Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation.

BACKGROUND: Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases. METHODS: In our study, we specifically addressed the determination of the quality and quantity of DNA extracted from oral swab samples using NaCl procedures. RESULTS: We compared these results with extractions performed using a commercial kit. Subsequently, the obtained material underwent MS-HRM analysis for loci associated with imprinting diseases such as Prader-Willi and Angelman syndromes. CONCLUSIONS: Our study emphasizes the significance of oral swab samples as a reliable source for obtaining DNA for MS-HRM analysis. NaCl extraction stands out as a practical and cost-effective method for genetic studies, contributing to a molecular diagnosis that proves particularly beneficial for patients facing delays in characterization, ultimately influencing their treatment.

Efficacy of pharmacological and non-pharmacological therapy on pain intensity and disability of older people with chronic nonspecific low back pain: a protocol for a network meta-analysis.

BACKGROUND: The purpose of this network meta-analysis (NMA) is to investigate the efficacy of pharmacological and non-pharmacological therapy on pain intensity and disability of older people with chronic nonspecific low back pain, providing comprehensive evidence for an informed decision-making. METHODS: We will perform a systematic search to identify randomized controlled trials of pharmacological and non-pharmacological interventions for older people with chronic nonspecific low back pain. MEDLINE, Cochrane Library, Embase, AMED, PsycINFO, and PEDro will be searched without language or date restrictions. Our primary outcomes are pain intensity and disability. Risk of bias will be assessed for all studies using the revised Cochrane risk-of-bias (RoB) tool 2.0. For each pairwise comparison between the different interventions, estimated mean differences and their 95% confidence intervals will be presented. Standard pairwise meta-analyses will be performed using random effects models in STATA version 16. The competing interventions will be ranked using the surface under the cumulative ranking curve (SUCRA) for the outcomes of interest at short and long terms. The confidence in the results from NMA will be assessed using the Confidence in Network Meta-Analysis (CINeMA) framework. DISCUSSION: This NMA compares efficacy of interventions for nonspecific chronic low back pain in older people. It will provide reliable evidence for patients, clinicians, stakeholders, and researchers in this field where competing therapies, many of extraordinarily little value, are commonly used in clinical practice. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42022312565.

Effectiveness of pharmacological and non-pharmacological therapy on pain intensity and disability in older people with chronic nonspecific low back pain: a systematic review with meta-analysis.

BACKGROUND AND PURPOSE: The aim of the present systematic review was to investigate the effectiveness of pharmacological and non-pharmacological therapy on pain intensity and disability in older people with chronic nonspecific low back pain. METHODS: Searches were conducted in the MEDLINE, COCHRANE LIBRARY, EMBASE, AMED, PSYCINFO, and PEDRO databases up to 2022. Risk of bias was appraised using the Cochrane Risk of Bias 2.0 tool. Estimated mean differences and respective 95% confidence intervals were presented for each paired comparison and the strength of the current evidence was assessed using the GRADE approach. RESULTS AND DISCUSSION: Thirty-one original trials involving 2120 participants were included. All outcomes were self-rated. Pain intensity was measured using the Visual Analogue Scale or Numerical Rating Scale. Disability was evaluated using the Roland Morris Disability Questionnaire, Oswestry Disability Index or Hannover Functional Ability Questionnaire. Short-term: Moderate quality of evidence that mindfulness reduces disability compared to patient education (mean difference [MD] = - 1.38 [95% CI - 2.02 to - 0.73]); low-quality evidence that mixed exercise (MD = - 50.33 [95% CI - 57.11 to - 43.56]) reduces pain compared to no intervention, waiting list, placebo or sham; low quality of evidence that there is no effect for opioid compared to placebo (MD = - 8.26 [95% CI - 19.29 to 2.77]) with regards to reducing pain and opioid/acetaminophen reduces disability more compared to pregabalin (MD = 2.36 [95% CI] 1.86-2.86]). CONCLUSIONS: The findings showed low or very low quality of evidence for non-pharmacological interventions with a large effect in short- and long-term follow-up. The two studies that provided moderate quality of evidence had a small clinical effect. Only two studies were found that investigated pharmacological therapies-both with low quality of evidence. However, the studies were methodologically weak and had small sample sizes. Given the adverse effects of low back pain and the scarce information on the effectiveness of pharmacological and non-pharmacological treatments for older people, future randomized trials should be encouraged.

Comparative efficacy and acceptability of non-pharmacological interventions in fibromyalgia: Protocol for a network meta-analysis.

INTRODUCTION: Although several non-pharmacological interventions have been tested in the management of Fibromyalgia (FM), there is little consensus regarding the best options for the treatment of this health condition. The purpose of this network meta-analysis (NMA) is to investigate the comparative efficacy and acceptability of non-pharmacological interventions for FM, in order to assist clinical decision making through a ranking of interventions in relation to the most important clinical outcomes in these patients. METHODS AND ANALYSIS: We will perform a systematic search to identify randomised controlled trials of non-pharmacological interventions endorsed in guidelines and systematic reviews. Information sources searched will include major bibliographic databases without language or date restrictions (MEDLINE, Cochrane Library, EMBASE, AMED, PsycINFO and PEDro). Our primary outcomes will be pain intensity, patient-reported quality of life (QoL), and acceptability of treatment will be our secondary outcome. Risk of bias of the included trials will be assessed using the Cochrane risk of bias tool (RoB2). For each pairwise comparison between the different interventions, we will present mean differences (MDs) for pain intensity and QoL outcomes and Relative Risks (RRs) for acceptability, both with respective 95% confidence intervals (CIs). Initially, standard pairwise meta-analyses will be performed using a DerSimonian-Laird random effects model for all comparisons with at least two trials and then we will perform a frequentist NMA using the methodology of multivariate meta-analysis assuming a common heterogeneity parameter, using the mvmeta command and network suite in STATA. In the NMA, two different types of control group, such as placebo/sham and no intervention/waiting list will be combined as one node called "Control". The competing interventions will be ranked using the P-score, which is the frequentist analogue of surface under the cumulative ranking curve (SUCRA) for the outcomes of interest at immediate- (intervention duration of up to 2 weeks), short- (over 2 weeks up to 12 weeks) and long-terms (over 12 weeks). The confidence in the results from NMA will be assessed using the Confidence in Network Meta-analysis (CINeMA) framework. ETHICS AND DISSEMINATION: This work synthesises evidence from previously published studies and does not require ethics review or approval. A manuscript describing the findings will be submitted for publication in a peer-reviewed scientific journal. REGISTRATION: OSF (DOI: 10.17605/OSF.IO/7MS25) and registered in the PROSPERO database (CRD42020216374).

