Epidemiology of tongue squamous cell carcinoma: A retrospective cohort study.

OBJECTIVE: To analyze the epidemiological profile and the specific survival of patients diagnosed with tongue squamous cell carcinoma at the National Cancer Institute (INCA). MATERIALS AND METHODS: Hospital Cancer Registry System Data and Mortality Information from 2007 to 2009 were retrieved in a retrospective cohort study of patients diagnosed with tongue squamous cell carcinoma. Specific survival was estimated using the Kaplan-Meier method. The association between independent variables and the risk of death was explored in a Cox proportional hazards regression model. RESULTS: A total of 346 patients were eligible, mostly male (77.5%), smokers (87.6%), with alcohol consumption (80.9%), with low education (65.6%), advanced staging at the time of diagnosis (71.1%), and presenting a high mortality rate (72.5%). In total, 44.5% of patients underwent a surgical approach alone or associated with another treatment modality, of which 85.1% of patients underwent neck dissection and 90.1% had free surgical margins. Specific survival was 40.6% in two years and 31.2% in five years. CONCLUSION: The 5-year specific survival was considered worse in individuals over 60 years, and who did not undergo surgical treatment or had surgery associated with another treatment, compared to patients undergoing isolated surgery.

Development of an independent MU calculation software for radiotherapy treatments with stereotactic cones.

PURPOSE: Development of an independent MU calculator (StereoCalc) with and without heterogeneity corrections for stereotactic treatments, in a Varian TrueBeam STx LINAC using stereotactic cones, with flattening filter-free photon energies. METHODS: Multiple depth curves and output factors were measured, following the dosimetry formalism for small fields proposed by the TRS-483. The developed StereoCalc imports and processes the beam data files and calculates the patient plans with and without heterogeneity correction. Validation of the developed software was carried out using phantoms. The accuracy of the StereoCalc software was verified in stereotactic patient plans. RESULTS: A maximum difference of 2.47% and 2.07% was obtained in the phantom validation tests with and without heterogeneity correction, respectively. The mean percentual difference of StereoCalc from cone dose calculation (CDC) in the clinical testing was 2.86% ±1.27% and 0.78% ±0.48% with and without heterogeneity correction, respectively. The largest differences found were 7.34% and 1.98%, respectively. CONCLUSIONS: The results obtained in this work show that the MU calculated with StereoCalc software is in good agreement with the values calculated by the treatment planning systems, both in static fields and arcs. We have also improved the software to consider heterogeneity corrections calculations. As expected, and as a major achievement of this work, some differences were observed when heterogeneities were considered. StereoCalc proved to be a powerful tool that can be integrated into the specific quality assurance program in a medical physics department for independent verification in stereotactic treatment with cones.

Species richness and functional structure of fish assemblages in three freshwater habitats: effects of environmental factors and management.

In this study, the inverted trophic hypothesis was tested in the freshwater fish communities of a reservoir. The distribution of fish species in three freshwater habitats in the Jurumirim Reservoir, Brazil, was examined using both species richness and the relative proportions of different trophic groups. These groups were used as a proxy for functional structure in an attempt to test the ability of these measures to assess fish diversity. Assemblage structures were first described using non-metric multidimensional scaling (NMDS). The influence of environmental conditions for multiple fish assemblage response variables (richness, total abundance and abundance per trophic group) was tested using generalised linear mixed models (GLMM). The metric typically employed to describe diversity; that is, species richness, was not related to environmental conditions. However, absolute species abundance was relatively well explained with up to 54% of the variation in the observed data accounted for. Differences in the dominance of trophic groups were most apparent in response to the presence of introduced fish species: the iliophagous and piscivorous trophic groups were positively associated, while detritivores and herbivores were negatively associated, with the alien species. This suggests that monitoring functional diversity might be more valuable than species diversity for assessing effects of disturbances and managements policies on the fish community.

