Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing

Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.

Analysis on missed diagnosis or misdiagnosis of anomalous origin of left coronary artery from pulmonary artery by echocardiography from one single medical center / 中华心血管病杂志

Objectives: To analyze the reasons of missed diagnosis or misdiagnosis on anomalous origin of left coronary artery from pulmonary artery (ALCAPA) by echocardiography. Methods: This is a retrospective study. Patients with ALCAPA who underwent surgical treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2008 to December 2021 were included. According to the results of preoperative echocardiography and surgical diagnosis, the patients were divided into confirmed group or missed diagnosis/misdiagnosis group. The results of preoperative echocardiography were collected, and the specific echocardiographic signs were analyzed. According to the experience of the doctors, the echocardiographic signs were divided into four types, namely clear displayed, vague/doubtful displayed, no display and no notice, and the display rate of each sign was calculated (display rate=number of clearly displayed cases/total number of cases×100%). By referring the surgical data, we analyzed and recorded the pathological anatomy and pathophysiological characteristics of the patients, and the rate of missed diagnosis/misdiagnosis of echocardiography in patients with different characteristics was compared. Results: A total of 21 patients were enrolled, including 11 males, aged 1.8 (0.8, 12.3) years (range 1 month to 47 years). Except for one patient with anomalous origin of left anterior descending artery, the others were all originated from the main left coronary artery (LCA). There were 13 cases of ALCAPA in infant and children, and 8 cases of adult ALCAPA. There were 15 cases in the confirmed group (diagnostic accuracy was 71.4% (15/21)), and 6 cases in the missed diagnosis/misdiagnosis group (three cases were misdiagnosed as primary endocardial fibroelastosis, two cases were misdiagnosed as coronary-pulmonary artery fistula; and one case was missed diagnosis). The working years of the physicians in the confirmed group were longer than those in the missed diagnosis/misdiagnosed group ((12.8±5.6) years vs. (8.3±4.7) years, P=0.045). In infants with ALCAPA, the detection rate of LCA-pulmonary shunt (8/10 vs. 0, P=0.035) and coronary collateral circulation (7/10 vs. 0, P=0.042) in confirmed group was higher than that in missed diagnosis/misdiagnosed group. In adult ALCAPA patients, the detection rate of LCA-pulmonary artery shunt was higher in confirmed group than that in missed diagnosis/misdiagnosed group (4/5 vs. 0, P=0.021). The missed diagnosis/misdiagnosis rate of adult type was higher than that of infant type (3/8 vs. 3/13, P=0.410). The rate of missed diagnosis/misdiagnosis was higher in patients with abnormal origin of branches than that of abnormal origin of main trunk (1/1 vs. 5/21, P=0.028). The rate of missed diagnosis/misdiagnosis in patients with LCA running between the main and pulmonary arteries was higher than that distant from the main pulmonary artery septum (4/7 vs. 2/14, P=0.064). The rate of missed diagnosis/misdiagnosis in patients with severe pulmonary hypertension was higher than that in patients without severe pulmonary hypertension (2/3 vs. 4/18, P=0.184). The reasons with an echocardiography missed diagnosis/misdiagnosis rate of≥50% included that (1) the proximal segment of LCA ran between the main and pulmonary arteries; (2) abnormal opening of LCA at the right posterior part of the pulmonary artery; (3) abnormal origin of LCA branches; (4) complicated with severe pulmonary hypertension. Conclusions: Echocardiography physicians' knowledge of ALCAPA and diagnostic vigilance are critical to the accuracy of diagnosis. Attention should be paid to the pediatric cases with no obvious precipitating factors of left ventricular enlargement, regardless of whether the left ventricular function is normal or not, the origin of coronary artery should be routinely explored.

Estudio clínico, radiológico y derivación en tumores musculoesqueléticos / Diagnosis and referral of musculoskeletal tumors

Musculoskeletal tumors are uncommon. However, the true burden of all bone and soft tissue tumors of extremities is underestimated. Usually, the diagnosis of sarcomas is missed or delayed. Therefore, an adequate clinical and radiological assessment, along with the awareness and application of simple guidelines for referral to a specialized center, are of utmost importance. These are critical steps for an appropriate diagnosis and treatment of sarcomas, improving their prognosis.

