Genetic disorders of pediatric MEN2A patients in the south of Spain

INTRODUCTION: Medullary thyroid carcinoma (MTC) is observed in nearly 100 % of patients with multiple endocrine neoplasia type 2A (MEN2A). The gene responsible for MEN2A is the RET proto-oncogene and about 95 % of MEN2A patients have germline mutations in five specific cysteine codons (609, 611, 618, 620 and 634). MATERIALS AND METHODS: A retrospective study of children from families with MEN2A in our geographic area was performed. Variables analyzed included demographic data, kinship relations, age at genetic screening, age at prophylactic thyroidectomy, genetic mutation subtype and histological findings. The genetic study consisted in direct molecular analysis by automatic sequencing of RET mutated exon in the studied family. RESULTS: We performed 13 prophylactic total thyroidectomies from 1997 to 2013, 8 females and 5 males. The mean age at genetic diagnosis was 3.8 years (range 2-5.9). All children belonged to four interconnected families living in the same geographic area and presenting C634Y mutation in all the cases. The mean age at prophylactic thyroidectomy was 5.6 years (range 4-8.5). Histopathological findings demonstrated seven cases of C-cells nodular hyperplasia, one lymphocytic thyroiditis, two without evidence of disease, two micro-carcinomas and one multicentric carcinoma. CONCLUSION: The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y. It is considered a high-risk mutation, associated with an earlier malignant transformation and development of MTC (AU)

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Genetic disorders of pediatric MEN2A patients in the south of Spain.

INTRODUCTION: Medullary thyroid carcinoma (MTC) is observed in nearly 100 % of patients with multiple endocrine neoplasia type 2A (MEN2A). The gene responsible for MEN2A is the RET proto-oncogene and about 95 % of MEN2A patients have germline mutations in five specific cysteine codons (609, 611, 618, 620 and 634). MATERIALS AND METHODS: A retrospective study of children from families with MEN2A in our geographic area was performed. Variables analyzed included demographic data, kinship relations, age at genetic screening, age at prophylactic thyroidectomy, genetic mutation subtype and histological findings. The genetic study consisted in direct molecular analysis by automatic sequencing of RET mutated exon in the studied family. RESULTS: We performed 13 prophylactic total thyroidectomies from 1997 to 2013, 8 females and 5 males. The mean age at genetic diagnosis was 3.8 years (range 2-5.9). All children belonged to four interconnected families living in the same geographic area and presenting C634Y mutation in all the cases. The mean age at prophylactic thyroidectomy was 5.6 years (range 4-8.5). Histopathological findings demonstrated seven cases of C-cells nodular hyperplasia, one lymphocytic thyroiditis, two without evidence of disease, two micro-carcinomas and one multicentric carcinoma. CONCLUSION: The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y. It is considered a high-risk mutation, associated with an earlier malignant transformation and development of MTC.

[Analysis of efficacy in diaphragmatic plication with minimally invasive surgery]. / Análisis de efectividad de la plicatura diafragmática mínimamente invasiva.

OBJECTIVE: Diaphragmatic paralysis may result difficulty for respiratory compromise and extubation. We study the effectiveness of diaphragmatic plication held in its two modalities: videothoracoscopy assisted surgery (VATS) and percutaneous with needle. MATERIAL AND METHODS: Retrospective study of diaphragmatic plication performed in our center in the past three years. Review of clinical histories, analyzing the variables: sex and age, etiology and laterality, surgical indications, technique, ventilation support, complications and outcome. Data Analysis with SPSS 18.0. RESULTS: From 2009-2012, 24 diaphragmatic plication were realized (7 left, 13 right, 2 bilateral) in 22 children (15 males). The mean age was 10.4 months (2 to 23.1). In 68.1% paralysis was secondary to thoracic surgery. In 12 patients was performed VATS and in 5 percutaneous with needle. Surgical indications were: respiratory distress (69.1%) with intercurrent processes (pneumonia, bronchiolitis, and atelectasis) and failure of extubation in 27.3%. After diaphragmatic plication in 90.9% respiratory symptoms remitted. Extubation was accomplished in all patients, requiring ventilator support for 12-96 hours. Mean hospital stay was 7.5 days (3 to 13.5). There were no complications derived from surgery. There were two recurrences (9.2%) and only one was reoperated (4.6%). The percutaneous technique decreased the required postoperative analgesia and improved cosmetic outcome in 90.9%. CONCLUSIONS: The diaphragmatic plication by minimally invasive surgery reduces operative morbidity and facilitates extubation of ventilator-dependent patients with diaphragmatic paralysis. The percutaneous technique improves the cosmetic results and reduces pain after surgery, without finding differences with VATS.

