Search results for "Association."
showing 10 items of 1723 documents
Changes in parental smoking during pregnancy and risks of adverse birth outcomes and childhood overweight in Europe and North America
2020
Background Fetal smoke exposure is a common and key avoidable risk factor for birth complications and seems to influence later risk of overweight. It is unclear whether this increased risk is also present if mothers smoke during the first trimester only or reduce the number of cigarettes during pregnancy, or when only fathers smoke. We aimed to assess the associations of parental smoking during pregnancy, specifically of quitting or reducing smoking and maternal and paternal smoking combined, with preterm birth, small size for gestational age, and childhood overweight. Methods and findings We performed an individual participant data meta-analysis among 229,158 families from 28 pregnancy/bir…
Socioecological correlates of perceived motor competence in 5- to 7-year-old Finnish children
2019
We investigated child, family, and environmental factors associated with young children's perceptions of locomotor (LM) and object control (OC) skills. The participants comprised 472 children (6.22 ± 0.63) and their parents. The children were assessed for their perception of motor competence in LM and OC skills (using the pictorial scale of Perceived Movement Skill Competence for young children), and actual motor competence (Test of Gross Motor Development 3rd edition and Körperkoordinationstest Für Kinder). Anthropometrics were calculated using the children's body mass index standard deviation scores. A parent questionnaire included questions about child factors (sex, child's independent w…
The role of social support in the association between gambling, poor health and health risk-taking
2016
Aims: Studies have shown that gambling is associated with poor health and health risk-taking behaviour. However, little is known about those factors that can influence the association between gambling, health risk-taking and health. Using a population-based School Health Promotion Study of eighth- and ninth-grade Finnish boys and girls ( N = 62,956), we investigated the relationships between gambling frequency, health risk-taking and poor health as well as whether social support from parents, friends and school staff could mediate these associations. Methods: Path analysis was used to discover direct and indirect effects of health, health risk-taking and gambling. Results: Social support f…
Externalizing Problem Behaviors and Headache: A Follow-up Study of Adolescent Finnish Twins
2004
Objective.To examine the association of teacher- and parent-rated behavior with headache in a prospective follow-up study of adolescent Finnish twins.Methods.Questionnaire data were collected during 1995–2001 from a nationwide sample of Finnish families of 11-year-old twins who were born 1983–1987 (n = 5393) and again at age of 14. Psychological factors were measured by using parents’ and teachers’ ratings of a 37-item multidimensional rating instrument at the ages of 11 and 14.Results.At age 11, headache frequency (5 categories) was associated with total scales of externalizing and internalizing problem behaviors and adaptive behaviors, assessed by parents, but only with externalizing prob…
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
2012
Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any sig…
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
2013
International audience; OBJECTIVE: To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS). STUDY DESIGN: Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations. RESULTS: Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation…
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP
2010
Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature
2014
Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents we…
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
2014
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…
Clinical features and follow-up in patients with 22q11.2 deletion syndrome
2014
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…