The ESCAPE trial for older people with chronic low back pain: Protocol of a randomized controlled trial.

BACKGROUND: Low-back pain is one of the most common health conditions worldwide. It is defined as pain below the costal margin and above the inferior gluteal folds. Current guidelines recommend management of chronic health (e.g., low back pain) conditions in older people at primary health care settings using active strategies (e.g., exercise). In non-specific low back pain, high quality evidence supports active strategies for general population. However, the management of non-specific low back pain in the older people has been overlooked and evidence is limited to a small number of low powered randomized controlled trials with high risk of bias. METHODS: This is a prospectively registered, open, two-arm randomised controlled trial comparing the group-based exercise and waiting list in pain intensity (11-item Pain Numerical Rating Scale) and disability (Roland Morris questionnaire) of older people (i.e., 60 years old or over) with chronic non-specific low back pain. One hundred and twenty patients will be recruited from Diamantina, Brazil. Follow-ups will be conducted in post-treatment (8 week) and 6- and 12-months post-randomisation. DISCUSSION: Our hypothesis is that group-based exercise will be better than waiting list in reducing pain intensity and disability in older people with chronic non-specific low back pain. IMPACT: The practice of individualized exercise has been studied for the management of chronic non-specific low back pain in older people. However, the group exercise, even showing high quality evidence for the improvement of several important outcomes in this population, has been ignored until now. Thus, the results of this study have the potential to indicate a viable and accessible strategy for managing chronic non-specific low back pain in the older people. TRIAL REGISTRATION: The study was prospectively registered at www.ensaiosclinicos.gov.br (RBR-9j5pqs). Date-11/18/2020.

Estudo piloto de triagem usando a Análise da Curva de Dissociação de Alta Resolução Sensível à Metilação (MS -HRM) em swabs orais para detectar a Síndrome de Prader-Willi / Pilot screening study using Methylation Sensitive High Resolution Dissociation Curve Analysis (MS -HRM) on oral swabs to detect Prader-Willi Syndrome

A síndrome de Prader-Willi (SPW) é uma desordem genética complexa, caracterizada por deleções, dissomia uniparental materna ou defeito no centro de imprinting no alelo paterno do cromossomo 15. As perdas de funções de genes específicos da região 15q11 afetam múltiplos sistemas corporais. O diagnóstico da SPW é difícil de ser realizado com base apenas no exame clínico e envolve a realização de diversas técnicas de biologia molecular para a completa elucidação da etiologia genética, tornando todo o processo laborioso, demorado e custoso. A realização de um teste molecular que permita um diagnóstico rápido e preciso é de vital importância para um melhor prognóstico para paciente. A coleta bem-sucedida de amostras e a extração de DNA de swabs são alternativas não invasivas e confiáveis, tanto para os pacientes quanto para os profissionais que realizarão a coleta destas amostras. Neste trabalho foi possível demonstrar um método simples de coleta de amostras e extração de DNA, que possui baixo custo, é eficaz, fácil e rápido, que fornece uma quantidade e qualidade suficiente de DNA para a execução do MS-HRM, qPCR e sequenciamento. Uma comparação dos procedimentos de extração mostra que o método simples de extração de NaCl é o mais adequado para extração de DNA de amostra bucal coletada através de swab. Neste trabalho foi demonstrado um método simples de coleta de amostras através do swab e extração de DNA com baixo custo e boa qualidade do DNA.

Prader-Willi syndrome (PWS) is a complex disorder, uniparental by deletions, dissociated from no imprint defect in any of the chromosomes 15. As gene variants of the genetic region of the 15q11 region, the diagnosis of PWS is challenging to perform based on clinical examination alone. It involves the performance of several molecular biology techniques for the complete elucidation of genetics, determining the entire laborious, time-consuming, and costly process. The performance of a molecular test allows a quick diagnosis, which is vital for a better prognosis for the patient. Successful sample collection and DNA collection from swabs are non-invasive alternatives for patients and practitioners performing probable sample collection. In this work, it was possible to demonstrate a simple sample collection and DNA method, which has a low cost, is effective, easy, and fast, and provides a sufficient quantity and quality of DNA for the execution of MS-HRM, qPCR, and sequencing. A comparison of the extraction procedures shows that the simple NaCl extraction method is the most appropriate for extracting DNA from a buccal sample collected via swab. In this work, a simple method for swab sampling and extracting DNA was demonstrated, with low cost and good DNA quality.

Does Advanced Age Reduce the Typicality of Clinical Presentation in Patients with Acute Chest Pain Related to Coronary Artery Disease? / Idade Avançada Reduz a Tipicidade da Apresentação Clínica em Pacientes Com Dor Torácica Aguda Relacionada a Doença Coronária Obstrutiva?