Maternal smoking during pregnancy and fetal biometry: the INMA Mother and Child Cohort Study.

In utero tobacco exposure has been associated with fetal growth restriction, but uncertainty remains about critical windows of exposure and specific effects on body segments. In the present study, we aimed to examine the association of maternal smoking with fetal biometry in different stages of pregnancy. The study population comprised 2,478 fetuses from a Spanish birth cohort study that was established between 2003 and 2008. Biparietal diameter, femur length, abdominal circumference, and estimated fetal weight were evaluated at 12, 20, and 34 weeks of gestation. Fetal size and growth were assessed by standard deviation scores adjusted by maternal and fetal characteristics. Maternal smoking was assessed using questionnaire and a sample of urinary cotinine at week 32 of gestation. Associations were estimated using multiple regression analysis. Smokers at week 12 of gestation showed decreased fetal growth as reflected by all growth parameters at 20-34 weeks, leading to a reduced fetal size at week 34. The reduction was greatest in femur length, at -9.4% (95% confidence interval -13.4, -5.4) and least in abdominal circumference, at -4.4% (95% CI: -8.7, -0.1). Fetuses of smokers who quit smoking before week 12 showed reduced growth only in femur length (-5.5; 95% CI: -10.1, -0.9). Dose-response curves for smoking versus fetal growth parameters (abscissa: log2 cotinine) were linear for biparietal diameter and femur length.

Functional and topological studies with Trp-containing analogs of the peptide StII(1-30) derived from the N-terminus of the pore forming toxin sticholysin II: contribution to understand its orientation in membrane.

Sticholysin II (St II) is the most potent cytolysin produced by the sea anemone Stichodactyla helianthus, exerting hemolytic activity via pore formation in membranes. The toxin's N-terminus contains an amphipathic α-helix that is very likely involved in pore formation. We have previously demonstrated that the synthetic peptide StII(1-30) encompassing the 1-30 segment of St II forms pores of similar radius to that of the protein (around 1 nm), being a good model of toxin functionality. Here we have studied the functional and conformational properties of fluorescent analogs of StII(1-30) in lipid membranes. The analogs were obtained by replacing Leu residues at positions 2, 12, 17, and 24 with the intrinsically fluorescent amino acid Trp (StII(1-30L2W), StII(1-30L12W), StII(1-30L17W), or StII(1-30L24W), respectively). The exchange by Trp did not significantly modify the activity and conformation of the parent peptide. The blue-shift and intensity enhancement of fluorescence in the presence of membrane indicated that Trp at position 2 is more deeply buried in the hydrophobic region of the bilayer. These experiments, as well as assays with water-soluble or spin-labeled lipid-soluble fluorescence quenchers suggest an orientation of StII(1-30) with its N-terminus oriented towards the hydrophobic core of the bilayer while the rest of the peptide is more exposed to the aqueous environment, as hypothesized for sticholysins.

Nyssorhynchus darlingi genome-wide studies related to microgeographic dispersion and blood-seeking behavior.

BACKGROUND: In Brazil, malaria is concentrated in the Amazon Basin, where more than 99% of the annual cases are reported. The main goal of this study was to investigate the population structure and genetic association of the biting behavior of Nyssorhynchus (also known as Anopheles) darlingi, the major malaria vector in the Amazon region of Brazil, using low-coverage genomic sequencing data. METHODS: Samples were collected in the municipality of Mâncio Lima, Acre state, Brazil between 2016 and 2017. Different approaches using genotype imputation and no gene imputation for data treatment and low-coverage sequencing genotyping were performed. After the samples were genotyped, population stratification analysis was performed. RESULTS: Weak but statistically significant stratification signatures were identified between subpopulations separated by distances of approximately 2-3 km. Genome-wide association studies (GWAS) were performed to compare indoor/outdoor biting behavior and blood-seeking at dusk/dawn. A statistically significant association was observed between biting behavior and single nucleotide polymorphism (SNP) markers adjacent to the gene associated with cytochrome P450 (CYP) 4H14, which is associated with insecticide resistance. A statistically significant association between blood-seeking periodicity and SNP markers adjacent to genes associated with the circadian cycle was also observed. CONCLUSION: The data presented here suggest that low-coverage whole-genome sequencing with adequate processing is a powerful tool to genetically characterize vector populations at a microgeographic scale in malaria transmission areas, as well as for use in GWAS. Female mosquitoes entering houses to take a blood meal may be related to a specific CYP4H14 allele, and female timing of blood-seeking is related to circadian rhythm genes.

