was H-ficolin-deficient …
Bone marrow fat quantification of osteoporotic vertebral compression fractures: comparison of multi-voxel proton MR spectroscopy and chemical-shift g…
2011
Background Only a few studies have used in/opposed phase method for a quantitative evaluation of fat fraction in the spine. Purpose To compare multivoxel proton MR spectroscopy and chemical-shift gradient-echo MR imaging for bone marrow fat quantification in vertebral compression fractures (VCF). Material and Methods Vertebral marrow fat quantification in fifteen patients was measured at 3.0-T. Multi-voxel proton spectroscopy (MRS) and in/opposed-phase MR imaging using a fat map build with a triple-echo gradient-echo sequence was used. All the patients had benign vertebral collapse. Bone marrow fat content was evaluated by both techniques in compressed (acute or chronic) and in non-compress…
Effects of typical inducers on olfactory xenobiotic-metabolizing enzyme, transporter, and transcription factor expression in rats.
2010
International audience; Several xenobiotic-metabolizing enzymes (XMEs) have been identified in the olfactory mucosa (OM) of mammals. However, the molecular mechanisms underlying the regulation of these enzymes have been little explored. In particular, information on the expression of the transcriptional factors in this tissue is quite limited. The aim of the present study was to examine the impact of five typical inducers, Aroclor 1254, 3-methylcholanthrene, dexamethasone, phenobarbital, and ethoxyquin, on the activities and mRNA expression of several XMEs in the OM and in the liver of rats. We also evaluated the effects of these treatments on the mRNA expression of transcription factors an…
Functional reorganization of the attentional networks in low-grade glioma patients: a longitudinal study.
2015
International audience; Right brain damage often provokes deficits of visuospatial attention. Although the spatial attention networks have been widely investigated in stroke patients as well as in the healthy brain, little is known about the impact of slow growing lesions in the right hemisphere. We here present a longitudinal study of 20 patients who have been undergoing awake brain surgery with per-operative line bisection testing. Our aim was to investigate the impact of tumour presence and of tumour resection on the functional (re)organization of the attention networks. We assessed patients' performance on lateralized target detection, visual exploration and line bisection before surger…
Strength training in old age: adaptation of antagonist muscles at the ankle joint.
2005
The purpose of this study was to determine whether strength training could reduce the deficit in plantarflexion (PF) maximal voluntary contraction (MVC) torque observed in previous studies in older subjects relative to young adults. Accordingly, the effects of a 6-month strength training program on the muscle and neural properties of the major muscle groups around the ankle were examined. PF and dorsiflexion (DF) isometric MVC torques were measured and surface electromyographic activity of the triceps surae and tibialis anterior muscles was recorded. The strength training program was very effective in improving strength in PF (+24.5%), and it thus reduced the DF-to-PF MVC torque ratio; in a…