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Atherosclerotic Cardiovascular Disease (ASCVD) represents the leading cause of death worldwide, and individual screening should be based on behavioral, metabolic, and genetic profile derived from data collected in large population-based studies. Due to the polygenic nature of ASCVD, we aimed to assess the association of genomics with ASCVD risk and its impact on the occurrence of acute myocardial infarction, stroke, or peripheral artery thrombotic-ischemic events at population level. CardioVascular Genes (CV-GENES) is a nationwide, multicenter, 1:1 case-control study of 3,734 patients in Brazil. Inclusion criterion for cases is the first occurrence of one of the ASCVD events. Individuals without known ASCVD will be eligible as controls. A core lab will perform the genetic analyses through low-pass whole genome sequencing and whole exome sequencing. In order to estimate the independent association between genetic polymorphisms and ASCVD, a polygenic risk score (PRS) will be built through a hybrid approach including effect size of each Single Nucleotide Polymorphism (SNP), number of effect alleles observed, sample ploidy, total number of SNPs included in the PRS, and number of non-missing SNPs in the sample. In addition, the presence of pathogenic or likely pathogenic variants will be screened in 8 genes (ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9) associated with atherosclerosis. Multiple logistic regression will be applied to estimate adjusted odds ratios (OR) and 95% confidence intervals (CI), and population attributable risks will be calculated. Clinical trial registration: This study is registered in clinicaltrials.gov (NCT05515653).

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A obesidade é considerada um dos maiores problemas de saúde pública mundial, sendo caracterizada como uma epidemia global, e durante a pandemia de COVID-19, o isolamento social e as mudanças nos hábitos de vida podem ter influenciado para o aumento dos índices de obesidade em crianças e adolescentes. Assim, o objetivo do estudo é analisar na literatura de que forma a pandemia de COVID-19 pode ter influenciado no aumento da obesidade infantil. Trata-se de uma revisão integrativa da literatura, com busca feita nas bases de dados Cinahl, PubMed e Scopus, com uso de descritores e booleanos aplicados em cada base de dados. Ao todo 14 estudos foram incluídos nesta revisão. A maioria dos estudos tinha ênfase avaliação de intervenções, bem como comparação das taxas de obesidade antes e durante a pandemia, e os efeitos dessas mudanças a longo prazo. Além de enfatizar sobre a participação dos pais e a construção de políticas públicas no combate à epidemia global de obesidade infantil. A pandemia contribuiu para o aumento de casos de sobrepeso e obesidade, bem como agravou os casos de crianças que já apresentavam tais características. Desta forma compreender sobre a situação desse problema de saúde, após um longo período de confinamento, pode auxiliar e engajar os profissionais da saúde na construção e estabelecimento de estratégias no combate da obesidade infantil e incentivar a participação dos pais na promoção de mudanças no estilo de vida.

Obesity is considered a major public health problem worldwide, being characterized as a global epidemic, and during the COVID-19 pandemic, social isolation and changes in lifestyle habits may have influenced the increase in obesity rates in children and adolescents. Thus, the purpose of the study is to analyze in the literature how the COVID-19 pandemic may have influenced the increase in childhood obesity. This is an integrative literature review, with a search conducted in the Cinahl, PubMed, and Scopus databases, with the use of descriptors and booleans applied in each database. A total of 14 studies were included in this review. Most of the studies had an emphasis on evaluation of interventions, as well as comparison of obesity rates before and during the pandemic, and the long-term effects of these changes. In addition to emphasizing on parent participation and building public policy to combat the global epidemic of childhood obesity. The pandemic contributed to the increase of overweight and obesity cases, as well as worsened the cases of children who already presented such characteristics. Thus, understanding the situation of this health problem after a long period of confinement can help and engage health professionals in the construction and establishment of strategies to combat childhood obesity and encourage parental participation in promoting lifestyle changes.

