Adverse Effects in Patients with Intellectual and Developmental Disabilities Hospitalized at the University Clinical Hospital.

(1) Background: Providing the patient with the health care they need in a personalized and appropriate manner and without adverse effects (AEs) is a part of quality of care and patient safety. The aim of this applied research project was the assessment of AEs as a clinical risk in patients with high social vulnerability such as persons with intellectual and developmental disabilities (PwIDD). (2) Methods: A retrospective epidemiological cohort study was performed on exposed and unexposed groups (the control group) in order to estimate the incidence of AEs in PwIDDs and assess their importance for this category of patients.

Standardized incidence ratios and risk factors for cancer in patients with systemic sclerosis: Data from the Spanish Scleroderma Registry (RESCLE).

Aim: Patients with systemic sclerosis (SSc) are at increased risk of cancer, a growing cause of non-SSc-related death among these patients. We analyzed the increased cancer risk among Spanish patients with SSc using standardized incidence ratios (SIRs) and identified independent cancer risk factors in this population.

Material And Methods: Spanish Scleroderma Registry data were analyzed to determine the demographic characteristics of patients with SSc, and logistic regression was used to identify cancer risk factors.

Genetic susceptibility to telomere shortening through the rs2293607 polymorphism is associated with a greater risk of alcohol use disorder.

Telomere shortening is usually considered a biomarker of ageing. Harmful alcohol use promotes accelerated biological ageing and alcohol use disorders (AUDs) are associated with short telomere length (TL). This study was conducted to examine the relationship of TL to AUD and determine whether single nucleotide polymorphisms (SNPs) in TERC and TERT modulate this association.

Therapeutic and Preventive Efficacy of an Intervention on Workers in a Back School.

Back pain and its ailments are the main cause of absenteeism and sick leave. Furthermore, the cause of pain and disability in a large number of workers is unknown, and treatments are not effective in controlling it. For this reason, the Back Schools (BSs) provide theoretical and practical training to workers so that they can acquire knowledge and skills that will allow them to adequately manage their back problems, enabling them to recover their autonomy and prevent relapses.

Wernicke-Korsakoff syndrome and other diseases associated with thyamine deficiency.

Wernicke-Korsakoff syndrome is the best known consequence of thiamine deficiency, frequently associated with patients with chronic and excessive alcohol consumption, but it can be produced by any cause that produces thiamine deficiency. The disease is underdiagnosed so it is essential to have a high clinical suspicion, mainly in patients who do not have alcohol consumption as a risk factor. For this, the diagnosis continues to be eminently clinical, with the difficulty of high clinical variability.

PPAR-γ Gene Expression in Human Adipose Tissue Is Associated with Weight Loss After Sleeve Gastrectomy.

Background: The peroxisome proliferator-activated receptor (PPAR)-γ plays a key role in adipose tissue differentiation and fat metabolism. However, it is unclear which factors may regulate its expression and whether obese patients have changes in adipose tissue expression of PPAR-γor potential regulators such as miR-27. Thus, our aims were to analyze PPAR-γ and miR-27 expression in adipose tissue of obese patients, and to correlate their levels with clinical variables.

Association of Allelic Variants of the Reelin Gene with Autistic Spectrum Disorder: A Systematic Review and Meta-Analysis of Candidate Gene Association Studies.

Autistic spectrum disorder (ASD) is a complex neurodevelopmental disability with a genetic basis, and several studies have suggested a potential role of the reelin gene (RELN) in ASD susceptibility. Accordingly, genetic association studies have explored this potential association, but the results have been controversial thus far. For this reason, we assessed the association of four genetic variants of RELN (the 5'UTR CGG triplet repeat and polymorphisms rs736707, rs362691, and rs2229864) with ASD by means of a systematic review and meta-analysis.

Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis.

Background: Genetic predisposition plays an important role in the development of alcoholic pancreatitis (AP), with previous studies suggesting that genetics variants in certain genes, such asCYP2E1 and CTRC, partially explain individual susceptibility to this disease. Therefore, the aim of this work was to conduct a systematic review and meta-analysis of existing studies that analyzed how polymorphisms within CYP2E1 and CTRC genes influence the risk of AP.

