Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
La calidad de vida de los pacientes después de una cirugía cardiaca en un hospital de Colombia
Resumen: Objetivos: Conocer tanto la calidad de vida de los pacientes sometidos a una intervención cardiaca como los núcleos del EQ-5D-5L más afectados, y determinar qué factores clínicos se asocian a una mala calidad de vida.
Jhon Alexander Barrero +10 more
doaj +1 more source
rLOAD: does sex mediate the effect of acute antiplatelet loading on stroke outcome. [PDF]
BackgroundBiologic sex can influence response to pharmacologic therapy. The purpose of this proof-of-concept study was to evaluate the medicating effects of estrogen in the efficacy of acute antiplatelet loading therapy on stroke outcome in the rabbit ...
Compton, M Peggy +4 more
core +3 more sources
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo +9 more
wiley +1 more source
Introduction: Coronary artery bypass grafting (CABG) is the most frequently performed heart surgery in Brazil. Recent international guidelines recommend that national societies establish a database on the practice and results of CABG.
Rodrigo Pereira Paez +39 more
doaj +1 more source
Surgical treatment of intramural hematoma of the ascending aorta [PDF]
Introduction. Intramural hematoma of the aorta presents potentially fatal condition developing as a result of a vasa vasorum rupture. It is a major risk factor for developing a frank aortic dissection. Case Outline.
Šušak Stamenko +4 more
doaj +1 more source
The carotid body as a therapeutic target for the treatment of sympathetically mediated diseases [PDF]
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Abdala, Ana P +13 more
core +2 more sources
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Prevention and management strategies of cardiovascular and cerebrovascular comorbidity
Atherosclerosis, a chronic inflammatory disease of the arterial wall, serves as the pathophysiological basis for ischemic stroke and coronary heart disease, and stands as the primary cause of cardiovascular and cerebrovascular comorbidity. Both the heart
WANG Pei⁃jian, WEI Ming
doaj +1 more source
Descending aortic calcification increases renal dysfunction and in-hospital mortality in cardiac surgery patients with intraaortic balloon pump counterpulsation placed perioperatively : a case control study [PDF]
Introduction: Acute kidney injury (AKI) after cardiac surgery increases length of hospital stay and in-hospital mortality. A significant number of patients undergoing cardiac surgical procedures require perioperative intra-aortic balloon pump (IABP ...
Bingold, Tobias Michael +9 more
core +2 more sources

