Optic disc edema and visual loss from paracentral acute middle maculopathy mimicking optic neuritis

ABSTRACT Optic neuritis is an important cause of unilateral and acute visual loss in young adults, but other differential diagnoses should be considered, especially when the disease has an atypical presentation. This report presents the case of a young woman with reduced visual acuity in her right eye, associated with optic disc edema and a relative afferent pupillary defect, that was initially misdiagnosed as optic neuritis and subsequently found to have paracentral acute middle maculopathy, possibly secondary to subtle impending central retinal vein occlusion. This case emphasizes the need to remember that retinal vascular diseases can occasionally mimic optic neuritis. Detailed anamnesis and ophthalmic examination can avoid unnecessary interventions.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Challenging diagnosis of Plasmodium ovale malaria in a Colombian traveler: the importance of including P. ovale wallikeri in molecular screening

ABSTRACT This study reports a challenging diagnosis of Plasmodium ovale malaria in a Colombian citizen returning from Cameroon. Initial microscopy screenings conducted at two private hospitals yielded conflicting results, with the first showing negative smears and the second diagnosing P. vivax. Subsequent microscopy examinations at two government laboratories identified P. ovale, although the routine species-specific PCR strategy was negative. PCR confirmation was finally obtained when P. ovale wallikeri primers were used. Although P. ovale is not frequently found in Colombia, there is a clear need to include both P. ovale curtisi and P. ovale wallikeri in the molecular diagnostic strategy. Such need stems primarily from their extended latency period, which affects travelers, the increasing number of African migrants, and the importance of accurately mapping the distribution of Plasmodium species in Colombia.

"Neumonía adquirida de la comunidad": su confusión mediante las imágenes con lipoma de pericardio / "Community-Acquired Pneumonia": Confusion with Pericardial Lipoma Through Imaging

RESUMEN Se presenta un caso de bronquitis aguda confundido como neumonía de la comunidad en Emergencias Médicas con un lipoma pre existente de pericardio. Se realizan consideraciones sobre los lipomas en tomografías, incidencia y diagnósticos diferenciales, así como su confusión por profesionales no avezados en imágenes.

ABSTRACT We present a case of acute bronchitis misdiagnosed as community-acquired pneumonia in Medical Emergencies with a pre-existing pericardial lipoma. Considerations are made regarding lipomas in tomography, their incidence, and diffe rential diagnoses, as well as the confusion that can arise among professionals who are not well-versed in imaging.

Interferencia generada por la lipemia en la medición de constituyentes bioquímicos

Introducción. La turbidez por lipemia en las muestras para diagnóstico es una de las principales causas de la aparición de sesgos clínicamente significativos en la medición de magnitudes bioquímicas. Objetivo. Valorar la interferencia por lipemia en la medición de 25 constituyentes bioquímicos en dos analizadores con tecnología de química seca (Vitros 7600®) y química liquida (Atellica® Solution). Métodos. Estudio pre-experimental con pre y posprueba. Se añadieron cantidades crecientes de una emulsión lipídica de nutrición parenteral a siete alícuotas de una mezcla de sueros y se determinó por duplicado la influencia del interferente en 25 constituyentes. Se calculó el porcentaje relativo de desviación de la concentración del constituyente por influencia de la turbidez con respecto a una muestra sin interferente. Se establecieron límites de tolerancia para la interferencia utilizando tres criterios: del distribuidor de reactivos, del error sistemático deseable y del error máximo admisible. Resultados. Los constituyentes que presentaron los mayores sesgos para el analizador de química liquida fueron: fósforo (-84,72%), ALT (+81,25%) y AST (-75,76%), mientras que para la plataforma de química seca los constituyentes: ALT (-79,41%), CK (-28,92%) y lipasa (+24,85%). Se detectó interferencia significativa en diferente número de los constituyentes de acuerdo con el criterio de límite tolerable utilizado. Conclusiones. Los distintos resultados encontrados según la metodología y el analizador utilizado, además de la falta de replicabilidad de los ensayos para la valoración de interferencia por lipemia, origina la necesidad de armonizar los procesos e instaurar límites idénticos de interferencia tolerables entre los laboratorios y proveedores de insumos.