Incidencia y determinantes del Pie Diabético Úlceras en la ciudad de Amara / Incidence and determinants of Diabetic Foot Ulcers in Amara city

Diabetic foot infections are frequent clinical problem. Properly managed, most can be cured, but many patients needlessly undergo amputations because of improper diagnostic and therapeutic approaches. The aim of this study is to evaluate patients with diabetic foot ulcer and their incidences. 320 cases were taken for our study of deferent gender and age group, date of study was from January 2019 to the end of December 2019, study was done in Maysan Endocrine and Diabtology Center. Most cases were males about (59%) of young age group, most of the cases occurred in extreme weathers. Diabetic foot ulcers are preventable lesions, males at active age group more prone to develop diabetic foot lesions because they are more liable to expose to minor trauma during work. Health education for protection of diabetic patients from serious DFU complications

Impacto de la implementación de un sistema documental en el aseguramiento de la calidad en un laboratorio de análisis clínicos de un hospital público / Impact of the implementation of a documentary system on quality assurance in a clinical analysis laboratory of a public hospital

El objetivo de este trabajo fue establecer el impacto de la implementación de un sistema de gestión de calidad (SGC) en el desempeño del laboratorio de análisis clínicos del Hospital Materno Provincial. Se diseñaron diez indicadores de calidad (IC), que se midieron pre y posimplementación del sistema documental. Se encontró para el indicador solicitud médica incorrecta (SMI) una disminución de 11,2% a 6% cuando se implementó la gestión documental. Para el indicador omisión del diagnóstico (OD), el porcentaje bajó de 41,6% a 27,9% luego de la intervención. Se encontró un 5% de errores en ingreso al sistema informático del laboratorio (EI-SIL) en situación basal y 3,9% posimplementación, mientras que el indicador muestras mal remitidas (MMR) disminuyó de 3,1% a 1,9%. El 58% de los analitos disminuyó el índice de error total (IET) y el 80% aumentó el valor de sigma luego de la intervención. El 61% de los analitos disminuyó el valor de incertidumbre, mejorando de esta manera el desempeño de los métodos analíticos. El porcentaje de valores críticos (VC) comunicados al médico terapeuta antes de los 60 minutos aumentó del 20 al 54% después de la implementación de la gestión documental, mientras que el indicador reimpresión de informes (RI) disminuyó de 5,2 a 1,8%. El tiempo de respuesta (TAT) disminuyó de 164 a 125 minutos. La implementación de un SGC bajo los requisitos de normas internacionales mejoró el conocimiento y funcionamiento de los procesos del laboratorio clínico, evidenciado por la disminución de los errores en las etapas preanalítica, analítica y posanalítica.

The purpose of this study was to analyze the impact of implementing a quality management system (QMS) in the performance of a clinical laboratory of Hospital Materno Provincial. Ten quality indexes (QI) have been designed; they were measured before and after the implementation of the document management system (DMS). For the "incorrect medical application" index, there was a reduction from 11.2% to 6% when the DMS was implemented. For the "diagnostic omission" index, the percentage decreased from 41.6% to 27.9% after the implementation. Five per cent of mistakes were found in the admission of the laboratory computer system in the baseline state and 3.9% of the mistakes were found after implementation of the system. Meanwhile, the "incorrect sent samples" index decreased from 3.1% to 1.9%. Fifty eight per cent of the analytes decreased the total error index and 80% of them increased the sigma value after the intervention. Sixty one per cent of the analytes decreased the uncertainty value, thus improving the performance of analytical methods. The percentage of critical values communicated to the physician before the 60 minutes increased from 20% to 54% after the implementation of the DMS, while the "reprint of reports" index decreased from 5.2% to 1.8%. The turn around time (TAT) decreased from 164 to 125 minutes. The implementation of a QMS, under the requirements of international standards, improved the knowledge and the functioning of different processes of the clinical laboratory. This has been evidenced by the decrease of mistakes in the pre-analytical, analytical and post-analytical phases.

O objetivo deste trabalho foi estabelecer o impacto da implementação de um sistema de gestão de qualidade (SGC) no desempenho do laboratório de análises clínicas do Hospital Materno Provincial. Foram desenhados dez indicadores de qualidade (IQ), que foram medidos antes e depois da implementação do sistema documental. Foi achada uma diminuição de 11,2% para 6% no indicador solicitação médica incorreta, (SMI) quando se aplica a gestão documental. Para o indicador omissão do diagnóstico, a porcentagem baixou de 41,6% para 27,9% após a intervenção. Foram encontrados 5% de erros em entrada ao sistema informático do laboratório (EI-SIL) em situação basal e 3,9% pós-implantação, enquanto que o indicador amostras mal encaminhadas (AME) diminuiu de 3,1% para 1,9%. cincuenta e ocho por ciento dos analitos diminuíram o índice de erro total (IET) e 80% aumentou o valor de sigma após a intervenção. Sesenta e uno por ciento dos analitos diminuiu o valor de dúvidas, melhorando desta maneira o desempenho dos métodos analíticos. A porcentagem de valores críticos (VC) comunicados ao médico terapeuta antes dos 60 minutos aumentou de 20 para 54% depois da implementação da gestão documental, enquanto que o indicador reimpressão de relatórios diminuiu de 5,2 para 1,8%. O tempo de resposta diminuiu de 164 para 125 minutos. A implementação de um SGC sob os requisitos de normas internacionais melhorou o conhecimento e funcionamento dos processos do laboratório clínico, evidenciado pela diminuição dos erros nas etapas pré-analítica, analítica e pós-analítica.