BACKGROUND: According to traditional diagnosis thinking, very elderly individuals are more predisposed to develop atypical symptoms in acute coronary syndromes. OBJECTIVE: To test the hypothesis that very elderly individuals are more predisposed to atypical chest pain manifestations due to obstructive coronary artery disease (CAD). METHODS: The Registry of Thoracic Pain includes patients admitted with acute chest pain. Firstly, the typicality index of this clinical manifestation was constructed: the sum of 12 symptom characteristics (8 typical and 4 atypical symptoms). In the subgroup of patients with coronary etiology, the typicality index was compared between octogenarian and non-octogenarian individuals. Statistical significance was defined by p<0.05. RESULTS: 958 patients were included in the registry, and 486 (51%) had a supposedly coronary etiology. In this group, 59 (12%) octogenarians (age 84±3.5, 50% men) were compared to 427 patients aged <80 (60±12 years, 71% men). The typicality index in octogenarians was 3.42±1.92, which is similar to that of non-octogenarians (3.44±1.74; p=0.92 in univariate analysis and p=0.80 after adjustment for sex by analysis of variance - ANOVA). There was also no statistically significant difference when the sample was divided into median age (62 years; 3.41±1.77 vs. 3.49 ± 1.77; p=0.61). There was no statistically significant linear association between age and typicality index (r=- 0.05; p=0.24). Logistic regression analysis for prediction of CAD in the general sample of 958 patients showed no interaction of typicality index with numeric age (p=0.94), octogenarians (p=0.22) or age above median (p=0.74). CONCLUSION: In patients with acute chest pain of coronary etiology, advanced age does not influence the typical clinical presentation.

FUNDAMENTO: De acordo com o pensamento diagnóstico tradicional, indivíduos muito idosos estão mais predispostos a desenvolver sintomas atípicos em síndromes coronarianas agudas. OBJETIVO: Testar a hipótese de que indivíduos muito idosos estão mais predispostos a manifestações de dor torácica atípica devido à doença arterial coronariana obstrutiva (DAC). MÉTODOS: O Registro de dor torácica inclui pacientes internados com dor torácica aguda. Primeiramente, foi construído o índice de tipicidade dessa manifestação clínica: a soma de 12 características de sintomas (8 sintomas típicos e 4 sintomas atípicos). No subgrupo de pacientes com etiologia coronariana, o índice de tipicidade foi comparado entre octogenários e não octogenários. A significância estatística foi definida por p<0,05. RESULTADOS: 958 pacientes foram incluídos no registro, sendo que 486 (51%) tinham etiologia supostamente coronariana. Nesse grupo, 59 (12%) octogenários (idade 84±3,5; 50% homens) foram comparados a 427 pacientes com idade <80 (60±12 anos; 71% homens). O índice de tipicidade em octogenários foi 3,42±1,92, que é semelhante ao de não octogenários (3,44±1,74; p=0,092 na análise univariada e p=0,80 após ajuste para sexo pela análise de variância ­ ANOVA). Também não houve diferença estatisticamente significativa quando a amostra foi dividida em idade mediana (62 anos; 3,41±1,77 vs. 3,49 ± 1,77; p=0,61). Não houve associação linear estatisticamente significativa entre idade e índice de tipicidade (r=- 0,05; p=0,24). A análise de regressão logística para predição de DAC na amostra geral de 958 pacientes não mostrou interação do índice de tipicidade com a idade numérica (p=0,94), octogenários (p=0,22) ou idade acima da mediana (p=0,74). CONCLUSÃO: Em pacientes com dor torácica aguda de etiologia coronariana, a idade avançada não influencia o quadro clínico típico.

Idade Avançada Reduz a Tipicidade da Apresentação Clínica em Pacientes Com Dor Torácica Aguda Relacionada a Doença Coronária Obstrutiva? / Does Advanced Age Reduce the Typicality of Clinical Presentation in Patients with Acute Chest Pain Related to Coronary Artery Disease?

Resumo Fundamento De acordo com o pensamento diagnóstico tradicional, indivíduos muito idosos estão mais predispostos a desenvolver sintomas atípicos em síndromes coronarianas agudas. Objetivo Testar a hipótese de que indivíduos muito idosos estão mais predispostos a manifestações de dor torácica atípica devido à doença arterial coronariana obstrutiva (DAC). Métodos O Registro de dor torácica inclui pacientes internados com dor torácica aguda. Primeiramente, foi construído o índice de tipicidade dessa manifestação clínica: a soma de 12 características de sintomas (8 sintomas típicos e 4 sintomas atípicos). No subgrupo de pacientes com etiologia coronariana, o índice de tipicidade foi comparado entre octogenários e não octogenários. A significância estatística foi definida por p<0,05. Resultados 958 pacientes foram incluídos no registro, sendo que 486 (51%) tinham etiologia supostamente coronariana. Nesse grupo, 59 (12%) octogenários (idade 84±3,5; 50% homens) foram comparados a 427 pacientes com idade <80 (60±12 anos; 71% homens). O índice de tipicidade em octogenários foi 3,42±1,92, que é semelhante ao de não octogenários (3,44±1,74; p=0,092 na análise univariada e p=0,80 após ajuste para sexo pela análise de variância — ANOVA). Também não houve diferença estatisticamente significativa quando a amostra foi dividida em idade mediana (62 anos; 3,41±1,77 vs. 3,49 ± 1,77; p=0,61). Não houve associação linear estatisticamente significativa entre idade e índice de tipicidade (r=- 0,05; p=0,24). A análise de regressão logística para predição de DAC na amostra geral de 958 pacientes não mostrou interação do índice de tipicidade com a idade numérica (p=0,94), octogenários (p=0,22) ou idade acima da mediana (p=0,74). Conclusão Em pacientes com dor torácica aguda de etiologia coronariana, a idade avançada não influencia o quadro clínico típico.

