Search results for "MESH: Adult"
showing 10 items of 66 documents
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
2020
IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 (TFE3) have recently been reported in five patients. Functional analysis suggested these mutations to result in ectopic nuclear gain of functions.Materials and methodsSubsequent data sharing allowed the clustering of de novo TFE3 variants identified by exome sequencing on DNA extracted from leucocytes in patients referred for syndromic ID with or with…
Long-term Immune Response to Hepatitis B Virus Vaccination Regimens in Adults With Human Immunodeficiency Virus 1: Secondary Analysis of a Randomized…
2016
International audience; IMPORTANCE:Data on long-term immune responses to hepatitis B virus (HBV) vaccination in adults with human immunodeficiency virus 1 (HIV-1) infection are scarce.OBJECTIVE:To compare long-term (up to month 42) immune responses to the standard HBV vaccination regimen with a 4-injection intramuscular double-dose regimen and a 4-injection intradermal low-dose regimen.DESIGN, SETTING, AND PARTICIPANTS:The phase 3, open-label, multicenter parallel-group (1:1:1 allocation ratio) randomized clinical trial was conducted from June 28, 2007, to October 23, 2008, at 33 centers in France. Participants included 437 HBV-seronegative adults with HIV-1 and CD4 cell counts of more than…
[Appropriate cytotoxic drug usages in solid tumors: conformity to official labelling and level of scientific evidence]
2006
International audience; The definition of appropriate use of drugs is questioned in oncology. Daily therapeutic practices were compared to official labelling and to published scientific data in this retrospective study. It was carried out in two respective specialised centers, from January to September 2004. All chemotherapies administered for adult solid tumours and including one of the eleven studied drugs were evaluated. The analysis of use was performed by drug : conformity to the validated labelling and level of scientific evidence (at the period study). The study included 1,561 drug uses in 1,211 patients. The overall rate of conformity to official labelling was 81.7 % (67.1 % of stri…
[Investigation of an outbreak of norovirus gastroenteritis in a geriatric hospital]
2005
National audience; In aged-care facilities, gastroenteritis outbreaks are responsible for big trouble in the management of cares to the elderly. In November 2002, a gastroenteritis outbreak was observed in 5 of the 6 wards of the geriatric hospital La Charité, University Hospital of Saint-Etienne, France, with an attack rate of 38.5% in the elderly (70 infected from 182 patients) and of 26.0% in the nursing staff (40 infected from 154 agents). The outbreak lasted 30 days with a peak corresponding to 79.8% of the cases between the 11(th) and the 20(th) of November. The first cases were observed in the two short-term-care wards; then, the outbreak spread rapidly to 3 of the 4 long-term care u…
Validity of the study of sentinel lymph nodes in the treatment of breast carcinoma.
2004
Since it was introduced in the 1990s, axillary sentinel lymph-node biopsy has been rapidly and widely adopted to avoid complete axillary dissection (though this is still the standard procedure). The aims of the study were two-fold: (i) to determine the value of different techniques of sentinel lymph-node identification and (ii) to verify the predictive value of such procedures through histological examination of the sentinel lymph node and axillary dissection in the same patients. Both sentinel lymph-node biopsy and axillary dissection were performed in 230 patients with T1 and T2 (< 3 cm) carcinoma of the breast. Preoperative lymphoscintigraphy was able to identify the sentinel lymph node …
TP53 codon 72 polymorphism and cervical cancer
2009
Background Cervical cancer is caused primarily by human papillomaviruses (HPV). The polymorphism rs1042522 at codon 72 of the TP53 tumour-suppressor gene has been investigated as a genetic cofactor. More than 80 studies were done between 1998 and 2006, after it was initially reported that women who are homozygous for the arginine allele had a risk for cervical cancer seven times higher than women who were heterozygous for the allele. However, results have been inconsistent. Here we analyse pooled data from 49 studies to determine whether there is an association between TP53 codon 72 polymorphism and cervical cancer.Methods Individual data on 7946 cases and 7888 controls from 49 different st…
Quality, comparability and methods of analysis of data on childhood cancer in Europe (1978-1997): report from the Automated Childhood Cancer Informat…
2006
International audience; In collaboration with 62 population-based cancer registries contributing to the Automated Childhood Cancer Information System (ACCIS), we built a database to study incidence and survival of children and adolescents with cancer in Europe. We describe the methods and evaluate the quality and internal comparability of the database, by geographical region, period of registration, type of registry and other characteristics. Data on 88,465 childhood and 15,369 adolescent tumours registered during 1978-1997 were available. Geographical differences in incidence are caused partly by differences in definition of eligible cases. The observed increase in incidence rates cannot b…
Monotonous consumption of fibre-enriched bread at breakfast increases satiety and influences subsequent food intake
2012
Research report; International audience; This study aimed to observe the influence of the monotonous consumption of two types of fibre-enriched bread at breakfast on hedonic liking for the bread, subsequent hunger and energy intake. Two groups of unrestrained normal weight participants were given either white sandwich bread (WS) or multigrain sandwich bread (MG) at breakfast (the sensory properties of the WS were more similar to the usual bread eaten by the participants than those of the MG). In each group, two 15-day cross-over conditions were set up. During the experimental condition the usual breakfast of each participant was replaced by an isocaloric portion of plain bread (WS or MG). D…
Influence of substrate oxidation on the reward system, no role of dietary fibre.
2011
International audience; It has been suggested that a high intake of dietary fibre helps regulate energy intake and satiety. The present study aimed to examine whether dietary fibre influenced the liking and wanting components of the food reward system, the metabolic state or subsequent intake. Five sessions involving 32 normal-weight subjects (16 men and 16 women, 30.6 ± 7.6 year) were held. The sessions differed in the composition of the bread eaten during breakfasts (dietary fibre content varied from 2.4 to 12.8 g/100 g). Several factors such as the palatability, weight, volume, energy content and macronutrient composition of the breakfasts were adjusted. Energy expenditure, the respirato…
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…