La obesidad es considerada un importante problema de salud pública a nivel mundial, caracterizándose como una epidemia mundial, y durante la pandemia de COVID-19, el aislamiento social y los cambios en los hábitos de vida pueden haber influido en el aumento de las tasas de obesidad en niños y adolescentes. Así, el propósito del estudio es analizar en la literatura cómo la pandemia de COVID-19 pudo haber influido en el aumento de la obesidad infantil. Esta es una revisión integrativa de la literatura, con una búsqueda realizada en las bases de datos Cinahl, PubMed y Scopus, con el uso de descriptores y booleanos aplicados en cada base de datos. En esta revisión se incluyeron un total de 14 estudios. La mayoría de los estudios hicieron hincapié en la evaluación de las intervenciones, así como en la comparación de las tasas de obesidad antes y durante la pandemia, y los efectos a largo plazo de estos cambios. Además de enfatizar en la participación de los padres y construir políticas públicas para combatir la epidemia mundial de obesidad infantil. La pandemia ha contribuido al aumento de los casos de sobrepeso y obesidad, así como al empeoramiento de los casos de niños que ya presentan tales características. Por lo tanto, comprender la situación de este problema de salud después de un largo período de encierro puede ayudar y comprometer a los profesionales de la salud en la construcción y establecimiento de estrategias para combatir la obesidad infantil y fomentar la participación de los padres en la promoción de cambios en el estilo de vida.

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Introduction: Recent changes in labor relations and the employment market in university education have posed significant challenges and increased workloads for faculty a situation that has been exacerbated by the global epidemiological status in 2020. Objectives: To investigate the presence of mental disorders and associated factors in faculty members at a private university in São Paulo, Brazil. Methods: This is a quantitative, descriptive, exploratory cross-sectional study conducted in June 2021, using online questionnaires to collect social and demographic and lifestyle data, namely, Self-Reporting Questionnaire (SRQ-20) and the Patient Health Questionnaire (PHQ-9). The presence of associations between variables was investigated using odds ratio and relative risk. Results: Participants included 49 professors, mostly women, aged between 29-78. Among the subjects, 61.2% had a body mass index above the recommended level and 40.8% were considered sedentary. A chronic illness was reported by 40.8% and 65.3% reported continued-use medication. A common mental disorder was reported by 28.5%, and the same prevalence was found for depression, with a positive association with being considered sedentary, overweight or obese, drinking alcohol at least once a week, and having worked as a professor for less than 5 years. Conclusions: The study showed a significant level of emotional distress among professors, associated with lifestyle habits that can compromise their quality of life and professional performance.

Introdução: Recentes mudanças nas relações e mercado de trabalho no setor da educação superior trazem desafios e sobrecargas importantes aos corpos docentes, o que, pela emergência da situação epidemiológica mundial, foi agravado no ano de 2020. Objetivos: Investigar a presença de transtornos mentais e fatores associados em docentes do ensino superior em instituição privada do interior do estado de São Paulo. Métodos: Pesquisa quantitativa, descritiva exploratória, de corte transversal, transcorrida em junho de 2021, utilizando-se de instrumentos por meio digital contendo dados sociodemográficos e de hábitos de vida: o Self Reporting Questionnaire e o Patient Health Questionnaire. Investigada a presença de associações entre variáveis por meio da razão de chance (odds ratio) e do risco relativo. Resultados: Participaram 49 docentes, em sua maioria do sexo feminino, entre os 29 e 78 anos. Em 61,2% dos indivíduos, o índice de massa corporal esteve acima do recomendado e, ainda, 40,8% foram pontuados como sedentários. A presença de doença crônica foi relatada por 40,8%, e o uso contínuo de medicamentos por 65,3%. A presença de transtorno mental comum esteve presente em 28,5%, sendo a mesma prevalência encontrada de quadros depressivos, apresentando associação positiva com o reconhecer-se sedentário, sobrepeso ou obesidade, consumo de bebida alcoólica pelo menos uma vez na semana e tempo de trabalho docente menor que 5 anos. Conclusões: O estudo apontou um quadro relevante de sofrimentos mentais entre os docentes, associados a hábitos de vida, que podem comprometer a qualidade de vida e de trabalho.