[Role of pediatric urologist in the treatment of congenital adrenal hyperplasia: a study of satisfaction and psychosocial aspects]. / Papel del urólogo pediátrico en el tratamiento de la hiperplasia suprarrenal congénita: estudio de satisfacción y aspectos psicosociales.

OBJECTIVE: Study the role of the pediatric urologist in the treatment of CAH and the satisfaction of families and patients to identify the psychosocial aspects that we can improve. MATERIAL AND METHODS: Retrospective study in girls with CAH treated in our center. We reviewed the medical records, analyzing the variables: place of birth, age at diagnosis, surgery, complications and follow up. Analysis of satisfaction and psychosocial aspects by telephone survey. RESULTS: Between 1975-2011, 25 girls with CAH have been treated in our center. Cystoscopy and vaginoscopy was performed before clitoroplasty in 68% (16 girls), adding vulvovaginoplasty in 40% and vaginal descent in the 20%. The mean age was 8.78 +/- 2.30 months. Vaginal stenosis was the main complication (36%), performing introitus plasty in two girls, vaginal expansion in other 2 and dilation of the rest. 15 surveys were made, all expressed satisfaction with treatment, and only 6.67% reported shortages information. With the aesthetic results of the genitoplasty 20% showed dissatisfaction. The family concern was constant at 60%, and sporadic in the rest. 13.3% required psychological support. Currently 80% have normal psychosocial life. CONCLUSION: The HSC requires a multidisciplinary approach right from birth to allow adequate psychosocial development. The pediatric urologist has an important weight in the multidisciplinary treatment. Realizing early feminizing genitoplasty decreases family impact and increases satisfaction. The prolonged follow-up will allow the detection and treatment of complications.

Estudio de expresión de marcadores de células madre neurales en neuroblastoma y correlación con factores pronóstico / Study of the expression of neural Stem Cell markers in neuroblastoma tumor samples and correlation with prognostic factors

INTRODUCCIÓN: En el neuroblastoma (NB), la existencia de células madre cancerosas (CMC) se ha relacionado con la presencia de metástasis, resistencia al tratamiento quimioterápico y recidiva. Nuestro objetivo es analizar la expresión de marcadores relacionados con proliferación y diferenciación de células progenitoras neurales en muestras de NB, y correlacionarlo con parámetros clínicos, histología, genética y respuesta al tratamiento. MATERIAL Y MÉTODOS: Realizamos un estudio experimental retrospectivo con muestras de neuroblastoma obtenidas mediante biopsia o exéresis tumoral entre 2010 y 2012 en nuestro hospital. Mediante inmunohistoquímica de fluorescencia analizamos la expresión de los marcadores: CD44, CD74, CD133, tirosina hidroxilasa, receptor de endotelina A (REA) y endotelina B (REB), p75, nestina y Phox2b, todos relacionados con la biología de células madre neurales. Posteriormente, relacionamos los niveles de expresión con variables clínicas. RESULTADOS: La expresión de nestina fue positiva en el 72,2% de las muestras y el REA en el 66,7%. Phox2b y CD74 fueron de menor expresión, siendo positiva en menos del 30%. Los marcadores CD44, REB y Phox2b se expresaban en tumores más agresivos. La expresión de REA se correlacionó de forma significativa con tumores de histología desfavorable (p= 0,01), amplificación del N-myc (p= 0,05) y recidiva/ progresión (p= 0,05). [Conclusión] La expresión de CD44, REB y REA se asoció con tumores más agresivos y factores de mal pronóstico. Estos marcadores están presentes en la membrana de células madre neurales, pudiendo ser útiles para identificar y aislar por citometría de flujo las CMCs del NB y para el estudio de nuevas dianas terapéuticas

