Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy.

Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, intertriginous freckling, and multiple neurofibromas. Classically, it has been described that hypertrophic cardiomyopathy (HCM) may be a cardiovascular manifestation of neurofibromatosis 1, although the relationship between these two entities has not been fully established. We report a large Spanish family carrying a pathogenic truncating variant in NF1 (p.Arg2258Ter) causing neurofibromatosis 1, and a pathogenic missense variant in MYH7 (p. Arg453Cys), causing hypertrophic cardiomyopathy independently. A complete penetrance was observed in both genetic diseases, reinforcing the notion of deleterious effects of both rare variants. According to our report, hypertrophic cardiomyopathy in patients with NF1 should not be considered as part of the clinical spectrum in all cases. A careful and comprehensive assessment, including family evaluation and genetic testing for HCM should be considered as part of the diagnostic work-up in individuals presenting with both phenotypes.

[Lung ultrasound as a tool to guide the administration of surfactant in premature neonates]. / La ecografía pulmonar como herramienta para guiar la surfactación en neonatos prematuros.

OBJECTIVES: The aim of this study is to assess the usefulness of lung ultrasound (LUS) to estimate the endotracheal tube (ETT) depth position during the Intubation-Surfactant-Extubation (INSURE) procedure. MATERIAL AND METHODS: The ETT insertion depth was estimated using the weight (insertion depth (cm)=weight (kg)+5.5). After intubation two independent neonatologists using bilateral auscultation or LUS checked the ETT depth. RESULTS: Twelve newborns with respiratory distress syndrome were included. In two cases LUS helped to correctly replace the ETT. All the patients progressed well, with normal x-ray and LUS before discharge. CONCLUSIONS: LUS appears to be a safe and non-invasive technique and is useful in clinical situations were x-ray is not routinely performed, as it is fast and radiation free.

[Left cardiac sympathetic denervation in congenital ventricular arrythmias: initial experience]. / Denervación cardiaca simpática izquierda en las arritmias ventriculares congénitas: experiencia inicial.

BACKGROUND: Left cardiac sympathetic denervation (LCSD) has been proposed as a second-line therapy for potentially lethal ventricular arrythmia with no response to the gold standard treatment with beta-blockers. It has been used mainly in channelopathies such as long QT syndrome (LQTS) and polymorphic cathecolaminergic ventricular tachycardia (PCVT). AIM: Analizing our preliminary experience in the treatment of congenital ventricular arrythmia with thoracoscopic LCSD. MATERIAL AND METHODS: We have reviewed the first 5 LCSD performed in the last two years (2011-2013) to 5 female patients with a mean age of 8 years (1 month-15 years). The underlying disease was the LQTS in three and the PCVT in two. RESULTS: Selective contralateral bronchial intubation was used in two cases and double-lumen tube in three. We performed in all cases T1 sympathicolysis, denervation of T2 ganglion and sympathicolysis of T3 and T5 levels. No intraoperatory nor postoperatory complications were observed. In four cases ventricular tachycardia disappeared after the procedure and in one case, although they did not completely disappeared, they could be better controled on medical therapy. Ventricular extrasystoles reappeared 17 months after the procedure in one PCTV case, but disappeared completely after T1-T5 left sympathectomy completion. With a mean follow-up time of 20 months, all patients are sympthom-free and continue on betablocker oral therapy. CONCLUSIONS: Thoracoscopic DCSI is a safe and effective therapy for prevention of severe congenital ventricular arrythmias.

INTRODUCCION: La denervación cardiaca simpática izquierda (DCSI) se ha propuesto como tratamiento de segunda línea de las arritmias ventriculares con potencial riesgo de muerte que no responden al tratamiento farmacológico gold standard con beta bloqueantes. Fundamentalmente se ha utilizado en las canalopatías, que incluyen el síndrome de QT largo congénito (SQTL) y la taquicardia ventricular polimórfica catecolaminérgica (TVPC). OBJERIVO: Analizar nuestra experiencia inicial en el tratamiento de las arritmias ventriculares congénitas mediante DCSI toracoscópica. MATERIAL Y METODOS: Hemos revisado las primeras 5 DCSI realizadas en los últimos dos años (2011-2013) a 5 pacientes femeninas con una edad media de 8 años (1 mes-15 años). La patología de base fue el SQTL en tres casos y la TVPC en dos. Se utilizó una intubación selectiva contralateral en dos casos y una intubación con tubo de doble luz en tres. En todos los casos se realizó simpaticolisis T1, denervación del ganglio T2 y simpaticolisis de los niveles T3 y T5. RESULTADOS: No se registraron complicaciones intra ni postoperatorias. En 4 casos las taquicardias ventriculares desparecieron tras el procedimiento y en un caso, pese a no desaparecer completamente, se controlaron adecuadamente con tratamiento médico. Un caso de TVPC presentó nuevamente salvas de extrasístoles ventriculares (EV) 17 meses después de la simpaticolisis, realizando una simpatectomía T1-T5 con desaparición de las EV. Con un seguimiento medio de 20 meses, todas las pacientes permanecen asintomáticas y reciben tratamiento betabloqueante oral. CONCLUSIONES: La DCSI vía toracoscópica es un tratamiento efectivo y seguro para la prevención de las arritmias ventriculares congénitas graves.

[How to become a good pediatrician: a balance between theoretical and clinical training]. / Cómo llegar a ser un buen pediatra: un equilibrio entre la formación teórica y la formación clínica.

We review a different way of teaching medicine and pediatrics which balances theory and clinical training for undergraduate, postgraduate and during continuing education. We also discuss the role of the teacher. We recommend better evaluation of students and teacher assessments. We discuss the discrepancies and the harmonization of all Institutions involved in pediatric education. We analyze the model of teaching medicine and pediatrics in the Province of Quebec, Canada. We introduce advices on the application of skills in a pediatrics training program.