Impacto do rastreamento clínico e genético para neoplasia endócrina múltipla tipo 1

PURPOSE: To perform clinical and genetic screening for multiple endocrine neoplasia type 1 (MEN1) in patients at the Academic Hospital of the University of São Paulo School of Medicine, and to analyze its impact on clinical management of patients with MEN1. METHODS: The clinical diagnosis of MEN1 was made in accordance with the Consensus on multiple endocrine neoplasias. Mutation analysis of the entire MEN1 tumor suppressor gene and genetic screening of at-risk family members were performed by direct sequencing. To analyze the implementation of genetic diagnosis, the studied patients were separated into 3 groups: MEN1 index cases (group I), clinically diagnosed MEN1 cases (group II), and genetically diagnosed MEN1 cases (group III). RESULTS: In total, 154 individuals were clinically and genetically studied. We identified 12 different MEN1 mutations. Fifty-two MEN1 cases were identified: 13 in group I, 28 in group II, and 11 in group III. The mean age in group III (27.0 years) was significantly lower than in groups I (39.5 years) and II (42.4 years; P = 0.03 and P = 0.01, respectively). Patients in groups I and II mostly presented 2 or 3 MEN1-related tumors, while 81.8% of those in group III presented 1 or no MEN1-related tumor. Additionally, in group III, 45.4% of cases were asymptomatic, and no metastasis or death was verified. Surveillance for MEN1 mutations allowed the exclusion of 102 noncarriers, including a case of MEN1 phenocopy. CONCLUSION: Our data supports the benefits of clinical and genetic screening for multiple endocrine neoplasia type 1 in the management of this syndrome.OBJETIVOS: Realizar rastreamentos clínico e gênico para Neoplasia Endócrina Múltipla tipo 1 (NEM1) e analisar seu impacto no seguimento clínico desses pacientes no Hospital das Clínicas, SP. MÉTODOS: O diagnóstico clínico de NEM1 foi realizado de acordo com o Consenso sobre neoplasias endócrinas múltiplas. A análise genética para identificação de mutações foi realizada por sequenciamento automático de todas as regiões codificadoras e fronteiras exon/intron do gene MEN1. Os casos afetados foram sub-divididos em 3 grupos e analisados separadamente: casos-índices (grupo I), familiares diagnosticados clinicamente (grupo II) e genicamente (grupo III). RESULTADOS: Um total de 154 casos participou desse estudo, sendo 52 diagnosticados com NEM1: 13 do grupo I, 28 do grupo II e 11 do grupo III. A idade média ao diagnóstico no grupo III (27 anos) foi significativamente menor que a dos grupos I (39,5 anos; p = 0,03) e II (42,4 anos; p = 0,01). A maioria dos pacientes dos grupos I e II apresentou 2 ou 3 tumores, enquanto que 81,8% dos casos do grupo III apresentavam 1 ou nenhum tumor relacionado à NEM1. Além disto, 45,4% dos casos do grupo III eram assintomáticos, não sendo observados nenhuma metástase ou óbito. Os demais 102 familiares sob-risco estudados não herdaram mutação MEN1 e foram excluídos do rastreamento clínico. Um caso de fenocópia NEM1 foi também localizado. DISCUSSÃO: Nossos dados demonstraram importantes benefícios no seguimento dos pacientes NEM1, obtidos pela implementação dos rastreamentos clínico e gênico para essa doença

Nutritional physical examination: historical, methodological and applied approach

The historical interest in the use of physical evaluation skills in clinical settings gained new notoriety at the end of the 20th century with evidence that patients in intensive care units experienced increased morbidity and mortality related to poor nutritional status before and/or during their admission. This awareness of the adverse effects of malnutrition led to the need for screening and evaluation tools to identify nutritional risk. no clinical finding of EFN should be considered a diagnosis per se. It is academic, scientific and clinical consensus that its results should be interpreted as suggestive, being crucial to consider the other methods of clinical evaluation of the patient\u27s nutritional status for the correct global nutritional diagnosis. However, the systematic and periodic repetition of the test may help to follow the evolution of the individual\u27s nutritional status, especially in the long term. In summary, although it requires specialized training and continuous practice of the evaluator and/or the team – in addition to requiring complementary nutritional information – the physical nutritional examination can still be considered an effective adjuvant method in the clinical evaluation of the patient’s nutritional status

Anti-inflammatory foods: human food patterns, bioactive principles and mechanisms of action