Introduction. Turbidity due to lipemia in diagnostic samples is one of the main causes of the appearance of clinically significant biases in the measurement of biochemical magnitudes. Objective. To assess the interference by lipemia in the measurement of 25 biochemical constituents in two analyzers with dry chemistry technology (Vitros 7600®) and liquid chemistry (Atellica® Solution). Methods. Pre-experimental study with pre and post test. Increasing amounts of a parenteral nutrition lipid emulsion were added to seven aliquots of pooled sera and the influence of the interferent on 25 constituents was determined in duplicate. The relative percentage deviation of the concentration of the constituent due to the influence of turbidity with respect to a sample without interference, was calculated. Tolerance limits for interference were established using three criteria: reagent distributor, desirable systematic error, and maximum permissible error. Results. The constituents that presented the greatest biases for the liquid chemistry analyzer were: Phosphorus (-84.72%), ALT (+81.25%) and AST (-75.76%), while for the dry chemistry platform the constituents, ALT (-79.41%), CK (-28.92%) and lipase (+24.85%). Significant interference was detected in a different number of constituents according to the tolerable limit criteria used. Conclusions. The different results found according to the methodology and the analyzer used, in addition to the lack of replicability of the tests for the evaluation of interference by lipemia, originates the need to harmonize the processes and establish identical limits of tolerable interference between the laboratories and suppliers of inputs.

[Pseudoascitis by giant ovaric cyst] / Pseudoascitis por quiste ovárico gigante.

The term pseudoascitis is used in patients who give the false impression of ascites, with abdominal distension but without peritoneal free fluid. The case of a 66-year-old woman, hypertensive and hypothyroid with occasional alcohol consumption, who consults due to progressive abdominal distension of 6 months of evolution and diffuse percussion dullness is presented, in whom a paracentesis is performed with the wrong endorsement of examination ultrasound that reports abundant intrabdominal free fluid (Fig. 1), later finding in the CT scan of the abdomen and pelvis an expansive process of cystic appearance of 295mm x 208mm x 250mm. Left anexectomy is programmed (Fig. 2) with pathological report of mucinous ovarian cystadenoma. The case report refers to the availability of the giant ovarian cyst within the differential diagnosis of ascites. If no symptoms or obvious signs of liver, kidney, heart or malignant disease are found and / or ultrasound does not reveal typical signs of intra-abdominal free fluid (fluid in the bottom of the Morrison or Douglas sac, presence of floating free intestinal handles), a CT scan and / or an RMI should be requested before performing paracentesis, which could have potentially serious consequences.

El término pseudoascitis, se utiliza en los pacientes que dan la falsa impresión de ascitis, con distensión abdominal pero sin líquido libre peritoneal. Se presenta el caso de una mujer de 66 años, hipertensa e hipotiroidea con consumo ocasional de alcohol, que consulta por distensión abdominal progresiva de 6 meses de evolución y matidez difusa a la percusión, en quien se realiza una paracentesis con el aval equivoco de examen ecográfico que informa abundante líquido libre  intrabdominal (Fig. 1), hallando posteriormente en TAC de abdomen y pelvis un proceso expansivo de aspecto quístico de 295mm x 208mm x 250mm. Se programa anexectomia izquierda (Fig. 2) con informe anatomopatológico de cistoadenoma mucinoso de ovario. La comunicación del caso remite a tener disponible el quiste ovárico gigante dentro de los diagnósticos diferenciales de ascitis. Si no se hallan síntomas o signos evidentes de insuficiencia hepática, renal, cardiaca o enfermedad maligna y/o la ecografía no revela signos típicos de líquido libre intrabdominal  (líquido en el fondo de saco de Morrison o de Douglas, presencia de asas intestinales libres flotantes), se debería solicitar una TAC y/o una RMI antes de realizar una paracentesis, la cual podría tener consecuencias potencialmente graves.

Concordance between referral and final diagnoses of pediatric patients with vascular malformations.

BACKGROUND: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification. METHODS: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis. RESULTS: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively). CONCLUSIONS: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

INTRODUCCIÓN: Las malformaciones vasculares (MVa) son un grupo heterogéneo de trastornos resultantes de la dismorfogénesis de los vasos sanguíneos. A pesar de que la correcta clasificación es relevante para brindar un adecuado tratamiento de acuerdo con la medicina basada en la evidencia, la terminología diagnóstica podría resultar confusa o utilizarse de manera inapropiada. MÉTODOS: En este estudio retrospectivo se midieron el acuerdo y la concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos finales confirmados de 435 pacientes pediátricos con MVa recién remitidos a la Clínica de anomalías vasculares (CAV) multidisciplinaria, mediante el análisis de concordancia kappa de Fleiss (κ). RESULTADOS: Se encontró una buena concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos confirmados de MVa (κ 0.306, p < 0.001). Las malformaciones linfáticas (LM) y las MVa asociadas con otras anomalías presentaron concordancias diagnósticas moderadas (κ 0.593, p < 0.001 y κ 0.469, p < 0.001, respectivamente). CONCLUSIONES: Se requiere de estrategias de educación médica continua para mejorar el conocimiento de los médicos y la precisión diagnóstica de los pacientes con MVa.