Abstract Background According to traditional diagnosis thinking, very elderly individuals are more predisposed to develop atypical symptoms in acute coronary syndromes. Objective To test the hypothesis that very elderly individuals are more predisposed to atypical chest pain manifestations due to obstructive coronary artery disease (CAD). Methods The Registry of Thoracic Pain includes patients admitted with acute chest pain. Firstly, the typicality index of this clinical manifestation was constructed: the sum of 12 symptom characteristics (8 typical and 4 atypical symptoms). In the subgroup of patients with coronary etiology, the typicality index was compared between octogenarian and non-octogenarian individuals. Statistical significance was defined by p<0.05. Results 958 patients were included in the registry, and 486 (51%) had a supposedly coronary etiology. In this group, 59 (12%) octogenarians (age 84±3.5, 50% men) were compared to 427 patients aged <80 (60±12 years, 71% men). The typicality index in octogenarians was 3.42±1.92, which is similar to that of non-octogenarians (3.44±1.74; p=0.92 in univariate analysis and p=0.80 after adjustment for sex by analysis of variance — ANOVA). There was also no statistically significant difference when the sample was divided into median age (62 years; 3.41±1.77 vs. 3.49 ± 1.77; p=0.61). There was no statistically significant linear association between age and typicality index (r=- 0.05; p=0.24). Logistic regression analysis for prediction of CAD in the general sample of 958 patients showed no interaction of typicality index with numeric age (p=0.94), octogenarians (p=0.22) or age above median (p=0.74). Conclusion In patients with acute chest pain of coronary etiology, advanced age does not influence the typical clinical presentation.

Non-structural carbohydrates mediate seasonal water stress across Amazon forests.

Non-structural carbohydrates (NSC) are major substrates for plant metabolism and have been implicated in mediating drought-induced tree mortality. Despite their significance, NSC dynamics in tropical forests remain little studied. We present leaf and branch NSC data for 82 Amazon canopy tree species in six sites spanning a broad precipitation gradient. During the wet season, total NSC (NSCT) concentrations in both organs were remarkably similar across communities. However, NSCT and its soluble sugar (SS) and starch components varied much more across sites during the dry season. Notably, the proportion of leaf NSCT in the form of SS (SS:NSCT) increased greatly in the dry season in almost all species in the driest sites, implying an important role of SS in mediating water stress in these sites. This adjustment of leaf NSC balance was not observed in tree species less-adapted to water deficit, even under exceptionally dry conditions. Thus, leaf carbon metabolism may help to explain floristic sorting across water availability gradients in Amazonia and enable better prediction of forest responses to future climate change.

Custos diretos da dor lombar em hospitais financiados pelo Sistema Único de Saúde / Direct costs of low back pain in hospitals financed by the Unified Health System

INTRODUÇÃO: A dor lombar é um sintoma altamente incapacitante, que leva a um impacto social negativo para as pessoas que experimentam o sintoma, e econômico para os cofres públicos de diversos países, com gastos excessivos e por vezes desnecessários com procedimentos não resolutivos. OBJETIVOS: Relatar o número de procedimentos clínicos e cirúrgicos e os custos diretos da dor lombar em hospitais financiados pelo Sistema Único de Saúde. MÉTODOS: Os dados sobre os procedimentos clínicos e cirúrgicos foram coletados no Sistema de Informações Hospitalares no website do DATASUS, no período entre 2013 e 2018. Realizou-se análise descritiva dos dados. RESULTADOS: nos seis anos analisados os procedimentos para tratamento da dor lombar custaram financeiramente R$ 24.427.238. Estes custos aumentaram de forma expressiva ao longo dos anos observados. Realizou-se 1.689 procedimentos cirúrgicos e cada um custou em média R$ 3.290. A região sudeste do país foi a que teve maior gasto financeiro para o tratamento do sintoma (R$ 12.442.930). CONCLUSÃO: O custo da dor lombar ao longo dos anos para o sistema público está aumentando rapidamente e provavelmente é impulsionado pelo aumento no número de cirurgias.

INTRODUCTION: Low back pain is a highly disabling symptom, which leads to a negative social impact for people who experience the symptom, and economic, for public coffers in several countries, with excessive and sometimes unnecessary expenses with non-resolving procedures. OBJECTIVES: To report the number of clinical and surgical procedures and the direct costs of low back pain in hospitals financed by the Unified Health System. METHODS: The data on clinical and surgical procedures were collected in the Hospital Information System on the DATASUS website between 2013 and 2018. A descriptive analysis of the data was carried. RESULTS: In the six years analyzed, the procedures for the treatment of low back pain cost R$ 24,427,238. These costs have increased significantly over the years observed. 1,689 surgical procedures were performed, and each cost an average of R$ 3,290. The southeastern region of the country was the one that had the greatest financial expenditure for the treatment of the symptom (R$ 12,442,930). CONCLUSION: The cost of low back pain over the years to the public system is increasing rapidly and is probably driven by the increase in the number of surgeries.

Prognostic Contrast between Anatomical and Clinical Models Regarding Fatal and Non-Fatal Outcomes in Acute Coronary Syndromes. / Competência Prognóstica Distinta entre Modelo Clínico e Anatômico em Síndromes Coronarianas Agudas: Comparação por Tipo de Desfecho.

