A5089588053- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal and related cancers
- Hormonal and reproductive studies
- Pregnancy and preeclampsia studies
- Genomic variations and chromosomal abnormalities
- Urological Disorders and Treatments
- Cardiovascular Disease and Adiposity
- Reproductive Biology and Fertility
- Nutrition and Health in Aging
- Prenatal Screening and Diagnostics
- Blood Coagulation and Thrombosis Mechanisms
- LGBTQ Health, Identity, and Policy
- Sexual function and dysfunction studies
- Ovarian function and disorders
- Iron Metabolism and Disorders
- Reproductive Health and Technologies
- Epigenetics and DNA Methylation
- Inflammatory Biomarkers in Disease Prognosis
- Assisted Reproductive Technology and Twin Pregnancy
- Maternal and fetal healthcare
- Healthcare Regulation
- Cardiovascular and exercise physiology
- Birth, Development, and Health
- Hemoglobinopathies and Related Disorders
Universidade Federal dos Vales do Jequitinhonha e Mucuri
2024-2025
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2017-2023
Pontifícia Universidade Católica do Rio Grande do Sul
2015-2022
Fundação Estadual de Produção e Pesquisa em Saúde
2015
Abstract Context Massively parallel sequencing (MPS) technologies have emerged as a first-tier approach for diagnosing several pediatric genetic syndromes. However, MPS has not been systematically integrated into the diagnostic workflow along with clinical/biochemical data 46,XY differences of sex development (DSD). Objective To analyze contribution phenotypic classification either alone or in association evaluations, mainly MPS, large cohort DSD patients. Design/patients 209 nonsyndromic...
Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis Brazilian cohort POI. Genetic analysis performed using customized panel targeted massively parallel sequencing (TMPS) and candidate variants were confirmed by Sanger sequencing. Additional copy number variation (CNV) TMPS samples CONTRA. Fifty women POI (29 primary amenorrhea 21 secondary amenorrhea) unknown...
While physical performance is closely linked to cardiovascular health, further research essential elucidate the association of tests in early screening for risk (CVR), underscoring potential these assessments enhance preventive healthcare strategies. To investigate between Handgrip Strength (HGS) test and CVR women with obesity, as well evaluate predictive value HGS a tool this population. Fifty-five eligible aged 40 65 years, were studied. The Framingham Global Risk Score was used classify...
Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor‐1 (WT1) gene involved early gonadal both sexes. Classically, WT1 deleterious variants are associated 46,XY disorders because dysgenesis. We report a novel frameshift variant identified an SRY‐negative DSD girl born Target massively parallel sequencing involving DSD‐related genes heterozygous c.1453_1456del; p.Arg485Glyfs*14 located...
Imbalance in hemostatic mechanisms can occur during pregnancy with a tendency for hypercoagulability and increased thrombosis risk. Pregnant women hypertensive disorder, especially preeclampsia, show alterations platelet indexes. Immature fraction (IPF) has been suggested as sensitive index monitoring changes production destruction.To evaluate the IPF patients diagnosed gestational disorder (GHD).A cross-sectional study was conducted at an University Hospital to estimate maternal blood 99...
Abstract Context In 46,XY disorders of sexual development (DSD) patients, several factors may affect psychosexual development, leading to gender identity discrepancy and change later in life. Prenatal steroid exposure external genital virilization are considered influence human but their roles not completely understood yet. Design A total 144 individuals (18 60 years age) with a clinical/molecular diagnosis DSD from single tertiary center were enrolled. Psychosexual outcomes (gender role,...
Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information prognosis difficult.To analyse the long-term outcomes of PGD regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation.A retrospective longitudinal study 33 (20 assigned male 13 female at birth). Molecular diagnosis was performed by Sanger sequencing or targeted massively parallel 63 genes related to disorders sex development (DSDs).Age...
Introduction:The importance of local references values has been well described in the literature; this is because characteristics population may influence laboratory tests.Objective: To establish reference range for traditional and extended red blood cell parameters reticulocyte indices order to investigate its application patients with chronic kidney disease (CKD).Materials methods: 249 donors (125 males 124 females) were selected values.The hemodialysis sample consisted 62 terminal CKD (48...
Abstract Preeclampsia, a human pregnancy syndrome, is characterized by elevated blood pressure and proteinuria after the 20th week of gestation. Its etiology remains unknown, its pathophysiological mechanisms are related to placental hypoperfusion, endothelial dysfunction, inflammation, coagulation cascade activation. Recently, role complement system has been considered. This syndrome one main causes maternal fetal mortality morbidity. article discusses hypothesis preeclampsia being...
Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences sexual development (DSD). Here we evaluated role SNP array achieving a molecular diagnosis Brazilian syndromic DSD unknown etiology.Twenty-two and features were included study underwent SNP-array analysis.In two patients, 46,XX SRY + was established. Additionally, deletions revealed (3q29 Xp22.33), justifying phenotype these patients. Two pathogenic CNVs, 10q25.3-q26.2 13q33.1 deletion...
Copy number variations of several genes involved in the process gonadal determination have been identified as a cause 46,XY differences sex development. We report non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence breast development, and atypical genitalia. Her karyotype 47,XY,+mar/46,XY, FISH analysis revealed X chromosome origin marker chromosome. Array-CGH data pathogenic 2.0-Mb gain an Xp21.2 segment containing <i>NR0B1/DAX1</i> 1.9-Mb...
Abstract: The sexuality of 46,XY DSD individuals can be affected by several factors as external genitalia appearance, negative body image, traumas, social stigma, and previous genital surgery. Previous studies has been reported an impaired sexual quality life (SexQoL) in comparison with controls. To observe aspects regarding life, 144 (100 female; 44 male) were enrolled this study. All them adults (>16 years old) had completed all surgical treatments. Sexual fertility issues assessed using...
The main complain of patients with partial androgen insensitivity (PAIS) is undervirilization signs and the small penile length. Supplemental therapy has enhanced virilization in only a few PAIS. Aromatase inhibitors as anastrozole letrozole are nonsteroidal able to bind reversibly heme group cytochrome P450 reducing estrogen estrone levels increasing LH FSH consequently testosterone levels. We hypothesized that combination high-dose can maintain sustained elevated also deviated...
Abstract Background: Molecular biology and cytogenomics methods have gained space in the clinical investigation for patients with disorders/differences sexual development (DSD). Here we aimed to evaluate role of SNP-array achieving a molecular diagnosis sample 22 Brazilian syndromic DSD unknown etiology, compare relationship between results.Methods: associated features several systems other than genital tract were included study underwent search genomic copy number variations (CNVs) by...