INTRODUCTION: The existence of cancer stem cells (CSC) in neuroblastoma (NB) has been associated with the development of metastasis, resistance to chemotherapy and recurrence. Our objective is to analyze the expression of proliferation and differentiation markers of neural progenitor cells in NB samples, and to correlate this expression with clinical variables such as histology, genetics and response to conventional therapy. MATERIAL AND METHODS: We performed a retrospective-experimental study with neuroblastoma samples obtained from biopsies or tumor resections between 2010-2012 in our Hospital. Fluorescence immunohistochemistry was used to analyze the expression of the different markers: CD44, CD74, CD133, tyrosine hydroxylase, endothelin receptors type A (ETA) and B (ETB), p75, nestina y and Phox2b, all of them related to neural stem cell biology. The level of expression of the markers was then correlated with clinical variables. [Results] Nestin expression was positive in 72.2% of samples and ETA in 66.7%. PHOX2B and CD74 expression were lower, being positive in less than 30%. The markers CD44, ETB and PHOX2B were expressed in more aggressive tumors. ETA expression correlated significantly with unfavorable histology tumors (p= 0.01), N-myc amplification (p= 0.05) and recurrence/progression (p= 0.05). [Conclusion] The expression of CD44, ETB and ETA was associated with more aggressive tumors and poor prognostic factors. These markers are in the membrane of neural stem cells and may be useful to identify and isolate by flow cytometry CSCs of NB for the study of new therapeutic targets

Impactación esofágica de pilas de botón en la infancia. Cómo evitar la tragedia / Esophageal impaction of button batteries in childhood. How to avoid tragedy

INTRODUCCIÓN: La ingesta de pilas de botón (PB) representa menos del 2% de todos los cuerpos extraños del tacto gastrointestinal, pero su incidencia se ha incrementado en los últimos tiempos. Su impactación esofágica produce daños, que pueden ser devastadores. Nuestro objetivo es presentar 3 nuevos casos de ingesta de pilas de botón y el protocolo de tratamiento seguido en nuestro centro. MATERIAL Y MÉTODOS: Presentamos 3 niñas que acudieron por impactación esofágica de cuerpo extraño, visualizando en la radiografía PB impactadas con el "signo de doble halo" en tercio esofágico superior, medio y bajo respectivamente. El protocolo seguido incluye: radiografía de cuello, tórax y abdomen; dosis altas de corticosteroides, inhibidores de la bomba de protones y antibióticos; endoscopia y extracción urgentes. Se coloca una sonda nasogástrica en el mismo acto quirúrgico. RESULTADOS: En las tres pacientes, la PB había estado impactada 10,3 horas (5-14), pero ya tenían importante inflamación y necrosis de la mucosa esofágica. A los 8±2 días se inició alimentación oral tras estudio esofagogástrico normal, el cual se repitió al mes descartando complicaciones. CONCLUSIÓN: La elaboración y cumplimiento de un protocolo diagnóstico y terapéutico evita las complicaciones derivadas de la impactación esofágica de las pilas de botón. Consideramos la imagen de doble halo patognomónica de las PB

INTRODUCTION: Ingestion of button batteries (PB) represents less than 2% of all foreign bodies, but its incidence is increasing. Esophageal impaction produces severe damages, which can be devastating. Our aim is to present 3 new cases and the therapeutic protocol followed in our center. MATERIAL AND METHODS: We report 3 children who presented es-ophageal foreign body impaction, displaying a PB with the "double halo sign" on the radiograph, being situated in the upper, medium and low esophageal in each case. The protocol followed included: radiography of the neck, chest and abdomen; high doses of corticosteroids, inhibitors of proton pump, antibiotics and urgent endoscopy removal. A nasogastric tube was placed in the same act. RESULTS: The PB had been impacted for 10.3 hours (5-14) but had inflammation and necrosis of the esophageal mucosa. We applied the specified protocol. Oral feeding was initiated 8 ± 2 days after with a normal esophagogastric study, which was repeated a month later to exclude stenosis. CONCLUSION: Adherence to a diagnostic and therapeutic protocol prevents the complications of esophageal impaction of button batteries. We consider the double halo image pathognomonic of the PB

Análisis de efectividad de la plicatura diafragmática mínimamente invasiva / Analysis of efficacy in diaphragmatic plication with minimally invasive surgery

OBJETIVO: La parálisis diafragmática puede ocasionar compromiso respiratorio y dificultad para la extubación. Estudiamos la efectividad de la plicatura diafragmática realizada en sus dos modalidades: asistida por videotoracoscopia (VATS) y plicatura percutánea con aguja. MATERIAL Y MÉTODOS: Estudio retrospectivo de las plicaturas diafragmáticas realizadas en nuestro centro en los últimos 3 años. Revisión de las historias clínicas, analizando las variables: sexo, edad, etiología, lateralidad, indicaciones quirúrgicas, técnica empleada, dependencia de ventilación mecánica, complicaciones y evolución posterior. Análisis de datos con el paquete estadístico SPSS 18.0. RESULTADOS: De 2009 a 2012, se realizaron 24 plicaturas diafragmáticas (7 izquierdas, 13 derechas, 2 bilaterales) en 22 pacientes (15 varones). La edad media fue de 10,4 meses (2-23,1). En el 68,1% la parálisis fue secundaria a una cirugía cardiotorácica previa. En 12 pacientes se realizó plicatura asistida con vidiotoracoscopia y en 5 percutánea con aguja. Las indicaciones quirúrgicas fueron: dificultad respiratoria (69,1%) acompañada de procesos intercurrentes (neumonías, bronquio-litis, atelectasias) e imposibilidad de extubación en el 27,3%. Tras la plicatura diafragmática, en el 90,9% remitieron los síntomas respiratorios, y la extubación se logró en todos los pacientes, precisando soporte ventilatorio de 12-96 horas. La estancia hospitalaria media fue de 7,5 días (3-13,5). No existieron complicaciones derivadas de la cirugía. Hubo dos recidivas (9,2%) y sólo una se reintervino (4,6%). La técnica percutánea disminuyó la analgesia postquirúrgica requerida y mejoró el resultado estético en el 90,9%. CONCLUSIONES: La plicatura diafragmática con cirugía de mínima invasión disminuye la morbilidad operatoria y facilita la extubación de pacientes respirador-dependientes con parálisis diafragmática. La técnica percutánea mejora los resultados estéticos y disminuye el dolor postcirugía, sin encontrarse otras diferencias respecto a la VATS

OBJECTIVE: Diaphragmatic paralysis may result difficulty for respiratory compromise and extubation. We study the effectiveness of diaphragmatic plication held in its two modalities: videothoracoscopy assisted surgery (VATS) and percutaneous with needle. MATERIAL AND METHODS: Retrospective study of diaphragmatic plication performed in our center in the past three years. Review of clinical histories, analyzing the variables: sex and age, etiology and laterality, surgical indications, technique, ventilation support, complications and outcome. Data Analysis with SPSS 18.0. RESULTS: From 2009-2012, 24 diaphragmatic plication were realized (7 left, 13 right, 2 bilateral) in 22 children (15 males). The mean age was 10.4 months (2 to 23.1). In 68.1% paralysis was secondary to thoracic surgery. In 12 patients was performed VATS and in 5 percutaneous with needle. Surgical indications were: respiratory distress (69.1%) with intercurrent processes (pneumonia, bronchiolitis, and atelectasis) and failure of extubation in 27.3%. After diaphragmatic plication in 90.9% respiratory symptoms remitted. Extubation was accomplished in all patients, requiring ventilator support for 12-96 hours. Mean hospital stay was 7.5 days (3 to 13.5). There were no complications derived from surgery. There were two recurrences (9.2%) and only one was reoperated (4.6%). The percutaneous technique decreased the required postoperative analgesia and improved cosmetic outcome in 90.9%. CONCLUSIONS: The diaphragmatic plication by minimally invasive surgery reduces operative morbidity and facilitates extubation of ventilator-dependent patients with diaphragmatic paralysis. The percutaneous technique improves the cosmetic results and reduces pain after surgery, without finding differences with VATS