BACKGROUND: Recurrent ischemic events are mediated by atherosclerotic plaque instability, whereas death after an ischemic event results from gravity of insult and ability of the organism to adapt. The distinct nature of those types of events may respond for different prediction properties of clinical and anatomical information regarding type of outcome. OBJECTIVE: To identify prognostic properties of clinical and anatomical data in respect of fatal and non-fatal outcomes of patients hospitalized with acute coronary syndromes (ACS). METHODS: Patients consecutively admitted with ACS who underwent coronary angiography were recruited. The SYNTAX score was utilized as an anatomic model and the GRACE score as a clinical model. The predictive capacity of those scores was separately evaluated for prediction of non-fatal ischemic outcomes (infarction and refractory angina) and cardiovascular death during hospitalization. It was considered as significant a p-value <0,05. RESULTS: EAmong 365 people, cardiovascular death was observed in 4,4% and incidence of non-fatal ischemic outcomes in 11%. For cardiovascular death, SYNTAX and GRACE score presented similar C-statistic of 0,80 (95% IC: 0,70 - 0,92) and 0,89 (95% IC 0,81 - 0,96), respectively - p = 0,19. As for non-fatal ischemic outcomes, the SYNTAX score presented a moderate predictive value (C-statistic = 0,64; 95%IC 0,55 - 0,73), whereas the GRACE score did not presented association with this type of outcome (C-statistic = 0,50; 95%IC 0,40-0,61) - p = 0,027. CONCLUSION: Clinical and anatomic models similarly predict cardiovascular death in ACS. However, recurrence of coronary instability is better predicted by anatomic variables than clinical data. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0).

FUNDAMENTO: Eventos isquêmicos recorrentes decorrem de instabilidade de placa aterosclerótica, enquanto morte após um evento isquêmico decorre da gravidade do insulto. A natureza diversa desses tipos de eventos pode fazer com que dados clínicos e anatômicos tenham diferentes capacidades prognósticas a depender do tipo de desfecho. OBJETIVO: Identificar as predileções prognósticas de dados clínicos e dados anatômicos em relação a desfechos coronários fatais e não fatais durante hospitalização de pacientes com síndromes coronarianas agudas (SCA). MÉTODOS: Pacientes consecutivamente admitidos por SCA que realizaram coronariografia foram recrutados. O escore SYNTAX foi utilizado como modelo anatômico e o escore GRACE como modelo clínico. A capacidade preditora desses escores foi comparada quando à predição de desfechos isquêmicos não fatais (infarto ou angina refratária) e de morte cardiovascular durante hospitalização. Significância estatística foi definida por p < 0,05. RESULTADOS: Entre 365 indivíduos, 4,4% foi a incidência de óbito hospitalar e 11% de desfechos isquêmicos não fatais. Para morte cardiovascular, ambos os escores ­ SYNTAX e GRACE ­ apresentaram capacidade discriminatória, com estatísticas-C similares: 0,80 (95%IC: 0,70­0,92) e 0,89 (95%IC 0,81­0,96), respectivamente ­ p=0,19. Quantos aos desfechos isquêmicos não fatais, o escore SYNTAX apresentou valor preditor (estatística-C = 0,64; 95%IC 0,55­0,73), porém o escore GRACE não mostrou associação com esse tipo de desfecho (estatística-C = 0,50; 95%IC: 0,40­0,61) ­ p=0,027. CONCLUSÃO: Os modelos clínico e anatômico predizem satisfatoriamente morte cardiovascular em SCA, enquanto a recorrência de instabilidade coronária é melhor prevista por características anatômicas do que por dados clínicos. (Arq Bras Cardiol. 2020; 115(2):219-225).

Competência Prognóstica Distinta entre Modelo Clínico e Anatômico em Síndromes Coronarianas Agudas: Comparação por Tipo de Desfecho / Prognostic Contrast between Anatomical and Clinical Models Regarding Fatal and Non-Fatal Outcomes in Acute Coronary Syndromes

Resumo Fundamento Eventos isquêmicos recorrentes decorrem de instabilidade de placa aterosclerótica, enquanto morte após um evento isquêmico decorre da gravidade do insulto. A natureza diversa desses tipos de eventos pode fazer com que dados clínicos e anatômicos tenham diferentes capacidades prognósticas a depender do tipo de desfecho. Objetivo Identificar as predileções prognósticas de dados clínicos e dados anatômicos em relação a desfechos coronários fatais e não fatais durante hospitalização de pacientes com síndromes coronarianas agudas (SCA). Métodos Pacientes consecutivamente admitidos por SCA que realizaram coronariografia foram recrutados. O escore SYNTAX foi utilizado como modelo anatômico e o escore GRACE como modelo clínico. A capacidade preditora desses escores foi comparada quando à predição de desfechos isquêmicos não fatais (infarto ou angina refratária) e de morte cardiovascular durante hospitalização. Significância estatística foi definida por p < 0,05. Resultados Entre 365 indivíduos, 4,4% foi a incidência de óbito hospitalar e 11% de desfechos isquêmicos não fatais. Para morte cardiovascular, ambos os escores — SYNTAX e GRACE — apresentaram capacidade discriminatória, com estatísticas-C similares: 0,80 (95%IC: 0,70-0,92) e 0,89 (95%IC 0,81-0,96), respectivamente — p=0,19. Quantos aos desfechos isquêmicos não fatais, o escore SYNTAX apresentou valor preditor (estatística-C = 0,64; 95%IC 0,55-0,73), porém o escore GRACE não mostrou associação com esse tipo de desfecho (estatística-C = 0,50; 95%IC: 0,40-0,61) — p=0,027. Conclusão Os modelos clínico e anatômico predizem satisfatoriamente morte cardiovascular em SCA, enquanto a recorrência de instabilidade coronária é melhor prevista por características anatômicas do que por dados clínicos. (Arq Bras Cardiol. 2020; 115(2):219-225)

Abstract Background Recurrent ischemic events are mediated by atherosclerotic plaque instability, whereas death after an ischemic event results from gravity of insult and ability of the organism to adapt. The distinct nature of those types of events may respond for different prediction properties of clinical and anatomical information regarding type of outcome. Objective To identify prognostic properties of clinical and anatomical data in respect of fatal and non-fatal outcomes of patients hospitalized with acute coronary syndromes (ACS). Methods Patients consecutively admitted with ACS who underwent coronary angiography were recruited. The SYNTAX score was utilized as an anatomic model and the GRACE score as a clinical model. The predictive capacity of those scores was separately evaluated for prediction of non-fatal ischemic outcomes (infarction and refractory angina) and cardiovascular death during hospitalization. It was considered as significant a p-value <0,05. Results EAmong 365 people, cardiovascular death was observed in 4,4% and incidence of non-fatal ischemic outcomes in 11%. For cardiovascular death, SYNTAX and GRACE score presented similar C-statistic of 0,80 (95% IC: 0,70 - 0,92) and 0,89 (95% IC 0,81 - 0,96), respectively - p = 0,19. As for non-fatal ischemic outcomes, the SYNTAX score presented a moderate predictive value (C-statistic = 0,64; 95%IC 0,55 - 0,73), whereas the GRACE score did not presented association with this type of outcome (C-statistic = 0,50; 95%IC 0,40-0,61) - p = 0,027. Conclusion Clinical and anatomic models similarly predict cardiovascular death in ACS. However, recurrence of coronary instability is better predicted by anatomic variables than clinical data. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)

Prognostic Value of NT-proBNP versus Killip Classification in Patients with Acute Coronary Syndromes / Valor Prognóstico do NT-proBNP versus Classificação de Killip em Pacientes com Síndromes Coronarianas Agudas

Abstract Background: Plasma levels of brain natriuretic peptides have better diagnostic accuracy compared to clinical-radiologic judgment for acute heart failure. In acute coronary syndromes (ACS), the prognostic value of acute heart failure is incorporated into predictive models through Killip classification. It is not established whether NT-proBNP could increment prognostic prediction. Objective: To evaluate whether NT-proBNP, as a measure of left ventricular dysfunction, improves the in-hospital prognostic value of the GRACE score in ACS. Methods: Patients admitted due to acute chest pain, with electrocardiogram and/or troponin criteria for ACS were included in the study. The plasma level of NT-proBNP was measured at hospital admission and the primary endpoint was defined as cardiovascular death during hospitalization. P-value < 0.05 was considered as significant. Results: Among 352 patients studied, cardiovascular mortality was 4.8%. The predictive value of NT-proBNP for cardiovascular death was shown by a C-statistic of 0.78 (95% CI = 0.65-0.90). After adjustment for the GRACE model subtracted by Killip variable, NT-proBNP remained independently associated with cardiovascular death (p = 0.015). However, discrimination by the GRACE-BNP logistic model (C-statistics = 0.83; 95%CI = 0.69-0.97) was not superior to the traditional GRACE Score with Killip (C-statistic = 0.82; 95%CI = 0.68-0.97). The GRACE-BNP model did not provide improvement in the classification of patients to high risk by the GRACE Score (net reclassification index = - 0.15; p = 0.14). Conclusion: Despite the statistical association with cardiovascular death, there was no evidence that NT-proBNP increments the prognostic value of GRACE score in ACS.

Resumo Fundamento: Os níveis plasmáticos de peptídeos natriuréticos cerebrais têm melhor precisão diagnóstica em comparação com a avaliação clínico-radiológica para insuficiência cardíaca aguda. Nas síndromes coronárias agudas (SCA), o valor prognóstico da insuficiência cardíaca aguda é incorporado nos modelos preditivos através da classificação de Killip. Não está estabelecido se o NT-proBNP poderia aumentar a previsão prognóstica. Objetivo: Avaliar se o NT-proBNP, como medida da disfunção ventricular esquerda, melhora o valor prognóstico intra-hospitalar do escore GRACE na SCA. Métodos: Foram incluídos no estudo pacientes admitidos por dor torácica aguda, com eletrocardiograma e/ou critérios de troponina para SCA. O nível plasmático de NT-proBNP foi medido no momento da admissão hospitalar e o desfecho primário foi definido como morte cardiovascular durante a hospitalização. Foi considerado significativo o valor de p < 0,05. Resultados: A mortalidade cardiovascular entre os 352 pacientes estudados foi de 4,8%. O valor preditivo do NT-proBNP para morte cardiovascular foi mostrado por uma estatística C de 0,78 (IC 95% = 0,65-0,90). Após o ajuste para o modelo GRACE subtraído pela variável Killip, o NT-proBNP permaneceu independentemente associado à morte cardiovascular (p = 0,015). No entanto, a discriminação pelo modelo logístico GRACE-BNP (estatística C = 0,83; IC 95% = 0,69-0,97) não foi superior ao escore GRACE tradicional com Killip (estatística C = 0,82; IC 95% = 0,68-0,97). O modelo GRACE-BNP não proporcionou melhora na classificação dos pacientes de alto risco pelo Escore GRACE (índice líquido de reclassificação = - 0,15; p = 0,14). Conclusão: Apesar da associação estatística com a morte cardiovascular, não houve evidências de que o NT-proBNP aumente o valor prognóstico do escore GRACE na SCA.

Prognostic Value of NT-proBNP versus Killip Classification in Patients with Acute Coronary Syndromes.

