Search results for "and Child Health"
showing 10 items of 1781 documents
Molecular characterization of congenital myasthenic syndromes in Spain.
2017
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far.. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, …
Criminological differences between child pornography offenders arrested in Spain.
2019
Abstract Background Lack of studies on CP offenders from non-English speaking countries motivated the analysis of the profile of adult men arrested in Spain for such crimes (N = 347). Objective The current study examined differences between groups of CP users according to their criminal history (i.e., CP-only offenders, CP offenders with other nonviolent or non-sexually violent crimes, and dual offenders). Methods Analyses of case investigation files were performed across seven key areas: (1) sociodemographic characteristics, (2) criminological data, (3) characteristics of index CP offending, (4) characteristics of CP collections, (5) access to children, (6) indication of pedophilic or hebe…
Monitoring recent trends: The prevalence of disclosure of sexual abuse in a representative sample of the German population based on indicator 16.2.3 …
2019
Abstract Background The monitoring of trends is important. The United Nations (UN) have defined indicators to monitor the proportion of young men and women who have experienced sexual abuse before the age of 18 (Indicator 16.2.3) as part of their global agenda, the Sustainable Development Goals (SDG). Objective To examine recent trends in the disclosure of sexual abuse based on the indicator 16.2.3 of the SDG. Participants and setting A total of 7530 participants across Germany (51.1% female) were included. The participants were between 14 and 94 years old. Methods Three representative surveys were conducted using identical methods in 2010 (N = 2504), 2016 (N = 2510) and 2018 (N = 2516). A …
Behavioral Precursors to Accidents and Resulting Physical Impairment
1995
The main goal of the study was to determine, within a model of emotional and behavioral regulation, if there are developmental precursors to accidents and resulting physical impairment. Data collected at ages 8 and 14 with 147 males and 142 females using peer nomination and teacher rating were related to the number of types of accidents the subjects had been in and impairment as a result of an accident by the age of 27 when the subjects were interviewed on their health. The results showed that 44% of the men and 14% of the women had been in an accident. Severe effects on health were obtained for 19% of the men and 5% of the women. Accidents and impairment were most frequent among individual…
Increased prevalence of autoimmune diseases in first-degree relatives of patients with celiac disease.
2003
The prevalence of autoimmune disorders is increased in patients with celiac disease (CD), and it is unknown whether their first-degree relatives also have a high risk of autoimmune disorders.To assess the prevalence of autoimmune diseases in first-degree relatives of CD patients, the authors looked for autoimmune disorders in 225 first-degree relatives of 66 children with CD (group A) and in 232 first-degree relatives of 68 healthy children (group B). For both groups, serologic screening for CD was performed through antiendomysium (EMA) and tissue transglutaminase autoantibodies (tTGAA). EMA- and tTGAA-positive subjects were offered an intestinal biopsy. The age at onset of autoimmune disea…
Emotional distress in family caregivers of adolescents with bronchial asthma: analysis of its predictors
2017
Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers.Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma.Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emot…
Genetic and environmental influences on longitudinal changes in leisure-time physical activity from adolescence to young adulthood.
2013
The aim of this study was to estimate genetic and environmental influences on the longitudinal evolution of leisure-time physical activity habits from adolescence to young adulthood. Data were gathered at four time points, at mean ages 16.2, 17.1, 18.6, and 24.5 years. At baseline, the sample comprised 5,216 monozygotic and dizygotic twins, born 1975–1979, and, at the last follow-up point, of 4,531 monozygotic and dizygotic twins. Physical activity volume was assessed as frequency of leisure-time physical activity and participants were categorized into three groups: inactive, moderately active, and active. Genetic and environmental influences were estimated using a multivariate, longitudina…
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
2012
Objective To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. Study design In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and genotype–phenotype correlation. Results No breakpoint was recurrent. Single metaphases with loss of the ring, double rings, or secondarily rearranged rings were found in some cases, but true mosaicism was present in none of these cases. In 3 patients, additional duplications in 18p (of 1.4 Mb, 2 …
Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses
1995
In echocardiographic and necropsy studies nodular thickening of the mitral valve and, less frequently, of the aortic valve has been found in 60%-90% of patients with mucopolysaccharidoses (MPS). Little is known about the haemodynamic consequences of these morphological changes. In this study 84 unselected patients with different enzymatically proven MPS and 84 age and sex matched, healthy persons were studied prospectively by colour Doppler flow mapping. The patients' age ranged from 1 to 47 years (median 8.1 years). Mitral and aortic regurgitation were defined as a holosystolic or holodiastolic jet originating from the valve into the left atrium or the left ventricular outflow tract, respe…
Associations between adverse childhood experiences and adversities later in life. Survey data from a high-risk Norwegian sample
2019
Abstract Background A history of childhood abuse and neglect (CAN) is associated with exposure to later negative life events. CAN at an early age, multiple cooccurring exposures (cumulative events), and a high severity and frequency of exposure have potential detrimental long-term effects. Objective The present study examines the relationship between the severity of CAN and the prevalence of school difficulties and hardship at school, adult adversity and mental health. Participants and Settings: Participants were recruited from in- and outpatient mental health or substance abuse treatment facilities, child protective services (CPS), and prisons (N = 809, age range = 13–66, mean age = 27.62,…