Concordance between referral and final diagnoses of pediatric patients with vascular malformations / Concordancia entre el diagnostico de referencia y final de pacientes pediátricos con malformaciones vasculares

Abstract Background: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification. Methods: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis. Results: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively). Conclusions: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

Resumen Introducción: Las malformaciones vasculares (MVa) son un grupo heterogéneo de trastornos resultantes de la dismorfogénesis de los vasos sanguíneos. A pesar de que la correcta clasificación es relevante para brindar un adecuado tratamiento de acuerdo con la medicina basada en la evidencia, la terminología diagnóstica podría resultar confusa o utilizarse de manera inapropiada. Métodos: En este estudio retrospectivo se midieron el acuerdo y la concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos finales confirmados de 435 pacientes pediátricos con MVa recién remitidos a la Clínica de anomalías vasculares (CAV) multidisciplinaria, mediante el análisis de concordancia kappa de Fleiss (κ). Resultados: Se encontró una buena concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos confirmados de MVa (κ 0.306, p < 0.001). Las malformaciones linfáticas (LM) y las MVa asociadas con otras anomalías presentaron concordancias diagnósticas moderadas (κ 0.593, p < 0.001 y κ 0.469, p < 0.001, respectivamente). Conclusiones: Se requiere de estrategias de educación médica continua para mejorar el conocimiento de los médicos y la precisión diagnóstica de los pacientes con MVa.

Diagnóstico Errôneo de Angiossarcoma Cardíaco na Era COVID-19 / Misdiagnosis of a Cardiac Angiosarcoma During the COVID-19 Pandemic

Resumo Os últimos meses de 2019 foram marcados pelo surgimento de uma nova pandemia, denominada "COVID-19". Desde então, essa infecção e suas complicações têm sido a prioridade de profissionais de saúde, com muitos sintomas atribuídos às suas apresentações precoces e tardias. Até o momento, outras doenças, mesmo em situações fatais, têm sido negligenciadas ou diagnosticadas incorretamente devido à atribuição dos sintomas do paciente à presença da infecção por COVID-19. Apresentamos aqui um caso de angiossarcoma cardíaco, em um menino que, cerca de 2 meses antes, havia sido infectado com COVID-19. Dado o histórico de infecção, a abordagem inicial foi o manejo da miopericardite pós-COVID-19. No entanto, o quadro do paciente piorou, exigindo reavaliação por multimodalidades com maior precisão. Por fim, o paciente foi diagnosticado com um tumor cardíaco. Este artigo procura enfatizar a importância da atenção a outras doenças e condições fatais na era COVID-19, com ênfase em evitar diagnósticos incorretos de outras doenças.

Abstract The final months of 2019 saw the emergence of a new pandemic termed "COVID-19". Since then, this infection and its complications have been the priority of healthcare providers, with many symptoms attributed to its early and late presentations. Thus far, other diseases, even fatal situations, have been overlooked or misdiagnosed due to the attribution of patient symptoms to the presence of COVID-19 infection. We herein present a case of cardiac angiosarcoma in a young boy who had previously become infected with COVID-19 about two months earlier. Given the history of infection, the initial approach was post-COVID-19 myopericarditis management. However, the patient's condition worsened, necessitating reevaluation via multimodalities with higher precision. Ultimately, the patient was diagnosed with a cardiac tumor. This article seeks to underscore the significance of taking heed of other diseases and fatal conditions during the COVID-19 pandemic with an emphasis on avoiding misdiagnosing other diseases.

Comparison of tomographic reports by radiologists and non-radiologists in trauma and interferences in management in a trauma reference center / Comparação de laudos tomográficos por médicos radiologistas x não radiologistas no trauma e interferências na conduta em um centro de referência de trauma

ABSTRACT Objective: diagnostic errors during the interpretation of an imaging test by the physician can lead to increased mortality and length of hospital stay for patients. The rate of divergence in the report given by a radiologist and an Emergency Physicians (EP) can reach over 20%. The objective of this study was to compare the unofficial tomographic reports issued by EP with the official reports issued by radiologists. Methods: a cross-sectional study, in which interpretations of the exams (documented in the medical records by the EP) of all patients undergoing computed tomography (CT) of the chest, abdomen or pelvis performed in the emergency room, at an interval of 8 months, were evaluated. These data were compared with the official reports of the radiologist (gold standard). Results: 508 patients were included. The divergence between EP and the radiologist occurred in 27% of the cases. The most common type of divergence was the one not described by the EP, but described by the radiologist. The chance of having divergence in a case of multiple trauma is 4.93 times greater in relation to the case of only blunt trauma in one segment. A statistically relevant difference was also found in the length of stay of patients who had different interpretations of the CT scans. Conclusion: the study found a relatively high divergence rate between the EP report and the official radiologist report. However, less than 4% of these were considered to be clinically relevant, indicating the ability of the EP to interpret it satisfactorily.