BACKGROUND: Plasma levels of brain natriuretic peptides have better diagnostic accuracy compared to clinical-radiologic judgment for acute heart failure. In acute coronary syndromes (ACS), the prognostic value of acute heart failure is incorporated into predictive models through Killip classification. It is not established whether NT-proBNP could increment prognostic prediction. OBJECTIVE: To evaluate whether NT-proBNP, as a measure of left ventricular dysfunction, improves the in-hospital prognostic value of the GRACE score in ACS. METHODS: Patients admitted due to acute chest pain, with electrocardiogram and/or troponin criteria for ACS were included in the study. The plasma level of NT-proBNP was measured at hospital admission and the primary endpoint was defined as cardiovascular death during hospitalization. P-value < 0.05 was considered as significant. RESULTS: Among 352 patients studied, cardiovascular mortality was 4.8%. The predictive value of NT-proBNP for cardiovascular death was shown by a C-statistic of 0.78 (95% CI = 0.65-0.90). After adjustment for the GRACE model subtracted by Killip variable, NT-proBNP remained independently associated with cardiovascular death (p = 0.015). However, discrimination by the GRACE-BNP logistic model (C-statistics = 0.83; 95%CI = 0.69-0.97) was not superior to the traditional GRACE Score with Killip (C-statistic = 0.82; 95%CI = 0.68-0.97). The GRACE-BNP model did not provide improvement in the classification of patients to high risk by the GRACE Score (net reclassification index = - 0.15; p = 0.14). CONCLUSION: Despite the statistical association with cardiovascular death, there was no evidence that NT-proBNP increments the prognostic value of GRACE score in ACS.

Spontaneous Hemopneumothorax: A Rare Cause of Unexplained Hemodynamic Instability in a Young Patient.

Spontaneous hemopneumothorax is a rare and potentially life-threatening disorder which complicates about 1-12% of patients presenting with spontaneous pneumothorax and has a remarkable predilection for male patients. It may present with signs of hypovolemic shock without apparent cause. While there are no specific guidelines for the management of patients diagnosed with such condition, wide debate in the literature relating to patient selection for surgery remains unresolved, and recently there seems to be a trend increasingly favorable towards early surgical intervention. Video-assisted thoracic surgery emerges as an excellent option for stable patients and has now been considered the gold standard treatment for spontaneous hemopneumothorax. We report the case of a 17-year-old male patient who presented to the emergency department with a history of sudden chest pain and dyspnea, with no previous evidence of trauma. On admission, the patient presented with hypotension, tachycardia, and cutaneous pallor. Chest X-ray showed hydropneumothorax on the left hemithorax; then, chest tube was placed with an initial drainage of 2000 ml of blood.

An innovative proposal for anophthalmic cavity reconstruction surgery with bone cement: a case report / Proposta inovadora para reconstrução de cavidades anoftálmicas utilizando cimento ósseo: um relato de caso

ABSTRACT We present a patient who underwent evisceration surgery after spontaneous rupture of the ocular globe due to long-data uncontrolled glaucoma, with posterior placement of an orbital implant made of a bone cement compound based on polymethylmethacrylate as alternative materials were not available. Such a compound is characterized by excellent biocompatibility and low cost, which makes it an interesting alternative for treatment. The anophthalmic socket was successfully filled, providing proper esthetic results and favorable conditions for the posterior scleral prosthesis implantation. No complications were observed during 10 months of follow-up. We believe that, in the absence of alternative materials, low-cost materials may be used in emergency settings to repair anophthalmic cavities and provide satisfactory functional and esthetic outcomes.

RESUMO Apresentamos um paciente que foi submetido à cirurgia de evisceração após ruptura espontânea do globo ocular devido a glaucoma não controlado de longa data, com posterior colocação de implante orbital feito de cimento ósseo, composto à base de polimetilmetacrilato, diante da indisponibilidade de materiais alternativos. Tal composto se caracteriza pela excelente biocompatibilidade e baixo custo, o que o torna uma alternativa interessante para o tratamento. A cavidade anoftálmica foi preenchida com sucesso, fornecendo resultados estéticos adequados e condições favoráveis para o implante posterior de prótese escleral. Nenhuma complicação foi observada durante os 10 meses de seguimento. Acredi­tamos que, na ausência de materiais alternativos, materiais de baixo custo podem ser usados em situações emergenciais para preencher cavidades anoftálmicas e prover resultados funcionais e estéticos satisfatórios.

An innovative proposal for anophthalmic cavity reconstruction surgery with bone cement: a case report.

We present a patient who underwent evisceration surgery after spontaneous rupture of the ocular globe due to long-data uncontrolled glaucoma, with posterior placement of an orbital implant made of a bone cement compound based on polymethylmethacrylate as alternative materials were not available. Such a compound is characterized by excellent biocompatibility and low cost, which makes it an interesting alternative for treatment. The anophthalmic socket was successfully filled, providing proper esthetic results and favorable conditions for the posterior scleral prosthesis implantation. No complications were observed during 10 months of follow-up. We believe that, in the absence of alternative materials, low-cost materials may be used in emergency settings to repair anophthalmic cavities and provide satisfactory functional and esthetic outcomes.

Caracterización del paludismo como enfermedad endémica en Ecuador / Characterization of the malaria like endemic illness in Ecuador

RESUMEN Fundamento: el paludismo como problema de salud pública mundial, afecta a un elevado número de personas cada año. Congruente con evaluaciones de la Organización Mundial de la Salud y la Organización Panamericana de la Salud, cada año se presentan entre 50 y 100 millones de casos de la enfermedad. Objetivo: caracterizar el paludismo como enfermedad endémica en Ecuador. Métodos: se realizó una revisión bibliográfica de un total de 23 artículos en las bases de datos Scopus, Latindex y SciELO, mediante un gestor de búsqueda y administrador de referencias Endnote, de ellos 22 corresponden a los últimos cuatro años, 12 corresponden a artículos en diferentes revistas electrónicas y sitios web especializados en el tema y 11 a informes y documentos de organizaciones mundiales, de los cuales se utilizaron 72 citas seleccionadas para la revisión. Resultados: los diferentes documentos relacionados con las estadísticas, destacan el incremento del paludismo en diferentes áreas del planeta, por lo cual se intencionan acciones que contribuyen a su disminución e incluso erradicación, sin embargo en Ecuador, en los últimos dos años los resultados son desfavorables en este sentido. Conclusiones: es evidente que los directivos de la salud pública y factores comunitarios de cada país afectado por paludismo, deben asumir un enfoque preventivo que vele por los problemas de salud de las comunidades y favorezca el medio ambiente, fomenten en iniciativas que promuevan mayor responsabilidad ambiental a favor de erradicarla. En el caso de Ecuador, se muestran resultados desfavorables que tienden al incremento de esta enfermedad.