Cloth masks in public places: an essential intervention to prevent COVID-19 in Brazil. / Máscaras de tecido em locais públicos: intervenção essencial na prevenção da COVID-19 no Brasil.

There is increasing evidence that the use of masks is an indispensable protective measure against COVID-19, given the high transmissibility of the new coronavirus through the respiratory system, including by asymptomatic individuals. The use of cloth masks in public places has been established as a protective measure to be adopted alongside social distancing and hand hygiene. This narrative review aims to systematize the scientific evidence that informs the widespread use of cloth masks as a preventive measure against COVID-19 and to describe the evolution of positions contrary to or in favor of its use outside the home, in view of the advance of the new coronavirus pandemic globally. The scientific articles, technical notes, governmental decrees and other documents analyzed indicate that widespread use of masks has the potential to reduce the spread of the new coronavirus. We recommend that the Brazilian government adopt strategies to increase the supply of reusable cloth masks to the public, especially to vulnerable populations and to support studies on the impact of this measure to control the pandemic in the country. Finally, it is imperative to ensure that use of masks does not exacerbate stigmatization of racial groups that already face prejudice.

Acumulam-se evidências de que o uso de máscaras é uma medida indispensável de proteção à COVID-19, devido ao alto poder de transmissão do novo coronavírus por via respiratória, inclusive por indivíduos assintomáticos. Por sua vez, o uso das máscaras de tecido em locais públicos tem se consolidado como medida adicional de proteção às medidas de distanciamento social e higienização das mãos. Objetivou-se sistematizar as evidências científicas que justificam o amplo uso de máscaras de tecido como prevenção à COVID-19 e descrever a evolução dos posicionamentos contrários ou favoráveis ao seu uso em ambientes extradomiciliares, diante do avanço da pandemia do novo coronavírus pelo mundo. A triagem de artigos e documentos oficiais do Brasil e de outros países indica que o uso de máscaras em locais públicos tornou-se uma intervenção essencial graças ao potencial de reduzir a velocidade de propagação do novo coronavírus. Recomenda-se que o poder público adote estratégias para aumentar a oferta deste produto e fomente estudos para avaliação do impacto da medida no controle da pandemia no Brasil. É imperativo assegurar disponibilidade de máscaras a grupos socioeconomicamente desfavorecidos e garantir que determinados grupos raciais não sejam estigmatizados diante do uso de máscaras em ambientes extradomiciliares.

Neonates Born to Mothers With COVID-19: Data From the Spanish Society of Neonatology Registry.

OBJECTIVES: To describe neonatal and maternal characteristics of the largest prospective cohort of newborns from mothers with coronavirus disease 2019 (COVID-19), the data of which were prospectively collected from the nationwide registry of the Spanish Society of Neonatology. METHODS: Between March 8, 2020, and May 26, 2020, the data of 503 neonates born to 497 mothers diagnosed with COVID-19 during pregnancy or at the time of delivery were collected by 79 hospitals throughout Spain. RESULTS: Maternal symptoms were similar to that of the general population, with 5% of severe forms. In 45.8% of asymptomatic women at the time of delivery, severe acute respiratory syndrome coronavirus 2 infection was detected because of recommendations established in Spain to perform COVID-19 screening in all women admitted to the hospital for labor. The rate of preterm deliveries was 15.7% and of cesarean deliveries, 33%. The most common diagnostic test was detection of viral RNA by polymerase chain reaction of nasopharyngeal swabs at a median age of 3 hours after delivery (1-12 hours). Almost one-half of neonates were left skin-to-skin after delivery, and delayed clamping of umbilical cords was performed in 43% of neonates. Also, 62.3% of asymptomatic neonates were managed with rooming-in. Maternal milk was received by 76.5% of neonates, 204 of them as exclusive breastfeeding. CONCLUSIONS: The current study indicates that there is no need for separation of mothers from neonates, allowing delayed cord clamping and skin-to-skin contact along with maintenance of breastfeeding in a high percentage of newborns from mothers with COVID-19.