RESUMO Objetivo: os erros diagnósticos durante a interpretação de um exame de imagem pelo médico podem acarretar aumento da mortalidade e do tempo de internação dos pacientes. A taxa de divergência entre o laudo dado por um médico radiologista e a avaliação preliminar de um Médico Emergencista (ME) pode chegar a mais de 20%. O objetivo deste trabalho foi comparar as avaliações dos exames de imagem realizadas pelo ME com os laudos oficiais emitidos pelos radiologistas. Métodos: estudo seccional e transversal, no qual foram avaliadas interpretações dos exames (documentadas no prontuário pelos ME) de todos os pacientes submetidos à tomografia computadorizada (TC) de tórax, abdome ou pelve realizada na emergência, em um intervalo de 8 meses. Esses dados foram comparados com os laudos oficiais do médico radiologista (padrão ouro). Resultados: foram incluídos 508 pacientes no estudo. A divergência entre ME e radiologista ocorreu em 27% dos casos. O tipo de divergência mais incidente foi a não descrita pelo ME, mas descrita pelo radiologista. A chance de haver divergência em um caso de politrauma é 4,93 vezes maior em relação ao caso de somente trauma contuso em um segmento. Foi encontrada também uma diferença estatisticamente relevante no tempo de internamento dos pacientes que tiveram interpretações divergentes das tomografias. Conclusão: o estudo encontrou uma taxa de divergência relativamente alta entre o laudo do ME e o laudo oficial do radiologista. Contudo, menos de 4% dessas foram consideradas como clinicamente relevantes, indicando a capacidade dos ME em interpretar os exames de imagem de forma satisfatória.

Lupus pernio vs. lupic perniosis: a case report

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that is difficult to diagnose due to the wide array of signs and symptoms it displays that may be associated to multiple clinical conditions, including perniosis (a rare inflammatory condition), lupus pernio (a manifestation of sarcoidosis), and lupus perniosis (a form of SLE), which can be easily mistaken. Case description: A 29-year-old Colombian mestizo woman with no family history of autoimmune, inflammatory or cutaneous diseases was diagnosed with SLE after ruling out several differential diagnoses. Although the patient presented with features of lupus pernioticus (lupus perniosis), it was established that she had lupus pernio, a type of sarcoidosis. The patient was given the indicated treatment, which led to an improvement in her quality of life. Conclusion: Based on the epidemiology, clinical history and histopathologic findings, it was possible to establish that the patient presented with lupus perniosis and not lupus pernio. In that regard, considering that these three conditions (perniosis, lupus pernio and lupic perniosis) can be easily confused, the present case highlights the importance of a thorough clinical evaluation and precise use of diagnostic terms, because these are three different conditions despite their similar names.

Introducción. El lupus eritematoso sistémico (LES) es una enfermedad autoin-munitaria difícil de diagnosticar debido a la gran variedad de síntomas y signos que ocasionan las múltiples condiciones clínicas que puede provocar, tales como la perniosis (una condición inflamatoria rara), el lupus pernio (una manifestación de la sarcoidosis) y la perniosis lúpica (una forma de LES), las cuales pueden ser fácilmente confundidas. Presentación del caso. Mujer colombiana de 29 años, mestiza y sin antecedente familiar de enfermedades autoinmunes, inflamatorias o cutáneas, quien luego del descarte de varios diagnósticos diferenciales, fue diagnosticada con LES. Aunque la paciente presentó características de lupus perniótico (perniosis lúpica), se estableció que presentaba lupus pernio, un tipo de sarcoidosis. A la paciente se suministró el tratamiento indicado, con lo cual logró una mejoría en sus condiciones de vida. Conclusión. Considerando la epidemiología, la historia clínica y los hallazgos histopatológicos, se puede establecer que la paciente presentó perniosis lúpica y no lupus pernio. En este sentido, teniendo en cuenta que la perniosis, el lupus pernio y la perniosis lúpica pueden confundirse, el presente caso pone de manifiesto la importancia de hacer una evaluación clínica completa y usar los términos diagnósticos más precisos, pues aunque sean similares en nombre, estas son tres condiciones diferentes.

