Search results for " Preschool."

Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

2022

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.

Effects of Heat Waves on Mortality

2013

Heat waves and air pollution are both associated with increased mortality. Their joint effects are less well understood.We explored the role of air pollution in modifying the effects of heat waves on mortality, within the EuroHEAT project. Daily mortality, meteorologic, and air pollution data from nine European cities for the years 1990-2004 were assembled. We defined heat waves by taking both intensity and duration into account. The city-specific effects of heat wave episodes were estimated using generalized estimating equation models, adjusting for potential confounders with and without inclusion of air pollutants (particles, ozone, nitrogen dioxide, sulphur dioxide, carbon monoxide). To …

Early neutralizing and glycoprotein B (gB)-specific antibody responses to human cytomegalovirus (HCMV) in immunocompetent individuals with distinct c…

2000

Abstract Background: Antibodies with functional anti-Human Cytomegalovirus (HCMV) activity are likely to be involved in preventing virus dissemination and thus may contribute to minimize the clinical manifestations of infection. Objectives: To investigate the role of humoral immunity in modulating the clinical expression of primary Human Cytomegalovirus (HCMV) infection in immunocompetent persons. Study design: Neutralizing (NA) and glycoprotein B (gB)-specific antibodies were quantitated in acute-phase and late-convalescence phase sera from 19 individuals who developed either HCMV mononucleosis (12) or oligosymptomatic hepatitis (seven). Results: The levels of NA in sera drawn early after …

Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

2008

AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed < 19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The f…

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

2015

Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…

Incidence, age at onset, and potential reasons of malignant transformation in recurrent respiratory papillomatosis patients: 20 years experience

2005

Forty-two patients with recurrent respiratory papillomatosis (RRP) were accepted into a multicenter prospective study in 1983 to 1990, treated with alfa-IFN 3 MU/m 2 3 times a week and then followed-up until August 1, 2003. All the patients who had disease progression with pulmonary spread were characterized by insufficient response to IFN-therapy and detection of HPV type 11. Five patients (4/5 smokers) presented malignant transformation in lungs or nasopharynx (mean RRP duration was 27.2 +/- 8 years from RRP onset and 14.6 +/- 6.3 years from pulmonary spread until malignant transformation) with persistent RRP in larynx. The results of long-term follow-up in RRP patients with HPV 11 underl…

Information structure in language acquisition. Production and comprehension of (in)definite articles by German-speaking children.

2020

AbstractThe present study investigates the production and comprehension of indefinite and definite articles as markers of givenness by typically-developing German-speaking children, from the perspective of information structure theory. The study involves 93 typically-developing children aged four to seven years old with normal language-skills and 20 adults. The results of a story-narration task and a truth-value judgment task reveal that children have more problems with new than with given referents in production as well as comprehension suggesting a “given better than new”-pattern. These findings are explained in the context of perspective-taking capacities and cue weighting theory.

Invasive procedures and minor surgery in factor VII deficiency

2012

Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome

2018

Little is known about the incidence of cardiovascular events (CVEs) and their associated risk markers in children with Marfan syndrome (MFS).To assess the incidence of CVEs and determine risk markers in a cohort diagnosed with Marfan syndrome during childhood and followed for several years.From a French multicentre nationwide database, 462 patients with MFS diagnosed during childhood were included prospectively. Patients' files were screened for a period of 20 years (1993-2013). CVEs (e.g. death, aortic dissection, cardiac valve or aortic root surgery) were assessed during the prospective follow-up.Median (interquartile range) age at the end of follow-up was 17.2 (11.1-21.3) years. CVEs wer…

A prospective study of food variety seeking in childhood, adolescence and early adult life

2005

Publication Inra prise en compte dans l'analyse bibliométrique des publications scientifiques mondiales sur les Fruits, les Légumes et la Pomme de terre. Période 2000-2012. http://prodinra.inra.fr/record/256699; International audience; This prospective study of food variety seeking among children was conducted between 1982 and 1999, with a follow-up in 2001–2002. Two- to three-year-old children were given a free choice of lunch foods in a nursery canteen. Their food choices were recorded and used to calculate early variety seeking scores, globally and by food group (vegetables, animal products, dairy products, starchy foods and combined dishes). The same subjects (n=339) were contacted in 2…