A5057471391- Mosquito-borne diseases and control
- Viral Infections and Vectors
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Malaria Research and Control
- Viral Infections and Outbreaks Research
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Folate and B Vitamins Research
- Ocular Disorders and Treatments
- Congenital limb and hand anomalies
- Craniofacial Disorders and Treatments
- Hedgehog Signaling Pathway Studies
- RNA modifications and cancer
- Nutrition, Genetics, and Disease
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Cardiac Valve Diseases and Treatments
- Birth, Development, and Health
- Aortic Disease and Treatment Approaches
- SARS-CoV-2 and COVID-19 Research
- Genomics and Chromatin Dynamics
- Cleft Lip and Palate Research
- Esophageal and GI Pathology
Instituto de Medicina Tropical “Pedro Kourí”
2012-2024
Hospital Universitario Virgen de la Arrixaca
2023
Instituto de Salud Carlos III
2023
Centro de Investigación Biomédica en Red
2023
Red Espanola de Investigacion en Patologia Infecciosa
2023
Hospital Universitario Reina Sofía
2023
University of Córdoba
2023
Instituto Maimónides de Investigación Biomédica de Córdoba
2023
Universidade Federal de São Paulo
2013-2022
Johns Hopkins University
2020
Abstract Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal Brazil. An uncertain number these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug first trimester gestation without success. The presented with limb defects 4 them diagnosis Möbius sequence was made. © 1993 Wiley‐Liss, Inc.
The acute manifestations of dengue are well known. clinical symptoms that present during the convalescent phase infection less characterized, but may be autoimmune-based. This study was undertaken to determine prevalence persistent among individuals infected 2006 Cuban epidemic and evaluate immunological genetic factors associated with their occurrence.In 2008, data blood samples were collected from a random sample adult diagnosed fever (DF, n=68), hemorrhagic (DHF, n=29), or an asymptomatic...
The role of human Fcgamma receptors (FcgammaR) has been recognized considerably over the last years. These vary in their affinity for IgG subclasses and intracellular signals elicited by them. Allelic variants FcgammaR genes may influence biological phagocyte activity, accounting an inherited pre-disposition to disease. specific FcgammaRIIa (CD32) contains a polymorphic variant (H/R131) that associated reduced risk developing dengue hemorrhagic fever (DHF). Here, we investigated this...
Ethnic groups can display differential genetic susceptibility to infectious diseases. The arthropod-born viral dengue disease is one such disease, with empirical and limited evidence showing that African ancestry may be protective against the haemorrhagic phenotype. Global analysis based on high-throughput genotyping in admixed populations used test this hypothesis, while admixture mapping map candidate genes. A Cuban fever cohort was genotyped using a 2.5 million SNP chip. ascertained...
Abstract The pathogenesis associated with Dengue haemorrhagic fever, has yet to be fully elucidated, no definitive in vivo evidence. exceptional epidemiological circumstances Cuba allow the evaluation of different mediators a well‐defined situation. In present study, we describe determination levels IL‐12, IL‐10 and RANTES sera Cuban patients hospitalised fever or fever. results showed that serum were higher than controls, those secondary infections had consistently levels. All increased...
The Marfan database is a software that contains routines for the analysis of mutations identified in FBN1 gene encodes fibrillin-1. Mutations this are associated not only with syndrome but also spectrum overlapping disorders. third version 137 entries. has been modified to accommodate four new and now accessible on World Wide Web at http://www.umd.necker.fr
Abstract Associations between specific alleles of genes encoding enzymes in the methionine/homocysteine pathway and plasma homocysteine levels have been examined different populations. In present study, we determined polymorphisms MTHFR A222V (677C > T), E429A (1298A C), MTRR I22M (66A G), MTR D919G (2756A CBS 844ins68 total (tHcy) among 154 mothers children with Down syndrome (DS) 158 control from Brazil. Homocysteine were higher DS compared to groups (10.437 vs. 8.600 respectively, P =...
The kinetics of three serological markers (IgM, IgA, and IgG) in serum, saliva, urine samples from adult patients with primary or secondary dengue infection were studied.Serum, collected 22 clinical confirmed 3 virus during the outbreak Havana City 2001. They tested by capture IgM (MAC-ELISA), IgA (AAC-ELISA), IgE (EAC-ELISA) IgG ELISA inhibition method (EIM) to detect specific antibodies.Similar observed IgM, antibodies saliva cases compared serum samples, although values lower. No antibody...
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of first and second pharyngeal arches during embryonic period. phenotype highly heterogeneous, ears, eyes, face, neck, other systems organs. There no agreement in literature for minimum phenotypic inclusion criteria, but primary involves hemifacial microsomia with facial asymmetry microtia. Most cases are sporadic etiology this syndrome not well known. Environmental factors, family that...
Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum (ASD), and mild dysmorphisms associated with several comorbidities caused SHANK3 loss-of-function mutations. Although haploinsufficiency has been the major neurological symptoms of PMS, it cannot explain clinical variability seen among individuals. Our goals were to characterize Brazilian cohort PMS individuals, explore genotype-phenotype...
Syndromic obesity is an umbrella term used to describe cases where occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome Prader-Willi being classical example. These rare forms provide unique source for identifying obesity-related changes. Chromosomal microarray analysis (CMA) has allowed the characterization new syndromic obesity, which are due copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim this study was...
Trisomy 9p is one of the most common partial trisomies found in newborns. We report clinical features and cytogenomic findings five patients with different chromosome rearrangements resulting complete duplication, three them involving centromere alterations. The were characterized by G-banding, SNP-array fluorescent situ hybridization (FISH) probes. Two presented de novo dicentric chromosomes: der(9;15)t(9;15)(p11.2;p13) der(9;21)t(9;21)(p13.1;p13.1). One patient two concomitant rearranged a...
(2004). Dengue, one of the great emerging health challenges 21st century. Expert Review Vaccines: Vol. 3, No. 5, pp. 511-520.
Abstract Homocysteine (Hcy) is converted to cysteine or remethylated methionine by methylenetetrahydrofolate reductase (MTHFR). MTHFR plays a central role in the metabolism of folate. Two common polymorphisms gene (C677T and A1298C) have been described studies suggest that these are positively associated with occurrence spina bifida (SB). Among Brazilians, incidence 677T allele homozygosity 4%. We compared Hcy levels genotypes obtained for mutations C677T A1298C . Levels plasma were higher...
The different risk factors associated with dengue hemorrhagic fever pathogenesis needs yet additional clarification. exceptional epidemiological circumstances in Cuba allow their evaluation a well-defined situation. In the present study memory T cell response of 80 Cuban donors previously infected dengue-1 and dengue-2 during 1977 1981 epidemics, belonging to ethnic groups, was examined. White people showed, contrast black people, stronger remarkably cross-reactive virus-specific CD4+...