Search results for "pediatric"
showing 10 items of 4528 documents
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
2017
To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
2021
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 pat…
Selenium status during pregnancy: Influential factors and effects on neuropsychological development among Spanish infants
2017
Selenium(Se) has been positively associated with neurodevelopment in early life. However, its margin of safety is rather narrow, and few prospective studies have evaluated its potential neurotoxic effects at intermediate levels. We aimed to explore the association between maternal Se concentrations and child neuropsychological development, including the genetic effect modification of the Se metabolizing gene INMT. Study subjects were 650 mother-child pairs from the Spanish Childhood and Environment Project (INMA, 2003-2005). Infant neuropsychological development was assessed around 12 months of age by the Bayley Scales of Infant Development. Sociodemographic and dietary characteristics were…
Evaluation of the effect of an intervention on the nutritional status of hospitalized patients
2017
Abstract Background and objectives To compare the nutritional status of a population of hospitalized patients, divided into 2 different groups, both at admission and hospital discharge, and to assess the influence of nutritional alteration during the hospital stay. Material and methods Quasi-experimental study comprising 2 groups of patients (N = 581): an intervention group (n = 303), in which nurses received specific training on managing care methodology, and a control group (n = 278), in which nurses continued their usual dynamics. Each group was made up of 2 care units with patients from both surgical and medical specialties. Inclusion criteria: patients admitted to the selected units wi…
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 …
Long-term functional and psychological recovery in a population of acute respiratory distress syndrome patients treated with VV-ECMO and in their car…
2019
Background Acute respiratory distress syndrome (ARDS) survivors are affected with long-term physical/mental impairments, with improvements limited mostly to the first year after intensive care (ICU) discharge. Furthermore, caregivers of ICU patients exhibit psychological problems after family-member recovery. We evaluated the long-term physical and mental recovery of ARDS survivors treated with veno-venous extracorporeal membrane oxygenation (VV-ECMO), and the long-term psychological impact on their caregivers. Methods Single-center prospective evaluation of a retrospective cohort of 75 ARDS patients treated with VV-ECMO during a seven-year period (25.10.2009-11.08.2016). Primary outcomes w…
Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency.
2012
Background Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is characterized by relapsing skin swellings, abdominal pain attacks, and, less frequently, potentially life-threatening laryngeal attacks. Objective This study determined the mortality of patients with and without the diagnosis of HAE-C1-INH and analyzed fatal laryngeal attacks. Methods A cohort of 728 patients from 182 families with HAE-C1-INH was evaluated for death cases by analyzing pedigrees. Detailed information on fatal laryngeal attacks in 36 patients was obtained by questioning relatives and treating physicians. Results Of the 214 patients who had died, 70 asphyxiated during a laryngeal attack. Mortality …
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…