A5056742220- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Congenital Heart Disease Studies
- Genomic variations and chromosomal abnormalities
- Craniofacial Disorders and Treatments
- Coronary Artery Anomalies
- Cleft Lip and Palate Research
- Congenital limb and hand anomalies
- Fetal and Pediatric Neurological Disorders
- Congenital Anomalies and Fetal Surgery
- Hedgehog Signaling Pathway Studies
- Tracheal and airway disorders
- Genetic Syndromes and Imprinting
- Ocular Disorders and Treatments
- Tumors and Oncological Cases
- Assisted Reproductive Technology and Twin Pregnancy
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Oral and Craniofacial Lesions
- Neurogenetic and Muscular Disorders Research
- Parvovirus B19 Infection Studies
- Genetics and Neurodevelopmental Disorders
- Moyamoya disease diagnosis and treatment
- Connective tissue disorders research
- Urological Disorders and Treatments
Universidade Federal de Ciências da Saúde de Porto Alegre
2015-2024
Irmandade da Santa Casa de Misericórdia de São Paulo
2017-2023
United Food and Commercial Workers
2011-2023
Hospital de Clínicas de Porto Alegre
2013-2022
Hospital Ernesto Dornelles
2014-2020
ORCID
2019
Santa Casa de Misericórdia de Marília
2019
Santa Casa Hospital
2010-2018
Hospital do Servidor Público Estadual
2018
Pontifícia Universidade Católica do Rio Grande do Sul
2018
Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of first branchial arches.To investigate ear abnormalities sample patients with OAVS.The consisted 12 OAVS seen at Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only who underwent mastoid computed tomography and normal karyotype. We performed review its clinical features, giving emphasis to findings.Nine were male, ages ranged from 1 day 17 years. Ear observed in all involved external (n...
Abstract Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in sample patients with PS. The series composed diagnosis PS consecutively evaluated Clinical Genetics Service from reference hospital southern Brazil, period between 1975 2012. Statistical analysis performed using PEPI program (version 4.0), two‐tailed Fisher's exact test...
45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim our study was investigate the clinical and cytogenetic characteristics patients with this mosaicism.A retrospective in referral hospital southern Brazil.Our sample consisted diagnosed at genetics service Brazil, from 1975 2012. Clinical data were collected medical records.Fourteen included sample, ages first evaluation ranging 2 days 38 years. Nine them had female rearing five,...
Abstract BACKGROUND The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case a patient with syndactyly, cleft hands, absence distal finger phalanges associated maternal exposure to chemotherapeutic agents during first trimester pregnancy. These associations have not been previously described. CASE was born by normal delivery after 38 weeks His mother became pregnant while receiving chemotherapy (cyclophosphamide, 5‐fluorouracil, adriamycin) for...
To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features.Seventeen patients diagnosis OAVS were evaluated. All presented radiological evaluation CNS, normal GTG-Banding karyotype and features involving at least two from four following areas: oro-cranio-facial, ocular, auricular vertebral.CNS verified eight seventeen (47%). Diffuse cerebral hypoplasia, dilated...
The 22q11.2 deletion syndrome (22q11DS) is one of the most recognizable causes congenital heart defects (CHDs), but frequency varies in non-selected populations. purpose this study was to determine incidence and clinical features patients with CHD 22q11DS admitted a pediatric cardiology intensive care unit Brazil. In prospective study, we evaluated consecutive series 207 following protocol cytogenetic analysis by high resolution karyotype fluorescent situ hybridization (FISH). identified...
Abstract Trisomy 18 is a chromosomal syndrome characterized by broad clinical picture, as well very reserved prognosis. The aim of our study was to verify the characteristics and survival patients diagnosed in referral hospital southern Brazil. Our sample consisted 31 patients, 22 were female (71%), ages ranging from 1 1,395 days (median 14 days). majority had single cell lineage with full trisomy chromosome (94%). Concerning pregnancy complications, pre‐eclampsia main abnormality described...
Cat eye syndrome is considered a rare chromosome disease with highly variable phenotype. The objective of this paper was to describe the clinical characteristics sample patients cat who were seen at our service.This retrospective analysis six diagnoses syndrome. All these patients’ karyotypes exhibited presence an additional marker chromosome, inv dup(22)(pter->q11.2::q11.2->pter). One patient also mosaicism lineage that had normal chromosomal constitution. Clinical and follow-up data...
Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD).Determine the frequency, types and clinical characteristics CAs identified in a sample prospective consecutive patients with CHD.Our consisted CHD evaluated during their first hospitalization cardiac intensive care unit pediatric referral hospital Southern Brazil. All underwent cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher...
Abstract: Mutations in connexin26, a cutaneous gap junction protein, cause wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated phenotype distinct from KID, hypotrichosis-deafness syndrome, caused by the mutation p.Asn14Lys connexin26. However, different at same location, p.Asn14Tyr, was reported to disorder similar KID. Distinct substitutions conformational changes each with unique consequences for its behaviour. This may explain...
OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using descriptors "karyotype" OR "chromosomal" "chromosome" AND "heart defects, congenital". The research was limited to published English from 1980 on.DATA SYNTHESIS: Congenital disease is characterized an etiologically heterogeneous not well understood group of lesions. Several researchers have...
CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was describe clinical and cytogenetic findings sample patients with phenotype OAVS.DESIGN SETTING: Cross-sectional study in referral hospital southern Brazil.METHODS: The consisted 23 who presented at least two these four areas: orocraniofacial, ocular, auricular vertebral. underwent protocol evaluation...
Anencephaly is considered to be the most common type of neural tube defect. Our aim was assess clinical and gestational features a cohort fetuses with suspected anencephaly.Population-based retrospective study in referral hospital southern Brazil.The sample consisted referred due anencephaly, Fetal Medicine Service Hospital Materno Infantil Presidente Vargas, between January 2005 September 2013. Clinical, radiological, pathological survival data were gathered.Our composed 29 fetuses. The...