Browsing by Subject "heredity"
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Arteriovenous Malformations: Congenital or Acquired Lesions?
(2020)Objective: Arteriovenous malformations (AVMs) were believed to be congenital. However, an increasing number of de novo AVM cases have questioned this doctrine. Methods: A consensus meeting of international experts attempted ... -
Drug-Induced Skin Adverse Reactions: The Role of Pharmacogenomics in Their Prevention
(2018)Adverse drug reactions (ADRs) affect many patients and remain a major public health problem, as they are a common cause of morbidity and mortality. It is estimated that ADRs are responsible for about 6% of hospital admissions ... -
Editorial for special issue “genetic basis and epidemiology of myopathies”
(2021)We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology ... -
Epigenetic, genetic and maternal effects enable stable centromere inheritance
(2022)Centromeres are defined epigenetically by the histone H3 variant CENP-A. The propagation cycle by which pre-existing CENP-A nucleosomes serve as templates for nascent assembly predicts the epigenetic memory of weakened ... -
Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
(2022)Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes ... -
FcγRIIa-H131R variant is associated with inferior response in diffuse large B cell lymphoma: A meta-analysis of genetic risk
(2016)Purpose: Low-affinity variants FcγRIIIa-V158F and FcγRI-Ia-H131R may alter response to rituximab-based chemotherapy in diffuse large B-cell lymphoma (DLBCL) but available clinical evidence is inconclusive. Our purpose was ... -
Genetic determinants of C1 inhibitor deficiency angioedema age of onset
(2017)Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ... -
The genetic map of diabetic nephropathy: Evidence from a systematic review and meta-analysis of genetic association studies
(2020)Despite the extensive efforts of scientists, the genetic background of diabetic nephropathy (DN) has not yet been clarified. To elucidate the genetic variants that predispose to the development of DN, we conducted a ... -
Genetics of Hereditary Angioedema Revisited
(2016)Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ... -
Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans
(2019)Aims: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have ... -
Infections as a cause of autoimmune rheumatic diseases
(2016)Exogenous and endogenous environmental exposures and particularly infections may participate in the breakage of tolerance and the induction of autoimmunity in rheumatic diseases. Response to infections apparently occurs ... -
Intergenic snps in obstructive sleep apnea syndrome: Revealing metabolic, oxidative stress and immune-related pathways
(2021)There is strong evidence supporting the contribution of genetic factors to obstructive sleep apnea syndrome (OSAHS) susceptibility. In the current study we analyzed both in a clinical cohort and in silico, four single ... -
Molecular determinants of radiosensitivity in normal and tumor tissue: A bioinformatic approach
(2017)Although radiation therapy is a treatment of choice for cancer, a high percentage of patients develop adverse effects in normal tissue following radiotherapy, mainly, due to genetic factors. Notably, although it is established ... -
Non-genetic risk and protective factors and biomarkers for neurological disorders: a meta-umbrella systematic review of umbrella reviews
(2021)Background: The etiologies of chronic neurological diseases, which heavily contribute to global disease burden, remain far from elucidated. Despite available umbrella reviews on single contributing factors or diseases, no ... -
Pathogenesis of chronic heart failure: cardiovascular aging, risk factors, comorbidities, and disease modifiers
(2022)Chronic heart failure (HF) is rare in the young and common in the elderly in the Western world. HF in the young is usually due to specific causes, predominantly or exclusively affecting the heart (adult congenital heart ... -
Primary biliary cirrhosis: Family stories
(2011)Primary biliary cirrhosis (PBC) is a chronic immune-mediated cholestatic liver disease of unknown aetiology which affects mostly women in middle age. Familial PBC is when PBC affects more than one member of the same family, ... -
Regulatory B and T lymphocytes in multiple sclerosis: friends or foes?
(2018)Current clinical experience with immunomodulatory agents and monoclonal antibodies in principle has established the benefit of depleting lymphocytic populations in relapsing–remitting multiple sclerosis (RRMS). B and T ... -
A systematic review and meta-analysis of pharmacogenetic studies in patients with chronic kidney disease
(2021)Chronic kidney disease (CKD) is an important global public health problem due to its high prevalence and morbidity. Although the treatment of nephrology patients has changed considerably, ineffectiveness and side effects ... -
T-cells and B-cells in systemic sclerosis
(2010)Systemic sclerosis (SSc) is characterized by activation of fibroblasts with extensive deposition of collagen, by small vessel vasculopathy with fibrointimal proliferation, and activation of the immune system, with hyper-γ- ... -
Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independently of body mass index
(2022)Objectives: Observational analyses suggest that high bone mineral density (BMD) is a risk factor for osteoarthritis (OA); it is unclear whether this represents a causal effect or shared aetiology and whether these relationships ...