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.

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.

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.

Analysis of misdiagnosed cases of neck, shoulder, waist and leg pain caused by bone metastases and early warning measures / 中国基层医药

Objective:To investigate the cause of misdiagnosis of neck, shoulder, waist, and leg pain caused by bone metastases and to improve the outpatient diagnosis rate.Methods:Five misdiagnosed cases of bone metastases who were admitted to the Traditional Chinese Medicine Department of Orthopedics and Traumatology, School of Traditional Chinese Medicine, Southern Medical University from January 2019 to July 2020 were included in this study. Their clinical manifestations, diagnosis results (outside hospital diagnosis and outpatient diagnosis), and imaging manifestations were retrospectively analyzed.Results:Five cases of bone metastases were misdiagnosed to have cervical spondylosis, lumbar disc herniation, femoral head necrosis, femoral shaft fracture, and ankle sprain. Accelerated red blood cell sedimentation rate and increased C-reactive protein level were found in all five cases. Bone metastases were confirmed by X-ray, CT, and MRI examination results. All of them had warning signs for bone metastasis: age > 50 years, history of a tumor, unexplained weight loss, general malaise, neck, shoulder, waist, and leg pain without an obvious cause, sudden worsening of pain, night pain, resting pain, pain on direct palpation, no obvious improvements in these symptoms after symptomatic treatment for 1 month, disease development not conforming to the general law of cervical spondylosis, lumbar disc herniation, femoral head necrosis, femoral shaft fracture, and ankle sprain, increases in red blood cell sedimentation rate, C-reactive protein, and alkaline phosphatase levels, which are not consistent with the symptoms of cervical spondylosis, lumbar disc herniation, femoral head necrosis, femoral shaft fracture, and ankle sprain, and slight external force leading to fractures.Conclusion:Further tests and imaging examinations should be performed according to warning signs. Clinical schemes of malignant bone tumors suitable for general practitioners can easily, economically, and effectively identify malignant bone tumors.

Renal oncocytoma misdiagnosed as renal cell carcinoma: report of two cases and literature review / 中国基层医药

Objective:To investigate the clinical, imaging, and pathological characteristics of renal oncocytoma, and to improve the understanding, diagnosis, and treatment of renal oncocytoma.Methods:The imaging and pathological data of two patients misdiagnosed with renal cell carcinoma in the 970 Hospital of PLA Joint Logistics Support Force from January to March 2021 were retrospectively analyzed. The relevant literature was reviewed and discussed.Results:The tumors were located in the left kidney of two patients, with diameters of 2.7 cm and 3.2 cm respectively. The patients underwent retroperitoneal laparoscopic removal of partial left kidney and retroperitoneal laparoscopic removal of the whole left kidney separately. The pathological results confirmed the diagnosis of renal oncocytoma.Conclusion:Renal oncocytoma is a rare benign renal cell tumor which is difficult to be diagnosed before surgery. Contrast-enhanced CT can provide evidence for the identification of renal oncocytoma. Its final diagnosis depends on pathological results.

Clinical and genetic analysis of a child with hyperekplexia / 中华神经科杂志

Objective:To analyze the clinical phenotype and gene sequencing results of a child with hyperekplexia, and to clarify her genetic etiology.Methods:The clinical information of the child was collected, and the whole exome sequencing of the child and her parents was performed. The suspected pathogenic variants were verified by Sanger sequencing and bioinformatics analysis.Results:There was a 12 years old girl, who was hospitalized in the Department of Pediatric Neurology of Linyi People′s Hospital because of "paroxysmal limb stiffness for more than 11 years and aggravated for half a month" on July 4, 2022. The girl showed exaggerated startle reflexes and generalized siffness in response to external sudden, unexpected stimuli, occasionally accompanied by apnea and cyanosis, frequent attacks occurred several times a day, lasting for 1-30 minutes, and early head and abdomen flexion can be relieved. She showed normal growth and development, no abnormality in brain magnetic resonance imaging and video electroencephalogram during seizure. The whole exome sequencing showed that there was a missense heterozygous mutation c.643T>C(p.W215R) in the SLC6A5 gene of the child. Neither of the parents carried this mutation, which was a novel and de novo variant. According to the guidelines of American College of Medical Genetics and Genomics, this variant was a likely pathogenic variant [PS2: de novo (both maternity and paternity confirmed) in the patient with the disease and no family history; PM2: undetected variants in the normal population; PP3: multiple softwares predicted that this mutation would have harmful effects on genes or gene products], and highly conserved. Swiss modeling found that the hydrogen bond of the modified amino acid also changed. Conclusions:Hyperekplexia is relatively rare and prone to misdiagnosis. The main clinical features are excessive startle reflexes (limb shaking, or jumping) to unexpected external stimuli, resulting in overall stiffness, normal growth and development, and normal video electroencephalogram during the seizure. The likely pathogenic heterozygous missense variant c.643T>C (p.W215R) of SLC6A5 gene is the genetic cause of this case.

