Search results for "report"
showing 10 items of 2364 documents
Associations of Leisure-Time Physical Activity Trajectories with Fruit and Vegetable Consumption from Childhood to Adulthood: The Cardiovascular Risk…
2019
A physically active lifestyle and a diet rich in vegetables and fruits have a central role in promoting health. This study examined the associations between leisure-time physical activity (LTPA) trajectories and fruit and vegetable consumption (FVC) from childhood to middle age. The data were drawn from the Cardiovascular Risk in Young Finns Study with six age cohorts. Participants were 9 to 18 years (n = 3536
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019
VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved resid…
A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with …
2011
Dual oxidases (DUOX1 and DUOX2) play a crucial role in the generation of hydrogen peroxide required in the oxidation of iodide and the synthesis of thyroid hormone. Heterodimerization with specific maturation factors (DUOXA1 and DUOXA2) is essential for the maturation and function of the DUOX enzyme complexes. Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH.We now report an infant with transient CH due to a complex genetic alteration of the DUOX/DUOXA system.Our patient was born to euthyroid nonconsanguineous parents and presented with an elevated TSH…
Perceived stress and reference ranges of hair cortisol in healthy adolescents
2019
BackgroundChronic stress during adolescence has usually been evaluated through subjective measures, leaving aside objective measures such as hair cortisol concentrations. Therefore, the aim of this study was to provide reference ranges for hair cortisol concentrations by sex and age and to study the relationship between subjective and objective measures of stress and temporal stability.MethodsThe participants were 170 adolescents aged between 12 and 14 years (mean = 12.78 years; standard deviation = 0.71 years; 52.40% girls) who completed the Perceived Stress Scale 4 and had their hair sampled.ResultsThe results revealed hair cortisol concentrations ranging from 0.07 pg/mg to 9.54 pg/mg. Su…
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the s…
2021
Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of S…
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020
Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…
Cumulative Prognostic Score Predicting Mortality in Patients Older Than 80 Years Admitted to the ICU
2019
OBJECTIVES To develop a scoring system model that predicts mortality within 30 days of admission of patients older than 80 years admitted to intensive care units (ICUs). DESIGN Prospective cohort study. SETTING A total of 306 ICUs from 24 European countries. PARTICIPANTS Older adults admitted to European ICUs (N = 3730; median age = 84 years [interquartile range = 81‐87 y]; 51.8% male). MEASUREMENTS Overall, 24 variables available during ICU admission were included as potential predictive variables. Multivariable logistic regression was used to identify independent predictors of 30‐day mortality. Model sensitivity, specificity, and accuracy were evaluated with receiver operating characteris…
Differential regulation of interleukin-10 production by genetic and environmental factors – a twin study
2002
Interleukin-10 (IL-10) has a critical role in the regulation of immune responses. The relative contribution of genetic and environmental factors to IL-10 production is under debate. We performed a twin study in 246 monozygotic and dizygotic twins to assess the heritability of IL-10 production after LPS stimulation in whole blood. In addition, the influence of promoter single nucleotide polymorphisms (-1082, -819 and -592) on transcriptional activity and their binding to nuclear factors was studied in luciferase reporter gene and electrophoretic mobility shift assays. IL-10 production showed a genetic determination with a heritability of 0.5. Decreasing body mass index (BMI), smoking and fem…
Sedentary behavior and perceived stress among adults aged ≥50 years in six low- and middle-income countries.
2018
Background:\ud Sedentary behavior and perceived stress are both negatively associated with physical and mental health. Little is known about the association between sedentary behavior and \ud perceived stress, and there is a particular paucity of data on people aged ≥50 years from low- and middle-income countries (LMICs). \ud Methods:\ud We analyzed cross-sectional, community-based data from 34,129 individuals aged ≥50 years [mean age 62.4 (SD=16.0) years, 52% females] from six LMICs. Perceived stress was assessed using the Perceived Stress Scale and time spent sedentary per day was self-reported. Multivariable linear regression analyses were conducted, adjusting for important socio economi…
Power of lower extremities is most important determinant of agility among physically inactive or active adult people
2018
OBJECTIVE The purpose of this cross-sectional study was to determine the relationships between agility, running speed, jumping height and length, body mass index, self-report pain in back and in lower extremities, personal factors as self-report health and fitness, and leisure time physical activity in physically inactive or active adult people. METHODS Altogether, 233 healthy subjects, 149 women (43.0 ± 7.3 years) and 84 men (44.0 ± 7.7 years), participated into study. Outcome measures were described in the International Classification of Functioning, Disability and Health domains. RESULTS Multiple regression analysis showed that jumping length explained 24.6% and 15.3% of the variance ass…