Raciocínio Clínico em Cardiologia: Passado, Presente e Futuro / Clinical Reasoning in Cardiology: Past, Present and Future

Resumo O raciocínio clínico nasceu 2500 anos atrás com Hipócrates, tendo evoluído ao longo dos séculos, e se tornado uma mistura de arte e ciência. Várias personalidades ao longo da história contribuíram para melhorar a acurácia diagnóstica. Contudo, o erro diagnóstico é ainda comum e causa um grande impacto nos sistemas de saúde. Para lidar com esse desafio, vários modelos de raciocínio clínico surgiram para sistematizar o processo de pensamento clínico. Este artigo descreve a história do raciocínio clínico e os métodos atuais de raciocínio diagnóstico, propõe um novo modelo de raciocínio clínico chamado Raciocínio Integrativo, e traz perspectivas sobre o futuro do raciocínio clínico.

Abstract Clinical reasoning was born 2,500 years ago with Hippocrates, having evolved over the centuries, becoming a mixture of art and science. Several personalities throughout history have contributed to improving diagnostic accuracy. Nonetheless, diagnostic error is still common and causes a severe impact on healthcare systems. To face this challenge, several clinical reasoning models have emerged to systematize the clinical thinking process. This paper describes the history of clinical reasoning and current diagnostic reasoning methods, proposes a new clinical reasoning model, called Integrative Reasoning, and brings perspectives about the future of clinical reasoning.

Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis / Erros de diagnóstico em uma população brasileira com esclerose lateral amiotrófica

Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to those of other neurological syndromes. Objective This study aimed to analyze the initial manifestations, the specialty of the first physician visited due the initial complaint, the misdiagnoses, as well as the unnecessary surgical interventions in a new ALS Brazilian population. Methods The medical records of 173 patients with typical ALS were reviewed. Results The present study demonstrated that other symptoms, besides weakness, were very frequent as initial presentation of ALS, and orthopedics was the medical specialty most sought by patients at the onset of symptoms. Our frequency of misdiagnoses was 69.7%, and in 7.1% of them, an unnecessary surgical intervention was performed. Conclusions Amyotrophic lateral sclerosis presents a very large pool of signs and symptoms; therefore, there is an urgent need of increasing the disease awareness to other specialties due to the high frequency of misdiagnoses observed in clinical practice.

Resumo Antecedentes A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa que afeta os neurônios motores superior e inferior. O diagnóstico correto no início da doença é, às vezes, muito difícil, pois os sintomas de início são muito semelhantes aos de outras síndromes neurológicas. Objetivo Este estudo teve como objetivo analisar as manifestações iniciais, a especialidade do primeiro médico visitado devido à queixa inicial, os diagnósticos errôneos, bem como as intervenções cirúrgicas desnecessárias em uma nova população brasileira acometida por ELA. Métodos Os prontuários médicos de 173 pacientes com ELA típica foram revisados. Resultados O presente estudo demonstrou que outros sintomas, além da fraqueza, foram muito frequentes como apresentação inicial da ELA, sendo a ortopedia a especialidade médica mais procurada pelos pacientes no início dos sintomas. Nossa frequência de diagnósticos errôneos foi de 69,7%, e em 7,1% deles foi realizada intervenção cirúrgica desnecessária. Conclusões A ELA apresenta um conjunto amplo de sinais e sintomas; portanto, há necessidade urgente de uma melhor educação de outras especialidades devido à alta frequência de diagnósticos equivocados observada na prática clínica.

Diagnostic pitfalls in functional neurological disorders / Armadilhas diagnósticas em transtornos neurológicos funcionais

ABSTRACT The diagnosis of functional neurological disorders is a major challenge in neurologist practice. Some clinical strategies can facilitate the recognition of functional disorders, but several pitfalls make their diagnosis difficult. Here we highlight the following points of attention during evaluation of patients with functional disorder: not all bizarre behavior is functional; not every event triggered by an emotional factor is a functional disorder; not every topographic incongruity is a functional disorder; patients may present functional and organic symptoms at the same time; psychiatric comorbid condition is not always evident in the history of a functional disorder; problematic communication at the time of diagnosis can compromise treatment and prognosis. In conclusion, we emphasize that special attention to these possible pitfalls facilitate the correct diagnosis and management of functional neurological disorders.

RESUMO O diagnóstico dos transtornos neurológicos funcionais é um grande desafio na prática do neurologista. Algumas estratégias clínicas podem facilitar o reconhecimento de transtornos funcionais, porém várias armadilhas dificultam o seu diagnóstico. Destacamos aqui os seguintes pontos de atenção durante a avaliação de pacientes com transtorno funcional: nem todo comportamento bizarro é funcional; nem todo evento desencadeado por um fator emocional é um transtorno funcional; nem toda incongruência topográfica é um transtorno funcional; pacientes podem apresentar ao mesmo tempo sintomas funcionais e orgânicos; condição psiquiátrica comórbida nem sempre é evidente na história de um transtorno funcional; comunicação problemática no momento do diagnóstico pode comprometer o tratamento e prognóstico. Em conclusão, enfatizamos que atenção especial a essas possíveis armadilhas, facilitam o diagnóstico e manejo corretos dos transtornos neurológicos funcionais.

