Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.

Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries.

Data Source: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence.

The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development.

46,XX testicular disorder of sex development is a rare syndrome characterized by an inconsistency between genotype and phenotype. Affected individuals present variant genitalia between male and ambiguous, non-functional testicles, non-obstructive azoospermia, generally accompanied by hypergonadotropic hypogonadism, a condition known for high levels of gonadotrophic hormones. In some cases, disorders of sexual development are diagnosed during puberty.

Relationship between melatonin and high-risk pregnancy: A review of investigations published between the years 2010 and 2020.

The purpose of this review was to search for articles on human studies investigating the relationship between melatonin and high-risk pregnancy. An electronic search was conducted in the MEDLINE and PubMed databases from September 2010 to October 2020. The initial search produced 441 articles in PubMed and 407 in MEDLINE.

Coronavirus disease 2019 population-based prevalence, risk factors, hospitalization, and fatality rates in southern Brazil.

Objectives: To assess population-based prevalence, risk factors, hospitalization, and infection fatality rates (IFR) associated with COVID-19.

Methods: We conducted two household surveys among the non-institutionalized adult population from May 30 to June 17, 2020, in Lajeado, an 84,000-inhabitant industrial city in southern Brazil. Primary outcome was prevalence of SARS-CoV-2 infection.

Fetal Alcohol Spectrum Disorders: Health Needs Assessment in Brazil.

Background: Fetal alcohol syndrome (FAS) is a disorder caused by alterations in embryo-fetal development due to prenatal alcohol exposure. It is estimated that between 0.5 and 2 per 1,000 individuals are born with FAS every year.

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil.

Objective: The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infection was at its peak in northeast Brazil.

Methods: This was a cross-sectional study where all notifications of congenital microcephaly in the state of Rio Grande do Sul were included for analysis. Evaluation of cases followed the guidelines of the Brazilian Ministry of Health.

From abortion-inducing medications to Zika Virus Syndrome: 27 years experience of the First Teratogen Information Service in Latin America.

In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is to present the activities of SIAT in its initial years (1990-2006), compared to those in the last decade (2007-2017).

CD4+ T Lymphocytes Subsets in Early Life: Does Exclusive Breastfeeding Promote Allergy?

Breastfeeding provides ideal nutrition and passive immunization for growing infants, protecting them from potentially fatal infectious diseases. Exclusive breastfeeding is recommended for at least six months and should be continued complementarity for another year. One of the justifications for this recommended practice is the prevention of allergic diseases, which has been controversial for many years.

Wavelet-based information filtering for fault diagnosis of electric drive systems in electric ships.

Electric machines and drives have enjoyed extensive applications in the field of electric vehicles (e.g., electric ships, boats, cars, and underwater vessels) due to their ease of scalability and wide range of operating conditions.

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

Objective: To evaluate the efficacy and safety of IV laronidase for MPS I.

Methods: A systematic literature review was performed by searching the ClinicalTrials.gov, MEDLINE/PubMed, EMBASE, LILACS, and Cochrane Library databases, limited to clinical trials published until December 31, 2016.

Teratogens: a public health issue - a Brazilian overview.

Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects.

The phenotypic spectrum of congenital Zika syndrome.

In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF.

Resistance training prevents the cardiovascular changes caused by high-fat diet.

Aims: Aerobic exercise is indicated for prevention and treatment of obesity-induced cardiovascular disorders. Although the resistance training (RT) may also produce effects similar to aerobic exercise, this is not completely clear yet. In the present study, we tested if RT in moderate intensity might prevent alterations in blood pressure (BP), sympathetic modulation of systolic blood pressure (SBP), baroreflex function and the changes in renin-angiotensin system (RAS) and cytokines mRNA expression within the nucleus of the tract solitary (NTS) in rats fed with high-fat diet (HFD).

[Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

Purpose: To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition.

Methods: A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy.

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

In some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of PHGDH. Serial ultrasound (US) and pre- and postnatal magnetic resonance imaging (MRI) evaluations were performed.

Impact on pregnancies in south Brazil from the influenza A (H1N1) pandemic: cohort study.

Introduction: The emergence of a new subtype of the influenza virus in 2009 generated interest in the international medical community, the media, and the general population. Pregnant women are considered to be a group at risk of serious complications related to the H1N1 influenza virus. The aim of this study was to evaluate the outcomes and teratogenic effects of pregnancies exposed to the H1N1 virus during the Influenza A epidemic that occurred in the state of Rio Grande do Sul in 2009.

The value of a tumor bank in the development of cancer research in Brazil: 13 years of experience at the a C camargo hospital.

This article discusses the importance of biobanking to health research advancement in developing countries by analyzing the impact of the establishment of a tumor bank at the A C Camargo Hospital, a cancer care and research center located in Sao Paulo, Brazil. For the past 13 years, the human biological samples provided by the tumor bank have been used by investigators to study various types of cancer. We analyze the impact of biobanking in the overall quality of research projects performed at our institution.

Flow analysis of left internal thoracic artery in myocardial revascularization surgery using y graft.

In order to evaluate the left internal thoracic artery flow pattern, when the vessel is used as a graft to supply the left coronary artery system, we evaluated flow by Doppler measurement, both at rest and under dobutamine stress. There were 2 groups of 20 patients each: group A patients received only a left internal thoracic artery graft to the left anterior descending artery, and group B patients received a pedicled left internal thoracic artery graft associated with a vein graft, which together supplied the left anterior descending artery and another branch of the left coronary artery. Angiography showed patent grafts in all patients from both groups.

Vineberg's procedure modified technique: flow analysis, immediate postoperative results and angiographic evaluation.

Background: The purpose of this study was to evaluate angiographic results of patients subjected to a technique variation of Vineberg's procedure, as well as their morbidity and mortality in immediate postoperative period, and to analyze the flow of grafted left internal thoracic artery (LITA) at rest and under stress.

Methods: Between September 1999 and April 2002 eight patients were operated upon, with implant of the internal thoracic artery (ITA) in the intimal layer of the left ventricle (LV) muscle. After 6 months, they underwent angiographic and Doppler evaluation.