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O Parkour é uma prática que vem ganhando espaço nas cidades brasileiras, uma vez que o mobiliário urbano apresenta um cenário perfeito para essa manifestação. O objetivo deste trabalho foi investigar o surgimento e o desenvolvimento do Parkour em Vitória, Espírito Santo. Trata-se de uma pesquisa qualitativa exploratória, na qual se utilizou para a coleta de dados a entrevista estruturada com um praticante de reconhecido envolvimento com o Parkour. Com base nos resultados, estabeleceram-se as categorias que trataram da história do Parkour na capital capixaba, os aspectos pedagógicos de seu ensino-aprendizado e o perfil de seus praticantes. Foi possível constatar que o Parkour surgiu em Vitória em 2004 sob forte influência midiática. Seus participantes são na maioria jovens e seu desenvolvimento ocorreu por meio da divulgação empírica entre os grupos de praticantes e como forma de lazer e confraternização.

Parkour is a practice that has been gaining ground in Brazilian cities which, with their urban furniture, form a perfect setting for its exercise. The objective of this work was to investigate the emergence and development of Parkour in Vitória/ES. This is an exploratory qualitative research. A structured interview with a practitioner with recognized involvement with Parkour was used for data collection. Based on the results, categories were established that dealt with the history of Parkour in Vitória, the pedagogical aspects of its teaching-learning and the profile of its practitioners. It was possible to verify that Parkour appeared in the capital of Espírito Santo in 2004 under strong media influence. Its participants are mostly young people and its development was based on empirical dissemination among groups of practitioners and as a form of leisure and socializing.

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The use of creep feeding for preweaning piglets is important to improve the performance of the piglets. The objective of this experiment was evaluate the effect of using or altering the position of piglet's creep feeder during lactation on piglet's performance and on behavior of piglets and sows kept in a hot climate environment. Forty-five sows and their litters at 10 days of lactation were randomly distributed into three treatments: front feeder (FF) - near the side of the sow's head; back feeder (BF) - near the side of the rump of the sow; and no feeder (NF). All piglets were weighed individually to evaluate the average weight, weight gain and coefficient of variation of the weight. Behavior assessments of the piglets and sows were recorded in 3 period. At 15 and 21 d, piglets of the FF treatment were heavier (P ≤ 0.0001) than piglets of the other treatments. At 10-21d piglets of FF treatment had 76.2% less belly nosing behavior than the NF piglets (P=0.015). The treatments had no impact on behavior of the sows. The creep feeders positioned in the front of the farrowing crate increased piglet growth rate and decreased frequency of belly nosing behavior.

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PURPOSE: Pain is considered a stressful experience, related to real or possible tissue damage with emotional, sensory, social and cognitive components. The aim of the study was to evaluate and compare, using a digital algometer, the pressure pain threshold of temporal and masseter muscles of children and adolescents with and without intellectual disability. METHODS: A cross-sectional study was conducted. Data regarding gender and age were collected from the caregiver of children and adolescents with and without intellectual disability. The evaluations followed this sequence: pressure pain threshold of the masseter and temporal muscles, evaluation of pain on touch using the visual analog scale and signs and symptoms of Temporomandibular disorder. The χ2 test, the Kolgomorov-Smirnov test, Student t test and Mann-Whitney test were performed. The significance level was set at 5%. RESULTS: Two homogeneous groups by gender (P = 0.258) and age (P = 0.727) were evaluated, of which 25 children and adolescents presented intellectual disability and another 25 did not have intellectual disability. No significant difference was observed between groups on the pressure pain threshold of the masseter and temporal muscles, nor pressure average or exam time (P > 0.05). Regarding Temporomandibular dysfunction, no difference in signs or symptoms frequency was found (P > 0.05). However, the range of maximum mouth opening was smaller in the intellectual disability group (P = 0.006). CONCLUSION: Children and adolescents with intellectual disability and preserved basic functionalities do not present alterations in pain perception when evaluated with computerized pressure algometer and visual analog scale. They present similar threshold of pain to pressure as those reported by normative children and adolescents. These results emphasize the importance to treat these children and adolescents with intellectual disability with respect to their pain threshold.

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BACKGROUND: In precision integrated pest management, management tactics are implemented only where and when needed, by identifying the sites where the pest population has reached economic thresholds. Tomato, Solanum lycopersicum (Linn.), is a vegetable cultivated worldwide, but its production is reduced by insect pests such as the whitefly, Bemisia tabaci (Genn.). To improve management, there is a need to understand B. tabaci spatial dynamics in tomato fields, which will elucidate colonization patterns and may improve management of this pest. Thus, this study was conducted to assess the spatial autocorrelation, distribution, and colonization patterns of B. tabaci in 19 commercial tomato fields through the growing season. RESULTS: A total of 69 isotropic variograms were fit for B. tabaci. The insect distribution was aggregated with a strong level of spatial dependence. Ranges of spatial dependence varied from 0.53 to 19.05 m and 0.5 to 20 m for adults and nymphs, respectively. Overall, densities of adults and nymphs were higher and reached the economic threshold mainly at the field edges. CONCLUSION: Our results suggest a colonization pattern for B. tabaci starting at the edges and spreading inwards in to the tomato fields. This study can improve B. tabaci management in tomato fields, especially scouting and decision-making to treat fields. Scouting for this pest should be directed to the field edges, with sample points at least 20 m apart from each other for independent insect counts. © 2020 Society of Chemical Industry.

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É possível enxergar o proibicionismo e as pessoas que usam drogas tanto pelas estruturas coercitivas do status quo quanto pela potência das agências. O intuito desta pesquisa é discorrer sobre estas duas perspectivas: uma que parte das estruturas repressoras e chega aos agentes; e outra que parte dos agentes e do poder de seu lócus e chega às possibilidades de modificação das estruturas. Na primeira parte argumenta-se que a construção e a manutenção da política de drogas proibicionista é realizada não só por meios materiais e instituições concretas como também por métodos subjetivos cujos significados ressoam no campo cultural do imaginário coletivo. Na segunda parte, a intenção é visibilizar as agências das pessoas que usam drogas, assim como os coletivos e movimentos antiproibicionistas, trazendo considerações sobre suas imaginações e como elas afetam as estruturas de poder. A pesquisa consiste numa discussão bibliográfica e conceitual e traz considerações inspiradas nas teorias pós e de-coloniais sobre os padrões de poder colonialistas e racistas do status quo e sobre as potências de vida e agências da subalternidade. Por fim, o estudo reflete sobre caminhos epistemológicos e sociais que visibilizem as pessoas que usam drogas.

It is possible to see the prohibitionism and people who use drugs both by the coercive structures of the status quo and by the power of agencies. The aim of this research is to discuss these two perspectives: one that starts from the repressive structures and reaches the agents; and another that departs from the agents and the power of its locus and arrives at the possibilities of modification of the structures. In the first part it is argued that the construction and maintenance of the prohibitionist drug policy is carried out not only by material means and concrete institutions but also by subjective methods whose meanings resonate in the cultural field of the collective imaginary. In the second part, the intention is to make visible the agencies of people who use drugs, as well as the anti-prohibitionist groups and movements, bringing considerations about their imaginations and how they affect the structures of power. The research consists of a bibliographical and conceptual discussion and brings insights inspired by post and decolonial theories about the colonialist and racist power standards of the status quo and the potency of life and agencies of subalternity. Finally, the study reflects on epistemological and social paths to make people who use drugs visible.

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ABSTRACT Gout is considered the most common form of inflammatory arthritis in men over 40 years. The authors present a brief review of the current treatment of gout and discuss the existing pharmacological limitations in Brazil for the treatment of this disease. Although allopurinol is still the main drug administered for decreasing serum levels of uric acid in gout patients in this country, the authors also present data that show a great opportunity for the Brazilian drug market for the treatment of hyperuricemia and gout and especially for patients using private and public (SUS) health care systems.

RESUMO A gota é considerada a forma mais comum de artrite inflamatória em homens acima de 40 anos. Os autores apresentam uma breve revisão sobre o tratamento atual da gota e discutem as limitações farmacológicas existentes no Brasil para o tratamento dessa enfermidade. Apesar de o alopurinol ainda ser a principal medicação para a redução dos níveis de uricemia de pacientes com gota no país, os autores também apresentam dados que apontam para uma grande oportunidade para o mercado farmacológico brasileiro em relação ao tratamento da hiperuricemia e da artrite gotosa e especialmente para pacientes usuários de sistemas privados de saúde e do SUS (Sistema Único de Saúde).

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Gout is considered the most common form of inflammatory arthritis in men over 40 years. The authors present a brief review of the current treatment of gout and discuss the existing pharmacological limitations in Brazil for the treatment of this disease. Although allopurinol is still the main drug administered for decreasing serum levels of uric acid in gout patients in this country, the authors also present data that show a great opportunity for the Brazilian drug market for the treatment of hyperuricemia and gout and especially for patients using private and public (SUS) health care systems.

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A experiência do tempo é uma noção central na fenomenologia filosófica e clínica. O tempo na fenomenologia de Merleau-Ponty é uma experiência mundana, subjetiva e inseparável do sujeito. O filósofo entende a vivência do tempo como uma rede de intencionalidades e não como uma sequência estrutural que se ultrapassa a si mesma. Este artigo descreve a experiência do tempo no pensamento de Merleau-Ponty como possível contribuição para a fenomenologia clínica. O tempo éa tensão dialética entre o passado e o futuro, que só se supera na medida em que, conjuntamente, se conserva, ou ainda, é a ambiguidade entre o retencional e o sucessivo. Propomos a noção de experiência do tempo como processo ambíguo como contribuição para a fenomenologia clínica

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RESUMO:Quinze primers ISSR (entre sequências simples repetidas) foram utilizados para avaliar a diversidade genética entre e dentro de pomares comerciais de Theobroma grandiflorum (Willd. ex Spreng.) K. Schum. Para isso, foram analisados sessenta indivíduos, distribuídos nos três cultivos. Um total de 102 bandas foi amplificado, com uma porcentagem de 52,0% de polimorfismo em nível de espécie e média de 6,8 alelos por primer ISSR. A média do Índice de Conteúdo Polimórfico (PIC) foi de 0,55. Em relação aos índices de diversidade gênica de Nei (H) e de Shannon (I), os cultivos analisados apresentaram os valores: SAR H = 0,114 e I = 0,177; SSL H = 0,108 e I = 0,162 e SEC H = 0,104 e I = 0,156, considerados valores de moderados a baixos. A AMOVA revelou 34,91% da variância total entre os cultivos e 65,09% dentro deles. Os marcadores moleculares ISSR revelaram que há diversidade genética dentro de cada cultivo comercial estudado, portanto é possível selecionar genótipos superiores que poderão ser utilizados para originar cultivos mais uniformes. Esse resultado tem sido considerado de grande relevância, por fornecer ferramentas para a implementação de programas de melhoramento e delineamento de estratégias de conservação ex situ e in situ.

ABSTRACT:Fifteen ISSR (inter-simple sequence repeat) primers were used to evaluate the genetic diversity among and within commercial crops of T. grandiflorum (Willd. ex Spreng.) K. Schum. For this, 60 specimens were analyzed, distributed in three crops. A total of 102 bands were amplified, with a polymorphism percentage of 52.0% at species level and an average of 6.8 alleles per ISSR primer. The average for polymorphism information content (PIC) index was 0.55. In relation to the genetic diversity index of Nei (H), and Shannon (I), crops analyzed showed the following values: : SAR H = 0,114 e I = 0,177; SSL H = 0,108 e I = 0,162 e SEC H = 0,104 e I = 0,156, considered moderate to low values. AMOVA showed 34.91% of total variance among the crops, and 65.09% within them. The ISSR molecular markers revealed that there is genetic diversity within each commercial crops studied, thus is possible to select superior genotypes that can be used to give more uniform crops. This result has been considered of great relevance, to provide tools for breding implementation programs and design conservation strategies ex situ and in situ.

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Fifteen ISSR (inter-simple sequence repeat) primers were used to evaluate the genetic diversity among and within commercial crops of T. grandiflorum (Willd. ex Spreng.) K. Schum. For this, 60 specimens were analyzed, distributed in three crops. A total of 102 bands were amplified, with a polymorphism percentage of 52.0% at species level and an average of 6.8 alleles per ISSR primer. The average for polymorphism information content (PIC) index was 0.55. In relation to the genetic diversity index of Nei (H), and Shannon (I), crops analyzed showed the following values: : SAR H = 0,114 e I = 0,177; SSL H = 0,108 e I = 0,162 e SEC H = 0,104 e I = 0,156, considered moderate to low values. AMOVA showed 34.91% of total variance among the crops, and 65.09% within them. The ISSR molecular markers revealed that there is genetic diversity within each commercial crops studied, thus is possible to select superior genotypes that can be used to give more uniform crops. This result has been considered of great relevance, to provide tools for breding implementation programs and design conservation strategies ex situ and in situ.(AU)

Quinze primers ISSR (entre sequências simples repetidas) foram utilizados para avaliar a diversidade genética entre e dentro de pomares comerciais de Theobroma grandiflorum (Willd. ex Spreng.) K. Schum. Para isso, foram analisados sessenta indivíduos, distribuídos nos três cultivos. Um total de 102 bandas foi amplificado, com uma porcentagem de 52,0% de polimorfismo em nível de espécie e média de 6,8 alelos por primer ISSR. A média do Índice de Conteúdo Polimórfico (PIC) foi de 0,55. Em relação aos índices de diversidade gênica de Nei (H) e de Shannon (I), os cultivos analisados apresentaram os valores: SAR H = 0,114 e I = 0,177; SSL H = 0,108 e I = 0,162 e SEC H = 0,104 e I = 0,156, considerados valores de moderados a baixos. A AMOVA revelou 34,91% da variância total entre os cultivos e 65,09% dentro deles. Os marcadores moleculares ISSR revelaram que há diversidade genética dentro de cada cultivo comercial estudado, portanto é possível selecionar genótipos superiores que poderão ser utilizados para originar cultivos mais uniformes. Esse resultado tem sido considerado de grande relevância, por fornecer ferramentas para a implementação de programas de melhoramento e delineamento de estratégias de conservação ex situ e in situ.(AU)

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ABSTRACT: Fifteen ISSR (inter-simple sequence repeat) primers were used to evaluate the genetic diversity among and within commercial crops of T. grandiflorum (Willd. ex Spreng.) K. Schum. For this, 60 specimens were analyzed, distributed in three crops. A total of 102 bands were amplified, with a polymorphism percentage of 52.0% at species level and an average of 6.8 alleles per ISSR primer. The average for polymorphism information content (PIC) index was 0.55. In relation to the genetic diversity index of Nei (H), and Shannon (I), crops analyzed showed the following values: : SAR H = 0,114 e I = 0,177; SSL H = 0,108 e I = 0,162 e SEC H = 0,104 e I = 0,156, considered moderate to low values. AMOVA showed 34.91% of total variance among the crops, and 65.09% within them. The ISSR molecular markers revealed that there is genetic diversity within each commercial crops studied, thus is possible to select superior genotypes that can be used to give more uniform crops. This result has been considered of great relevance, to provide tools for breding implementation programs and design conservation strategies ex situ and in situ.

RESUMO: Quinze primers ISSR (entre sequências simples repetidas) foram utilizados para avaliar a diversidade genética entre e dentro de pomares comerciais de Theobroma grandiflorum (Willd. ex Spreng.) K. Schum. Para isso, foram analisados sessenta indivíduos, distribuídos nos três cultivos. Um total de 102 bandas foi amplificado, com uma porcentagem de 52,0% de polimorfismo em nível de espécie e média de 6,8 alelos por primer ISSR. A média do Índice de Conteúdo Polimórfico (PIC) foi de 0,55. Em relação aos índices de diversidade gênica de Nei (H) e de Shannon (I), os cultivos analisados apresentaram os valores: SAR H = 0,114 e I = 0,177; SSL H = 0,108 e I = 0,162 e SEC H = 0,104 e I = 0,156, considerados valores de moderados a baixos. A AMOVA revelou 34,91% da variância total entre os cultivos e 65,09% dentro deles. Os marcadores moleculares ISSR revelaram que há diversidade genética dentro de cada cultivo comercial estudado, portanto é possível selecionar genótipos superiores que poderão ser utilizados para originar cultivos mais uniformes. Esse resultado tem sido considerado de grande relevância, por fornecer ferramentas para a implementação de programas de melhoramento e delineamento de estratégias de conservação ex situ e in situ.

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3ß-hydroxysteroid dehydrogenase II (3ß-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) are characteristic, but extra-adrenal conversion to 17-hydroxyprogesterone (17OHP) may lead to positive results on newborn screening tests. Filter paper 17OHP on newborn screening test was performed by immunofluorometric assay, and serum determinations of 17OHP and Δ517OHP, by radioimmunoassay. A 46,XY infant with genital ambiguity and adrenal crisis at three months of age presented a positive result on newborn screening for CAH. Serum determinations of 17OHP and Δ517OHP were elevated, and a high Δ517OHP/cortisol relation was compatible with the diagnosis of 3ß-HSD deficiency. Molecular analysis of the HSD3B2 gene from the affected case revealed the presence of the homozygous p.P222Q mutation, whereas his parents were heterozygous for it. We present the first report of 3ß-HSD type II deficiency genotype-proven detected at the Newborn Screening Program in Brazil. The case described herein corroborates the strong genotype-phenotype correlation associated with the HSD3B2 p.P222Q mutation, which leads to a classic salt-wasting 3ß-HSD deficiency. Further evaluation of 17OHP assays used in newborn screening tests would aid in determining their reproducibility, as well as the potential significance of moderately elevated 17OHP levels as an early indicator to the diagnosis of other forms of classic CAH, beyond 21-hydroxylase deficiency.

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3b-hydroxysteroid dehydrogenase II (3β-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) are characteristic, but extra-adrenal conversion to 17-hydroxyprogesterone (17OHP) may lead to positive results on newborn screening tests. Filter paper 17OHP on newborn screening test was performed by immunofluorometric assay, and serum determinations of 17OHP and Δ517OHP, by radioimmunoassay. A 46,XY infant with genital ambiguity and adrenal crisis at three months of age presented a positive result on newborn screening for CAH. Serum determinations of 17OHP and Δ517OHP were elevated, and a high Δ517OHP/cortisol relation was compatible with the diagnosis of 3β-HSD deficiency. Molecular analysis of the HSD3B2 gene from the affected case revealed the presence of the homozygous p.P222Q mutation, whereas his parents were heterozygous for it. We present the first report of 3β-HSD type II deficiency genotype-proven detected at the Newborn Screening Program in Brazil. The case described herein corroborates the strong genotype-phenotype correlation associated with the HSD3B2 p.P222Q mutation, which leads to a classic salt-wasting 3β-HSD deficiency. Further evaluation of 17OHP assays used in newborn screening tests would aid in determining their reproducibility, as well as the potential significance of moderately elevated 17OHP levels as an early indicator to the diagnosis of other forms of classic CAH, beyond 21-hydroxylase deficiency.