The consequences Sars-CoV-2 pandemic on medical education in the combat leprosy / As consequências da pandemia de Sars-CoV-2 sobre a educação médica no combate à hanseníase / Las consecuencias de la pandemia de Sars-CoV-2 en educación médica en combate à lepra

Background and objectives: Leprosy is an infectious disease in which early diagnosis is a decisive factor to prevent disability and disabilities. This study sought to analyze the panorama of leprosy between 2016 and 2021 in the state of Rio Grande do Sul and unveil the importance of medical education in the context of Neglected Tropical Diseases during the Sars-CoV-2 pandemic. Methods: Cross-sectional study using the State Center database of Health Surveillance of Rio Grande do Sul. In the data collection, were included leprosy data of individuals residents in the state of Rio Grande do Sul (RS), in the 2016 period 2021. The variables analyzed were confirmed leprosy cases, notified cases, the number of cases in terms of operational classifications of leprosy, the therapeutic scheme, and the number of cases according to the degrees of physical disability. Results: Over this period, 725 cases were confirmed as leprosy, 70% in the years 2016, 2017 and 2018. Of the total number of cases, 88% were Multibacillary form of the disease, 50% had some degree of disability at diagnosis time and 80% underwent the standard treatment regimen. Conclusion: There is a delay in leprosy diagnosis, and there is underdiagnosis of the disease in the state of Rio Grande do Sul: which highlights the need to reaffirm educational practices on mycobacteriosis.(AU)

Justificativa e objetivos: A hanseníase é uma doença infectocontagiosa na qual o diagnóstico precoce é fator decisivo para prevenir incapacidade e deficiências. O presente estudo buscou analisar o panorama da hanseníase entre os anos de 2016 e 2021 no estado do Rio Grande do Sul, desvelando a importância da educação médica no contexto das Doenças Tropicais Negligenciadas durante a pandemia da Sars-CoV-2. Métodos: Estudo transversal por meio da base de dados do Centro Estadual de Vigilância em Saúde do Rio Grande do Sul. Na coleta de dados, foram incluídos os dados de hanseníase em indivíduos residentes do estado do Rio Grande do Sul (RS), no período de 2016 a 2021. As variáveis analisadas foram os casos confirmados de hanseníase, os casos notificados, o número de casos quanto às classificações operacionais de hanseníase, o esquema terapêutico e o número de casos de acordo com os graus de incapacidade física. Resultados: No período analisado, foram confirmados 725 casos de hanseníase, sendo 70% nos anos de 2016, 2017 e 2018. Do número total de casos, 88% eram a forma multibacilar da doença, 50% apresentaram algum grau de incapacidade física no momento do diagnóstico e 80% realizaram o esquema terapêutico padrão. Conclusão: Existe atraso no diagnóstico de hanseníase e há subdiagnóstico da doença no estado do Rio Grande do Sul, o que evidencia a necessidade de reafirmação das práticas educacionais sobre a micobacteriose.(AU)

Justificación y objetivos: La lepra es una enfermedad infecciosa en la que el diagnóstico precoz es un factor decisivo para prevenir la incapacidad y las discapacidades. Este estudio buscó analizar el panorama de la lepra entre 2016 y 2021 en el estado de Rio Grande do Sul y develar la importancia de la educación médica en el contexto de las Enfermedades Tropicales Desatendidas durante la pandemia Sars-CoV-2. Métodos: Estudio transversal con datos del Centro Estatal de Vigilancia en Salud de Rio Grande do Sul. La recolección de datos incluyó datos sobre lepra en individuos residentes en el estado de Rio Grande do Sul (RS), de 2016 a 2021. Las variables analizadas fueron casos confirmados de lepra, casos notificados, el número de casos en términos de clasificaciones operativas de lepra, el esquema terapéutico y el número de casos según los grados de discapacidad física. Resultados: En el período analizado se confirmaron 725 casos de lepra, 70% en los años 2016, 2017 y 2018. Del total de casos, 88% fueron la forma multibacilar de la enfermedad, 50% tenían algún grado de discapacidad física en el momento del diagnóstico y el 80% realizó el régimen terapéutico padrón. Conclusiones: Hay un retraso en el diagnóstico de la lepra y hay un infradiagnóstico de la enfermedad en el estado de Rio Grande do Sul: lo que pone de relieve la necesidad de reafirmar las prácticas educativas sobre micobacteriosis.(AU)

Spanish version of the frontotemporal dementia knowledge scale: adaptation and validation / Versión en español de la escala de conocimiento sobre demencia frontotemporal: adaptación y validación

