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Abstract Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. However, in Brazil, the use of CMA is still limited, due to its high cost and complexity in integrating the results from both the private and public health systems. Although Brazil has one of the world’s largest single-payer public healthcare systems, nearly all patients referred for CMA come from the private sector, resulting in only a small number of CMA studies in Brazilian cohorts. To date, this study is by far the largest Brazilian cohort (n = 5788) studied by CMA and is derived from a joint collaboration formed by the University of São Paulo and three private genetic diagnostic centers to investigate the genetic bases of neurodevelopmental disorders and congenital abnormalities. We identified 2,279 clinically relevant CNVs in 1886 patients, not including the 26 cases of UPD found. Among detected CNVs, the corresponding frequency of each category was 55.6% Pathogenic, 4.4% Likely Pathogenic and 40% VUS. The diagnostic yield, by taking into account Pathogenic, Likely Pathogenic and UPDs, was 19.7%. Since the rational for the classification is mostly based on Mendelian or highly penetrant variants, it was not surprising that a second event was detected in 26% of those cases of predisposition syndromes. Although it is common practice to investigate the inheritance of VUS in most laboratories around the world to determine the inheritance of the variant, our results indicate an extremely low cost–benefit of this approach, and strongly suggest that in cases of a limited budget, investigation of the parents of VUS carriers using CMA should not be prioritized.

Although restricting over-the-counter (OTC) antimicrobial drug sales is recommended globally, no data track its effect on antimicrobial resistance (AMR) in bacteria. We evaluated the effect of a national policy restricting OTC antimicrobial sales, put in place in November 2010, on AMR in a metropolitan region of São Paulo, Brazil. We reviewed associations between antimicrobial sales from private pharmacies and AMR in 404,558 Escherichia coli and 5,797 Streptococcus pneumoniae isolates using a dynamic regression model based on a Bayesian approach. After policy implementation, a substantial drop in AMR in both bacterial species followed decreased amoxicillin and trimethoprim/sulfamethoxazole sales. Conversely, increased ciprofloxacin sales were associated with increased ciprofloxacin resistance, and extended spectrum β-lactamases–positive E. coli isolates and azithromycin sales increases after 2013 were associated with increased erythromycin resistance in S. pneumoniae isolates. These findings suggest that restricting OTC antimicrobial sales may influence patterns of AMR, but multifaceted approaches are needed to avoid unintended consequences.

Brazil is the country with the second-largest number of deaths due to the coronavirus disease-2019 (COVID-19). Two variants of concern (VOCs), Alpha (B.1.1.7) and Gamma (P.1), were first detected in December 2020. While Alpha expanded within an expected rate in January and February 2021, its prevalence among new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) cases started to decrease in March, which coincided with the explosion of Gamma variant incidence all over the country, being responsible for more than 95% of the new cases over the following months. A significantly higher viral load [i.e., mean cycle threshold (Ct) values] for Gamma in comparison to non-VOC samples was verified by the analysis of a large data set of routine reverse transcription–PCR (RT–PCR) exams. Moreover, the rate of reinfections greatly increased from March 2021 onward, reinforcing the enhanced ability of Gamma to escape the immune response. It is difficult to predict the outcomes of competition between variants since local factors like frequency of introduction and vaccine coverage play a key role. Genomic surveillance is of uttermost importance for the mitigation of the pandemic.

In December 2020, research surveillance detected the B.1.1.7 lineage of severe acute respiratory syndrome coronavirus 2 in São Paulo, Brazil. Rapid genomic sequencing and phylogenetic analysis revealed 2 distinct introductions of the lineage. One patient reported no international travel. There may be more infections with this lineage in Brazil than reported.

Este artigo tem por intuito discutir a ressignificação do conceito de liberdade à luz da teoria comunicativa de Jürgen Habermas. O problema enfrentado consiste em que a liberdade, enquanto reflexo do paradigma liberal, não mais atende às necessidades das sociedades contemporâneas, e enquanto conceito reconstruído pelo republicanismo, não dá conta de garantir a proteção e a autonomia dos sujeitos individuais. Lança-se mão, pois, da hipótese de que a consolidação de um entendimento comunicativo da liberdade, como feito por Habermas, é a única capaz de resguardar a moral, a justiça e a independência individual. Pretende-se demonstrar o caráter intersubjetivo da liberdade, tomando-a como elemento central da emancipação dos indivíduos pela razão comunicativa. Para isso será elaborado um resgate filosófico dos conceitos de liberdade dentro da dualidade histórica que vem sendo tomada entre liberais e republicanos, a partir das visões de Benjamin Constant, Isaiah Berlin e Philip Pettit. Ao final, com o auxílio de Flávio Siebeneichler, objetiva-se demonstrar que a racionalidade discursiva, única de potencial emancipatório, encontra na liberdade comunicativa de Habermas o elemento chave para o seu funcionamento. Quanto à metodologia, a pesquisa se caracteriza como bibliográfica e exploratória, uma vez que pretende fazer uma discussão, a partir de obras já publicadas, para melhor compreensão do tema.

Eichmann em Jerusalém é fruto da análise do julgamento do nazista Adolf Eichmann em 1961. Hannah Arendt fora enviada pelo jornal New Yorker para cobrir o julgamento que, ao final, resultou na sua obra mais polêmica e que mais tarde levou à própria decadência da aceitação da autora nas comunidades judaicas, na Europa e nos Estados Unidos.