A deficiência da enzima 3β-hidroxiesteroide desidrogenase tipo 2 (3β-HSD) representa variante rara de hiperplasia adrenal congenital (HAC). Recém-nascidos afetados com a forma clássica apresentam perda de sal nas primeiras semanas de vida e ambiguidade genital em ambos os sexos. Concentrações elevadas de 17-hidroxipregnenolona (Δ517OHP) são características, porém sua conversão extra-adrenal a 17-hidroxiprogesterona (17OHP) pode resultar em resultados positivos no teste de triagem neonatal. A determinação da concentração de 17OHP obtida em amostra de sangue colhida em papel-filtro para triagem neonatal foi realizada por ensaio imunofluorimétrico, e as concentrações séricas de 17OHP and Δ517OHP, por radioimunoensaio. Um menino, 46,XY, com ambiguidade genital e crise adrenal aos 3 meses de vida, apresentou teste positivo na triagem neonatal para HAC. As concentrações séricas de 17OHP e Δ517OHP estavam aumentadas, bem como a relação Δ517OHP/cortisol, o que foi compatível com o diagnóstico de deficiência de 3β-HSD. A análise molecular do gene HSD3B2 revelou a mutação p.P222Q em homozigose na criança afetada e em heterozigose em seus pais, o que confirmou a deficiência de 3β-HSD com resultado moderadamente elevado na dosagem de 17OHP no “Teste do Pezinho” (Programa de Triagem Neonatal do Distrito Federal, Brasil). Esse caso corrobora a forte correlação genótipo-fenótipo associada à mutação p.P222Q no gene HSD3B2. Estudos futuros para avaliação dos ensaios utilizados na triagem neonatal para determinação de 17OHP poderão auxiliar na determinação do significado potencial de concentrações moderadamente elevadas de 17OHP como um indicador precoce para o diagnóstico de outras formas de HAC clássicas, além da deficiência de 21-hidroxilase.

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BACKGROUND: The new epidemiological scenario of orally transmitted Chagas disease that has emerged in Brazil, and mainly in the Amazon region, needs to be addressed with a new and systematic focus. Belém, the capital of Pará state, reports the highest number of acute Chagas disease (ACD) cases associated with the consumption of açaí juice. METHODOLOGY/PRINCIPAL FINDINGS: The wild and domestic enzootic transmission cycles of Trypanosoma cruzi were evaluated in the two locations (Jurunas and Val-de Cães) that report the majority of the autochthonous cases of ACD in Belém city. Moreover, we evaluated the enzootic cycle on the three islands that provide most of the açaí fruit that is consumed in these localities. We employed parasitological and serological tests throughout to evaluate infectivity competence and exposure to T. cruzi. In Val-de-Cães, no wild mammal presented positive parasitological tests, and 56% seroprevalence was observed, with low serological titers. Three of 14 triatomines were found to be infected (TcI). This unexpected epidemiological picture does not explain the high number of autochthonous ACD cases. In Jurunas, the cases of ACD could not be autochthonous because of the absence of any enzootic cycle of T. cruzi. In contrast, in the 3 island areas from which the açaí fruit originates, 66.7% of wild mammals and two dogs displayed positive hemocultures, and 15.6% of triatomines were found to be infected by T. cruzi. Genotyping by mini-exon gene and PCR-RFLP (1f8/Akw21I) targeting revealed that the mammals and triatomines from the islands harbored TcI and Trypanosoma rangeli in single and mixed infections. CONCLUSION/SIGNIFICANCE: These findings show that cases of Chagas disease in the urban area of Belém may be derived from infected triatomines coming together with the açaí fruits from distant islands. We term this new epidemiological feature of Chagas disease as "Distantiae transmission".

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