Neonatal Infection Due to SARS-CoV-2: An Epidemiological Study in Spain.

Objective: Coronavirus disease 2019 (COVID-19) cases caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue to increase worldwide. Although some data from pediatric series are available, more evidence is required, especially in neonates, a group with specific characteristics that deserve special attention. This study aimed to describe general and clinical characteristics, management, and treatment of postnatal-acquired (community and nosocomial/hospital-acquired) COVID-19 neonatal cases in Spain. Methods: This was a national prospective epidemiological study that included cases from a National Registry supported by the Spanish Society of Neonatology. Neonates with postnatal SARS-CoV-2 infection were included in this study. General data and infection-related information (mode and source of transmission, age at diagnosis, clinical manifestations, need for hospitalization, admission unit, treatment administered, and complementary studies performed, hospital stay associated with the infection) were collected. Results: A total of 40 cases, 26 community-acquired and 14 nosocomial were registered. Ten were preterm newborns (2 community-acquired and 8 nosocomial COVID-19 cases). Mothers (in both groups) and healthcare workers (in nosocomial cases) were the main source of infection. Hospital admission was required in 22 community-acquired cases [18 admitted to the neonatal intermediate care unit (NIMCU) and 4 to the neonatal intensive care unit (NICU)]. Among nosocomial COVID-19 cases (n = 14), previously admitted for other reasons, 4 were admitted to the NIMCU and 10 to the NICU. Ten asymptomatic patients were registered (5 in each group). In the remaining cases, clinical manifestations were generally mild in both groups, including upper respiratory airways infection, febrile syndrome or acute gastroenteritis with good overall health. In both groups, most severe cases occurred in preterm neonates or neonates with concomitant pathologies. Most of the cases did not require respiratory support. Hydroxychloroquine was administered to 4 patients in the community-acquired group and to 2 patients in the nosocomial group. Follow-up after hospital discharge was performed in most patients. Conclusions: This is the largest series of COVID-19 neonatal cases in Spain published to date. Although clinical manifestations were generally mild, prevention, treatment, and management in this group are essential.

Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil.

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a genetic disorder associated with high risk of early major cardiovascular events (MACE) that can impact the health related quality of life (HRQoL), however, this association is unclear. This study evaluated HRQoL in index cases (IC) and first-degree relatives (FDR) of individuals at high risk of FH undergoing genetic cascade screening. METHODS: Data collection was performed before awareness of molecular diagnosis results. Individuals were divided into four groups according to the molecular diagnosis: IC with (IC+) and without (IC-) identified mutations (n = 93 and n = 175, respectively), and affected (FDR+, n = 231) and non-affected (FDR-, n = 159) FDR of IC+. HRQoL measurements, mental (MCS) and physical component (PCS) scores were carried out with SF-12 questionnaire. Associations were tested by generalized linear models. RESULTS: The mean age was 49 ±â€¯15 years, 42.2% were men, MACE had occurred in 30.7%. Overall, both PCS and MCS did not differ between FH and non-FH individuals, however, IC trended to have lower PCS independent of FH presence (p=0.003). Lower PCS were associated with female sex (p=0.018), lower education (p<0.001), professional inactivity (p=0.028), previous MACE occurrence (p<0.001), hypertension (p=0.016), depression (p<0.001) and obesity (p<0.001). Lower MCS were associated with female sex (p=0.009), previous MACE occurrence (p=0.034), depression (p<0.001) and smoking (p=0.009). Neither the presence of FH causing mutations nor pharmacological lipid lowering treatment was associated with HRQoL. CONCLUSIONS: HRQoL is not reduced in both IC and FDR FH individuals in comparison with their non-affected counterparts. Previous MACE and co-morbidities are associated with reduced HRQoL.

