A5040260655- Mosquito-borne diseases and control
- Multiple Myeloma Research and Treatments
- Protein Degradation and Inhibitors
- Viral Infections and Vectors
- Virology and Viral Diseases
- Global Maternal and Child Health
- Pharmacological Effects and Toxicity Studies
- Maternal and Neonatal Healthcare
- Chromatin Remodeling and Cancer
- HIV Research and Treatment
- Epigenetics and DNA Methylation
- Child Nutrition and Water Access
- COVID-19 Impact on Reproduction
- Ubiquitin and proteasome pathways
- Syphilis Diagnosis and Treatment
- HIV/AIDS drug development and treatment
- Cardiac, Anesthesia and Surgical Outcomes
- Histone Deacetylase Inhibitors Research
- Vitamin K Research Studies
- Genomics and Rare Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Autism Spectrum Disorder Research
- Demographic Trends and Gender Preferences
- Congenital limb and hand anomalies
- Pharmacological Effects and Assays
Ministério da Saúde
2021-2025
Universidade Federal do Rio Grande do Sul
2016-2024
Hospital de Clínicas de Porto Alegre
2018-2024
National Institute on Population Medical Genetics
2017-2024
Universidade Luterana do Brasil
2013-2022
Universidade Estadual de Campinas (UNICAMP)
2020
Congenital anomalies are an important cause of infant morbidity and mortality in Brazil. The aim this study was to describe the prevalence main outcomes related these This descriptive carried out using data from Brazilian Information System on Live Births (known as Sinasc) Mortality SIM) for births occurring 2010 2022. During period, 37 126 352 live were registered Sinasc, 309 140 reported with congenital anomalies, accounting approximately 1% all births, representing about 24 000 per year...
Abstract Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by which thalidomide affects embryo development has not yet been obtained. phenotypic similarity makes TE a phenocopy syndromes caused mutations ESCO2 , SALL4 and TBX5 genes. Recently, were demonstrated to be targets. To understand if these genes act development, we sequenced them 27 individuals with TE; verified how...
Abstract The Cereblon-CRL4 complex has been studied predominantly with regards to thalidomide treatment of multiple myeloma. Nevertheless, the role in Thalidomide Embryopathy (TE) is still not understood. Not all embryos exposed develop TE, hence here we evaluate CRL4-Cereblon TE variability and susceptibility. We sequenced CRBN , DDB1 CUL4A IKZF1 IKZF3 individuals TE. To better interpret variants, suggested a score heatmap comprising their regulatory effect. Differential gene expression...
Zika virus (ZIKV) causes Congenital Syndrome (CZS) in individuals exposed prenatally. Here, we investigated polymorphisms VEGFA, PTGS2, NOS3, TNF, and NOS2 genes as risk factors to CZS. Forty children with CZS forty-eight who were utero ZIKV infection, but born without congenital anomalies, evaluated. Children predominantly infected by the first trimester (p < 0.001) had mothers lower educational level family income 0.001). We found higher of due allele rs2297518[A] (OR = 2.28, CI 95%...
Matrix metalloproteinase-9 (MMP-9) is an inducible metalloproteinase that can degrade the cerebrovascular matrix leading to disruption of blood-brain barrier and exacerbation oedema in neurotrauma. Therefore, our aim was determine whether MMP-9 plasma levels were associated with intensive care unit (ICU) mortality after severe traumatic brain injury (TBI) despite presence extracerebral injuries.This cohort enrolled 80 patients who suffered TBI (Glasgow Coma Scale: 3-8 at hospital admission)....
Zika virus (ZIKV) cause Congenital Syndrome (CZS) in individuals exposed during pregnancy. Studies have shown that ZIKV infection positively regulates the miR-124 expression neural cells, which leads to a decrease of TFRC, gene targeted this miRNA. Both and TFRC exhibit pivotal role nervous system development. Therefore, study we aimed investigate whether genetic variants affect these genes could act together with increase risk developing CZS. rs406271 MIR-124-1 rs531564 polymorphisms were...
Thalidomide is a drug used worldwide for several indications, but the molecular mechanisms of its teratogenic property are not fully understood. Studies in animal models suggest oxidative stress, inhibition angiogenesis, and binding to E3-ubiquitin ligase complex as by which thalidomide can change expression genes important embryonic development. In this study, seven polymorphisms related development (FGF8, FGF10, BMP4, SHH, TP53, TP63, TP73) were analyzed people with embryopathy (TE)...
Embryofetal development is a critical process that needs strict epigenetic control, however, perturbations in this balance might lead to the occurrence of congenital anomalies. It known anticonvulsants potentially affect epigenetics-related genes, it not comprehended whether unbalance could explain anticonvulsants-induced fetal syndromes. In present study, we aimed evaluate expression genes valproic acid, carbamazepine, or phenytoin exposure. We selected these three exposure assays, which...
Several molecular mechanisms of thalidomide embryopathy (TE) have been investigated, from anti-angiogenesis to oxidative stress cereblon binding. Recently, it was discovered that and its analogs, named immunomodulatory drugs (IMiDs), induced the degradation C2H2 transcription factors (TFs). This mechanism might impact strict transcriptional regulation developing embryo. Hence, this study aims evaluate TFs altered by IMiDs, prioritizing ones associated with embryogenesis through transcriptome...
Zika virus (ZIKV) is a human teratogen that causes congenital syndrome (CZS). AXL, TLR3, and STAT2 are proteins involved in the ZIKV's entry into cells (AXL) host's immune response (TLR3 STAT2). In this study, we evaluated role of genetic polymorphisms these three genes as risk factors to CZS, highlighted which interact with them could be important for ZIKV infection teratogenesis.We evaluate eighty-eight children exposed during pregnancy, 40 CZS 48 without anomalies. The AXL (rs1051008),...
The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still remain. aim this study was to detect sequence divergences between species, affected or not by TE, and evaluate the regulated gene co-expression in a murine model. Here, we performed comparative analysis proteins experimentally established as exposure, evaluating 14...
Congenital Zika Syndrome (CZS) occurs in up to 42% of individuals exposed ZIKV prenatally. Deregulation gene expression and protein levels components the p53 signaling pathway, such as MDM2, due infection has been reported. Here, we evaluate functional polymorphisms genes pathway risk factors CZS. Forty children born with CZS forty-eight ZIKV, but without congenital anomalies were included this study. Gestational sociodemographic information well genotypic allelic frequencies TP53, MIR605...
To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics.This was a documentary study by means Medline database search (via PubMed) searches involving reports, official documents websites. Studies reporting at least one registry were included.40 identified in 39 different countries. All included concentrated upper-middle or high-income countries located Europe. Most...