Search results for "sang"
showing 10 items of 428 documents
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
2009
Analysis of 100 HSP Exomes and Characterization of Mutations in Known Autosomal Dominant Genes (P05.166)
2012
Objective: Comprehensive screening of all known autosomal dominant HSP genes in a large cohort of patients. Background Hereditary spastic paraplegias comprise a group of clinically and genetically heterogeneous neurodegenerative disorders that share the common clinical feature of lower limb spastic paraplegia. Ten genes causing autosomal dominant HSP are known to date, together explaining about 60% of cases. Knowledge about frequency of HSP subtypes and genotype-phenotype correlation is limited by the fact that most screenings so far are biased due to phenotypic pre-selection of the study cohort or inhomogeneous a priori genetic diagnostic testing. Design/Methods: We have screened a large c…
Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
2014
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a…
Phylogenomic Analysis Reveals Deep Divergence and Recombination in an Economically Important Grapevine Virus
2015
The evolutionary history of the exclusively grapevine (Vitis spp.) infecting, grapevine leafroll-associated virus 3 (GLRaV-3) has not been studied extensively, partly due to limited available sequence data. In this study we trace the evolutionary history of GLRaV-3, focussing on isolate GH24, a newly discovered variant. GH24 was discovered through the use of next-generation sequencing (NGS) and the whole genome sequence determined and validated with Sanger sequencing. We assembled an alignment of all 13 available whole genomes of GLRaV-3 isolates and all other publicly available GLRaV-3 sequence data. Using multiple recombination detection methods we identified a clear signal for recombinat…
A short screener is valid for assessing mediterranean diet adherence among older spanish men and women
2011
6 páginas.
Sporting Activities and Quality of Life in Children With Hemophilia: An Observational Study.
2016
Sports activities are part of multidisciplinary treatments in people with hemophilia. Aim: The objective of this study was to assess the incidence of sports activities in the quality of life as perceived by children with hemophilia. Methods: A total of 53 children with hemophilia aged 7 to 13 years and 51 children without hemophilia were evaluated. The perception of quality of life, clinical variables, and the frequency of sports activities were registered. The joint condition of patients with hemophilia was measured with the Spanish version of the Haemophilia Joint Health Score. Results: There were no significant differences in the perception of quality of life between children with hemoph…
About the Ambassador Vich Palace s distribution and some thoughts on its patio
2019
[ES] El palacio del Embajador Vich es todavía una de las grandes asignaturas pendientes de la historiografía valenciana. Su patio, reconstruido en el Museo de Bellas Artes de Valencia, ha sido estudiado por diversos autores en las últimas décadas y se ha relacionado con el panorama romano de la época, asumiendo no obstante su autoría local. En cuanto al resto del edificio, apenas se ha tratado sobre él, más allá de algunas interpretaciones basadas en los planos de Tosca y Fortea. En el presente artículo pretendemos contribuir a conocer algo mejor la residencia histórica de los barones de Llaurí a partir de dos inventarios del siglo XVII. Igualmente reflexionaremos sobre algunas incógnitas t…
Deux fosses particulières à Pithiviers « Bois Médor » (Loiret)
2010
Le projet de construction du contournement nord de la ville de Pithiviers, dans le Loiret (fig. 1), a nécessité l’intervention de l’Inrap à travers une première opération de diagnostic réalisée en 2008, puis par deux fouilles successives menées de mai à juillet 2010 (Dubuis dir., 2010). Ces fouilles s’inscrivent dans le terroir gâtinais, caractérisé ici par des limons de plateau couvrant un relief très peu marqué. Le cours d’eau le plus proche, l’Œuf, est situé à quelque 600 m au sud-est. Les...
MASked-unconTrolled hypERtension management based on office BP or on ambulatory blood pressure measurement (MASTER) Study: a randomised controlled tr…
2018
Introduction Masked uncontrolled hypertension (MUCH) carries an increased risk of cardiovascular (CV) complications and can be identified through combined use of office (O) and ambulatory (A) blood pressure (BP) monitoring (M) in treated patients. However, it is still debated whether the information carried by ABPM should be considered for MUCH management. Aim of the MASked-unconTrolled hypERtension management based on OBP or on ambulatory blood pressure measurement (MASTER) Study is to assess the impact on outcome of MUCH management based on OBPM or ABPM. Methods and analysis MASTER is a 4-year prospective, randomised, open-label, blinded-endpoint investigation. A total of 1240 treated hyp…
Ileus following spontaneous jejunum intramural hematoma: case report and review of the literature.
2013
Anticoagulant therapy may cause the onset of a spontaneous intramural hema- toma of the small bowel, in the jejunum, ileum or duodenum. A 53-year-old woman on therapy with heparin for previous pulmonary embolism was admitted for abdominal pain and vomit. Computed tomography scan visualized an intramural hematoma of the jejunum causing subtotal obstruction of the intestinal lumen. The patient underwent resection of a part of the jejunum, securing intestinal continuity by a mechanical side-to-side anastomosis. The postoperative course was regular, but the initial anticoagulant therapy was reduced to prevent recurrence. In conclusion, spontaneous hema- toma of small bowel can occur as a compli…