ABSTRACT Background: the malaria as problem of world public health, affects a high number of persons every year. Coherent with evaluations of the World Health Organization and the Pan-American Health Organization, between 50 and 100 million cases of the illness are presented every year. Objective: to characterize the malaria as an endemic illness in Ecuador. Methods: a bibliographical review of a whole of 23 articles was carried out in the Scopus, Latindex and SciELO databases, by means of a search engine and Endnote references manager, of them 22 correspond to last four years, 12 correspond to articles in different electronic magazines and web sites specializing in the topic and 11 to reports and documents of world organizations, of which 72 quotations selected for the review were used. Results: the different documents related to the statistics, emphasize the increase of the malaria in different areas of the planet, for which actions that contribute to its decrease and even eradication are carried out, nevertheless in Ecuador, in the last two years the results are unfavorable in this sense. Conclusions: it is clear that the managers of the public health and community factors of every country affected by malaria, must assume a preventive approach that looks over the problems of health of the communities and favors the environment, they encourage in initiatives that promote major environmental responsibility in favor of eradicating it. In case of Ecuador, there appear unfavorable results that tend to the increase of this illness.

Caracterización del paludismo como enfermedad endémica en Ecuador / Characterization of the malaria like endemic illness in Ecuador

Fundamento: el paludismo como problema de salud pública mundial, afecta a un elevado número de personas cada año. Congruente con evaluaciones de la Organización Mundial de la Salud y la Organización Panamericana de la Salud, cada año se presentan entre 50 y 100 millones de casos de la enfermedad. Objetivo: caracterizar el paludismo como enfermedad endémica en Ecuador. Métodos: se realizó una revisión bibliográfica de un total de 23 artículos en las bases de datos Scopus, Latindex y SciELO, mediante un gestor de búsqueda y administrador de referencias Endnote, de ellos 22 corresponden a los últimos cuatro años, 12 corresponden a artículos en diferentes revistas electrónicas y sitios web especializados en el tema y 11 a informes y documentos de organizaciones mundiales, de los cuales se utilizaron 72 citas seleccionadas para la revisión. Resultados: los diferentes documentos relacionados con las estadísticas, destacan el incremento del paludismo en diferentes áreas del planeta, por lo cual se intencionan acciones que contribuyen a su disminución e incluso erradicación, sin embargo en Ecuador, en los últimos dos años los resultados son desfavorables en este sentido. Conclusiones: es evidente que los directivos de la salud pública y factores comunitarios de cada país afectado por paludismo, deben asumir un enfoque preventivo que vele por los problemas de salud de las comunidades y favorezca el medio ambiente, fomenten en iniciativas que promuevan mayor responsabilidad ambiental a favor de erradicarla. En el caso de Ecuador, se muestran resultados desfavorables que tienden al incremento de esta enfermedad (AU)

Background: the malaria as problem of world public health, affects a high number of persons every year. Coherent with evaluations of the World Health Organization and the Pan-American Health Organization, between 50 and 100 million cases of the illness are presented every year. Objective: to characterize the malaria as an endemic illness in Ecuador. Methods: a bibliographical review of a whole of 23 articles was carried out in the Scopus, Latindex and SciELO databases, by means of a search engine and Endnote references manager, of them 22 correspond to last four years, 12 correspond to articles in different electronic magazines and web sites specializing in the topic and 11 to reports and documents of world organizations, of which 72 quotations selected for the review were used. Results: the different documents related to the statistics, emphasize the increase of the malaria in different areas of the planet, for which actions that contribute to its decrease and even eradication are carried out, nevertheless in Ecuador, in the last two years the results are unfavorable in this sense.Conclusions: it is clear that the managers of the public health and community factors of every country affected by malaria, must assume a preventive approach that looks over the problems of health of the communities and favors the environment, they encourage in initiatives that promote major environmental responsibility in favor of eradicating it. In case of Ecuador, there appear unfavorable results that tend to the increase of this illness (AU)

A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.

BACKGROUND: Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alterations in paternal allele causes PWS while the absence in maternal allele results AS. The laboratory diagnosis of PWS and AS is complex and demands molecular biology and cytogenetics techniques to identify the genetic mechanism related to the development of the disease. The DNA methylation analysis in chromosome 15 at the SNURF-SNRPN locus through MS-PCR confirms the diagnosis and distinguishes between PWS and AS. Our study aimed to establish the MS-PCR technique associated with High-Resolution Melting (MS-HRM) in PWS and AS diagnostic with a single pair of primers. METHODS: We collected blood samples from 43 suspected patients to a cytogenetic and methylation analysis. The extracted DNA was treated with bisulfite to perform comparative methylation analysis. RESULTS: MS-HRM and MS-PCR agreed in 100% of cases, identifying 19(44%) PWS, 3(7%) AS, and 21(49%) Normal. FISH analysis detected four cases of PWS caused by deletions in chromosome 15. CONCLUSION: The MS-HRM showed good performance with a unique pair of primers, dispensing electrophoresis gel analysis, offering a quick and reproducible diagnostic.