Search results for "Adolescent"
showing 10 items of 6718 documents
A Single Nucleotide Polymorphism in the Vitamin D Receptor Gene Is Associated With Decreased Levels of the Protein and a Penetrating Pattern in Crohn…
2018
Background: Vitamin D signaling modulates inflammation through the vitamin D receptor (VDR). The synonymous single nucleotide polymorphism (SNP) rs731236, located in the VDR gene, has been associated with a higher risk of Crohn's disease (CD). We analyzed differences in VDR expression levels among CD patients who were homozygous for allelic variants in this SNP and their relevance for disease course. Methods: DNA was extracted from blood samples of CD patients, and SNP genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. Fresh blood from patients was used to isolate peripheral blood mononuclear cells (PBMCs) or to determine the expression of adhesi…
High adherence to Mediterranean diet, but not individual foods or nutrients, is associated with lower likelihood of being obese in a Mediterranean co…
2017
Purpose: The aim of the present study was to evaluate the association between the Mediterranean diet and obesity in a Mediterranean cohort. Methods: The study population of MEAL (Mediterranean Healthy Eating, Ageing, and Lifestyle) study comprised 1814 men and women (18 + years) recruited in the city of Catania, southern Italy. Food intake was evaluated through a validated food frequency questionnaire and the Mediterranean diet adherence was assessed through the MEDI-LITE score. Results: Individuals highly adherent to the Mediterranean diet (highest quartile of the score) were less likely to be obese (OR 0.53, 95% CI 0.32, 0.89) despite there was no significant associations when considering…
Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals
2019
Abstract MC4R gene is a hypothalamic satiety control mediator in which mutations cause a monogenic form of obesity. The aim of this study was to perform a genetic screening to identify variations in the entire region of MC4R gene. A total of 236 unrelated and severely obese patients (BMI ≥ 40 kg/m2) with Spanish ancestry and severe overweight familiar history have been enrolled into the study. Seven MC4R gene variants were identified in the heterozygous state in 21 patients. Coding variants p.Thr101Ile and p.Ala259Asp are new and variants p.Ser30Phe, p.Val103Ile and p.Ile251Leu were previously described. Two variants have been also observed in the promoter region of the MC4R gene; the c.-24…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Personality and attitudinal correlates of meat consumption: Results of two representative German samples
2017
Abstract The vast amount of meat consumed in the Western world is critically discussed with regard to negative health consequences, environmental impact, and ethical concerns for animals, emphasizing the need to extend knowledge regarding the correlates of meat consumption in the general population. In the present article, we conducted two studies examining the associations between meat consumption and personality traits, political attitudes, and environmental attitudes in two large German representative samples (Ntotal = 8,879, aged 18–96 years). Cross-sectional data on frequency of meat consumption, socio-demographics, personality traits, and political and environmental attitudes were col…
Personality and eating habits revisited: Associations between the big five, food choices, and Body Mass Index in a representative Australian sample
2019
Abstract Objective Personality traits are related to health and health-related behavior such as eating habits. However, results are inconsistent regarding exactly which traits are related to eating habits. The eating habits assessed across studies are also not easily comparable, as they are based on different food items and on different computational methods. This study investigated eating habits and their relationship to both the Big Five personality traits and Body Mass Index (BMI; an objective criterion of health status) in a representative Australian sample. Method Participants were 13,892 adults from the Household, Income and Labour Dynamics in Australia survey. An analysis of 14 food …
Bone marrowVEGFCexpression is associated with multilineage dysplasia and several prognostic markers in adult acute myeloid leukemia, but not with sur…
2018
Vascular endothelial growth factor C (VEGFC) stimulates leukemia cell proliferation and survival, and promotes angiogenesis. We studied VEGFC expression in bone marrow samples from 353 adult acute myeloid leukemia (AML) patients and its relationship with several clinical, cytogenetic, and molecular variables. We also studied the expression of 84 genes involved in VEGF signaling in 24 patients. We found that VEGFC expression was higher in AML patients with myelodysplasia-related changes (AML-MRC) than in patients with non-AML-MRC. We also found an association between VEGFC expression and the patient cytogenetic risk group, with those with a worse prognosis having higher VEGFC expression leve…
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…
2019
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…
Extracellular Vesicles from Healthy Cells Improves Cell Function and Stemness in Premature Senescent Stem Cells by miR-302b and HIF-1α Activation.
2020
Aging is accompanied by the accumulation of senescent cells that alter intercellular communication, thereby impairing tissue homeostasis and reducing organ regenerative potential. Recently, the administration of mesenchymal stem cells (MSC)-derived extracellular vesicles has proven to be more effective and less challenging than current stem cell-based therapies. Extracellular vesicles (EVs) contain a cell-specific cargo of proteins, lipids and nucleic acids that are released and taken up by probably all cell types, thereby inducing functional changes via the horizontal transfer of their cargo. Here, we describe the beneficial properties of extracellular vesicles derived from non-senescent M…
Information sources and knowledge on vaccination in a population from southern Italy: The ESCULAPIO project
2016
Vaccine knowledge of the general population is shaped by different information sources and strongly influences vaccination attitudes and uptake. The CCM-Italian Ministry of Health ESCULAPIO project attempted to identify the role of such information sources, in order to address adequate strategies to improve information on vaccines and vaccine preventable diseases. In the present study, data on 632 adults from Southern Italy regarding information sources were collected, and their perceived and actual knowledge on vaccinations were compared and analyzed in relation to socio-demographic characteristics and information sources. The main reported reference sources were general practitioners (GPs…