Search results for "Familial"
showing 10 items of 365 documents
Postoperative non-invasive assessment of pulmonary vascular resistance using Doppler echocardiography.
2011
Non-invasive monitoring of pulmonary vascular resistance (PVR) in postoperative cardiac surgery patients might be useful, particularly for management of pulmonary hypertension. For this purpose, we sought to assess Doppler echocardiography in the intensive care setting. In 73 patients, hemodynamics was measured using both, invasive gold standard (pulmonary artery catheter), and non-invasively by Doppler echocardiography. Four Doppler parameters: (1) tricuspid regurgitant velocity/time-velocity-integral of right ventricular outflow tract (TRV/VTI(RVOT)), (2) tricuspid annular systolic velocity (S'), (3) tricuspid annular strain, and (4) tricuspid annular strain rate, were compared with invas…
Cracking the Code : The Impact of Orthographic Transparency and Morphological-Syllabic Complexity on Reading and Developmental Dyslexia
2019
Reading is an essential skill in modern societies, yet not all learners necessarily become proficient readers. Theoretical concepts (e.g., the orthographic depth hypothesis; the grain size theory) as well as empirical evidence suggest that certain orthographies are easier to learn than others. The present paper reviews the literature on orthographic transparency, morphological complexity, and syllabic complexity of alphabetic languages. These notions are elaborated to show that differences in reading acquisition reflect fundamental differences in the nature of the phonological recoding and reading strategies developing in response to the specific orthography to be learned. The present paper…
"Analyse d'ADN et regroupement familial : le Ministère a renoncé, mais le droit commun subsiste", JCP éd. G, 2010, n° 16 du 19 avril, p. 450 et s.
2010
National audience
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area
2015
Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…
Même prononcée dans l'intérêt du service, même concernant un militaire, une mutation peut porter atteinte au droit au respect de la vie privée et fam…
2012
International audience
Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.
2013
J. Balmana1, F. Balaguer2, A. Cervantes3 & D. Arnold4, on behalf of the ESMO Guidelines Working Group* Department of Medical Oncology, Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Universitat Autonoma de Barcelona, Barcelona; Department of Gastroenterology, Hospital Clinic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona; Department of Hematology and Medical Oncology, INCLIVA, University of Valencia, Valencia, Spain; Department of Medical Oncology, Tumor Biology Clinic, Albert Ludwigs University, Freiburg, Germany;
Gouvernance des entreprises et divulgation d'informations relatives à la rémunération des dirigeants
2017
International audience; Ce travail examine dans quelle mesure les entreprises se conforment au code de gouvernance en ce qui concerne la communication des éléments relatifs à la rémunération des dirigeants, et s'intéresse aux facteurs pouvant expliquer le niveau de divulgation. A partir d'un échantillon de sociétés cotées sur Euronext, nous mettons en évidence une conformité relativement faible des entreprises avec les recommandations du code AFEP/MEDEF et de l'AMF. Nous montrons par ailleurs que les entreprises familiales sont associées à des scores de divulgation significativement plus faibles, tandis que l'indépendance des administrateurs favorise une divulgation de meilleure qualité.
The Impact of Student Diversity in Secondary Schools : An Analysis of the International PISA Data and Implications for the German Education System
2006
While increased heterogeneity in schools (diversity) leads to reduced segregation and greater equity for students from different family backgrounds, it is often expected to have a negative impact on overall performance, and on student well-being and motivation. In this study, neither cross-country comparisons nor student-level analysis confirm this hypothesis. In some countries, students' overall achievement as well as their interest and engagement even appear to be positively influenced by diversity, notably by socio-economic and cultural diversity. In Germany, socio-economic diversity has a positive impact on student achievement, and ability related and cultural diversity positively affec…
PHYSICAL ACTIVITY IN ADOLESCENCE LEVELS CHANGES AND FACTORS OF INFLUENCE
2021
Physical activity (PA) is considered a health imperative, so it is understandable that physical inactivity imposes a serious health threat. The fact that alarming decline in physical activity levels (PALs) occurs in adolescence is particularly concerning. Accordingly, the dissertation deals with PA issues among adolescents in regular conditions and during the COVID-19 pandemic. Generally, changes and correlates of the PALs in the period from 14 to 18 years of age and in the period of the COVID-19 pandemic are investigated. Four presented studies analyze the specified problems in adolescents from Croatia and Bosnia and Herzegovina and are among the first studies that examined this issue in S…
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease
2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozyg…