Instrumentos para la investigación de la muerte súbita cardiovascular / Tools for the study of sudden cardiovascular death

Introducción: La mitad de las muertes cardiovasculares son debidas a una de las manifestaciones de mayor impacto y significación dentro de la enfermedad isquémica del corazón: la muerte súbita cardiovascular. Objetivo: Describir el Algoritmo Diagnóstico y el Modelo de Recolección del Dato Primario utilizados como instrumentos para la investigación de la muerte súbita cardiovascular en Cuba. Métodos: Se presenta un Algoritmo Diagnóstico con la metodología para el estudio de los casos de muerte súbita cardiovascular y un Modelo de Recolección del Dato Primario con las principales variables sociodemográficas, clínicas y anatomo-patológicas. Resultados: El Grupo de Investigación en Muerte Súbita ha desarrollado, en un periodo de 25 años (1995-2020), investigaciones científicas con la aplicación del Algoritmo Diagnóstico y el empleo del Modelo de Recolección del Dato Primario. De las 33 718 muertes naturales estudiadas mediante estos instrumentos, se han documentado 2252 decesos súbitos, lo que representa el 6,6 por ciento de la mortalidad global registrada. Conclusiones: Se hace necesario por los colectivos de investigación disponer de instrumentos que permitan ejecutar estudios poblacionales sobre la muerte súbita cardiovascular, considerando que el 90 por ciento de los eventos anualmente sobreviene en este grupo(AU)

Introduction: Half of all cardiovascular deaths are due to sudden cardiovascular death, one of the manifestations with the greatest impact and significance in the realm of ischemic heart disease. Objective: Describe the Diagnostic Algorithm and the Primary Data Collection Model used as tools to study sudden cardiovascular death in Cuba. Methods: A presentation is made of a Diagnostic Algorithm for the study of sudden cardiovascular death cases accompanied by the corresponding methodology, and a Primary Data Collection Model with the main sociodemographic, clinical and anatomopathological variables. Results: The Sudden Death Research Team has used the Diagnostic Algorithm and Primary Data Collection Model herein presented as a scientific research tool for a period of 25 years (1995-2020). Of the 33 718 deaths by natural causes studied with these tools, 2 252 have been sudden, representing 6.6 percent of the overall mortality recorded. Conclusions: Research teams should have access to tools for the conduct of population studies about sudden cardiovascular death, considering that 90 percent of the events recorded annually occur in this risk group(AU)

Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

Abstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate management measures and to optimize therapeutic outcomes. The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenuated somatic presentation compared to other MPS types, and the symptom overlap with other developmental disorders. To shorten the time to diagnosis, a list of eight early signs and symptoms was identified through an expert system approach by a global, multidisciplinary working group of 13 specialists with expertise in various aspects of MPS and developmental disorders and three parents of MPS III patients. Coarse facial features and persistent hirsutism or prominent, thick eyebrows were identified as the most important MPS III early signs. The list of eight early MPS III signs and symptoms is the first step towards the development of a clinical algorithm aiming to identify neonates and infants with MPS III before the onset of neurocognitive damage, ultimately shortening the diagnostic journey of MPS III patients.

Biomarcadores en las neoplasias mieloproliferativas clásicas BCR-ABL1 negativas / Biomarkers in Classical Myeloproliferative Neoplasms BCR-ABL1 negative

Introducción: Los biomarcadores son útiles en la definición del diagnóstico, pronóstico y seguimiento de múltiples enfermedades. La detección o medición de uno o más biomarcadores específicos representan alteraciones en vías genéticas o epigenéticas que controlan la proliferación, diferenciación o muerte celular. Las neoplasias mieloproliferativas constituyen un grupo fenotípicamente diverso de hemopatías malignas de origen clonal, caracterizadas por una sobreproducción simple o multilineal de los elementos eritroides, mieloides y megacariocíticos; así como de una marcada predisposición a la trombosis, sangramiento y transformación leucémica. Dentro de ellas se incluyen: la policitemia vera, la trombocitemia esencial y la mielofibrosis primaria, conocidas como neoplasias mieloproliferativas clásicas BCR-ABL1 (o cromosoma Philadelfia) negativas. Las mutaciones somáticas en genes como JAK2, MPL y CARL se comportan como mutaciones drivers iniciadoras, responsables del fenotipo mieloproliferativo. Métodos: Se revisaron artículos relacionados publicados en los últimos años, en algunas bases de datos de la Biblioteca Virtual de Salud. En esta revisión se exponen los mecanismos moleculares generales de esas mutaciones y su expresión clínica; se hace referencia a las neoplasias mieloproliferativas triple negativas y sus implicaciones clínicas y se indica el algoritmo diagnóstico propuesto por la Organización Mundial de la Salud que incluye los nuevos biomarcadores. Conclusiones: El estudio molecular proporciona información valiosa para el diagnóstico y seguimiento de las neoplasias mieloprolifrativas, pero no logra diferenciar entre cada una de ellas. Por esto, se requiere de la adecuada aplicación del método clínico para llegar a un diagnóstico certero con ayuda de otros exámenes complementarios(AU)

Introduction: Biomarkers are useful in the definition of diagnosis, prognosis and monitoring of multiple diseases. The detection or measurement of one or more specific biomarkers represents alterations in genetic or epigenetic pathways that control proliferation, differentiation or cell death. The myeloproliferative neoplasms constitute a phenotypically diverse group of malignant hemopathies of clonal origin, characterized by a simple or multilinear overproduction of the erythroid, myeloid and megakaryocytic elements; as well as a marked predisposition to thrombosis, bleeding and leukemic transformation. These include: polycythemia vera, essential thrombocythemia, and primary myelofibrosis, known as classical negative myeloproliferative neoplasms BCR-ABL1 (or Philadelphia chromosome). Somatic mutations in genes such as JAK2, MPL and CARL behave as initiating driver mutations responsible for the myeloproliferative phenotype. Methods: Articles published in the last years were reviewed in some databases of the Virtual Health Library (VHL). In this review we expose the general molecular mechanisms of these mutations and their clinical expression; reference is made to the triple negative myeloproliferative neoplasms and their clinical implications and the diagnostic algorithm proposed by the World Health Organization that includes the new biomarkers is indicated. Conclusions: The molecular study provides valuable information for the diagnosis and monitoring of myeloproliferative neoplasms, but fails to differentiate between each of them. Therefore, the appropriate application of the clinical method is required to arrive at an accurate diagnosis with the help of other complementary tests(AU)

Kinetics of viral RNA, immunoglobulin-M & G antibodies in Kyasanur forest disease

Background & objectives: Kyasanur forest disease (KFD) is an infectious disease discovered in Karnataka State of India in 1957; since then, the State has been known to be enzootic for KFD. In the last few years, its presence was observed in the adjoining five States of the Western Ghats of India. The present study was conducted to understand the kinetics of viral RNA, immunoglobulin M (IgM) and IgG antibody in KFD-infected humans for developing a diagnostic algorithm for KFD. Methods: A prospective follow up study was performed among KFD patients in Sindhudurg district of Maharashtra State, India. A total of 1046 suspected patients were tested, and 72 KFD patients were enrolled and followed for 17 months (January 2016 to May 2017). Serum samples of KFD patients were screened for viral RNA, and IgM and IgG antibodies. Results: KFD viral positivity was observed from 1st to 18th post-onset day (POD). Positivity of anti-KFD virus (KFDV) IgM antibodies was detected from 4th till 122nd POD and anti-KFDV IgG antibodies detected from 5th till 474th POD. A prediction probability was determined from statistical analysis using the generalized additive model in R-software to support the laboratory findings regarding viral kinetics. Interpretation & conclusions: This study demonstrated the presence of KFD viral RNA till 18th POD, IgM antibodies till 122nd POD and IgG till the last sample collected. Based on our study an algorithm was recommended for accurate laboratory diagnosis of KFDV infection. A sample collected between 1 and 3 POD can be tested using KFDV real-time reverse transcriptase polymerase chain reaction (RT-PCR); between 4 and 24 POD, the combination of real-time RT-PCR and anti-KFDV IgM enzyme-linked immunosorbent assay (ELISA) tests can be used; between POD 25 and 132, anti-KFDV IgM and IgG ELISA are recommended.

