Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno / Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case

Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.

Sarcoid-like granulomatous myositis-associated hypercalcemia. An infrequent case to consider / Hipercalcemia asociada a miositis granulomatosa sarcoidea simil- sarcoidea. Un caso infrecuente a considerar

Abstract PTH-independent hypercalcemia due to granulomatous disease is well-documented and sarcoidosis is the most characteristic disease, although there are others. We describe a case of sarcoid-like granulomatous myositis. An 87-year-old man was referred with tetraparesis and hypercalcemia (albumin-corrected calcium of 13.4 mg/dl) following a trip to the Caribbean. The evaluation showed a suppressed PTH, 25-hydroxy vitamin D of 7.5 ng/ml, 18F-FDG PET/CT showed markedly increased uptake in intercostal, back, shoulder, but tock and thigh muscles and a deltoid biopsy confirmed extensive granulomatous myositis. He was prescribed glucocorticoids which resulted in normalized plasma calcium levels and complete recovery from tetraparesis. Sarcoid-like granulomatous myositis should be incorporated into the differential diagnosis of PTH-independent hypercalcemia, especially in the absence of clinical features of sarcoidosis and with special emphasis on the use of 18F-FDG PET/CT to ensure a correct approach.

Resumen La hipercalcemia PTH-independiente asociada a enfermedades granulomatosas está bien documentada y la sarcoidosis es la enfermedad más característica, a pesar de que existen otras. Des cribimos un caso de miositis granulomatosa simil-sarcoidea. Un hombre de 87 años consultó por tetraparesia e hipercalcemia (calcio corregido por albúmina 13.4 mg/dl) luego de un viaje al Caribe. La evaluación mostró una PTH suprimida, 25-hidroxivitamina D 7.5 ng/ml, 18F-FDG PET/CT mostró marcado aumento de captación a nivel de musculatura intercostal, dorsal, deltoidea, glúteos y muslos. Una biopsia deltoidea confirmó una miositis granulomatosa extensa. Se prescribieron glucocorticoides, resultando en normalización del calcio plasmático y completa recuperación de la tetraparesia. La miositis granulomatosa simil-sarcoidea debe ser incorporada den tro del diagnóstico diferencial de la hipercalcemia PTH-independiente, especialmente en ausencia de hallazgos clínicos de sarcoidosis y con especial énfasis en el uso de 18F-FDG PET/CT para su correcta aproximación.

Metástasis pancreática como debut de carcinoma papilar de tiroides: caso clínico y revisión del perfil clínico patológico y molecular / Papillary thyroid carcinoma presenting with pancreatic metastases: report of one case

Pancreatic metastases of papillary thyroid carcinoma (PTC) are exceptional. We report a 80-year-old man consulting for obstructive jaundice and dysphonia. Abdominal ultrasonography showed biliary dilation and abdominal magnetic resonance imaging (MRI) showed a pancreatic head mass of 36 mm. A left vocal cord paralysis was confirmed and cervical computed tomography (CT) showed multiple thyroid nodules of up to 35 mm associated with bilateral cervical lymph nodes (LN). Positron emission tomography ( 18 F-FDG PET/CT) evidenced hyper-metabolic activity in bilateral cervical LN, lungs, pancreas and left intercostal soft tissue, as well as left gluteus. Thyroid biopsy reported a tall-cell variant of PTC, and endoscopic ultrasound guided fine needle aspiration (EUS-FNA) of pancreatic mass confirmed PTC metastasis. The molecular study was positive for BRAFV600E. Pancreatic metastasis from PTC can be accurately diagnosed with 18 F-FDG PET/CT and EUS-FNA, which is consistent with a predominant expression of BRAFV600E mutation and, thus, an aggressive presentation with poor short-term survival.

Percepción de estudiantes de pregrado de Medicina de talleres de simulación de procedimientos médico-quirúrgicos / Undergraduate student's perception of clinical simulation workshops: assessment of an instrument

Background: Simulation is a useful training tool for undergraduate medical students. A valid instrument is needed to assess students' perception of simulation workshops. Aim: To adapt and validate an instrument to assess the undergraduate medical student's perception of simulation workshops of clinical procedures. Material and Methods: Delphi Methodology was used to adapt the instrument. Exploratory and confirmatory analyses were performed to determine the construct validity and Cronbach's Alpha (0 to 1) for internal consistency of the instrument. Results: A Delphi panel of 10 experts adapted a seven-item questionnaire (Likert scale 1-5; ranging from 7 to 35) and four open-questions. After 3-delphi-rounds, the instrument was administered to 210 students in six simulation training programs (Paracentesis, Cardiopulmonary Resuscitation, Airway management, Sutures, Thoracentesis and Nursing Procedures). The instrument was considered unidimensional in the factorial analysis. The overall median (Q1-Q3) score was 34 ranging from 32 to 35 and the Cronbach Alpha coefficient was 0.72, indicating a good reliability. Conclusions: The perception questionnaire is a useful and reliable instrument to assess students' perceptions of clinical simulations.

Diseño e implementación de un modelo de enseñanza en ambiente simulado de paracentesis abdomina / Design and implementation of an environment teaching model simulated abdominal paracentesis

Resumen: El aprendizaje de los estudiantes de Medicina de Pregrado en ambiente simulado constituye una alternativa en la obtención de competencias técnicas y no técnicas. Objetivo: Desarrollar un fantoma e implementar un taller modular de entrenamiento de paracentesis abdominal en ambiente simulado para estudiantes de Medicina. Métodos: Se diseñaron y desarrollaron modelos para la realización de paracentesis abdominal en la Escuela de Diseño de la Pontificia Universidad Católica de Chile (PUC) y se implementó un taller para alumnos de 4to año de Medicina de la PUC, utilizando un enfoque constructivista, sesiones de entrenamiento simulado con debriefing basadas en el modelo plus-delta y evaluación pre y post-procedimiento siguiendo los principios de evaluación para el aprendizaje. Resultados: Se desarrollaron 3 prototipos hasta llegar a un modelo definitivo de alta fidelidad basado en la percepción de 20 expertos. 237 alumnos asistieron a un taller de paracentesis abdominal en el Centro de Cirugía Experimental y Simulación Universidad Católica (UC). Este consistió en una actividad práctica grupal (7-8 alumnos por sesión) que incluyó: una evaluación pre-sesión, un vídeo instruccional, una demostración en tiempo real en el fantoma por parte de un docente, la realización guiada del procedimiento por parte de los alumnos, debriefing y cierre de la sesión. Conclusiones: Un modelo de enseñanza en ambiente simulado es posible de ser diseñado e implementado exitosamente en un centro educacional para estudiantes de Medicina de Pregrado. Este taller de paracentesis permite entrenar a los alumnos en la realización de paracentesis abdominal en un ambiente seguro para los alumnos y pacientes y puede ser implementado a bajo costo en otros centros o instituciones. (AU)

Abstract: Simulated environments are an option in the learning process of undergraduate medical students in order to obtain technical and non-technical. Aim: To develop a mannequin for abdominal paracentesis and the implementation of a training workshop to perform abdominal paracentesis in a simulated environment for undergraduate medical students. Methods: The prototypes were designed and developed to perform abdominal paracentesis at the School of Design at the Pontificia Universidad Católica de Chile (PUC) and a workshop was implemented in a course with 4-year medical students at the PUC, using a constructivist approach and simulated training sessions and providing debriefing (based on plus-delta model) and pre-post training assessment following the principles of Assessment for Learning. Results: Three prototypes were developed until the final high-fidelity-mannequin was achieved. The abdominal paracentesis workshop was attended by 237 students at the Universidad Católica (UC) Experimental Surgery and Simulation Center. This was a hands-on group activity (7-8 students per session) including pre-session assessment, instructional video-tape, real-time demonstration of abdominal paracentesis procedure by the clinical teacher, followed by abdominal paracentesis performed by the students, debriefing and closing session. Conclusions: A teaching model in a simulated environment is feasible to be successfully designed and implemented in an educational center for undergraduate medical students. This workshop allows students training process to perform abdominal paracentesis in a safe environment for students and patients and it can be implemented in other centers or institutions with low cost.(AU)