A5070795647- Sexual Differentiation and Disorders
- Hormonal and reproductive studies
- Adrenal Hormones and Disorders
- Hormonal Regulation and Hypertension
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Blood disorders and treatments
- Metabolism and Genetic Disorders
- Growth Hormone and Insulin-like Growth Factors
- Genomics and Rare Diseases
- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Urological Disorders and Treatments
- Tracheal and airway disorders
- Infant Nutrition and Health
- Blood groups and transfusion
- Legume Nitrogen Fixing Symbiosis
Hospital de Clínicas de Porto Alegre
2024
Universidade Federal do Rio Grande do Sul
2017-2022
University of Bern
2021-2022
University Children’s Hospital Bern
2021-2022
Secretaria da Saúde
2018-2020
Governo do Estado do Rio Grande do Sul
2020
Fundação Estadual de Produção e Pesquisa em Saúde
2017-2019
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% all cases CAH, accumulation 17 hydroxyprogesterone (17-OHP). Early diagnosis CAH based on newborn screening possible before the development symptoms and allows proper treatment, correct sex assignment, reduced mortality rates. This study describes results obtained first year a public program state Rio Grande do Sul,...
To describe the results obtained in a neonatal screening program after its implementation and to assess clinical molecular profiles of confirmed suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due high 17-hydroxyprogesterone levels adjusted for birth weight were selected. Classical (salt-wasting simple virilizing forms) diagnosed by an increase as retest, evaluation, genotype determined SNaPshot multiplex...
CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group genetic disorders that affect steroid biosynthesis. The and functional analysis provide critical tools to elucidate complex CAH cases. One the most accessible infer pathogenicity new variants is in silico prediction. Here, we analyzed performance prediction categorize missense single nucleotide (SNVs) CYP21A2. SNVs characterized vitro by assays were selected assess online meta predictors. tested...
Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects cortisol biosynthesis. Computational prediction and functional studies are often the only way to classify variants understand links disease-causing effects. Here we investigated pathogenicity uncharacterized CYP21A2 gene reported Brazilian Portuguese populations. Physicochemical alterations, residue conservation, effect on protein...
Inborn errors of immunity (IEI) encompass a broad range disorders with heterogeneous clinical presentations, often leading to challenges in early diagnosis. This study presents case Brazilian patient T-B+NK- severe combined immunodeficiency (SCID) diagnosed at the age 6 months when was admitted hospital due multiple infectious diseases. Despite undergoing hematopoietic stem cell transplantation (HSCT), had recurrent infections, requiring constant care, including IgG infusions and several...
To describe the results obtained in a neonatal screening program after its implementation and to assess clinical molecular profiles of confirmed suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due high 17-hydroxyprogesterone levels adjusted for birth weight were selected. Classical (salt-wasting simple virilizing forms) diagnosed by an increase as retest, evaluation, genotype determined SNaPshot multiplex...
Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects cortisol biosynthesis. Computational prediction along with functional studies are often the only way to classify variants understand links disease-causing effects. Here we investigated pathogenicity uncharacterized CYP21A2 gene reported Brazilian and Portuguese populations. Physicochemical alterations, residue...
Context: CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia cases (CAH), a group genetic disorders that affect steroid biosynthesis. The and functional analysis provides critical tools to elucidate complex CAH cases. One the most accessible infer pathogenicity new variants is in silico prediction. Objective: Analyze performance prediction categorize missense single nucleotide (SNVs) CYP21A2. Methods: SNVs characterized vitro by assays were selected assess online meta...
Abstract Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects cortisol biosynthesis. Computational prediction along with functional studies are often the only way to classify variants understand links disease-causing effects. Here we investigated pathogenicity uncharacterized CYP21A2 gene reported Brazilian and Portuguese populations. Physicochemical alterations, residue...
Abstract Context CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia cases (CAH), a group genetic disorders that affect steroid biosynthesis. The and functional analysis provides critical tools to elucidate complex CAH cases. One the most accessible infer pathogenicity new variants is in silico prediction. Objective Analyze performance prediction categorize missense single nucleotide (SNVs) CYP21A2. Methods SNVs characterized vitro by assays were selected assess online meta...