From bench to in silico and backwards: What have we done on genetics of recurrent pregnancy loss and implantation failure and where should we go next?

Human reproduction goes through many challenges to its success and in many cases it fails. Cases of pregnancy loss are common outcomes for pregnancies, and implantation failures (IF) are common in assisted reproduction attempts. Although several risk factors have already been linked to adverse outcomes in reproduction, many cases remain without a definitive cause.

Genetic evaluation of HAND2 gene and its effects on thalidomide embryopathy.

Background: HAND2 is a transcription factor important for embryonic development, required for limbs and cardiovascular development. Thalidomide is a drug responsible to a spectrum of congenital anomalies known as Thalidomide Embryopathy (TE), which includes mainly limb and heart defects. It is known that HAND2 interaction with TBX5, an important protein for limbs and heart development, is inhibited by Thalidomide.

National congenital anomaly registers in the world: historical and operational aspects.

Objective: To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics.

Methods: This was a documentary study by means of a Medline database search (via PubMed) and searches involving reports, official documents and websites. Studies reporting at least one national registry were included.

Investigating the role of gene family in recurrent pregnancy loss through bioinformatics and molecular approaches.

Recurrent pregnancy loss (RPL) is the most common reproductive failure, reaching 1-5% of women throughout their lives, and having unknown etiology in 50% of the cases. In humans, (pidermal rowth actors & ripto/RL-1/ryptic) gene family is composed by and , two developmental genes. The aim of this study was to investigate the role of EGF-CFC on RPL.

Genetic and analysis show a role of on recurrent pregnancy loss.

Recurrent pregnancy loss (RPL) is one of the most common reproductive failures affecting 1-5% of couples. Smad3 is an effector of signalling of the Transforming Growth Factors-β superfamily (TGF-β), regulating the transcription of several target genes of these cytokines. The objective of this study was to evaluate the influence of a variant on (rs17293443) in RPL.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc).

Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society.

Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10.

Objective: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance.

Methods: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list.

COVID-19 in Brazil: evolution of the epidemic up until epidemiological week 20 of 2020.

Objective to describe the evolution of COVID-19 in Brazil up until epidemiological week 20 of 2020. Methods this is an ecological study based on data and official documents from the Brazilian Ministry of Health and international organizations; comparisons were made between Brazil and other countries and incidence and mortality rates were calculated. Results by the end of epidemiological week 20, 233,142 cases, and 15,633 deaths had been confirmed for Brazil as a whole and 3,240 (58.

International collaboration networks for the surveillance of congenital anomalies: a narrative review.

Objective to identify international congenital anomaly surveillance collaboration networks, to list the programs that compose them and to compare their main characteristics. Methods this was a narrative literature review by means of a MEDLINE database search (via PubMed) and searches involving websites, reports and official documents. Results six international congenital anomaly surveillance collaboration networks were identified (ECLAMC, ICBDSR, EUROCAT, BINOCAR, SEAR-NBBD and ReLAMC), comprised of 98 programs present in 58 different countries on all continents, except Africa; the main characteristics regarding type of surveillance, coverage and location were discussed in a comparative manner.

COVID-19 epidemic in Brazil: Where are we at?

Objetive: To analyze the trends of COVID-19 in Brazil in 2020 by Federal Units (FU).

Method: Ecological time-series based on cumulative confirmed cases of COVID-19 from March 11 to May 12. Joinpoint regression models were applied to identify points of inflection in COVID-19 trends, considering the days since the 50 confirmed case as time unit.

Modulation of reactive oxygen species production, apoptosis and cell cycle in pleural exudate cells of carrageenan-induced acute inflammation in rats by rutin.

The present study seeks to investigate the effect of rutin, a flavonoid compound in rat models of acute inflammation induced by carrageenan (CAR). Twenty-four female Wistar rats weighing 222-247 g received saline or 2% λ-carrageenan in the pleural cavity and treatment with rutin (80 mg kg) or saline by oral gavage for 21 days prior to the intrapleural induction of CAR. After 4 h of induction, the rats were euthanized, the plasma was prepared from the blood for the analysis of haematological parameters and the pleural exudate was obtained for the analysis of the total cell count, cell viability, reactive oxygen species (ROS) production, apoptosis and cell cycle.