[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]. / Neoplasia endócrina múltiple y enfermedad inflamatoria intestinal de inicio muy temprano. Una asociación inesperada.

Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.

La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias primarias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.

Communication of medical errors in a simulated clinical scenario. Experience with a pediatric residency group.

OBJECTIVE: To determine the performance of groups of pediatric residents from a Buenos Aires hospital, in terms of correct recognition and communication of a medical error (ME), in a high-fidelity simulation scenario. To describe the reactions and communication attempts following the ME and the self-perception by the trainees before and after a debriefing. METHODS: Quasi-experimental uncontrolled study conducted in a simulation center. First- and third-year pediatric residents participated. We designed a simulation case in which an ME occurred and the patient deteriorated. During the simulation, participants had to provide information on communicating the ME to the patient's father. We assessed communication performance and, additionally, participants completed a self-perception survey about ME management before and after a debriefing. RESULTS: Eleven groups of residents participated. Ten (90.9%) identified the ME correctly, but only 27.3% (n=3) of them reported that a ME had occurred. None of the groups told the father they were going to give him important news concerning his son's health. All 18 residents who actively participated in this communication completed the self-perception survey, with an average score before and after debriefing of 5.00 and 5.05 (out of 10) (p=0.88). CONCLUSIONS: We observed a high number of groups that recognized the presence of a ME, but the communication action was substantially low. Communication skills were insufficient and residents' self-perception of error management was regular and not modified by the debriefing.

Neoplasia endócrina múltiple y enfermedad inflamatoria intestinal de inicio muy temprano. Una asociación inesperada / Multiple endocrine neoplasia and very early onset in flammatory bowel disease. An unexpected association

Resumen La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias prima rias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.

Abstract Very early onset inflammatory bowel disease (VEOI BD) is a rare entity in pediatrics. Its association with pri mary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endo crine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.

Communication of medical errors in a simulated clinical scenario. Experience with a pediatric residency group / Comunicação de erros médicos em cenário clínico simulado. Experiência com residentes em Pediatria

ABSTRACT Objective: To determine the performance of groups of pediatric residents from a Buenos Aires hospital, in terms of correct recognition and communication of a medical error (ME), in a high-fidelity simulation scenario. To describe the reactions and communication attempts following the ME and the self-perception by the trainees before and after a debriefing. Methods: Quasi-experimental uncontrolled study conducted in a simulation center. First- and third-year pediatric residents participated. We designed a simulation case in which an ME occurred and the patient deteriorated. During the simulation, participants had to provide information on communicating the ME to the patient's father. We assessed communication performance and, additionally, participants completed a self-perception survey about ME management before and after a debriefing. Results: Eleven groups of residents participated. Ten (90.9%) identified the ME correctly, but only 27.3% (n=3) of them reported that a ME had occurred. None of the groups told the father they were going to give him important news concerning his son's health. All 18 residents who actively participated in this communication completed the self-perception survey, with an average score before and after debriefing of 5.00 and 5.05 (out of 10) (p=0.88). Conclusions: We observed a high number of groups that recognized the presence of a ME, but the communication action was substantially low. Communication skills were insufficient and residents' self-perception of error management was regular and not modified by the debriefing.

RESUMO Objetivo: Determinar o desempenho de grupos de residentes pediátricos de um hospital de Buenos Aires, em termos de reconhecimento e comunicação correta de um erro médico (EM),em cenário de simulação. Descrever as reações e tentativas de comunicação após o EM e a autopercepção pelos estagiários antes e depois de um questionário. Métodos: Estudo quase experimental não controlado realizado em centro de simulação. Participaram residentes pediátricos do primeiro e terceiro anos. Concebeu-se um caso de simulação em que ocorreu um EM com deterioração de um paciente. Durante a simulação, os participantes tiveram que fornecer informações relacionadas à comunicação do EM ao pai do paciente. Avaliou-se o desempenho da comunicação e, adicionalmente, os participantes completaram um inquérito de autopercepção sobre a gestão da EM, antes e depois de um questionário. Resultados: Onze grupos de residentes participaram. Dez (90,9%) identificaram corretamente o EM, mas apenas 27,3% (n=3) deles comunicaram que havia ocorrido o EM. Nenhum dos grupos disse ao pai que iria dar notícias importantes sobre a saúde do seu filho. Todos os 18 residentes que participaram ativamente da comunicação completaram o questionário de autopercepção com uma pontuação média antes e depois do questionário de 5,00 e 5,05 (máximo: 10 pontos) (p=0,88). Conclusões: Observamos elevado número de grupos que reconheceram a presença de um EM, mas a ação de comunicação foi rara. A capacidade de comunicação foi insuficiente e a autopercepção da gestão de erros por parte dos residentes foi regular, não sendo modificada pelo debriefing.