Search results for " ASSOCIATION"
showing 10 items of 996 documents
The Neutrophil-to-Lymphocyte Ratio is Related to Disease Activity in Relapsing Remitting Multiple Sclerosis
2019
: Background: The role of the neutrophil-to-lymphocyte ratio (NLR) of peripheral blood has been investigated in relation to several autoimmune diseases. Limited studies have addressed the significance of the NLR in terms of being a marker of disease activity in multiple sclerosis (MS). Methods: This is a retrospective study in relapsing&ndash
Chronic skin disease and levels of physical activity in 17 777 Spanish adults: a cross-sectional study
2021
Background: To date there is limited literature on the prevalence of chronic skin conditions and its association with levels of physical activity (PA) in Spain. Aim: To determine the prevalence of chronic skin disease and to compare levels of PA between people with and without chronic skin disease in a large representative sample of Spanish adults aged 15–69 years. Methods: Data from the Spanish National Health Survey 2017 were analysed. Chronic skin disease was assessed using a yes/no question. PA was measured using the short form of the International Physical Activity Questionnaire. Total PA metabolic equivalent of task min/week were calculated, and PA was included in the analyses as a co…
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders
2008
The gastrin-releasing peptide receptor (GRPR) was implicated for the first time in the pathogenesis of Autism spectrum disorders (ASD) by Ishikawa-Brush et al. [Ishikawa-Brush et al. (1997): Hum Mol Genet 6: 1241-1250]. Since this original observation, only one association study [Marui et al. (2004): Brain Dev 26: 5-7] has further investigated, though unsuccessfully, the involvement of the GRPR gene in ASD. With the aim of contributing further information to this topic we have sequenced the entire coding region and the intron/exon junctions of the GRPR gene in 149 Italian autistic patients. The results of this study led to the identification of four novel point mutations, two of which, that…
HCV infection and oral lichen planus: a weak association when HCV is endemic.
2004
Oral lichen planus (OLP), an immune-mediated disorder, has been reported as an extra-hepatic manifestation of Hepatitis C virus (HCV) infection, especially in HCV hyperendemic areas such as southern Europe and Japan. The aim of this study was to investigate from an epidemiological standpoint whether HCV infection is an important factor affecting the relative risk of OLP in a Mediterranean population or whether this relates to the degree of HCV endemicity. Two cohorts of OLP patients resident in two different regions of southern Italy (Campania and Sicily; n = 859) were evaluated for HCV infection status and categorized into five age classes to respective region-matched controls. No signific…
Adrenomedullin and arterial stiffness: integrative approach combining monocyte ADM expression, plasma MR-Pro-ADM, and genome-wide association study.
2014
Background— Adrenomedullin (ADM) is a circulating vasoactive peptide involved in vascular homeostasis and endothelial function. Single nucleotide polymorphisms of the ADM gene are associated with blood pressure variability, and elevated levels of plasma midregional proadrenomedullin (MR-pro-ADM) are associated with cardiovascular diseases. Methods and Results— We investigated the sources of variability of ADM gene expression and plasma MR-pro-ADM concentrations in the general population, and their relationship with markers of atherosclerosis. MR-pro-ADM levels were assessed in 4155 individuals who underwent evaluation of carotid intima-media thickness and arterial rigidity (reflection inde…
The cortisol awakening response at admission to hospital predicts depression severity after discharge in MDD patients.
2019
Major Depressive Disorder (MDD) is associated with hypothalamic-pituitary-adrenal axis (HPA) dysregulation and altered cortisol awakening response (CAR), a non-invasive biomarker for HPA axis reactivity. We theorized that the CAR resembles the accumulated effects of depression over time, and may therefore predict depressive symptom severity once patients return home following inpatient treatment. Two studies are reported. In Study 1 (n = 101; 57% female), the CAR was measured at intake and self-ratings of depression severity was assessed six weeks following discharge. Study 2 (n = 127; 58% female) was a replication and extension of Study 1 where a follow-up assessment of self-rated depressi…
Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)
2010
Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gene-related peptide (CGRP) and substance P (SP) that are released from nociceptors. Genetic factors may play a role in CRPS as was suggested by the occurrence of familial cases and several genetic association studies investigating mainly the human leukocyte antigen (HLA) system. Here we investigated the role of neutral endopeptidase (NEP), a key enzyme in neuropeptide catabolism. NEP dysfunction resulting in reduced inactivation of neuropeptides m…
Focal therapy in localised prostate cancer: Real-world urological perspective explored in a cross-sectional European survey
2018
Introduction: The urological community's opinion over focal therapy (FT) for prostate cancer (PCa) has never been assessed. Our aim was to investigate the current opinion on FT in the European urological community. Methods: A 25 -item questionnaire was devised according to the Cherries checklist and distributed through SurveyMonkey using a web link from November 2016 to October 2017. After a pilot validation (n=40 urologists), the survey was sent through EAU and 9 other national European urological societies mailing list. Twitter was also used. Results: We received 484 replies from 51 countries. Almost half (44.8%, n=217) stated FT would represent a step forward, and 52.0% (n=252) would sug…
End-of-life situations in cardiology: a qualitative study of physicians' and nurses' experience in a large university hospital.
2018
IF 2.335 (2-year Impact Factor); International audience; Background: rofessional societies call for integration of end-of-life discussions early in the trajectory of heart failure, yet it remains unclear where current practices stand in relation to these recommendations. We sought to describe the perceptions and attitudes of caregivers in cardiology regarding end-of-life situations.Methods: e performed a qualitative study using semi-directive interviews in the cardiology department of a university teaching hospital in France. Physicians, nurses and nurses’ aides working full-time in the department at the time of the study were eligible. Participants were asked to describe how they experienc…