Search results for "PHENOTYPES"
showing 10 items of 66 documents
Influence of the Novelty-Seeking Endophenotype on the Rewarding Effects of Psychostimulant Drugs in Animal Models
2015
Novelty seeking (NS), defined as a tendency to pursue novel and intense emotional sensations and experiences, is one of the most relevant individual factors predicting drug use among humans. High novelty seeking (HNS) individuals present an increased risk of drug use compared to low novelty seekers. The NS endophenotype may explain some of the differences observed among individuals exposed to drugs of abuse in adolescence. However, there is little research about the particular response of adolescents to drugs of abuse in function of this endophenotype, and the data that do exist are inconclusive. The present work reviews the literature regarding the influence of NS on psychostimulant reward…
Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults
2018
Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…
On the genetics of the pi serum proteins.
1970
The authors report family studies (51 families with 134 children) on the inheritance of the Pi phenotypes. Combining these data with a Norwegian family material (77 families with 323 children) published by Fagerhol and Gedde-Dahl (1969) a total of 128 families with 457 children is now available, which allows the following conclusion: The Pi phenotypes are inherited by a simple codominant mode of heredity and they are determined by a set of (at least nine) alleles. As up to now no exception to the role of inheritance has been observed, the application of the Pi system in cases of disputed paternity seems to be discussible. Some methodological problems in connection with this are shown.
Cluster analysis of clinical data reveals three pediatric eosinophilic gastrointestinal disorder phenotypes
2022
Primary eosinophilic gastrointestinal disorders (EGIDs) are a spectrum of emerging inflammatory diseases, which may involve any part of the gastrointestinal (GI) tract and lead to a pathological eosinophilic mucosal infiltration.1,2 Based on the anatomical site of the eosinophil inflammation, EGIDs are classified into eosinophilic esophagitis (EoE) and nonesophageal EGIDs.This study aimed to characterize EGIDs heterogeneity by performing cluster analysis on a cohort of children and adolescents followed at the Pediatric Center for Eosinophilic Gastrointestinal Disorders (CPED) in Pavia, Italy, using an extensive pediatric primary care database from our University Hospital
Hybridization in Capparis spinosa L.: Molecular and morphological evidence from a Mediterranean island complex
2014
Inter-Simple Sequence Repeat (ISSR) molecular markers and morphological analysis were used in order to characterize wild populations and cultivated forms of orphan crop species Capparis spinosa L. in a Mediterranean island complex. Nineteen wild populations belonging to two different subspecies, C. spinosa subsp. spinosa and subsp. rupestris, were sampled in different environments in Sicily and the surrounding islets Lampedusa, Pantelleria and Salina. Different biotypes cultivated in Pantelleria and Salina were analyzed. Six ISSR primers were selected for genetic characterization, and all clear and reproducible bands were scored and analyzed. Among the 47 ISSR bands obtained, 97.5% were pol…
Do the current guidelines for heart failure diagnosis and treatment fit with clinical complexity?
2022
Heart failure (HF) is a clinical syndrome defined by specific symptoms and signs due to structural and/or functional heart abnormalities, which lead to inadequate cardiac output and/or increased intraventricular filling pressure. Importantly, HF becomes progressively a multisystemic disease. However, in August 2021, the European Society of Cardiology published the new Guidelines for the diagnosis and treatment of acute and chronic HF, according to which the left ventricular ejection fraction (LVEF) continues to represent the pivotal parameter for HF patients’ evaluation, risk stratification and therapeutic management despite its limitations are well known. Indeed, HF has a complex pathophys…
Immune-mediated change in the expression of a sexual trait predicts offspring survival in the wild.
2011
9 pages; International audience; BACKGROUND: The "good genes" theory of sexual selection postulates that females choose mates that will improve their offspring's fitness through the inheritance of paternal genes. In spite of the attention that this hypothesis has given rise to, the empirical evidence remains sparse, mostly because of the difficulties of controlling for the many environmental factors that may covary with both the paternal phenotype and offspring fitness. Here, we tested the hypothesis that offspring sired by males of a preferred phenotype should have better survival in an endangered bird, the houbara bustard (Chlamydotis undulata undulata). METHODOLOGY/PRINCIPAL FINDINGS: We…
Is processing speed a valid neurocognitive endophenotype in bipolar disorder? Evidence from a longitudinal, family study.
2021
[Background] Substantial evidence supports the existence of neurocognitive endophenotypes in bipolar disorder (BD), but very few longitudinal studies have included unaffected relatives. In a 5-year, follow-up, family study, we have recently suggested that deficits in manual motor speed and visual memory could be endophenotype candidates for BD. We aimed to explore whether this also applies to processing speed.
MONOCYTES MACROPHAGES EXPRESSION OF Ml OR M2 PHENOTYPES IN LATENT TUBERCULOSIS, ACTIVE DISEASES AND UNINFECTED MIGRANTS AND SICILIAN PATIENTS
2016
The high grade ofphenotype plasticity of monocytes macrophages, is resumed in two different cell subsets named M1 or M2. Several studies of microbial infections in vitro and in vivo, showed that, during the early stage of infection, macrophages are polarized toward Ml phenotype that should be protective against pathogen, while during the chronic phase of infection/disease macrophages polarize toward M2 phenotype to avoid damages from a prolonged Ml type activation.Obiettivo: In order to investigate if Mycobacterium tuberculosis infection can drive circulating monocytes toward the expression of Ml or M2 phenotypes, we have analyzed by flow cytometry monocytes obtained from patients with acti…
DNA methylation in childhood asthma
2018
Background: DNA methylation profiles associated with childhood asthma might provide novel insights into disease pathogenesis. We did an epigenome-wide association study to assess methylation profiles associated with childhood asthma. Methods: We did a large-scale epigenome-wide association study (EWAS) within the Mechanisms of the Development of ALLergy (MeDALL) project. We examined epigenome-wide methylation using Illumina Infinium Human Methylation450 BeadChips (450K) in whole blood in 207 children with asthma and 610 controls at age 4–5 years, and 185 children with asthma and 546 controls at age 8 years using a cross-sectional case-control design. After identification of differentially m…