Myocardial Viability on Cardiac Magnetic Resonance.

The study of myocardial viability is of great importance in the orientation and management of patients requiring myocardial revascularization or angioplasty. The technique of delayed enhancement (DE) is accurate and has transformed the study of viability into an easy test, not only for the detection of fibrosis but also as a binary test detecting what is viable or not. On DE, fibrosis equal to or greater than 50% of the segmental area is considered as non-viable, whereas that below 50% is considered viable. During the same evaluation, cardiac magnetic resonance (CMR) may also use other techniques for functional and perfusion studies to obtain a global evaluation of ischemic heart disease. This study aims to highlight the current concepts and broadly emphasize the use of CMR as a method that over the last 20 years has become a reference in the detection of infarction and assessment of myocardial viability. Resumo O estudo de viabilidade miocárdica é de grande importância para a orientação e manejo de pacientes que necessitam de cirurgia de revascularização miocárdica ou angioplastia. A técnica de realce tardio (RT) é precisa e transformou o estudo de viabilidade em um teste fácil, não só para a detecção de fibrose, mas também como um modelo binário para a detecção do que é ou não é viável. Uma fibrose identificada pelo RT é considerada como não viável quando igual ou maior do que 50% da área segmentar e como viável quando menor que 50%. A ressonância magnética cardíaca (RMC) também pode lançar mão de outras técnicas para estudo funcional e de perfusão para uma avaliação global da doença isquêmica do coração no mesmo exame. Este estudo tem como objetivo destacar os conceitos atuais e enfatizar amplamente o uso da RMC como um método que nos últimos 20 anos se tornou referência na detecção de infarto e avaliação de viabilidade miocárdica.

Retinopatia hipertensiva maligna secundária a lúpus eritematoso sistêmico em adolescente / Malignant hypertensive retinopathy secondary to systemic lupus erythematous in adolescent

RESUMO O lúpus eritematoso sistêmico é uma doença que pode apresentar comprometimento oftalmológico geralmente benigno, sendo as alterações mais encontradas a síndrome do olho seco e a catarata. Nos pacientes com a doença estável, o dano oftalmológico parece estar relacionado ao tratamento sistêmico a longo prazo, o que enfatiza a importância do exame oftalmológico completo de rotina. Porém, quando a doença está em franca atividade e, em especial, quando há o envolvimento renal, deve-se iniciar o tratamento precoce com corticoterapia sistêmica e com medidas de suporte, para se evitarem repercussões mais complexas, como as crises hipertensivas que podem levar ao óbito.

ABSTRACT Systemic lupus erythematosus may present ophthalmological involvement, usually benign, and the most common changes are dry eye syndrome and cataract. In patients with stable disease, ophthalmologic damage appears to be related to long-term systemic treatment, emphasizing the importance of routine complete ophthalmologic examination. However, in full-blown disease, especially when there is renal involvement, early treatment should start with systemic steroid therapy and supportive measures, to avoid major repercussions, such as hypertensive crises that may lead to death.

Technical issues and conservation conditions of medicines in the primary health care of the Brazilian Unified Health System.

OBJECTIVE: To characterize the technical issues and conditions of medicines conservation in Primary Health Care of Brazilian regions, responsible for pharmacy/dispensing unit profile; environmental, storage, and dose fractioning conditions; inventory control and waste management; fire and electrical failure safety items; transportation problems; advertising regulation; and pharmacovigilance. METHODS: This article is part of the Pesquisa Nacional sobre Acesso, Utilização e Promoção do Uso Racional de Medicamentos - Serviços (National Survey on Access, Use and Promotion of Rational Use of Medicines - Services)-, a cross-sectional and exploratory study, of evaluative nature, consisting of an information survey within a representative sample of municipalities, stratified by Brazilian regions, which constitute the study domains, and a sample of Primary Health Care services. Pharmaceutical services (PS) were directly observed with photographic record and face-to-face interviews with those responsible for the dispensing of medicines and over the telephone with those responsible for pharmaceutical services. Data were processed with the SPSS® software version 21. RESULTS: The investigated dimensions showed relevant deficiencies and inequalities between the regions, generally more favorable in the Southeast and Midwest regions and weaker in the Northeast and North regions. We verified non-compliance with technical requirements and conditions essential to the conservation of medicines, which may interfere with the maintenance of stability and, thus, on their quality, efficacy, and safety. The regulation of advertising/promotion of medicines is still incipient and there is some progress in the structuring of mechanisms regarding pharmacovigilance. CONCLUSIONS: The sanitary situation of medicines in Brazilian Primary Health Care is alarming due to the violation of the specific sanitary legislation for dispensing establishments and due to a wide range of requirements essential to the conservation of medicines. We observed a disconnection between the efforts made in the Brazilian Unified Health System to promote access to medicines for all population and the organization and qualification of pharmaceutical services.

Reliability and Validity of the Brazilian Version of the Late-Life Function and Disability Instrument.

OBJECTIVE: We evaluated the test-retest reliability, internal consistency, and construct validity of the Brazilian version of the Late-Life Function and Disability Instrument. METHOD: A sample of 118 older adults provided data for testing construct validity and internal consistency, and 14 provided data for testing test-retest reliability. Factor analysis with varimax rotation was used to assess construct validity. RESULTS: The Function component had excellent test-retest and total internal consistency reliability. Factor analysis revealed that the Upper Extremity Function and Advanced Lower Extremity Function domains were similar to the original analysis. The Disability component showed adequate to excellent test-retest reliability, except in the Management role; total internal consistency was excellent. Factor analysis revealed that its domains were similar to the original analysis, except for some items. CONCLUSION: The Late-Life Function and Disability Instrument is recommended for assessment of Brazilian community-dwelling older adults who are functionally independent and who do not require mobility assistance.

As práticas de terapia ocupacional no primeiro ano da pandemia de COVID-19 ­ revisão bibliográfica / Occupational therapy practices in the first year of COVID-19 pandemic ­ literatura review

Em 2020 a COVID-19 chega ao Brasil e logo se confirma transmissão comunitária. São realizados debates que, em meio à falta de coordenação nacional, produzem respostas diferentes em cada nível de governo. Há ênfase na atenção hospitalar, necessária para o atendimento dos casos graves. As mudanças na assistência refletem-se em todos os níveis de atenção em Saúde, Educação e Assistência Social em que terapeutas ocupacionais atuam. Objetivou-se conhecer e agrupar as comunicações cientificas de terapeutas ocupacionais no primeiro ano da pandemia. Em março de 2021 realizou-se uma revisão bibliográfica na Biblioteca Virtual de Saúde que inclui a base Scientific Eletronic Library Online, Portal de Periódicos da Coordenadoria de Aperfeiçoamento de Pessoal de Nível Superior, além do rastreio nas páginas eletrônicas de sete periódicos ibero-americanos de Terapia Ocupacional. Foram utilizados os descritores "occupational therapy" combinado com os descritores "COVID-19", "coronavirus", "pandemics", "quarantine", "syndemics". Foram incluídos títulos com práticas implementadas durante a pandemia, escritos por ao menos um terapeuta ocupacional, cujo texto estava integralmente disponível, perfazendo 17 artigos agrupados por campo, nível de atenção, população. Predomina a atenção hospitalar com práticas adaptadas à biossegurança, seguida da Atenção Básica, e ampla adoção da Telessaúde