Analysis of 141 cases clinically misdiagnosed as melanoma / 中华皮肤科杂志

Objective:To analyze 141 cases clinically misdiagnosed as melanoma, and to improve the understanding and diagnosis of diseases.Methods:Totally, 141 cases preliminarily diagnosed as melanoma, which was finally excluded according to histopathological examination results, were collected from the pathological database of Department of Dermatology, Xijing Hospital, The Fourth Military Medical University from November 2001 to September 2019, and their clinical and histopathological data were analyzed retrospectively.Results:Among the 141 cases clinically misdiagnosed as melanoma, 64 were males and 77 were females. Their median age at the time of misdiagnosis was 51 years, and the average disease duration was 103.4 months. The patients mainly presented with patches and papules, most of which were black in color. Based on histopathological manifestations, 35 patients were diagnosed with pigmented nevi, 29 with basal cell carcinoma, 15 with seborrheic keratosis, 7 with Bowen′s disease, 6 with nail melanin spots, 5 with epidermal cysts, 4 with poroma, 4 with hemorrhage, 4 with dermatofibroma, and 23 with other skin diseases.Conclusions:In clinical practice, some diseases with characteristics of melanoma are liable to be misdiagnosed. It is necessary to grasp their clinical features and actively carry out auxiliary examinations such as dermoscopy and histopathological examinations to confirm the diagnosis and reduce the misdiagnosis rate.

The prognosis of patients with extremity osteosarcoma who have undergone misdiagnosis and mistreatment / 中华骨科杂志

Objective:To compare outcomes between standardized and misdiagnosis and mistreatment of osteosarcoma.Methods:A retrospective analysis of patients with high-grade osteosarcoma who received appropriate surgical treatment and chemotherapy (299 cases, control group) and those who were misdiagnosed (benign or infective) and received mistreatment (23 cases, study group) between January 2009 and December 2021. Gender, age, first operation mode, recurrence time, recurrence interval, metastasis time, metastasis interval, total survival time (months), survival status in the two group and tumor site reoperation mode in the study group were statistically analyzed. Further, chi-square test was performed for comparison of the clinical between two groups. The survival analysis was performed using Kaplan-Meier test and Log-rank test.Results:All the 322 patients were followed up. In the control group, the average follow-up time was 42 months (1-137 months), the average age was 24 years (3-80 years), male 184 cases, female 115 cases, and limb salvage rate was 85.3% (255/299). Seven patients underwent amputation, and the amputation rate was 17.7% (44/299). The recurrence rate was 8.4% (25/299), the average recurrence interval was 22.8 months (7-36 months), and the metastasis rate was 28.1% (85/299), the average metastasis time was 32.7 months (0-58 months). In the study group, the average of follow-up time was 30 months (9-117 months), the average age was 36 years (5-67 years), 17 males and 6 females. Among them, eleven patients were treated with limb salvage in the second stage, and the limb salvage rate was 47.8% (11/23). Seven patients underwent amputation, and the amputation rate was 30.4% (7/23). The recurrence rate was 26.1% (6/23), the average recurrence interval was 11 months (1-42 months), and the metastasis rate was 43.4% (10/23), the average metastasis time was 20.3 months (1-44 months). The 5-year survival rate was 50.7% in the study group and 56.1% in the control group. There was no significant difference between the two groups (χ 2=0.09, P=0.760). Conclusion:The overall prognosis of patients with high-grade osteosarcoma who receive active treatment after mistreatment is similar to that of patients with standardized treatment, but the recurrence and metastasis rate is higher, the recurrence time is earlier, and the amputation rate is higher.

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.

