Search results for "Predisposition"

Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

2019

Knowledge of genetic susceptibility to gastrointestinal cancers is constantly evolving with identification of new genes. Similarly, a better understanding of the genotype/phenotype relationship in patients with Lynch syndrome (LS) or familial adenomatous polyposis (FAP) is leading to more individualised surveillance recommendations. In addition, molecular profiling of patients with cancer has been shown to guide targeted therapies, such as immunotherapy. Specialists involved in the care of patients with gastrointestinal cancer should be familiar with the main hereditary cancer syndromes and refer patients to specialised cancer genetic units for adequate genetic counselling and to address sp…

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density.

2009

Polymorphisms of the CYP450 genes that encode for the enzymes that metabolize estrogen are linked to hormone-related cancers. We investigated the impact of two polymorphisms of the CYP1B1 gene previously reported to be associated with hormone-related disorders on estrogen metabolism and bone mineral density (BMD), another hormone-dependent condition, in women from different ethnic backgrounds. Four hundred sixty-eight postmenopausal Caucasian women, 220 from St. Louis, MO, USA (mean age=63.5+/-0.53 years) and 248 from Palermo, Italy (mean age=72.9+/-0.44 years) participated in the study. Measurements of urinary estrogen metabolites by enzyme-linked immunoassay, serum estradiol by ultrasensi…

Genetic variants in the MTHFR are not associated with fatty liver disease.

2020

The common missense sequence variants of methylenetetrahydrofolate reductase (MTHFR), rs1801131 (c.A1298C) and rs1801133 (c.C677T), favour the development of hyperhomocysteinemia and diminished DNA methylation. Previous studies, carried out in small series and with suboptimal characterization of the hepatic phenotype, tested the association of these genetic variants with fatty liver disease (FLD), with conflicting results. Here, we assessed the association of rs1801131 and rs1801133 with hepatic phenotype in the Liver Biopsy Cross-Sectional Cohort, a large cohort (n=1375 from Italy and 411 from Finland) of European individuals with suspect FLD associated with dysmetabolism. A total of 1786 …

Steatohepatitis and type 2 diabetes mellitus are influenced by genetic susceptibility to increased intestinal permeability in patients with non-alcoh…

2017

Non-alcoholic fatty liver disease pathogenesis: The present and the future

2008

Non-alcoholic fatty liver disease is the clinical hepatic expression of metabolic syndrome. The prevalence of non-alcoholic fatty liver disease is around 20-30%, and with a rapid increase in the metabolic risk factors in the general population, non-alcoholic fatty liver disease has become the most common cause of liver disease worldwide. A fraction (20-30%) of non-alcoholic fatty liver disease patients develop a potentially progressive hepatic disorder, namely non-alcoholic steatohepatitis, leading to end-stage liver disease. The pathogenesis of non-alcoholic fatty liver disease is not entirely understood, and even if insulin resistance is a major pathogenetic key, many other factors are im…

Diferencias entre hombres y mujeres en los trastornos de ansiedad: una aproximación psicobiológica

2009

Los trastornos de ansiedad son, en la actualidad, enfermedades psiquiátricas muy frecuentes e incapacitantes. Las mujeres en edad reproductiva son más vulnerables a desarrollar trastornos de ansiedad, aproximadamente entre 2 a 3 veces más que los hombres. Ser hombre o mujer no sólo puede influir en la prevalencia de los trastornos mentales, sino también en la manifestación y expresión de los síntomas, la voluntad para solicitar asistencia médica o psicológica, el curso de la enfermedad, incluso en la respuesta al tratamiento. Cada vez hay pruebas más sólidas de que existen diferencias entre ambos sexos respecto a la anatomía cerebral, la neuroquímica y los patrones de activación y respuesta…

Risk factors for refractory Kawasaki disease: clinical records of the paediatric clinic of palermo

2014

Kawasaki disease (KD) is an acute, self-limited febrile illness that mainly affecting small- to medium-sized vessels and occurs in early childhood. The etiology is currently unknown, however it likely results from an immunologic response triggered by microbial agents, with documented genetic susceptibility. Intravenous administration of immunoglobulin (IVIG) is the gold standard therapy for coronary arteritis in the acute phase of KD; some patients do not respond to IVIG and coronary aneurysms continue to develop in 5%. The most serious complications are coronary vasculitis and aneurysms. 15% of these patients do not respond to IVIG (Refractory KD:RMK) and have a higher risk of aneurysms.

Pharmacogenetics and Pharmacotherapy of Military Personnel Suffering from Post-traumatic Stress Disorder

2017

Background Posttraumatic stress disorder (PTSD) is a severe problem among soldiers with combating experience difficult to treat. The pathogenesis is still not fully understood at the psychological level. Therefore, genetic research became a focus of interest. The identification of single nucleotide polymorphisms (SNPs) may help to predict, which persons are at high risk to develop PTSD as a starting point to develop novel targeted drugs for treatment. Methods We conducted a systematic review on SNPs in genes related to PTSD pathology and development of targeted pharmacological treatment options based on PubMed database searches. We focused on clinical trials with military personnel. Results…

New susceptibility locus for coronary artery disease on chromosome 3q22.3

2009

We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in approximately 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

2020

Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of qua…