Search results for "Mesh"
showing 10 items of 885 documents
Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…
1999
The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
2013
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…
Pattern formation in 3-D numerical models of down-built diapirs initiated by a Rayleigh–Taylor instability
2015
Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countr…
2015
Summary Background The Global Burden of Disease Study 2013 (GBD 2013) aims to bring together all available epidemiological data using a coherent measurement framework, standardised estimation methods, and transparent data sources to enable comparisons of health loss over time and across causes, age–sex groups, and countries. The GBD can be used to generate summary measures such as disability-adjusted life-years (DALYs) and healthy life expectancy (HALE) that make possible comparative assessments of broad epidemiological patterns across countries and time. These summary measures can also be used to quantify the component of variation in epidemiology that is related to sociodemographic develo…
Protein, creatine and dieting supplements among adolescents: Use and associations with eating disorder risk factors, exercise- and sports participati…
2021
Objective: This study aimed to estimate the number of weekly users of protein, creatine, and dieting supplements and to explore whether weekly use was related to eating disorder (ED) risk factors, exercise, sports participation, and immigrant status.Methods: In total, 629 and 1,060 high school boys and girls, respectively, self-reported weekly frequency of protein, creatine, and dieting supplement use, and weight and shape concerns, appearance internalization and pressure, self-esteem, mental distress, physical activity level, exercise context, and the type and weekly frequency of sport played. Multiple hierarchical regression analyses were performed to investigate explanatory factors for s…
Very preterm birth: who has access to antenatal corticosteroid therapy?
2010
International audience; We describe the administration of antenatal corticosteroid therapy (ACT) for liveborn very preterm neonates in a population-based study. A total of 790 very preterm neonates (between 24 and 31 full weeks of gestation) were included in this regionally defined population of very preterm neonates in France. The main outcome measure was non-access to ACT. Data were analysed using logistic and polytomous models to control for neonatal and sociodemographic characteristics, mechanisms of very preterm birth and neonatal network organisation. As compared with level III, births in levels I-II maternity units were closely related to non-access to ACT (60.1% vs. 8.8%), but not t…
Characterization of a novel open reading frame, urf a, in the mitochondrial genome of fission yeast: correlation of urf a mutations with a mitochondr…
1991
Between the genes for tRNA(gin) and tRNA(ile) an open reading frame of 227 amino acids has been identified which is unique among known mitochondrial genomes and which has been termed urf a (Lang et al. 1983; Kornrumpf et al. 1984). It uses the "mitochondrial" genetic code, i.e., it contains a TGA codon, whereas all other protein-encoding genes, and all but one intronic open reading frame, use the "standard" genetic code (UGG for tryptophan). A previous paper has demonstrated that "mutator" strains show an increased formation of mitochondrial drug-resistant and respiration-deficient mutants (including deletions). In this paper we show that the mutator activity is correlated with mutations in…
Comment on "Lethally hot temperatures during the Early Triassic greenhouse".
2013
Sun et al . (Reports, 19 October 2012, p. 366) reconstructed Permian to Middle Triassic equatorial seawater temperatures. After correct temporal positioning of their data points, their presumed trends of temperature changes, and hence their assumption of a one-to-one relationship between putative "lethally hot" seawater temperatures and a disputable equatorial "eclipse" of some organisms, are no longer supported by their data.
Offene Reparation der inzisionalen Flankenhernie mit retromuskulärer präperitonealer Netzimplantation – Beschreibung der Technik und Ergebnisse einer…
2018
Zusammenfassung Hintergrund Die Operation der Flankenhernie ist wenig standardisiert. Das Hauptproblem der Hernienreparation bei intermuskulärer Netzlage liegt in der Flächenbegrenzung nach dorsal wie auch in der problematischen Fixation des Netzes am Rippenbogen bzw. Beckenkamm. Diese Problematik drückt sich auch aus in der Vielfalt vorgeschlagener Operationsverfahren. Patienten/Material und Methoden Von August 2015 bis Oktober 2016 wurden 9 Patienten wegen einer Narbenhernie der Flanke mit einer retroperitonealen, präperitonealen, offenen Netzreparation operativ versorgt und analysiert. Bei intermuskulärer Netzlage würde das einzubringende Netz umso kleiner ausfallen, je kleiner der kosto…