'Dizem que é o perigo' consequências psicossociais de rotular pessas com hipertensão leve ­ um estudo qualitativo / 'People say it is dangerous': Psychosocial consequences of Labelling People with Mild Hypertension ­ A Qualitative Study / "Dicen que es el peligro": consecuencias psicosociales de etiquetar a las personas con hipertensión leve ­ un estudio cualitativo

Hipertensão arterial leve é uma condição assintomática caracterizada por pressão arterial entre 14/9 e 16/10 mmHG e baixo risco de problemas cardiovasculares. É a condição de aproximadamente dois terços das pessoas diagnosticadas com alguma forma de hipertensão. A melhor evidência disponível não apoia o tratamento farmacológico desse grupo para a redução de mortalidade cardiovascular. Além disso, a sobredetecção de hipertensão ocorre e essa prática é apoiada por campanhas de conscientização ao público, rastreamento, acesso fácil ao teste e má prática clínica, que aumentam potencialmente o sobrediagnóstico. Poucas pesquisas qualitativas orientadas para os pacientes mostram que diagnosticar hipertensão pode ter também consequências negativas. Diante disso, são necessárias evidências sobre o potencial de efeitos psicossociais não esperados no diagnóstico de hipertensão. Objetivo: Investigar se o diagnóstico de pessoas de baixo risco com hipertensão leve tem consequências psicossociais indesejadas. Métodos: Onze entrevistas semiestruturadas e quatro grupos focais foram conduzidos em São Paulo, Brasil, com pessoas que relataram hipertensão arterial leve, sem comorbidades, com ou sem uso de medicação. Informantes foram selecionados da população geral por meio de lista de pacientes de unidades de atenção primária e também recrutados por redes sociais. Os participantes tiveram variedade em termos de sexo, idade, nível educacional, cor de pele e tempo de diagnóstico. Os dados foram submetidos à análise qualitativa de conteúdo temático por três dos autores independentemente, o que foi seguido de discussões para gerar categorias e temas. Resultados: os informantes confirmaram que o diagnóstico de hipertensão foi tomado como um rótulo para reações psicossomáticas ao estresse, medicalizou situações difíceis e causadoras de estresse, nomeando-as como doença, e foi um marco biográfico. Nós observamos consequências não intencionais do diagnóstico em uma ampla gama de dimensões psicossociais, por exemplo, medo de morte, doença e envelhecimento; pressão e controle por parte de pessoas próximas; e culpa, vergonha e ansiedade em relação ao trabalho e ao lazer. Apesar das diferentes características dos informantes, todos compartilharam histórias e sentimentos semelhantes relacionados ao rótulo. Conclusão: O diagnóstico de hipertensão é um evento significativo que afeta o dia a dia. A maior parte do impacto é considerada como consequências psicossocias negativas; porém, às vezes, o impacto pode ser ambíguo ou mesmo positivo. Os modelos explanatórios das pessoas são elementos-chave para entender e abordar as consequências psicossociais do diagnóstico, e profissionais de saúde e formuladores de políticas públicas devem estar atentos a esses potenciais consequências negativas na avaliação de risco/benefício das estratégias de diagnóstico desses casos.

Introduction: Mild hypertension is a common asymptomatic condition present in people at low risk of future cardiovascular events. These people represent approximately two-thirds of those diagnosed with hypertension. The best available evidence does not support pharmacological treatment for mild hypertension to reduce cardiovascular mortality. Additionally, overdetection of hypertension also occurs, and this practice is supported by public awareness campaigns, screening, easy access to testing, and poor clinical practice, enhancing the overdiagnosis potential. Moreover, sparse qualitative patient-oriented evidence that diagnosing hypertension has harmful consequences is observed. Therefore, evidence regarding the potential for unintended psychosocial effects of diagnosing mild hypertension is required. Objective: The aim of this study was to investigate if diagnosing low-risk people with mild hypertension has unintended psychosocial consequences. Methods: Eleven semi-structured single interviews and four focus groups were conducted in São Paulo, Brazil, among people diagnosed with mild hypertension without comorbidities. Informants were selected among the general population from a list of patients, a primary healthcare clinic, or a social network. The informants had a broad range of characteristics, including sex, age, education level, race/skin colour, and time from diagnosis. Data were subjected to qualitative thematic content analysis by three of the authors independently, followed by discussions, to generate categories and themes. Results: The informants confirmed that the hypertension diagnosis was a label for psychosomatic reactions to stress, medicalised illness experiences, and set a biographical milestone. We observed unintended consequences of the diagnosis in a broad range of psychosocial dimensions, for example, fear of death, disabilities, or ageing; pressure and control from significant others; and guilt, shame, and anxiety regarding work and leisure. Although informants had a broad range of characteristics, they shared similar stories, understandings, and labelling effects of the diagnosis. Conclusion: The diagnosis of hypertension is a significant event and affects daily life. Most of the impact is regarded as negative psychosocial consequences or harm; however, sometimes the impact might be ambiguous. Patients' explanatory models are key elements in understanding and changing the psychosocial consequences of the diagnosis, and healthcare providers must be aware of explanatory models and psychosocial consequences when evaluating blood pressure elevations.

Introducción: La hipertensión leve es una condición asintomática común presente en personas con bajo riesgo de eventos cardiovasculares futuros. Estas personas representan aproximadamente dos tercios de las personas diagnosticadas con hipertensión. La mejor evidencia disponible no respalda el tratamiento farmacológico de la hipertensión leve para reducir la mortalidad cardiovascular. Además, también se produce la sobre detección de hipertensión, y esta práctica está respaldada por campañas de concienciación pública, cribados, fácil acceso a las pruebas y mala práctica clínica, lo que aumenta el potencial de sobrediagnóstico. Además, se observa escasa evidencia cualitativa orientada al paciente de que el diagnóstico de hipertensión tiene consecuencias nocivas. Por lo tanto, se requiere evidencia con respecto al potencial de efectos psicosociales no deseados del diagnóstico de hipertensión leve. Objetivo: investigar si el diagnóstico de personas de bajo riesgo con hipertensión leve tiene consecuencias psicosociales no deseadas. Métodos: Se realizaron once entrevistas semiestructuradas y cuatro grupos focales en São Paulo, Brasil, entre personas diagnosticadas con hipertensión leve sin comorbilidades. Los informantes fueron seleccionados entre la población general de una lista de pacientes, de una clínica de atención primaria o de una red social. Los informantes tenían una amplia gama de características que incluían sexo, edad, nivel de educación, origen étnico, color de piel y tiempo desde el diagnóstico. Los datos fueron sometidos a un análisis de contenido temático cualitativo por tres de los autores de forma independiente, seguido de discusiones, para generar categorías y temas. Resultados: Los informantes confirmaron que el diagnóstico de hipertensión era una etiqueta para reacciones psicosomáticas al estrés, experiencias de enfermedad medicalizadas y marcaba un hito biográfico. Observamos consecuencias no deseadas del diagnóstico en una amplia gama de dimensiones psicosociales, por ejemplo, miedo a la muerte, discapacidades o envejecimiento; presión y control de otras personas significativas y culpa, vergüenza y ansiedad en relación con el trabajo y el ocio. Aunque los informantes tenían una amplia gama de características, compartían histórias, entendimientos y efectos de etiquetado similares del diagnóstico. Conclusión: el diagnóstico de hipertensión es un evento significativo y afecta la vida diaria. La mayor parte del impacto se considera como consecuencias o daños psicosociales negativos; sin embargo, a veces el impacto puede ser ambiguo. Los modelos explicativos de los pacientes son elementos clave para comprender y cambiar las consecuencias psicosociales del diagnóstico, y los proveedores de atención médica deben conocer los modelos explicativos y las consecuencias psicosociales al evaluar las elevaciones de la presión arterial, comunicarse y tratar.

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.

The application of sigma metrics in the laboratory to assess quality control processes in South Africa

Objective: This study aimed to determine the sigma metrics of analytes when using different total allowable error guidelines.Methods: A retrospective analysis was performed on 19 general chemistry analytes at Charlotte Maxeke Johannesburg Academic Hospital in South Africa between January 2017 and December 2017. Sigma metrics were calculated on two identical analysers, using internal quality control data and total allowable error guidelines from the Ricos biological variation database and three alternative sources (the Royal College of Pathologists of Australasia, the Clinical Laboratory Improvements Amendment, and the European Federation of Clinical Chemistry and Laboratory Medicine). Results: The sigma performance was similar on both analysers but varied based on the guideline used, with the Clinical Laboratory Improvements Amendment guidelines resulting in the best sigma metrics (53% of analytes on one analyser and 46% on the other had acceptable sigma metrics) and the Royal College of Pathologists of Australia guidelines being the most stringent (21% and 23%). Sodium and chloride performed poorly across all guidelines (sigma < 3). There were also month-to-month variations that may result in acceptable sigma despite poor performance during certain months.Conclusion: The sigma varies greatly depending on the total allowable error, but could be a valuable tool to save time and decrease costs in high-volume laboratories. Sigma metrics calculations need to be standardised

Ultrasonographic diagnosis and misdiagnosis of hepatic pregnancy / 中国医师杂志

Objective:To investigate the ultrasonographic characteristics and misdiagnosis of hepatic pregnancy.Methods:The clinical data and preoperative ultrasound characteristics of 2 cases of hepatic pregnancy admitted to the Affiliated Hospital of Jining Medical College were retrospectively summarized, and related literatures were retrieved from January 1, 1956 to December 31, 2021.Results:A total of 37 cases of hepatic pregnancy were included, among which 35 cases showed liver nodules on ultrasound examination, which were classified into four types: pregnancy cystic (24 cases), thick-walled cystic echo (6 cases), heterogeneous hyperecho (3 cases) and mixed cyst solid echo (2 cases), the exact diagnosis coincidence rate of each type was 100%, 4/6, 1/3, 0, respectively. Among the 35 liver nodules, 29(82.8%) cases were diagnosed correctly by ultrasound, 1 case was misdiagnosed as choriocarcinoma liver metastasis, 1 case was misdiagnosed as hepatic hemangioma, and 4 cases were diagnosed as liver nodules without suggestive diagnosis. No liver nodules were found in the other 2 cases, including 1 case misdiagnosed as retroperitoneal hematoma and 1 case misdiagnosed as ruptured ovarian cyst.Conclusions:Ultrasonography of hepatic pregnancy may show pregnancy sac, thick-walled cystic echo, hyperecho and mixed echo in liver. The first type is easy to be diagnosed accurately by ultrasound, while the other types are easy to be misdiagnosed. Combined with clinical conditions and the result of enhanced computed tomography (CT), the correct diagnosis rate of hepatic pregnancy can be improved.

Clinical and imaging analysis on meningiomas initially manifesting as intracranial hemorrhage in 19 cases / 中国基层医药

Objective:To investigate the main clinical characteristics, imaging features, diagnosis, and treatment of meningiomas initially manifesting as spontaneous intracranial hemorrhage.Methods:The clinical characteristics, imaging features, treatment, and follow-up data of 19 patients with meningiomas initially manifesting as spontaneous intracranial hemorrhage who received treatment in The First Affiliated Hospital of Shantou University Medical College from January 2011 to December 2020 were retrospectively analyzed.Results:Among the 19 patients, there were 6 males and 13 females, with an average age of (53 ± 14) years. The onset manifestations were sudden and severe headache and vomiting in 6 cases, progressive coma in 4 cases, and hemiplegia in 9 cases. Among the 19 patients, 15 patients showed irregular tumor shape and mixed hyperintense signal in CT, and 4 patients showed a homogeneous hyperintense signal. Eighteen patients showed peritumoral edema. Three patients showed intratumoral calcification. One patient showed an intratumoral fluid level. Fourteen patients showed isointense to hypointense signals on T1WI images and isointense to hyperintense signals on T 2WI images. Five patients showed mixed isointense and hyperintense signals on T 1WI images and mixed hypointense and hyperintense signals on T 2WI images. Heterogeneous enhancement was found in 18 patients, intratumoral cystic necrosis was found in 15 patients, and the meningeal tail sign was found in 16 patients. Preoperative imaging misdiagnosis occurred in 4 patients. Before surgery, all patients underwent surgery to resect the tumor and remove the hematoma. No patients died because of surgery. After surgery, muscle strength was improved compared with that before surgery. The average follow-up time was (46.5 ± 28.4) months. Tumor recurrence occurred in two patients. The Karnofsky Performance Scale score at the last follow-up, at discharge, and before surgery was (73.7 ± 3.4) points, (61.1 ± 5.5) points, and (49.5 ± 5.6) points, respectively ( F = 21.06, P < 0.01). The Karnofsky Performance Scale score at the last follow-up was significantly increased compared with that at discharge and before surgery ( F = 13.13, P < 0.01). Conclusion:Spontaneous hemorrhagic meningioma is rare and has a sudden onset. It is easily misdiagnosed before surgery. Skull CT, skull CT angiography, and enhanced magnetic resonance imaging examination in combination can increase the preoperative diagnosis rate. Early surgical resection of tumors and removal of hematoma can acquire good clinical efficacy.