A5033690637- Blood Coagulation and Thrombosis Mechanisms
- Acute Ischemic Stroke Management
- Congenital Heart Disease Studies
- RNA regulation and disease
- Pregnancy and preeclampsia studies
- RNA modifications and cancer
- Retinal and Optic Conditions
- Renal and Vascular Pathologies
- Neurological and metabolic disorders
- Neurological disorders and treatments
- Connexins and lens biology
- Sleep and related disorders
- Retinal Development and Disorders
- Dietary Effects on Health
- Epilepsy research and treatment
- Climate Change and Health Impacts
- Long-Term Effects of COVID-19
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Coronary Artery Anomalies
- COVID-19 Clinical Research Studies
- Trypanosoma species research and implications
- interferon and immune responses
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
University of Chile
2015-2025
Hospital San Borja Arriarán
2015-2023
Background: Data from the early pandemic revealed that 0.62% of children hospitalized with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) had an arterial ischemic stroke (AIS). In a larger cohort June 2020 to December 2020, we sought determine whether our initial point estimate was stable as continued and understand radiographic laboratory data may clarify mechanisms pediatric AIS in setting SARS-CoV-2. Methods: We surveyed international sites expertise numbers SARS-CoV-2...
Introduction: Ischemic stroke in adults demonstrates circadian variation the timing of onset symptoms, with highest risk between 6am and noon (1-4). The influence on biology may differ children adults, possibly related to immature system, variations school versus work schedules, diverse pathophysiology (5). goal our study was assess whether ischemic variability children. Methods: We queried International Pediatric Stroke Study, an international multicenter observational registry <18 years...
Introduction: Arterial ischemic stroke in newborns is an important cause of neonatal morbidity and mortality. Its pathophysiology associated risk factors are not yet clearly understood defined. Objective: The aim this retrospective study was to investigate possible diagnosed cases PAIS (perinatal arterial stroke). Materials methods: Case–control study. Clinical data patients with diagnosis were analyzed. Two healthy controls selected for each case, matched gestational age. Risk explored...
Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and chondroitin-6-sulfate degradation. Studies have shown that degree of evolutionary chemical divergence missense GalN6S when compared to ancestral amino acids associated with severity syndrome, suggesting a genotype-phenotype correlation. There little...
Stroke is an important cause of morbidity and mortality in children. Clinical presentation diverse, multiple risk factors have been described. The aim this retrospective study to describe the clinical presentation, factors, Pediatric National Institute Health Scale (PedNIHSS) a series pediatric Chilean patients with diagnosis arterial ischemic stroke (AIS). Children diagnosed AIS aged between 29 d 18 y were enrolled (1989 2016). characteristics PedNIHSS severity score was estimated for older...
Abstract It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated clinical features, such as leukodystrophy or polyneuropathy.