Escala LRINEC en la Fascitis necrosante. ¿Una herramienta diagnóstica útil? / LRINEC scale in necrotizing fasciitis. A useful diagnostic tool?

Introducción: El diagnóstico de fascitis necrosante es muy difícil y precisa un alto grado de sospecha clínica. Debido a la complejidad para diagnosticar esta entidad, en 2004, Wong propone un algoritmo diagnóstico basado en parámetros de laboratorio (escala LRINEC: Laboratory Risk Indicator for Necrotizing Fascitis). Objetivo: Demostrar la utilidad diagnóstica de la escala LRINEC en la fascitis necrosante. Material y Método: Se diseña un estudio prospectivo y descriptivo, tipo serie de casos, en 28 pacientes atendidos en el Servicio de Ortopedia y Traumatología del Hospital General Docente Julio Arístegui Villamil con el diagnóstico de fascitis necrosante, en el período comprendido entre enero de 2000 y junio de 2015. Se calcula el índice LRINEC (Laboratory Risk Indicator for Necrotizing Fascitis), para predecir el riesgo de la enfermedad. Resultado: El índice LRINEC mostró una estratificación de riesgo intermedio (6-7). En los pacientes que sobrevivieron se encontraron menores valores de Proteína C reactiva que los fallecidos (t=9,7). Los pacientes del estudio que fallecieron presentaron niveles de hemoglobina menores que los supervivientes (t=8,5) y valores de creatinina mayores (t=5,5). La media del recuento de leucocitos en ambos grupos se encontró por debajo de 15x109 cels/µl. El área bajo la curva ROC fue de 0,607 (IC95 por ciento=0,47-0,73) para el Score LRINEC de este estudio. El punto de corte tuvo una sensibilidad de 66 por ciento y una especificidad de 75 por ciento. Conclusiones: La escala LRINEC es una herramienta útil cuando se sospecha una fascitis necrosante, pero se suele requerir información adicional para confirmar el diagnóstico(AU)

Introduction: The diagnosis of necrotizing fasciitis is very difficult to make, and requires a high degree of clinical suspicion. Because of the complexity of the diagnosis of this entity, Wong proposed an algorithm based on laboratory parameters in 2004 (LRINEC scale: Laboratory Risk Indicator for Necrotizing Fascitis). Objective: To demonstrate the diagnostic utility of LRINEC scale in necrotizing fasciitis. Material and Method: A descriptive prospective case series study was designed in 28 patients treated in the Department of Orthopedics and Traumatology of the General Teaching Hospital Julio Arístegui Villamil with the diagnosis of necrotizing fasciitis, from January 2000 to June 2015. LRINEC (Laboratory Risk Indicator for Necrotizing Fascitis) score is calculated to predict risk of the disease. Results:LRINEC score showed an intermediate risk stratification (6-7). In the patients that survived, lower C-reactive protein levels than the ones in the deceased patients were found (t=9,7). The patients who were included in the study and died presented lower levels of hemoglobin than the ones who survived (t=8,5), and higher values of creatinine (t=5,5). The average value of leukocytes recount in both groups was below 15x109 cels/µl. The area under the ROC curve was 0,607 (IC95 percent=0,47-0,73) for the LRINEC Score in this study. The cutoff point had a sensitivity of 66 percent and a specificity of 75 percent. Conclusions: LRINEC scale is a useful tool when a necrotizing fasciitis is suspected, but additional information is usually required to confirm the diagnosis(AU)

Development of a Biomarker-Based Diagnostic Algorithm for Posttraumatic Syndrome after Physical Injury: Design of the BioPTS Study

Severe physical injury is a leading cause of posttraumatic syndrome (PTS). This is to develop a biomarker-based diagnostic algorithm for posttraumatic syndrome (BioPTS) study. This is a 2-year longitudinal cohort study assessing patients who were hospitalized beginning in 2015 at Chonnam National University Hospital in Gwangju, Korea, after experiencing severe physical injuries. Baseline evaluations were made during the acute phase (within 1 month) of the physical injury and included extensive information on sociodemographic and clinical variables as well as a list of biomarkers. All participants will be followed up for 2 years, and the diagnostic and predictive validities of various biomarkers for PTS will be estimated. The BioPTS study will develop the most accurate models for the diagnosis and prediction of PTS, and will contribute to existing research regarding the complex relationships between severe physical injury and psychological issues.

Hipertensión pulmonar en las enfermedades respiratorias crónicas: Prueba de marcha de 6 minutos: técnica y utilidad en el diagnóstico funcional, pronóstico y seguimiento

Las enfermedades respiratorias crónicas pueden ser causa de hipertensión pulmonar (HP). La clasificación actual de HP incluye a estas enfermedades en el grupo 3 como HP debida a enfermedad pulmonar y/o hipoxia. Esta causa de HP es responsable de alrededor del 10% de todas las hipertensiones pulmonares. En general la HP suele ser de grado moderado, aunque un porcentaje pequeño pueden tener HP severa. En los estadios avanzados de las enfermedades es mayor la prevalencia de HP. El diagnóstico de patología pulmonar y/o hipoxia se realiza mediante la historia clínica y la ayuda de exámenes complementarios, fundamentalmente pruebas de función pulmonar, diagnóstico por imágenes, en especial tomografía axial computada de alta resolución y centellograma de ventilación perfusión como prueba de screening de la hipertensión arterial pulmonar (HAP) debida a tromboembolismo pulmonar crónico (grupo 4). La utilización de un algoritmo adecuado permite a través de las pruebas de función pulmonar arribar a diagnósticos fisiopatológicos de gran exactitud. Ante la sospecha de HP, por otro lado, la utilización de pruebas de detección, identificación de grupo, evaluación de la capacidad de ejercicio y cateterismo cardíaco permite discriminar entre los diferentes grupos y arribar a un diagnóstico adecuado. La prueba de marcha de 6 minutos es uno de los elementos imprescindibles en la evaluación de la HP; no solamente para realizar comparaciones pre y post tratamiento, sino también para evaluar la capacidad funcional y como predictor de morbilidad y mortalidad. Su realización requiere observar las guías disponibles, respetando las contraindicaciones absolutas y relativas y siguiendo los procedimientos establecidos a nivel internacional. Con los datos obtenidos deben expresar la distancia recorrida, la presencia o no de desaturación durante la misma, la evaluación del esfuerzo percibido (escala de Borg), el motivo de detención y la frecuencia cardíaca. Estos datos forman parte de la predicción de morbi-mortalidad y son un factor pronóstico de la enfermedad. La prueba de marcha de 6 minutos forma parte además de los estudios de seguimiento en cada una de las etapas del manejo clínico de la HAP.

Pulmonary hypertension in chronic respiratory diseases The 6-minute walk test: technical and utility in functional diagnosis, prognosis and monitoring Lung diseases can cause pulmonary hypertension (PH). The current classification of PH includes these diseases in group 3 as PH due to lung disease and/or hypoxia. This cause of PH is responsible for about 10% of all PH. Generally, the PH is often of moderate degree although a small percentage may have severe pulmonary hypertension. In the advanced stages of the disease is higher prevalence of PH. The diagnosis of lung disease and/or hypoxia is made by clinical history and complementary exams help mainly pulmonary function tests, diagnostic imaging, especially computed tomography high resolution and ventilation perfusion scintigraphy as a screening test for pulmonary arterial hypertension (PAH) due to chronic pulmonary thromboembolism (group 4). The use of an adequate algorithm allows through pulmonary function tests arrive at diagnoses pathophysiological great accuracy. Moreover, suspecting PH, the use of screening tests, group identification, assessment of exercise capacity and cardiac catheterization allows discriminating between different groups and arriving at a proper diagnosis. The 6-minute walk test is one of the essential elements in the assessment of PH, not only for comparison before and after treatment, but also to evaluate the functional capacity and as a predictor of morbidity and mortality. Its implementation requires observing guides available, respecting the absolute and relative contraindications and following established procedures worldwide. The data obtained should express the distance walked, the presence or absence of desaturation during it the evaluation perceived effort (Borg scale), the reason for arrest and heart rate. These data are part of the prediction of morbidity and mortality and are a prognostic factor the disease. The 6-minute walk test is also part of ...