Papel del urólogo pediátrico en el tratamiento de la hiperplasia suprarrenal congénita: estudio de satisfacción y aspectos psicosociales / Role of pediatric urologist in the treatment of Congenital adrenal hyperplasia: a Study of satisfaction and psychosocial aspects

OBJETIVO: Estudiar el papel del urólogo en el tratamiento de la hiperplasia suprarrenal congénita (HSC) y la satisfacción de familiares y pacientes, para identificar los aspectos psicosociales que podemos mejorar.Material y métodos. Estudio retrospectivo de niñas con HSC tra-tadas en nuestro centro. Revisamos las historias clínicas, analizando las variables: lugar de nacimiento, edad de diagnóstico, cirugía, complica-ciones y seguimiento posterior. Análisis de la satisfacción y psicosocial mediante encuesta telefónica.Resultados. Entre 1975-2011, 25 niñas con HSC han sido tratadas en nuestro centro. Se realizó cistoscopia/vaginoscopia previa clitoro-plastia en el 68% (16 niñas), añadiendo vulvovaginoplastia al 40% y descenso vaginal al 20%. La edad media fue de 8,78±2,30 meses. La estenosis vaginal fue la principal complicación (36%), realizándose introitoplastia en dos niñas, ampliación vaginal en otras 2 y dilataciones en el resto. Se hicieron 15 encuestas, todos manifestaron satisfacción con el tratamiento, sólo el 6,67% refirió escasez de información. Con los resultados estéticos de la genitoplastia un 20% mostraron insatisfacción. La preocupación familiar fue constante en el 60%, siendo esporádica en el resto. El 13,3% requirió apoyo psicológico. Actualmente el 80% llevan una vida psicosocial normal. CONCLUSIÓN: La HSC requiere de un correcto tratamiento multi-disciplinar desde el nacimiento para permitir un adecuado desarrollo psicosocial. El urólogo pediátrico tiene un importante peso en el trata-miento multidisciplinar. Realizando la genitoplastia feminizante precoz disminuye el impacto familiar y aumenta la satisfacción. El seguimiento prolongado permitirá la detección y tratamiento de las complicaciones

OBJECTIVE: Study the role of the pediatric urologist in the treatment of CAH and the satisfaction of families and patients to identify the psychosocial aspects that we can improve. MATERIAL AND METHODS: Retrospective study in girls with CAH treated in our center. We reviewed the medical records, analyzing the variables: place of birth, age at diagnosis, surgery, complications and follow up. Analysis of satisfaction and psychosocial aspects by tel-ephone survey. RESULTS: Between 1975-2011, 25 girls with CAH have been treated in our center. Cystoscopy and vaginoscopy was performed before clito-roplasty in 68% (16 girls), adding vulvovaginoplasty in 40% and vaginal descent in the 20%. The mean age was 8.78 ± 2.30 months. Vaginal stenosis was the main complication (36%), performing introitus plasty in two girls, vaginal expansion in other 2 and dilation of the rest. 15 surveys were made, all expressed satisfaction with treatment, and only 6.67% reported shortages information. With the aesthetic results of the genitoplasty 20% showed dissatisfaction. The family concern was con-stant at 60%, and sporadic in the rest. 13.3% required psychological support. Currently 80% have normal psychosocial life. CONCLUSION: The HSC requires a multidisciplinary approach right from birth to allow adequate psychosocial development. The pediatric urologist has an important weight in the multidisciplinary treatment. Realizing early feminizing genitoplasty decreases family impact and increases satisfaction. The prolonged follow-up will allow the detection and treatment of complications

[Study of the expression of neural stem cell markers in neuroblastoma tumor samples and correlation with prognostic factors]. / Estudio de expresión de marcadores de células madre neurales en neuroblastoma y correlación con factores pronóstico.

