Torsade de Pointes due to Methadone Use in a Patient with HIV and Hepatitis C Coinfection

We present a case of Torsade de Pointes secondary to multiple factors including patient susceptibility and iatrogenic influences. Contributing causes are presented, and the approach to treatment is discussed

Opções Reais como ferramenta de inovação para os Trabalhos de Auditoria Interna de TI / Real Options as an Innovation tool for Internal IT Audit Works

O estudo propõe uma abordagem direcionada à Teoria das Opções Reais aplicada em trabalhos de Auditoria Interna de TI de uma instituição financeira, visando resolver o problema de como melhorar a rentabilidade dos trabalhos de auditoria de TI. Este estudo é classificado como pesquisa aplicada, enquadrada como do tipo exploratória, com abordagem qualitativa, utilizando a Teoria do Enfoque Meta Analítico Consolidado para emoldurar artigos relevantes relacionados ao tema. O objetivo do estudo é analisar a aplicabilidade da Teoria das Opções Reais na Auditoria Interna de TI, com intuito de otimizar ganhos operacionais. O resultado do artigo demonstra o cenário estudado; a modelagem da aplicação da teoria das opções reais e um modelo sintetizado para aplicação da TOR em trabalhos de auditoria interna de TI. A proposta de modelo foi validada com os especialistas que atuam na auditoria, com intuito de coletar os feedbacks para o seu aperfeiçoamento. Por fim, foram propostas ações a serem implementadas, como a aplicação do modelo em demais projetos da instituição financeira. Pretende-se que os resultados sejam úteis para adequação e atualização da gestão de trabalhos de auditoria nas organizações

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Transtornos psiquiátricos prevalentes na infância: lidando com desafios comportamentais.

Objective: This study aims to synthesize the evidence on psychiatric disorders in childhood, identifying intervention strategies. The aim is to offer a comprehensive view to guide clinical practices and promote understanding of these conditions. Methodology: The careful selection of the integrative review through critical reading and comprehensive analysis of articles aims to synthesize evidence on psychiatric disorders in childhood and intervention strategies, contributing to a practical understanding of these conditions, through the health descriptors: “Psychiatric Disorders”, “Behavioral Disorders”, “Child Psychiatry”. Results: The comparative analysis of psychiatric disorders in childhood reveals patterns and differences in therapeutic approaches, covering conditions such as ADHD, ASD, GAD and OCD. The coexistence of multiple disorders amplifies the complexity of treatment, requiring an integrated approach. Practitioners face the challenge of personalizing interventions, emphasizing the need for collaboration and adaptation in the holistic management of conditions. Conclusion: In conclusion, understanding the therapeutic nuances and challenges associated with co-existing childhood psychiatric disorders highlights the importance of personalized approaches and interdisciplinary collaboration to optimize treatment and improve children's well-being. The flexibility and adaptability of professionals are fundamental to face the complexity of these conditions.Objetivo: Este estudo visa sintetizar as evidências sobre transtornos psiquiátricos na infância, identificando estratégias de intervenção. Busca-se oferecer uma visão abrangente para orientar práticas clínicas e promover o entendimento dessas condições. Metodologia: A seleção criteriosa da revisão integrativa por meio da leitura crítica e análise abrangente de artigos visam sintetizar evidências sobre transtornos psiquiátricos na infância e estratégias de intervenção, contribuindo para uma compreensão prática dessas condições, através dos descritores de saúde: “Transtornos Psiquiátricos”, “Transtornos de Comportamento”, “Psiquiatria Infantil”. Resultados: A análise comparativa de transtornos psiquiátricos na infância revela padrões e diferenças nas abordagens terapêuticas, abrangendo condições como TDAH, TEA, TAG e TOC. A coexistência de múltiplos transtornos amplifica a complexidade do tratamento, exigindo uma abordagem integrada. Profissionais enfrentam o desafio de personalizar intervenções, enfatizando a necessidade de colaboração e adaptação na gestão holística das condições. Conclusão: Em conclusão, a compreensão das nuances terapêuticas e desafios associados à coexistência de transtornos psiquiátricos na infância destaca a importância de abordagens personalizadas e da colaboração interdisciplinar para otimizar o tratamento e melhorar o bem-estar das crianças. A flexibilidade e adaptabilidade dos profissionais são fundamentais para enfrentar a complexidade dessas condições

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

Analysis of shared heritability in common disorders of the brain

ience, this issue p. eaap8757 Structured Abstract INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities' assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer's disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important "scaffolding" to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

peer reviewe