With the increase in life expectancy accompanied by the gradual decrease in the birth rate as well as the greater income distribution associated with the quantitative increase in the minimum wage above inflation and the increase in its purchasing power, today the Brazilian population shows a moment exactly opposite to that found in the last century both in epidemiological terms and in the nutritional pattern. Brazil is currently experiencing the same pattern of mortality as developed countries: the majority of chronic non-communicable diseases are the main cause of death associated with an established model of obesity and sedentarism. These factors incline the scientific community and health professionals to turn their efforts to find food solutions that ease this epidemiological picture and it is in this context that anti-inflammatory foods have gained prominence. The following describes the main compounds that fit this magnitude of effect and their mechanisms of action

Endocannabinoid system: conceptual parameters, history and therapeutic possibilities

Among the drugs considered illicit in the West, the Cannabis sativa plant is the most consumed: around 4% of the adult population, 10% of these users are in a situation of dependence. However, the medicinal use of this herb dates back to the early days of the emergence of our own species: some anthropologists theorize that some of the genus Homo has progressed in the struggle for survival with other hominids precisely because of the advanced knowledge – kept to the proper proportions – it possessed of plants like Cannabis. Millennia later, science – even focusing intensely on the chemical characterization of its more than 530 bioactive components – was still not able to generate verifiable hypotheses in order to explain two of the most remarkable characteristics of the recreational use of this plant: because small chemical changes potentiated the effect of the drug up to 100 times and, mainly, because it would be virtually impossible for an individual to suffer a lethal overdose of the substance. To overcome this paradigm, some compounds derived from delta-ninetetrahydrocannabinol (Δ9-THC) - the main component of cannabis – were radioactively marked in an experimental study and, after their induction, it was discovered that they had tropism by brain membranes and that their binding was saturated and stereosleptic. Such evidence strongly suggested the existence of endogenous receptors for the drug and it was these findings that led to the discovery of the Endocanabinoid System (SEC): a physiological apparatus made up of endogenous receptors and binders, philogenetically conserved, responsible for several controls related to neuronal homeostasis

The impact of clinical and genetic screenings on the management of the multiple endocrine neoplasia type 1

PURPOSE: To perform clinical and genetic screening for multiple endocrine neoplasia type 1 (MEN1) in patients at the Academic Hospital of the University of São Paulo School of Medicine, and to analyze its impact on clinical management of patients with MEN1. METHODS: The clinical diagnosis of MEN1 was made in accordance with the Consensus on multiple endocrine neoplasias. Mutation analysis of the entire MEN1 tumor suppressor gene and genetic screening of at-risk family members were performed by direct sequencing. To analyze the implementation of genetic diagnosis, the studied patients were separated into 3 groups: MEN1 index cases (group I), clinically diagnosed MEN1 cases (group II), and genetically diagnosed MEN1 cases (group III). RESULTS: In total, 154 individuals were clinically and genetically studied. We identified 12 different MEN1 mutations. Fifty-two MEN1 cases were identified: 13 in group I, 28 in group II, and 11 in group III. The mean age in group III (27.0 years) was significantly lower than in groups I (39.5 years) and II (42.4 years; P = 0.03 and P = 0.01, respectively). Patients in groups I and II mostly presented 2 or 3 MEN1-related tumors, while 81.8% of those in group III presented 1 or no MEN1-related tumor. Additionally, in group III, 45.4% of cases were asymptomatic, and no metastasis or death was verified. Surveillance for MEN1 mutations allowed the exclusion of 102 noncarriers, including a case of MEN1 phenocopy. CONCLUSION: Our data supports the benefits of clinical and genetic screening for multiple endocrine neoplasia type 1 in the management of this syndrome.OBJETIVOS: Realizar rastreamentos clínico e gênico para Neoplasia Endócrina Múltipla tipo 1 (NEM1) e analisar seu impacto no seguimento clínico desses pacientes no Hospital das Clínicas, SP. MÉTODOS: O diagnóstico clínico de NEM1 foi realizado de acordo com o Consenso sobre neoplasias endócrinas múltiplas. A análise genética para identificação de mutações foi realizada por sequenciamento automático de todas as regiões codificadoras e fronteiras exon/intron do gene MEN1. Os casos afetados foram sub-divididos em 3 grupos e analisados separadamente: casos-índices (grupo I), familiares diagnosticados clinicamente (grupo II) e genicamente (grupo III). RESULTADOS: Um total de 154 casos participou desse estudo, sendo 52 diagnosticados com NEM1: 13 do grupo I, 28 do grupo II e 11 do grupo III. A idade média ao diagnóstico no grupo III (27 anos) foi significativamente menor que a dos grupos I (39,5 anos; p = 0,03) e II (42,4 anos; p = 0,01). A maioria dos pacientes dos grupos I e II apresentou 2 ou 3 tumores, enquanto que 81,8% dos casos do grupo III apresentavam 1 ou nenhum tumor relacionado à NEM1. Além disto, 45,4% dos casos do grupo III eram assintomáticos, não sendo observados nenhuma metástase ou óbito. Os demais 102 familiares sob-risco estudados não herdaram mutação MEN1 e foram excluídos do rastreamento clínico. Um caso de fenocópia NEM1 foi também localizado. DISCUSSÃO: Nossos dados demonstraram importantes benefícios no seguimento dos pacientes NEM1, obtidos pela implementação dos rastreamentos clínico e gênico para essa doença