INTRODUCTION: The existence of cancer stem cells (CSC) in neuroblastoma (NB) has been associated with the development of metastasis, resistance to chemotherapy and recurrence. Our objective is to analyze the expression of proliferation and differentiation markers of neural progenitor cells in NB samples, and to correlate this expression with clinical variables such as histology, genetics and response to conventional therapy. MATERIAL AND METHODS: We performed a retrospective-experimental study with neuroblastoma samples obtained from biopsies or tumor resections between 2010-2012 in our Hospital. Fluorescence immunohistochemistry was used to analyze the expression of the different markers: CD44, CD74, CD133, tyrosine hydroxylase, endothelin receptors type A (ETA) and B (ETB), p75, nestina y and Phox2b, all of them related to neural stem cell biology. The level of expression of the markers was then correlated with clinical variables. RESULTS: Nestin expression was positive in 72.2% of samples and ETA in 66.7%. PHOX2B and CD74 expression were lower, being positive in less than 30%. The markers CD44, ETB and PHOX2B were expressed in more aggressive tumors. ETA expression correlated significantly with unfavorable histology tumors (p= 0.01), N-myc amplification (p= 0.05) and recurrence/progression (p= 0.05). CONCLUSION: The expression of CD44, ETB and ETA was associated with more aggressive tumors and poor prognostic factors. These markers are in the membrane of neural stem cells and may be useful to identify and isolate by flow cytometry CSCs of NB for the study of new therapeutic targets.

[Esophageal impaction of button batteries in childhood. How to avoid tragedy!]. / Impactación esofágica de pilas de botón en la infancia. Cómo evitar la tragedia!

INTRODUCTION: Ingestion of button batteries (PB) represents less than 2% of all foreign bodies, but its incidence is increasing. Esophageal impaction produces severe damages, which can be devastating. Our aim is to present 3 new cases and the therapeutic protocol followed in our center. MATERIAL AND METHODS: We report 3 children who presented esophageal foreign body impaction, displaying a PB with the "double halo sign" on the radiograph, being situated in the upper, medium and low esophageal in each case. The protocol followed included: radiography of the neck, chest and abdomen; high doses of corticosteroids, inhibitors of proton pump, antibiotics and urgent endoscopy removal. A nasogastric tube was placed in the same act. RESULTS: The PB had been impacted for 10.3 hours (5-14) but had inflammation and necrosis of the esophageal mucosa. We applied the specified protocol. Oral feeding was initiated 8 +/- 2 days after with a normal esophagogastric study, which was repeated a month later to exclude stenosis. CONCLUSION: Adherence to a diagnostic and therapeutic protocol prevents the complications of esophageal impaction of button batteries. We consider the double halo image pathognomonic of the PB.

[Modifiable prognostic factors in the morbidity-mortality of gastroschisis]. / Factores pronósticos modificables en la morbi-mortalidad de la gastrosquisis.

