93 documents found, page 1 of 10

Avaliação externa da qualidade do diagnóstico pré-natal de anomalias cromossómi...

Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...

Distal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.

Deleção intersticial 7q33q34 em fetos de gravidez gemelar monocoriónica diamnió...

Introdução: O acompanhamento de gestações gemelares pode revelar-se desafiante se houver alterações ecográficas e discrepâncias entre os fetos. Deleções intersticiais 7q, abrangendo diferentes regiões e apresentando tamanho variável, são raras, e encontram-se quase exclusivamente descritas em pós-natal. Objectivos: Apresentamos o caso de uma gestante, de 32 anos, com gravidez gemelar monocoriónica e diamniótica...

Acute total occlusion of the unprotected left main coronary artery: Patient cha...

Introduction and objectives: Acute total occlusion of the unprotected left main coronary artery (LMCA) is a dramatic event. There are limited data regarding this population. We aimed to describe the clinical presentation and outcomes of patients and to determine predictors of in-hospital mortality. Methods: This retrospective study included patients presenting with acute (<12 h) myocardial infarction due to tot...

From Stress to Sick(le) and Back Again–Oxidative/Antioxidant Mechanisms, Geneti...

Sickle cell anemia (SCA) is a genetic disease caused by the homozygosity of the HBB:c.20A>T mutation, which results in the production of hemoglobin S (HbS). In hypoxic conditions, HbS suffers autoxidation and polymerizes inside red blood cells, altering their morphology into a sickle shape, with increased rigidity and fragility. This triggers complex pathophysiological mechanisms, including inflammation, cell a...

Eleições legislativas na Bulgária (2 de Outubro de 2022 e 2 de Abril de 2023)

Polis. - ISSN 0872-8208. - S. 2, n.º 7 (janeiro-junho 2023).

VCAM1, HMOX1 and NOS3 differential endothelial expression may impact sickle cel...

Endothelial dysfunction plays a major role in sickle cell anemia (SCA) systemic vasculopathy, with upregulation of adhesion molecules (e.g., VCAM-1), decreased nitric oxide bioavailability, and oxidative stress. We aimed to assess the modulation role of pro-inflammatory and pro-oxidative stimuli on endothelial VCAM1, NOS3, and HMOX1 expression. We also evaluated the effect of the main SCA therapeutic agent, hyd...

Prenatal Diagnosis of Congenital Heart Disease IN A Fetus with A 8p23.1 Interst...

Introduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term births, and it is ten times higher in preterm infants (8.3%). The atrioventricular septum defect (AVDS) is the most common CHD detectable in utero. AVSD is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndr...

Differential Endothelial VCAM1 Expression and Implications for Sickle Cell Anem...

Background: Vascular disease is systemic in sickle cell anemia (SCA), with profound effects in organs like the brain,where stroke is the most severe end of the cerebral vasculopathy spectrum. Endothelial dysfunction is an important pathobiological mechanism in SCA systemic vasculopathy, with upregulation of adhesion molecules (e.g., VCAM-1), lower nitric oxide bioavailability, and increased oxidative stress. In...

VCAM1, HMOX1 and NOS3 differential endothelial expression may impact sickle cel...

Endothelial dysfunction plays a major role in sickle cell anemia (SCA) systemic vasculopathy, with upregulation of adhesion molecules (e.g., VCAM-1), decreased nitric oxide bioavailability, and oxidative stress. We aimed to assess the modulation role of pro-inflammatory and pro-oxidative stimuli on endothelial VCAM1, NOS3, and HMOX1 expression. We also evaluated the effect of the main SCA therapeutic agent, hyd...