ABSTRACT Background: Frontotemporal dementia (FTD) is a neurodegenerative disease and is one of the most common causes of dementia in people under 65. There is often a significant diagnostic delay, as FTD can be confused with other psychiatric conditions. A lack of knowledge regarding FTD by health professionals is one possible cause for this diagnostic confusion. Objectives: The aim of this study was to adapt and validate the Frontotemporal Dementia Knowledge Scale (FTDKS) in Spanish. Methods: A translation was done, following cross-cultural adaptation guidelines, which consisted of forward translation, blind back translation, and an analysis by a committee of experts. For the present study, 134 professionals from different health areas responded the Spanish version of the FTDKS. The statistical analysis was performed using R version 4.0.0 "Arbor day" and the Psych, sjPlot packages. Results: The Spanish version of the FTDKS had good reliability and internal consistency (Cronbach alpha 0.74.). The sample's mean score was 19.78 (range = 4-32, SD 6.3) out of a maximum of 36 points. Conclusions: The results obtained show that the Spanish version has good psychometric properties. The FTDKS is applicable in our environment and can be a useful tool to evaluate the knowledge of health professionals regarding frontotemporal dementia.

RESUMEN Antecedentes: La demencia frontotemporal (DFT) es una enfermedad neurodegenerativa y es una de las causas más comunes de demencia en personas menores de 65 años. A menudo existe un retraso significativo en el diagnóstico, ya que la FTD puede confundirse con otras afecciones psiquiátricas. La falta de conocimientos sobre la DFT por parte de los profesionales de salud es una posible causa de esta confusión diagnóstica. Objetivos: El presente estudio describe nuestros esfuerzos para adaptar y validar la Escala de Conocimiento de la Demencia Frontotemporal (FTDKS) en español. Métodos: Se realizó una traducción, siguiendo las pautas de adaptación transcultural, que consistió en una traducción directa, una traducción inversa ciega y un análisis por parte de un comité de expertos. Para el presente estudio, 134 profesionales de diferentes áreas de la salud respondieron la versión en español del FTDKS. El análisis estadístico se realizó utilizando la versión 4.0.0 de R "Arbor day" y los paquetes Psych, sjPlot. Resultados: La versión en español del FTDKS tiene una buena fiabilidad y consistencia interna (alfa de Cronbach 0,74.). La puntuación media de la muestra fue de 19,78 (rango = 4-32, SD 6,3) sobre un máximo de 36 puntos. Conclusiones: Los resultados obtenidos muestran que la versión española tiene buenas propiedades psicométricas. El FTDKS es aplicable en nuestro medio y puede ser una herramienta útil para evaluar los conocimientos de los profesionales sanitarios sobre la demencia frontotemporal.

Pertinencia de la solicitud del dímero D en pacientes de un servicio de urgencias / Pertinence of D-dimer request in patients in emergency services / Relevância da solicitação de D-dímero em pacientes de um setor de emergência

Introducción. El tromboembolismo pulmonar y la trombosis venosa profunda son urgencias cardiovasculares relativamente comunes, se han descrito diferentes predictores clínicos para la estratificación del riesgo, biomarcadores séricos y pruebas de imagenología. Dentro de los biomarcadores séricos se ha descrito el dímero D. Debido a que la enfermedad tromboembólica venosa es un reto diagnóstico para el clínico, el objetivo del presente estudio fue evaluar la pertinencia de la solicitud del dímero D, en el servicio de urgencias de un centro de tercer nivel en la ciudad de Bogotá durante los años 2018-2019. Metodología. Estudio observacional, descriptivo y transversal retrospectivo de pacientes que consultaron al servicio de urgencias, de una clínica de tercer nivel, de la ciudad de Bogotá, durante el periodo 2018-2019. Resultados. Se revisaron 583 historias clínicas, se excluyeron 107 pacientes, con un total final de 474 (57.3% mujeres y 42.6% hombres). De estos, 21 pacientes presentaron estudios positivos (angiotomografía y Doppler venoso). El dímero D presentó un valor predictivo negativo inferior al 50%. Discusión. A pesar de los resultados y de ser un estudio de un solo centro se evidencian las dificultades que tienen los médicos de los servicios de urgencias al momento de solicitar pruebas diagnósticas. Conclusiones. Este estudio evidencia la dificultad que existe en los servicios de urgencias al momento de la evaluación diagnóstica y cómo la solicitud de los paraclínicos tiene que ser un proceso estandarizado, guiado por los motivos de consulta y hallazgos al examen físico, y así no perder las características operativas de las pruebas diagnósticas y su utilidad al momento de la evaluación clínica.