Hipertensão pulmonar nas doenças respiratórias crônicas Teste de caminhada de 6 minutos: técnica e utilidade no diagnóstico funcional, prognóstico e monitorização As doenças pulmonares podem ser causa de hipertensão pulmonar (HP). A classificação atual da hipertensão pulmonar inclui a essas doenças no grupo 3, como HP devida a doença pulmonar e/ou hipóxia. Esta causa de HP é responsável torno de 10% de todas as hipertensões pulmonares. Em geral, a HP é frequentemente de grau moderado, embora uma pequena percentagem possa ter HP severa. Nos estágios avançados da doença é maior a prevalência de HP. O diagnóstico de doença pulmonar e/ou hipóxia é feito pela história clínica e apoio de exames complementares, fundamentalmente testes de função pulmonar, diagnóstico por imagem, especialmente tomografia computadorizada de alta resolução e cintilografia de ventilação perfusão como teste de triagem para a hipertensão arterial pulmonar (HAP), devido ao tromboembolismo pulmonar crônico (grupo 4). A utilização de um algoritmo adequado permite que por meio de testes de função pulmonar chegar a diagnósticos fisiopatológicos de grande exatidão. Suspeitando HP, por outro lado, a utilização de testes de triagem, identificação do grupo, avaliação da capacidade de exercício e cateterismo cardíaco permite discriminar entre os diferentes grupos e chegar a um diagnóstico adequado. O teste de caminhada de 6 minutos é um dos elementos essenciais para a avaliação do PH, não só para a comparação antes e após o tratamento, mas também para avaliar a capacidade funcional e como preditor de morbidade e mortalidade. A sua aplicação requer observando guias disponíveis, respeitando as contra-indicações absolutas e relativas e seguindo os procedimentos estabelecidos em todo o mundo. Os dados obtidos devem expressar a distância percorrida, a presença ou ausência de dessaturação durante a mesma, a avaliação da percepção subjetiva de esforço (escala de Borg), o motivo da parada do teste e a frequência cardíaca. Estes dados fazem parte da previsão de morbidade e mortalidade e é um fator prognóstico da doença. O teste de caminhada de 6 minutos também faz parte dos estudos de monitoramento em cada uma das etapas do manejo clínico de HAP.

Course of action taken by smear negative chestsymptomatics a report from a rural area in south India.

Objective: To evaluate adherence to diagnostic algorithm of Revised National Tuberculosis Control Programme (RNTCP) and course of action taken by smear-negative chest symptomatics (CSs). Method: Interviewing smear-negative chest symptomatics. Results: Of the 423 smear-negative CSs interviewed, 85 (20%) were not prescribed antibiotics and only 133 (39%) received it for more than seven days. Of the 148 patients with persistence of symptoms, 83 (56%) returned for further investigations and only 39% were X-rayed. Main reasons for not returning were: ‘not aware’ or ‘consulted another health provider.’ Conclusion: Strict adherence to diagnostic algorithm and proper counselling of patients are important for diagnosing smear-negative pulmonary tuberculosis (PTB) cases.

A double-blind study of oral salbutamol supplement and repeat sputum smear microscopy in enhancing diagnosis of smear-negative pulmonary tuberculosis in south India.

Background: As routine culture facilities are not available in TB control programme in low income countries like India, there is an urgent need to improve the sensitivity of sputum microscopy, especially in diagnosis of smear negative pulmonary TB. Methodology: In a double blind placebo controlled study, the role of repeat sputum microscopy after antibiotics and oral salbutamol supplement in improving the diagnosis of smear negative TB suspects was investigated in an urban TB clinic. We undertook culture examinations for all study patients to find out proportions of TB cases in this series. Results: Of 206 enrolled, (101 salbutamol (S), 105 placebo (P) groups) 26 were positive by repeat sputum smear examination; similar in two groups (S 16, P 10, p = 0.25). In all, 40 (S 23, P 17) including 26 smear- positives, were culture -positive for M. tuberculosis. Conclusions: Two thirds of initially smear negative but culture positive TB patients were smear positive on repeat sputum examination. Thus, repeat sputum smear microscopy for TB suspects improved the diagnosis, nevertheless oral salbutamol therapy was not beneficial. In resource poor settings, repeat sputum smear microscopy after a trial of antibiotics, could significantly improve the diagnosis of smear-negative PTB patients.