In 2020, COVID-19 arrives in Brazil and community transmission is soon confirmed. Debates are held in the midst of a lack of national coordination, which produces different responses at each level of government. There is an emphasis on hospital care, necessary for the care of severe cases. Changes in care occur in all levels of Health, Education and Social Assistance in which occupational therapists work. The objective was to know and group the scientific communications of occupational therapists in the first year of the pandemic. In March 2021, a bibliographic review was carried out in the Virtual Health Library, which includes the Scientific Electronic Library Online database, the Journal Portal of the Coordination for the Improvement of Higher Education Personnel, in addition to screening the electronic pages of seven Ibero-American journals of Occupational therapy. The descriptors "occupational therapy" were used combined with the descriptors "COVID-19", "coronavirus", "pandemics", "quarantine", "syndemics". Items with practices implemented during the pandemic, written by at least one occupational therapist, whose text was fully available, were included, totaling 17 articles grouped by field, level of care, population. Hospital care with practices adapted to containment of biohazards predominates, followed by Primary Care, and wide adoption of Telehealth.

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.

OBJECTIVES: To establish a genetic and clinical diagnosis in a newborn with fetal-onset dilated cardiomyopathy using next-generation sequencing technologies. METHODS: We have conducted the clinical evaluation of the proband and the molecular characterization of his disease by means of whole-exome sequencing. In addition, the clinical evaluation and subsequent genetic screening of five relatives has been performed. This comprises two males with features of left ventricular noncompaction cardiomyopathy, two females suspected of being carriers, and one pregnant female at risk of being a carrier and thereby transmitting the disease to her child. RESULTS: We have discovered a novel variant in the TAZ gene by means of whole-exome sequencing. This, together with the performance of further clinical analyses, led to an early diagnosis of Barth syndrome in the proband. The genetic screening of the subject's familial group revealed full cosegregation of the variant with another two affected males and identified several female carriers. CONCLUSIONS: The investigation for Barth syndrome must be considered in male babies and young boys with dilated cardiomyopathy and left ventricular noncompaction. Next-generation sequencing technologies provide an accurate and rapid diagnostic tool in prospectively and retrospectively identifying individuals with this Mendelian syndrome.

Máscaras de tecido em locais públicos: intervenção essencial na prevenção da COVID-19 no Brasil / Cloth masks in public places: an essential intervention to prevent COVID-19 in Brazil

Resumo Acumulam-se evidências de que o uso de máscaras é uma medida indispensável de proteção à COVID-19, devido ao alto poder de transmissão do novo coronavírus por via respiratória, inclusive por indivíduos assintomáticos. Por sua vez, o uso das máscaras de tecido em locais públicos tem se consolidado como medida adicional de proteção às medidas de distanciamento social e higienização das mãos. Objetivou-se sistematizar as evidências científicas que justificam o amplo uso de máscaras de tecido como prevenção à COVID-19 e descrever a evolução dos posicionamentos contrários ou favoráveis ao seu uso em ambientes extradomiciliares, diante do avanço da pandemia do novo coronavírus pelo mundo. A triagem de artigos e documentos oficiais do Brasil e de outros países indica que o uso de máscaras em locais públicos tornou-se uma intervenção essencial graças ao potencial de reduzir a velocidade de propagação do novo coronavírus. Recomenda-se que o poder público adote estratégias para aumentar a oferta deste produto e fomente estudos para avaliação do impacto da medida no controle da pandemia no Brasil. É imperativo assegurar disponibilidade de máscaras a grupos socioeconomicamente desfavorecidos e garantir que determinados grupos raciais não sejam estigmatizados diante do uso de máscaras em ambientes extradomiciliares.