Material And Methods: We performed a systematic review of studies that analyzed the genotype distribution of CYP2E1 and CTRC allelic variants among patients with AP and a group of controls.

Serodiscordant patients with systemic sclerosis: when antibody does not correspond to skin involvement.

Objectives: Diffuse cutaneous systemic sclerosis (dcSSc) is associated with anti-topoisomerase (ATA) whereas limited cutaneous (lcSSc) and sine scleroderma (ssSSc) are mainly associated with anti-centromere antibody (ACA). Serodiscordant patients were defined as lcSSc subjects with ATA, dcSSc with ACA, and ssSSc with ATA. The aim of the present study was to compare the clinical manifestations and prognosis between serodiscordant patients and their counterparts (those with lcSSc with ACA, dcSSc with ATA and ssSSc with ACA, respectively).

Association between allelic variants of the human glucocorticoid receptor gene and autoimmune diseases: A systematic review and meta-analysis.

Introduction: The human glucocorticoid receptor gene (NR3C1) is considered to play a role in the differences and sensitivities of the glucocorticoid response in individuals with autoimmune diseases. The objective of this study was to examine by means of a systematic review previous findings regarding allelic variants of NR3C1 in relation to the risk of developing systemic autoimmune diseases.

Methods: Studies that analysed the genotype distribution of NR3C1 allelic variants among patients with systemic autoimmune diseases were retrieved.

A Single Nucleotide Polymorphism in the RASGRF2 Gene Is Associated with Alcoholic Liver Cirrhosis in Men.

Background: Genetic polymorphisms in the RAS gene family are associated with different diseases, which may include alcohol-related disorders. Previous studies showed an association of the allelic variant rs26907 in RASGRF2 gene with higher alcohol intake. Additionally, the rs61764370 polymorphism in the KRAS gene is located in a binding site for the let-7 micro-RNA family, which is potentially involved in alcohol-induced inflammation.

Alcoholic liver disease and hepatitis C virus infection.

Alcohol consumption and hepatitis C virus (HCV) infection have a synergic hepatotoxic effect, and the coexistence of these factors increases the risk of advanced liver disease. The main mechanisms of this effect are increased viral replication and altered immune response, although genetic predisposition may also play an important role. Traditionally, HCV prevalence has been considered to be higher (up to 50%) in alcoholic patients than in the general population.

Association of allelic variants of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase with thrombosis or ocular involvement in Behçet's disease: a systematic review and meta-analysis.

Unlabelled: Thrombosis is frequent in patients with Behçet's disease (BD), although the exact cause remains uncertain. Some single nucleotide polymorphism (SNP) (G1691A in factor V gene, also called factor V Leiden [FVL], G20210A in prothrombin gene and C677T in methyltetrahydrofolate reductase [MTHFR] gene) have been associated with thrombosis and ocular involvement in BD with controversial results.

Aim: To assess the effects of FVL, prothrombin and MTHFR SNP variants in patients with BD and thrombosis and ocular involvement by means of a systematic review and meta-analysis.

Association of µ-opioid receptor (OPRM1) gene polymorphism with response to naltrexone in alcohol dependence: a systematic review and meta-analysis.

Previous studies have suggested that the effect of naltrexone in patients with alcohol dependence may be moderated by genetic factors. In particular, the possession of the G allele of the A118G polymorphism of the µ-opioid receptor gene (OPRM1) has been associated with a better response to naltrexone, although controversial results have been reported. The aim of this paper is to combine previous findings by means of a systematic review and a meta-analysis.

Val247Leu β2-glycoprotein-I allelic variant is associated with antiphospholipid syndrome: systematic review and meta-analysis.

Introduction: Previous studies have suggested that the possession of the Val/Val genotype of the Val247Leu polymorphism of the β(2)-glycoproteinI (β(2)-GPI) gene may be associated with antiphospholipid syndrome (APS), and, among patients with APS, with the production of anti-β(2)-GPI antibodies or the development of thrombosis. Given the controversial results reported, the aim of this work is to combine previous findings by means of a systematic review and a meta-analysis.

Methods: We retrieved studies analyzing the genotype of the above-mentioned polymorphism among patients with APS by means of electronic database search.