A5077840574- Muscle Physiology and Disorders
- Prosthetics and Rehabilitation Robotics
- Lipid metabolism and disorders
- Adipose Tissue and Metabolism
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cardiac Structural Anomalies and Repair
- Aortic Disease and Treatment Approaches
- Coronary Artery Anomalies
- Aortic aneurysm repair treatments
- Coronary Interventions and Diagnostics
- Cerebrovascular and Carotid Artery Diseases
National University of Formosa
2022
Universidad de La Sabana
2021
Abstract Background and aim Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved chylomicron metabolism. On the other hand, multifactorial (MCS) polygenic most frequent cause of chylomicronemia, which results from presence multiple genetic variants related to metabolism, addition secondary factors. Indeed, determinants that predispose MCS are heterozygous variant or an accumulation several SNPs (oligo/polygenic)....
<ns4:p>Background Muscular dystrophies are a wide heterogeneity group of neuromuscular diseases that very often constitutes challenge for clinicians to perform an adequate diagnosis. Many patients remain underdiagnosed or misdiagnosed consequently affecting their prognosis and quality life. Therefore, we aimed establish clinical molecular characteristics with increased CPK levels muscular in our region facilitate diagnosis follow-up on suspected dystrophies. Methods A cross-sectional study...
<ns3:p><ns3:bold>Background:</ns3:bold> Muscular dystrophies are a wide heterogeneity group of neuromuscular diseases that very often constitutes challenge for clinicians to perform an adequate diagnosis. Many patients remain underdiagnosed o misdiagnosed consequently affecting their prognosis and quality life. Therefore, we aimed establish clinical molecular characteristics with increased CPK levels muscular in our region facilitate diagnosis follow-up on suspected...
Abstract Background and aim Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved chylomicron metabolism. On the other hand, multifactorial (MCS) polygenic most frequent cause of chylomicronemia, which results from presence multiple genetic variants related to metabolism, addition secondary factors. However, their clinical, paraclinical, molecular features are not well established our country. The objective this study...