Abstract There is increasing evidence that the use of masks is an indispensable protective measure against COVID-19, given the high transmissibility of the new coronavirus through the respiratory system, including by asymptomatic individuals. The use of cloth masks in public places has been established as a protective measure to be adopted alongside social distancing and hand hygiene. This narrative review aims to systematize the scientific evidence that informs the widespread use of cloth masks as a preventive measure against COVID-19 and to describe the evolution of positions contrary to or in favor of its use outside the home, in view of the advance of the new coronavirus pandemic globally. The scientific articles, technical notes, governmental decrees and other documents analyzed indicate that widespread use of masks has the potential to reduce the spread of the new coronavirus. We recommend that the Brazilian government adopt strategies to increase the supply of reusable cloth masks to the public, especially to vulnerable populations and to support studies on the impact of this measure to control the pandemic in the country. Finally, it is imperative to ensure that use of masks does not exacerbate stigmatization of racial groups that already face prejudice.

Persistence of Breakage in Specific Chromosome Bands 6 Years after Acute Exposure to Oil.

BACKGROUND: The identification of breakpoints involved in chromosomal damage could help to detect genes involved in genetic disorders, most notably cancer. Until now, only one published study, carried out by our group, has identified chromosome bands affected by exposure to oil from an oil spill. In that study, which was performed two years after the initial oil exposure in individuals who had participated in clean-up tasks following the wreck of the Prestige, three chromosomal bands (2q21, 3q27, 5q31) were found to be especially prone to breakage. A recent follow-up study, performed on the same individuals, revealed that the genotoxic damage had persisted six years after oil exposure. OBJECTIVES: To determine whether there exist chromosome bands which are especially prone to breakages and to know if there is some correlation with those detected in the previous study. In addition, to investigate if the DNA repair problems detected previously persist in the present study. DESIGN: Follow-up study performed six years after the Prestige oil spill. SETTING: Fishermen cooperatives in coastal villages. PARTICIPANTS: Fishermen highly exposed to oil spill who participated in previous genotoxic study six years after the oil. MEASUREMENTS: Chromosome damage in peripheral lymphocytes. For accurate identification of the breakpoints involved in chromosome damage of circulating lymphocytes, a sequential stain/G-banding technique was employed. To determine the most break-prone chromosome bands, two statistical methods, the Fragile Site Multinomial and the chi-square tests (where the bands were corrected by their length) were used. To compare the chromosome lesions, structural chromosome alterations and gaps/breaks between two groups of individuals we used the GEE test which takes into account a possible within-individual correlation. Dysfunctions in DNA repair mechanisms, expressed as chromosome damage, were assessed in cultures with aphidicolin by the GEE test. RESULTS: Cytogenetic analyses were performed in 47 exposed individuals. A total of 251 breakpoints in exposed individuals) were identified, showing a non-uniform distribution in the human ideogram. Ten chromosome bands were found to be especially prone to breakage through both statistical methods. By comparing these bands with those observed in certain exposed individuals who had already participated the previous study, it was found in both studies that four bands (2q21, 3q27, 5q31 and 17p11.2) are particularly sensitive to breakage. Additionally, the dysfunction in DNA repair mechanisms was not significantly higher in oil-exposed individuals than in non-exposed individuals. LIMITATIONS: The sample size and the possibility of some kind of selection bias should be considered. Genotoxic results cannot be extrapolated to the high number of individuals who participated occasionally in clean-up tasks. CONCLUSION: Our findings show the existence of at least four target bands (2q21, 3q27, 5q31 and 17p11.2) with a greater propensity to break over time after an acute exposure to oil. The breaks in these bands, which are commonly involved in hematological cancer, may explain the increase of cancer risk reported in chronically benzene-exposed individuals. In addition, a more efficiency of the DNA repair mechanisms has been detected six years after in fishermen who were highly exposed to the oil spill. To date, only this study, performed by our group on the previous and present genotoxic effects, has analyzed the chromosomal regions affected by breakage after an acute oil exposure.