Introduction. Pulmonary thromboembolisms and deep vein thromboses are relatively common cardiovascular emergencies. Various clinical predictors, serial biomarkers and imaging tests have been described for the stratification of the risk. D-dimer has been described within the serial biomarkers. Since venous thromboembolic disease is a diagnostic challenge for doctors, the objective of this study was to assess the pertinence of the D-dimer request in emergency services in a level three center in Bogotá during 2018-2019. Methodology. An observational, descriptive and cross-sectional retrospective study of patients who resorted to emergency services in a level three clinic in Bogotá during 2018-2019. Results. 583 medical records were reviewed, and 107 patients were excluded, with a final total of 474 patients (57.3% women and 42.6% men). Of these, 21 patients had positive studies (angiotomography and venous doppler ultrasound). D-dimer had a negative predictive value of less than 50%. Discussion. Despite the results and it being a study in a single clinic, the difficulties emergency service doctors experience when requesting diagnostic tests can be observed. Conclusions. This study shows the difficulties in emergency services when performing a diagnosis. The request for complementary tests has to be a standardized process guided by the reasons for the consultation and findings from the physical exam, in order not to lose the operational characteristics of the diagnostic tests and their usefulness during the clinical evaluation.

Introdução. Tromboembolismo pulmonar e trombose venosa profunda são emergências cardiovasculares relativamente comuns. Têm sido descritos diferentes preditores clínicos para estratificação de risco, biomarcadores séricos e testes de imagem. Entre os biomarcadores séricos, foi descrito o D-dímero. Considerando que a doença tromboembólica venosa é um desafio diagnóstico para o clínico, o objetivo deste estudo foi avaliar a relevância da solicitação de D-dímero no serviço de emergência de um centro de terceiro nível na cidade de Bogotá ao longo dos anos 2018-2019. Metodologia. Estudo observacional, descritivo e transversal retrospectivo de pacientes que consultaram o serviço de emergência de uma clínica de terceiro nível na cidade de Bogotá, no período de 2018-2019. Resultados. Foram revisados 583 prontuários, excluídos 107 pacientes, totalizando 474 (57.3% mulheres e 42.6% homens). Destes, 21 pacientes apresentaram estudos positivos (angiotomografia e Doppler venoso). D-dímero apresentou valor preditivo negativo inferior a 50%. Discussão. Apesar dos resultados e do fato de se tratar de um estudo só de um centro, são evidentes as dificuldades que os médicos de emergência apresentam ao solicitarem exames diagnósticos. Conclusões. Este estudo mostra a dificuldade que existe nos serviços de emergência no momento da avaliação diagnóstica e como a solicitação dos testes paraclínicos tem que ser um processo padronizado, orientado pelos motivos da consulta e pelos resultados do exame físico, e assim não perder as características operacionais dos exames diagnósticos e sua utilidade no momento da avaliação clínica.

Diagnostic Errors in Wilms' Tumors: Learning From Our Mistakes.

Aim: This study aimed to analyze clinical characteristics and image findings in patients initially diagnosed with renal masses and treated on the Société Internationale d'Oncologie Pédiatrique (SIOP) 2001 protocol for Wilms tumor (WT) that eventually were diagnosed with different pathologies. Methods: We reviewed the preoperative symptoms, laboratory tests, and images of patients who were initially treated for WT and proved to have other diagnoses. Data from these patients were compared to those of the last 10 patients with WT and the last 10 patients with neuroblastoma (NBL) treated at a single institution. Results: From June 2001 to December 2020, we treated 299 patients with NBL and 194 with WT. Five patients treated with preoperative chemotherapy for WT were postoperatively diagnosed with NBL (one patient had bilateral renal masses and one with multifocal xanthogranulomatous pyelonephritis). Three underwent nephrectomy, two biopsies only, and one adrenalectomy due to intraoperative characteristics. Regarding clinical presentation, abdominal mass or swelling was very suggestive of WT (p = 0.011); pain, although very prevalent in the study group (67%), was not statistically significant, as well as intratumoral calcifications on computed tomography (CT) (67%). Urinary catecholamines were elevated in all patients mistreated for WT with the exception of the patient with pyelonephritis in which it was not collected. Conclusion: Some pathologies can be misdiagnosed as WT, especially when they present unspecified symptoms and dubious images. Diagnostic accuracy was 98.1%, which highlights the quality of the multidisciplinary team. Abdominal mass or swelling is highly suggestive of WT, especially in the absence of intratumoral calcifications on CT. If possible, urinary catecholamines should be collected at presentation as they help in the differential diagnosis of NBL.

Diagnostic challenges in systemic amyloidosis: a case report with clinical and laboratorial pitfalls.

Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures.