A5057965542- Telemedicine and Telehealth Implementation
- Patient Satisfaction in Healthcare
- Diet and metabolism studies
- High Altitude and Hypoxia
- Genomics and Rare Diseases
- Health Education and Validation
- Delphi Technique in Research
- Mobile Health and mHealth Applications
- Skin Protection and Aging
- Immunodeficiency and Autoimmune Disorders
- melanin and skin pigmentation
- Cancer, Hypoxia, and Metabolism
- Maternal and Neonatal Healthcare
- Cystic Fibrosis Research Advances
- Immune Cell Function and Interaction
- Infant Development and Preterm Care
- Hemodynamic Monitoring and Therapy
- Reproductive System and Pregnancy
- COVID-19 and healthcare impacts
- HIV Research and Treatment
- Renal and related cancers
- HIV/AIDS drug development and treatment
- Sepsis Diagnosis and Treatment
- Biochemical Analysis and Sensing Techniques
- Cancer-related Molecular Pathways
Texas Children's Hospital
2025
Baylor College of Medicine
2023-2025
Hospital Moinhos de Vento
2021-2024
Universidade Federal do Rio Grande do Sul
2015-2021
This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted American College of Medical Genetics Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines interpreting germline variants in genes with established relationships to SCID. The effort focused on 7 most common SCID-related identified SCID newborn screening North America: ADA , DCLRE1C IL2RG IL7R JAK3 RAG1...
The Andean Altiplano has been occupied continuously since the late Pleistocene, ~12,000 years ago, which places natives as one of most ancient populations living at high altitudes. In present study, we analyzed genomic data from Native Americans a long-time altitude and Amazonia Mesoamerica lowland areas. We have identified three new candidate genes - SP100, DUOX2 CLC with evidence positive selection for adaptation in Andeans. These are involved TP53 pathway related to physiological routes...
The diversity of the five single nucleotide polymorphisms located in genes TP53 pathway (TP53, rs1042522; MDM2, rs2279744; MDM4, rs1563828; USP7, rs1529916; and LIF, rs929271) were studied a total 282 individuals belonging to Quechua, Aymara, Chivay, Cabanaconde, Yanke, Taquile, Amantani, Anapia, Uros, Guarani Ñandeva, Kaiowá populations, characterized as Native American or having high level (> 90%) ancestry. In addition, published data pertaining 100 persons from other populations (Surui,...
Abstract Background Melanoma is the most aggressive type of skin cancer and associated with environmental genetic risk factors. It originates in melanocytes, pigment-producing cells. Single nucleotide polymorphisms (SNPs) pigmentation genes have been described melanoma modulation, but knowledge field still limited. Methods In a case-control approach (107 cases 119 controls), we investigated effect four gene SNPs ( TYR rs1126809, HERC2 rs1129038, SLC24A5 rs1426654, SLC45A2 rs16891982) on...
Abstract Objectives To determine genetic differences between agriculturalist and hunter‐gatherer southern Native American populations for selected metabolism‐related markers to test whether Neel's thrifty genotype hypothesis (TGH) could explain the patterns observed in these populations. Materials Methods 375 South individuals from 17 were genotyped using six ( APOE rs429358 rs7412; APOA2 rs5082; CD36 rs3211883; TCF7L2 rs11196205; IGF2BP2 rs11705701). Additionally, genotypes 39 obtained...
To investigate the influence of candidate polymorphisms on chemokine receptor/ligand genes HIV infection and AIDS progression (HIV/AIDS).Fifteen CCR3, CCR4, CCR5, CCR6, CCR8, CXCR3, CXCR6, CCL20, CCL22 CXCL10 were analysed in 206 HIV-positive patients classified as rapid progressors (n = 40), or nonrapid 166), 294 HIV-seronegative patients.The genotyped using minisequencing. Genetic models tested binomial logistic regression; nonparametric multifactor dimensionality reduction (MDR) was used...
ABSTRACT Objective The aim of this study is to introduce a distance education program and assess the satisfaction health professionals. Methods A cross-sectional was conducted in five public hospitals across different regions Brazil. total 171 professionals participated tele-education activity involving discussions complex cases Case-Based Learning (CBL) format. Employee measured using translated questionnaire Tele-Education Satisfaction Assessment Instrument (IAS-TE). Results mean score for...
Telemedicine has shown promising results, allowing specialists to provide rapid and effective care in remote locations. However, our knowledge, current evidence is not robust enough prove the effectiveness of this tool. This cluster-randomized trial (CRT) aimed evaluate impact telemedicine on clinical indicators pediatric intensive units (PICUs).
There are discrepancies in resources and expertise available between pediatric intensive care units (PICUs) Brazil that likely significantly impact the clinical outcomes of patients. The goal this study was to evaluate telemedicine rounding support two public PICUs located North Northeast regions Brazil. Our intervention involves telehealth rounds connecting “level II” with specialist doctors from a hospital recognized excellence. A before-and-after carried out telemedicine's on December...
Introdução: Com base no uso de telemedicina, é necessário obter os indicadores da satisfação dos serviços prestados a fim descobrir se qualidade do cuidado está sendo levada em consideração, bem como equidade acesso e promoção à saúde tempo espera para atendimentos.O objetivo deste estudo foi avaliar usuários um programa teleoftalmologia Rio Grande Sul, utilizando questionário validado