Consideraciones sobre las adicciones en la formación del profesional de Ciencias Médicas / Considerations on addictions in the training of medical sciences professional

En la actualidad se acepta como adicción, cualquier actividad que el individuo no sea capaz de controlar, que lo lleve a conductas compulsivas y perjudique su calidad de vida. La drogodependencia, también llamada drogadicción o farmacodependencia, es un problema de salud causado por el frecuente uso de sustancias adictivas llamadas drogas. No nos resulta nuevo que gran cantidad de estudiantes universitarios consuman drogas controladas para supuestamente potenciar su desempeño académico. Cuba no escapa a esta realidad a pesar de ser un baluarte mundial en la lucha antidroga. La imitación o aprendizaje de esta conducta es un elemento clave en adolescentes y estudiantes universitarios, la dificultad estriba en el acceso al fármaco lo cual para estudiantes de determinadas carreras, por ejemplo las carreras de Ciencias Médicas, no constituye un gran obstáculo. Exponemos de forma breve las consideraciones sobre el tema (AU).

Currently, any activity the individual is not able to control, that lead him to compulsive behavior damaging his life quality is accepted as addiction. Drug-dependence, also called drug addiction of pharmacodependence, is a health problem caused by the frequent use of addictive substances called drugs. It is not a news that a big quantity of university students consume controlled drugs to supposedly potentiate their academic competence. Cuba is not free of this reality in spite of being a world bulwark in the antidrug fight. This behavior imitation or learning is a key element among teenagers and university students, the difficulty rests in the drug access for the students of several specialties, what is not a trouble for the Medicine students. We briefly expose several considerations on the them (AU).

Sifilis secundaria, como simuladora de Linfoma de Hodgkin / SECONDARY SYPHILIS , SIMULATING A HODGKIN LYMPHOMA

La Sífilis es una infección adquirida por vía sexual, producida por la bacteria Treponema pallidum. Es una enfermedad crónica sin tratamiento y cursa por etapas con manifestaciones clínicas diferentes en cada una de ellas. Se presenta el caso de un paciente varón de 27 años, que presenta una dermatosis asintomática de 3 semanas de evolución, asociado a importantes adenopatías cervicales dolorosas y a compromiso del estado general, de 2 meses de evolución, lo que en primera instancia fue interpretado como un Linfoma de Hodgkin, y que resultó ser sífilis en etapa secundaria, con buena respuesta al tratamiento convencional de ésta.

Syphilis is a sexually acquired infection caused by the bacterium Treponema pallidum. It is a chronic disease without treatment and is staged in stages with different clinical manifestations in each one of them. Case report of a 27 years old male patient with asymptomatic dermatosis of 3 weeks of evolution, associated with significant painful cervical lymphadenopathy, and systemic symptoms, 2 months of evolution, was first interpreted as a Lymphoma of Hodgkin, and that was syphilis in secondary stage, with good answer to the conventional treatment of this one.

Enfermedad de La Peyronié, un trastorno infradiagnosticado / La Peyronié´s disease, an infra-diagnosed disorder

La enfermedad de La Peyronie es una entidad patológica descrita por primera vez en 1743, por François Gigot de la Peyronie, que se manifiesta como una induración en la albugínea de los cuerpos cavernosos del pene. Es un reconocido problema que afecta a los hombres de la mediana edad. En estudios realizados se constata que su incidencia real es muy superior a la del diagnóstico. Su sintomatología consiste en la incurvación del pene durante la erección, dolor y pobre consistencia en la zona de incurvación. Debido al infradiagnóstico de esta patología y la repercusión que tiene para el paciente, se decide realizar la presentación de un caso de enfermedad de La Peyronié. Paciente ACS con 25 años de edad, blanco, que acude a consulta por dolor y aumento de volumen de la porción proximal del pene, acompañado de un cuadro depresivo, con antecedente familiar de madre con enfermedad de Ledderhose. El ultrasonido del pene mostró múltiples placas de fibrosis, el resto de los complementarios sin alteración. Se hace necesaria la divulgación de la enfermedad para la realización de un diagnóstico y tratamiento oportuno (AU).

La Peyronié´s disease is a pathological entity firstly described in 1743, by François Gigot de la Peyronie, presented as an induration in the albuginia of the cavernous body of the penis. It is a recognized problem affecting middle-aged men. In carried-out studies it is stated that its real incidence is much higher than the diagnostic incidence. The symptoms are penis curvature during the erection, pain and poor consistence in the zone of the curvature. Due to this disease's infra-diagnosis and the repercussion it has for the patient, we decided to present a case of La Peyronie´s disease. ACS patient, aged 25 years, white, assisting the consultation because of a pain and a volume increase of the penis proximal portion, accompanied by depression, and family antecedents of mother with Ledderhose´s disease. The penis ultrasound imaging showed fibrosis plaques; the rest of the complementary tests showed no alterations. It is necessary to popularize this disease for its opportune diagnosis and treatment (AU).