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Indigenous people are considered more vulnerable to new infectious agents. In view of the novel coronavirus causing COVID-19, health authorities are concerned about the possible impact of the pandemic on reaching vulnerable populations, such as the indigenous people of the Brazilian Amazon. Thus, we aimed to carry out an epidemiological analysis of serious cases and deaths from COVID-19 in indigenous population in the state of Pará, Brazil. The data was obtained from the public Ministry of Health platform. Data analysis was performed using the Statistical Package for the Social Sciences 20, Chi-square of adherence, the independence test and G test. For spatial distribution was used ArcGIS. We observed 123 COVID-19 cases: 46 deaths (37.40%), male gender (76-61.79%), age above 60 years (61- 49.6%), the most frequent risk factor was chronic cardiovascular disease (18- 14.63%). The predictors of death were: invasive ventilation has (6.8) more chances for the outcome death, those not vaccinated against influenza have (3.5) and age (1.4). COVID-19 occurrence was higher in municipalities that have villages with health care or commerce, or with migrants from the Warao ethnic group. Notifications should take into consideration the specific issues of indigenous people so that effective control measures can be defined.

Objective: to describe, based on a literature review, the strategies used to assess the contacts of tuberculosis patients. Methodology: This is an exploratory and qualitative study, based on an Integrative Literature Review (RIL), composed of 6 stages. Applying the appropriate filters, resulted in 540 articles, in which 14 were selected using the exclusion criteria properly, in which materials that portrayed and explored the evaluation of tuberculosis contacts, latent tuberculosis, as well as the challenges in implementation were prioritized. of actions for this disease. Results: categorized into the following topics: Knowledge of contacts about what the disease is, care and transmission; The importance of contact tracing and Role of health professionals on tuberculosis transmission. Conclusion: the importance of evaluating tuberculosis contacts with the objective of controlling the disease was highlighted. In this way, it is important to emphasize that the health professional has a huge responsibility towards this public, and to the community in general, and it is necessary to always be seeking new knowledge in order to improve their health practices and ensure that their professional attitudes towards contacts make it possible to optimize identification and investigation of TB contacts.

Objective: To present a script script to use the RStudio software for decomposition of time series in epidemiological studies using the R language. Materials and methods: The data used in this study to demonstrate the applicability of the R environment in the analysis and decomposition of time series were extracted from DATASUS, and composed of data on mortality from infectious diseases in Brazil and in the North Region, considering deaths by residence, from 1996 to 2019. The data were analyzed using the R language through the RStudio software Version 2022.02.1 . Results: Time series were analyzed using the R language and decomposed into their trend, seasonality and noise components. The seasonality graphs were isolated to understand the variation in the behavior of mortality from infectious diseases in the North Region when compared to data from Brazil distributed in the months of the year. Conclusion: Using RStudio, it was possible to analyze and decompose a large volume of data to build a 25-year time series, subdivided into monthly periods. Allowing the customization of graphic elements and their plotting.

Introduction: Tuberculosis control tools are a challenge to primary health care, due to the delay of people from the appearance of the first symptoms to the search for the first health-care service, and health-care services leading to difficulties and delay in establishing the diagnosis and initiation of treatment. Objective: to analyze the factors associated with the time from the identification of symptoms to the beginning of treatment for pulmonary tuberculosis and to measure the related time. Materials and Method: Quantitative, cross-sectional and analytical study, with 101 patients being treated for pulmonary tuberculosis, in five Basic Health Units. They were interviewed using an adapted and validated questionnaire. Data were analyzed using the G Test, in the BioEstat 5.3 Program. Results: 53.27% of patients were late to seek health-care services. The diagnosis was classified as “no delay” (50.5%). Male sex, complete high school education are factors related to delay in the diagnosis of tuberculosis, as well as the frequency of seeking health-care services for diagnosis showed statistical significance (p=0.0264). Discussion: Men are the most affected by the disease, due to risk factors. There is a need to invest in the training of teams to carry out early diagnosis and rapid suspicion of the disease. Conclusion: There are important actors in disease control: the health-care service and the patient. The delay is related to the tuberculosis patient, with the need to speed up the diagnosis of the disease, so that the patient does not have to return to the service several times.

Objective: To present an experience report regarding the administration of the neonatal screening referral service in Pará. Based on the implementation of the National Neonatal Screening Program through Ordinance nº 822, of June 6, 2001. Method: This is a descriptive study, with a qualitative approach, of the experience report type, experienced by four nurses who work at the Reference Service in Neonatal Screening at the University of the State of Pará, through systematic, structured or controlled observation. Results: An approach to the work process was carried out based on forwarding through postage to the Research and Diagnostic Support Laboratory responsible for the development of the following steps: 1) sample screening, which is a process of evaluating the quality of the material collected; 2) entering the child's information in the VEGA triage system and 3) processing the biological samples to obtain the results. These procedures are in accordance with the provisions of the Neonatal Screening Technical Manual. Conclusion: In this process, the importance of the multidisciplinary team, especially the nurse, is highlighted in the search for empowerment on the importance of neonatal screening for the early diagnosis of metabolic diseases and the prevention of irreversible sequelae, complications and deaths.

BackgroundSingleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described and the genotypic and phenotypic spectrum is poorly defined, with variants in DDX58 (DExD/H-box helicase 58) being one of two identified causes, classified as SGMRT2.MethodsFamilies underwent deep systemic phenotyping and exome sequencing. Functional characterisation with in vitro luciferase assays and in vivo interferon signature using bulk and single cell RNA sequencing was performed.ResultsWe have identified a novel DDX58 variant c.1529A>T p.(Glu510Val) that segregates with disease in two families with SGMRT2. Patients in these families have widely variable phenotypic features and different ethnic background, with some being severely affected by systemic features and others solely with glaucoma. JOAG was present in all individuals affected with the syndrome. Furthermore, detailed evaluation of skin rash in one patient revealed sparse inflammatory infiltrates in a unique distribution. Functional analysis showed that the DDX58 variant is a dominant gain-of-function activator of interferon pathways in the absence of exogenous RNA ligands. Single cell RNA sequencing of patient lesional skin revealed a cellular activation of interferon-stimulated gene expression in keratinocytes and fibroblasts but not in neighbouring healthy skin.ConclusionsThese results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and dermatological phenotypes, expand our understanding of the molecular pathogenesis of this condition and provide a platform for testing response to therapy.

Os atributos quimicos sao indicadores para avaliar a qualidade do solo e servem tambem para indicar a capacidade do solo de sustentar as diversas atividades que dependem diretamente desse recurso natural, como a agricultura, por exemplo. O Sistema Plantio Direto (SPD) e um sistema de manejo, de carater conservacionista do solo, capaz de recuperar a qualidade de solos degradados, sujeito as condicoes de manejo e gestao do sistema. Ele e capaz de melhorar consideravelmente os teores dos atributos quimicos nos solos, como os macros e micronutrientes, onde esta implantado e consequentemente melhora os padroes de produtividade aliado a sustentabilidade e a funcao social da terra de diminuir o exodo rural diante das melhores condicoes de producao e vida no campo. Neste trabalho objetivou-se analisar as propriedades quimicas de um Latossolo Amarelo no bioma Amazonia, submetidos a diferentes manejos: Sistema Plantio Direto com Integracao Lavoura-Pecuaria e Sistema Plantio Direto, sob diferentes anos de adocao do sistema (4, 6, 10, 12 e 14 anos), e de uma area de Reserva Legal de floresta renascente (Mata nativa) como padrao natural dos teores dos atributos quimicos, em duas propriedades rurais situadas no municipio de Paragominas-PA. Os metodos utilizados para realizacao deste trabalho consistiram na coleta das amostras de solos para avaliacao da fertilidade, observando os teores dos macronutrientes como N, P, K, Na, Al, Ca+Mg, H+Al, e do pH, Saturacao de bases, Saturacao de Aluminio, CTC total e efetiva. Os dados passaram por analise estatistica com uso do teste Scott-Knott (p>0,05), e os resultados mostraram que os atributos quimicos do solo se apresentaram como importantes indicadores da sustentabilidade ambiental, atraves da avaliacao da fertilidade do solo, e mostraram-se capazes de fornecer informacoes ao longo dos anos de adocao do SPD, dos impactos das atividades de manejo e direcionar respostas aos problemas relacionados a qualidade do solo.

Objective: Report of a clinical case of Hypoparathyroidism (HPP) treated at the Dental Clinic of the Specialization of Patients with Special Needs (PNE) of the Federal University of Pará (UFPA). Methods: Information was obtained through reports provided by the mother, clinical evaluation with the patient, oral photographic records, Cone Beam Computed Tomography (CBCT), X-Ray and Skull Tomography, Carpal Rx, Pelvic Rx, blood tests, ultrasound of the kidneys, evaluation with an ophthalmologist. Hypoparathyroidism is a disease that occurs when the PTH (parathyroid hormone) hormone that is produced by the parathyroid glands does not work or is no longer produced. Conclusion: The result of the lack of this hormone is a drop in blood calcium levels, and an increase in alkaline phosphatase causing various symptoms. Acquired (something that develops in childhood or adulthood). The cause can be acquired, transient, congenital, inherited or pseudohypoparathyroidism.

A expressão do potencial produtivo do feijão-caupi depende da combinação de diversos fatores, incluindo o sistema de produção utilizado, condições de clima e solo da área de cultivo e práticas como o número de plantas por área e espaçamento entre linhas de plantio. Neste contexto, o objetivo foi avaliar a produtividade do feijão-caupi cv BRS Guariba em diferentes populações de plantas e espaçamentos sob condições edafoclimáticas do sudeste paraense, Amazônia brasileira. Para isso, utilizou-se delineamento experimental em blocos casualizados, em fatorial 2 x 5, com quatro repetições. Os tratamentos consistiram em dois espaçamentos: 0,4 e 0,5 m; e cinco populações de plantas por hectare: 160.000, 220.000, 280.000, 340.000, 400.000 plantas ha-1. Foram avaliados o número de vagem por planta, número de grãos por vagem, comprimento de vagem (cm), produtividade de grãos (kg ha-1) e peso de 100 grãos (g). A menor população de plantas (160.000 plantas ha-1) utilizada promoveu o maior número médio de vagem por planta em ambos os espaçamentos. O comprimento médio da vagem foi de 21,2 cm, o qual não foi influenciado por nenhum dos fatores estudados. O número de grãos por vagem foi superior em espaçamento de 0,5 m (11,8) em relação a 0,4 m (11,3). No entanto, somente houve diferença no número de grãos por vagem entre as populações dentro do menor espaçamento de plantio, com destaque para as maiores populações (400.000, 340.000 e 280.000 plantas ha-1). A produtividade de grãos variou de 524,7 a 995,1 kg ha-1, com produtividades superiores correspondendo às populações de 400.000, 340.000 e 280.000 plantas ha-1, independentemente do espaçamento utilizado. Por outro lado, o peso dos grãos foi pouco alterado em função dos tratamentos.

Introducao: O Deficit Intelectual (DI) e o Atraso no Desenvolvimento Neuropsicomotor (ADNPM) sao motivos comuns de atendimentos

Introducao: A Osteocondromatose Multipla Hereditaria (OMH) ou Exostose Multipla e uma doenca autossomica dominante rara (1:50.000) e sua manifestacao

Indigenous people are considered more vulnerable to new infectious agents. In view of the novel coronavirus causing COVID-19, health authorities are concerned about the possible impact of the pandemic on reaching vulnerable populations, such as the indigenous people of the Brazilian Amazon. Thus, we aimed to carry out an epidemiological analysis of serious cases and deaths from COVID-19 in indigenous population in the state of Pará, Brazil. The data was obtained from the public Ministry of Health platform. Data analysis was performed using the Statistical Package for the Social Sciences 20, Chi-square of adherence, the independence test and G test. For spatial distribution was used ArcGIS. We observed 123 COVID-19 cases: 46 deaths (37.40%), male gender (76-61.79%), age above 60 years (61-49.6%), the most frequent risk factor was chronic cardiovascular disease (18-14.63%). The predictors of death were: invasive ventilation has (10.73) more chances for the outcome death, those not vaccinated against influenza have (3.41) and age (1.4). COVID-19 occurrence was higher in municipalities that have villages with health care or commerce, or with migrants from the Warao ethnic group. Notifications should take into consideration the specific issues of indigenous people so that effective control measures can be defined.

Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

Background Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients. In this context, we explored a pan-cancer panel in the investigation of germline variants in Brazilian patients presenting clinical criteria for hereditary cancer syndromes or familial history. Methods Seventy-one individuals diagnosed or with familial history of hereditary cancer syndromes were submitted to custom pan-cancer panel including 16 high and moderate penetrance genes previously associated with hereditary cancer syndromes (APC, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MSH2, MSH6, MUTYH, PTEN, RB1, RET, TP53, VHL, XPA and XPC). All pathogenic variants were validated by Sanger sequencing. Results We identified a total of eight pathogenic variants among 12 of 71 individuals (16.9%). Among the mutation-positive subjects, 50% were diagnosed with breast cancer and had mutations in BRCA1, CDH1 and MUTYH. Notably, 33.3% were individuals diagnosed with polyposis or who had family cases and harbored pathogenic mutations in APC and MUTYH. The remaining individuals (16.7%) were gastric cancer patients with pathogenic variants in CDH1 and MSH2. Overall, 54 (76.05%) individuals presented at least one variant uncertain significance (VUS), totalizing 81 VUS. Of these, seven were predicted to have disease-causing potential. Conclusion Overall, analysis of all these genes in NGS-panel allowed the identification not only of pathogenic variants related to hereditary cancer syndromes but also of some VUS that need further clinical and molecular investigations. The results obtained in this study had a significant impact on patients and their relatives since it allowed genetic counselling and personalized management decisions.

Additional file 1: Supplementary Table S1 Primers used for validation of pathogenic variants reported in the pan-cancer panel.

Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects. RESUMO Educação em genética é fundamental para o entendimento dos aspectos biológicos do binômio saúde-doença. Além disso, com a mudança do perfil epidemiológico, as doenças com determinantes genéticos tornaram-se mais relevantes como problema de saúde pública. Assim, manejar estas doenças, tanto em pacientes como em suas famílias, de forma ética, diligente e considerando a lógica e as políticas do Sistema Único de Saúde (SUS), passa a ser competência desejável para todos os médicos, impactando sua formação na graduação. Entendendo esta questão como absolutamente relevante, a Sociedade Brasileira de Genética Médica e Genômica (SBGM) definiu as competências desejáveis em genética para os médicos do Brasil, articuladas às políticas públicas relacionadas à área existentes no País. Este artigo é um ensaio teórico que objetiva contextualizar e apresentar o perfil de competência em genética para médicos proposto pela SBGM. O perfil de competência, apresentado e discutido neste ensaio, foi estruturado com base em quatro competências essenciais: (a) reconhecer a necessidade de educação continuada, examinando regularmente a sua própria competência clínica; (b) identificar indivíduos que apresentem ou possam desenvolver uma doença genética e saber como e quando encaminhá-los para aconselhamento genético; (c) manejar pacientes com doenças genéticas e/ou defeitos congênitos no âmbito da sua atuação profissional; (d) promover e estimular práticas clínicas e de educação em saúde, objetivando a prevenção de doenças genéticas e defeitos congênitos. Conhecimentos, habilidades e atitudes necessários para alcançar essas quatro competências foram elencados. Dessa forma, é apresentado um referencial teórico, baseado em competências, para apoiar o ensino da genética durante a graduação em Medicina. Defende-se a adoção deste perfil de competência mínimo em genética em todas as escolas médicas brasileiras com a finalidade de formar um médico mais adequado às atuais demandas do SUS. Adicionalmente, esse perfil de competência pode subsidiar ações de educação profissional permanente na área da genética, de forma a capacitar o recurso humano do SUS em relação às doenças genéticas e aos defeitos congênitos.

Objetivou-se com este trabalho avaliar a resistencia de cultivares de soja a Euschitus heros, Nezara viridula e Spodoptera cosmioides em Paragominas, Estado do Para, nas safras 2014 e 2015. As cultivares plantadas foram: BRS Perola, BRS Sambaiba, P98C81, ANsc 89109RR (convencionais), BRS 9090RR, Urucui, Campo Novo, M-8766RR, M-8867RR, M-9056RR, M-9144RR, P98Y51, P98Y52, P99R03, Syn 1183RR, Syn 1285RR, TMG 1288RR (tecnologia Roundup Ready - RR), M-8210 IPRO, M-8644 IPRO e Syn 13870 IPRO (tecnologia Intacta RR2 Pro), TMG 132 e BG 4290. Essas cultivares foram dispostas em blocos casualizados com quatro repeticoes em parcelas subdivididas, sendo as amostragens das pragas iniciadas aos sete dias apos o plantio com pano de batida, totalizando 13 amostragens no primeiro ano e 11 no segundo ano. Afim de determinar a presenca de ninfas e adultos de E. heros e N. viridula, somatorio total de percevejos, numero de lagartas pequenas e grandes e somatorio total de lagartas de S. cosmioides, assim como a flutuacao dessas pragas ao longo do desenvolvimento da cultura da soja. Os dados coletados foram submetidos a um teste de normalidade dos dados, transformados, posteriormente submetidos a uma analise de variância atraves do teste F (Fischer) e as medias, quando diferiram significativamente foram comparadas pelo teste de Tukey a 5% de probabilidade. As baixas infestacoes naturais de E. heros, N.viridula e S. cosmioides encontradas nesse estudo, nao permitiu observar diferencas significativas entre os cultivares de soja, constatando diferencas somente entre os periodos de avaliacao. Dos percevejos coletados nos dois anos, 77% pertencia a especie E. heros e o pico populacional de percevejos nas safras 2014/2015 e 2015/2016 foi observado aos 84 e 56 DAE respectivamente. Enquanto que para S. cosmioides, maiores densidades populacionais ocorreram aos 56 DAE. Niveis de dano economico causados por percevejos para campos de producao de sementes, foram atingidos aos 77 e 84 DAE no primeiro ano e aos 56 DAE do ano seguinte.

Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives' data from consecutive families with genetic or pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated. In 370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood-onset subtype, representing 21% of families. Five percent of families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related patients with truncating variants had earlier disease onset and more severe progression to handicap than patients without truncating variants. We have provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field.