Recomendações técnicas para atualização das boas práticas de fabricação de alimentos (BPF) visando a prevenção da COVID-19 em serviços de alimentação: checklist e revisão de manuais BPF

The COVID-19 pandemic caused by the SARS-CoV-2 virus brought additional challenges to the Food and Nutrition Service, so in addition to meeting the hygienic-sanitary conditions of food, companies now need to incorporate new manufacturing practices. foods that aim to preserve the health of workers as well as consumers. In this context, this study aimed to carry out a literature review on technical recommendations for good food manufacturing practices related to the prevention of COVID-19 and prepare a checklist to facilitate the identification of failures, assess risk COVID-19 transmission in food services and guide how to adapt the good manufacturing practices manuals. Based on technical notes (NT) 47, 48 and 49 of 2020 that were edited by ANVISA, based on the standards of the World Health Organization (WHO), a questionnaire was created containing 100 questions in the various categories of the food production sector, such as physical structure/building, hand washing conditions, general worker protection measures, material storage area, personal hygiene conditions, food storage area, company personnel, customer service area, preparation area, portioning and distribution area, food consumption area for workers, area for reception and food services received and food delivery services. In this way, we understand that biosafety measures must be adopted from the update of the manuals of good manufacturing practices in food services, and, to support this action, we propose the use of the checklist in the appendix to identify non-conformities related to the prevention of COVID -19.A pandemia da COVID-19 causada pelo vírus SARS-CoV-2 trouxe desafios adicionais ao Serviço de Alimentação e Nutrição (SAN), pois, além de atender as condições higiênicas sanitárias dos alimentos, as empresas agora precisam incorporar novas práticas que visem preservar a saúde das pessoas. Nesse contexto, esse estudo buscou realizar uma revisão da literatura sobre as recomendações técnicas de boas práticas de fabricação de alimentos relacionadas com a prevenção da COVID-19 e elaborar uma lista de verificações (check-list) para facilitar a identificação de falhas, avaliar risco de transmissão da COVID-19 nos serviços de alimentação e orientar as adaptações dos manuais de boas práticas de fabricação. Com base nas notas técnicas vigentes no Brasil e baseadas nas diretrizes da Organização Mundial de Saúde (OMS), foi elaborado um questionário contendo 100 perguntas nas diversas categorias do setor de produção de alimentos. Dessa maneira, entendemos que medidas de biossegurança devem ser adotadas a partir da atualização dos manuais de boas práticas de fabricação nos serviços de alimentação, e, para apoiar essa ação, propomos a utilização do checklist em apêndice para identificar as inconformidades relacionadas a prevenção da COVID-19

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Assessment of risk scores to predict mortality of COVID-19 patients admitted to the intensive care unit

ObjectivesTo assess the ABC2-SPH score in predicting COVID-19 in-hospital mortality, during intensive care unit (ICU) admission, and to compare its performance with other scores (SOFA, SAPS-3, NEWS2, 4C Mortality Score, SOARS, CURB-65, modified CHA2DS2-VASc, and a novel severity score).Materials and methodsConsecutive patients (≥ 18 years) with laboratory-confirmed COVID-19 admitted to ICUs of 25 hospitals, located in 17 Brazilian cities, from October 2020 to March 2022, were included. Overall performance of the scores was evaluated using the Brier score. ABC2-SPH was used as the reference score, and comparisons between ABC2-SPH and the other scores were performed by using the Bonferroni method of correction. The primary outcome was in-hospital mortality.ResultsABC2-SPH had an area under the curve of 0.716 (95% CI 0.693–0.738), significantly higher than CURB-65, SOFA, NEWS2, SOARS, and modified CHA2DS2-VASc scores. There was no statistically significant difference between ABC2-SPH and SAPS-3, 4C Mortality Score, and the novel severity score.ConclusionABC2-SPH was superior to other risk scores, but it still did not demonstrate an excellent predictive ability for mortality in critically ill COVID-19 patients. Our results indicate the need to develop a new score, for this subset of patients

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost