Search results for " syndrome"

Gender differences in the battle against COVID‐19: Impact of genetics, comorbidities, inflammation and lifestyle on differences in outcomes

2020

Abstract It has been over six months now since the entire globe was struck by the new Coronavirus Disease 2019 (COVID‐19; aka severe acute respiratory syndrome coronavirus 2 [SARS‐CoV‐2]), which has affected 215 nations. The medical and scientific communities continue to search for and study potential treatments for COVID‐19 as well as an effective vaccine. As of 21 June 2020, 11.4 million cases have been confirmed worldwide, with approximately 530,000 deaths. A large number of scientific papers have been produced, hundreds of thousands of patients have been hospitalized and studied, several treatments and vaccines are being tested in randomized clinical trials, social distancing regulation…

Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis

2022

Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…

Is HLA type a possible cancer risk modifier in Lynch syndrome?

2022

Lynch syndrome (LS) is the most common inherited cancer syndrome. It is inherited via a monoallelic germline variant in one of the DNA mismatch repair (MMR) genes. LS carriers have a broad 30-80% risk of developing various malignancies, and more precise, individual risk estimations would be of high clinical value, allowing tailored cancer prevention and surveillance. Due to MMR deficiency, LS cancers are characterized by the accumulation of frameshift mutations leading to highly immunogenic frameshift peptides (FSPs). Thus, immune surveillance is proposed to inhibit the outgrowth of MMR-deficient cell clones. Recent studies have shown that immunoediting during the evolution of MMR-deficient…

Subjective stress, objective heart rate variability-based stress, and recovery on workdays among overweight and psychologically distressed individual…

2015

Background: The present study aimed to investigate how subjective self-reported stress is associated with objective heart rate variability (HRV)-based stress and recovery on workdays. Another aim was to investigate how physical activity (PA), body composition, and age are associated with subjective stress, objective stress, and recovery. Methods: Working-age participants (n = 221; 185 women, 36 men) in this cross-sectional study were overweight (body mass index, 25.3-40.1 kg/m(2)) and psychologically distressed (>= 3/12 points on the General Health Questionnaire). Objective stress and recovery were based on HRV recordings over 1-3 workdays. Subjective stress was assessed by the Perceived St…

Impact of Platelet Reactivity in ACS Patients on Clinical Outcomes with Triple Antithrombotic Therapy

2021

Optimal antithrombotic therapy after percutaneous coronary intervention (PCI) in patients on oral anticoagulants (OAC) remains a clinical conundrum. In fact, combining an OAC with dual antiplatelet therapy (triple antithrombotic therapy, TAT) increases the risk of bleeding. Clopidogrel is the only thienopyridine recommended in TAT patients. Whether its response plays a relevant role in this setting remains uncertain. We aimed to evaluate the level of platelet reactivity inhibition (PRI) achieved by oral TAT in Acute Coronary Syndrome (ACS) patients undergoing PCI and its relationship with outcomes. We performed a multicenter prospective observational study and assessed PRI by vasodilator-st…

Plasma PAF-acetylhydrolase in patients with coronary artery disease: results of a cross-sectional analysis.

2003

Inflammation underlies both onset and perpetuation of atherosclerosis. Plasma lipoproteins transport the platelet-activating factor-acetylhydrolase (PAF-AH) with potentially anti-inflammatory activities. Our aim was to determine whether PAF-AH activity was associated with inflammatory markers and with coronary artery disease (CAD). PAF-AH activity and a panel of inflammatory mediators were measured in plasma of 496 patients with CAD and in 477 controls; 276 patients presented with stable angina pectoris and 220 with acute coronary syndrome (ACS). Individuals within the highest quartile of PAF-AH activity had an 1.8-fold increase in CAD risk [95% confidence interval (CI), 1.01 to 3.2; P = 0.…

Use of antiepileptic drugs in women with polycystic ovary syndrome

2005

Endothelial abnormalities in young women with PCOS: correlations with insulin resistance and decreased levels of serum adiponectin

2006

Abstract PURPOSE: Polycystic ovary syndrome (PCOS) is an extremely prevalent disorder in which elevated blood markers of cardiovascular risk and altered endothelial function have been found. This study was designed to determine if abnormal carotid intima-media thickness (IMT) and brachial flow-mediated dilation (FMD) in young women with PCOS may be explained by insulin resistance and elevated adipocytokines. METHODS: A prospective study in 50 young women with PCOS (age: 25.2 +/- 1 years; body mass index [BMI]: 28.7 +/- 0.8) and 50 matched ovulatory controls (age: 25.1 +/- 0.7 years; BMI: 28.5 +/- 0.5) was performed. Carotid IMT, brachial FMD, and blood for fasting glucose, insulin, leptin, …

Orienting of visuo-spatial attention in developmental dyslexia

2008

Los procesos inferenciales en lectores con síndrome de Down

2013

The aim of this work is to know if the source of the difficulty in making inferences, readers with Down syndrome, is in access to prior knowledge or constructing ideas from purely textual knowledge (based on Saldaña and Frith, 2002 for autism). Involved a sample of 20 students with Down syndrome and mild mental retardation (mean IQ = 60) and a control group of 20 children without cognitive deficits. They were matched as to their extent read metal age via Prueba de Evaluación del Retraso Lector (average 8 years). We created two experimental situations: a) subjects had to generate inferences based on physical knowledge, b) social inferences about knowledge. The ability to check and reaction t…