OBJECTIVE: The low incidence of gastroschisis makes impossible a consistently study of the factors that determine its evolution. The presence of other alterations associated is an important determinant of prognosis known. We analyze the factors implicated in morbidity and mortality in our center that can be modified. MATERIAL AND METHODS: We performed a retrospective study from hospital records. We analyzed the morbidity and mortality versus gestational age, mode of delivery, surgery performed, presence of prenatal diagnosis, herniated viscera and associated anomalies. We studied the postoperative differences occurred as a result of implantation of fetal surgery group. The variables were analyzed with SPSS 15.0 using non-parametric test. RESULTS: Since 1987 25 patients have been operated (12 men) with a mean birth weight of 2,328 g +/- 364. The 44% of them had prenatal diagnosis and 72% were born by cesarean. Only 4 had intestinal atresia. Preterm birth (< 36 weeks) did not improve the complications, but did reduce hospital stay in 10.68 days and the time of parenteral nutrition in 6 days. Cesarean delivery and prenatal diagnosis was improved all the previous factors. Primary closure however was associated with higher rates of postsurgical complications (46.2% vs. 18.2%). The 5 patients who died was during the immediate postoperative period, all before developing the fetal diagnostic program. CONCLUSIONS: Prenatal diagnosis and preterm delivery by elective cesarean reduces the complications of gastroschisis. Interdisciplinary coordination is essential to improve the prognosis of these patients.

Hallazgos histológicos y seguimiento clínico de pacientes con mEn 2 tras tiroidectomía profiláctica / Clinical follow up and histological findings of patients With men2 treated With prophylactic thyroidectomy

Objetivo. Presentar nuestra experiencia en el manejo profiláctico mediante tiroidectomía del carcinoma medular tiroideo, revisando la correlación entre los hallazgos clínicos, analíticos, histopatológicos y genéticos en sujetos con síndrome de neoplasia endocrina múltiple tipo 2A (MEN 2A) y carcinoma medular familiar de tiroides (CMFT).materiales y métodos. Estudio retrospectivo mediante revisión de historias clínicas de pacientes con diagnóstico de MEN 2A o CMFT, derivados a nuestra consulta tras consejo genético desde 1997 hasta 2011. Se analizaron las variables sexo, edad al diagnóstico y a la cirugía, valores pre y postoperatorios de calcitonina (y metanefrinas en pacientes con MEN 2A), hallazgos histopatológicos, seguimiento y supervivencia. Resultados. Se identificaron 13 pacientes con antecedentes familiares de CMT, 9 mujeres y 4 varones, 11 portadores de mutación en protooncogén RET para MEN 2A y 2 no portadores (CMFT). La edad media al diagnóstico fue 4,2 años (rango: 1,8-8,2). Todos los pacientes fueron tratados mediante tiroidectomía total con una edad media de 6 años (rango: 4,1-8,5). Los hallazgos histopatológicos demostraron 7 casos de hiperplasia nodular de células C, 2 microcarcinomas, 1 carcinoma multicéntrico, 1 tiroiditis linfocitaria y 2 sin evidencia de enfermedad. La calcitonina preoperatoria estaba elevada en 3 casos, coincidiendo en uno con histopatología de microcarcinoma. Todos los pacientes se encuentran libres de enfermedad.Conclusiones. La tiroidectomía profiláctica precoz es la única herramienta preventiva y curativa para el CMT en pacientes susceptibles genéticamente de padecerlo. Es imprescindible la creación de equipos multidisciplinarios (Endocrinología, Genética Clínica y Cirugía Pediátrica) para el estudio, manejo y seguimiento de los pacientes con MEN 2A y sus familias (AU)

Objective. To present our experience in the prophylactic management of the medullary thyroid carcinoma (MTC), reviewing the correlation between clinical, analytical, histopathological, and genetic findings on subjects with type 2A multiple endocrine neoplasia (MEN 2A) and familial MTC.material and methods. A retrospective study was done by reviewing the medical records of patients diagnosed with MEN 2A or familial MTC, between 1997 and 2011. The variables studied were sex, age at the time of diagnosis, age at the time of surgery, pre and post operative Calcitonin levels, pre and post op Metanephrine levels in patients with MEN 2A, histopathological findings, follow up and overall survival.Results. Thirteen patients were identified with family history of MTC, 9 females and 4 males. Eleven carriers of mutation on RET proto-oncongene for MEN 2A and no carriers for Familial MTC. The median age at the time of diagnosis was 4.2 years (range: 1.8 to 8.2). All patients were treated with total thyroidectomy, with a median age of 6 years (range: 4.08 to 8.5). The histopathological findings demonstrated 7 cases of C-Cells nodular hyperplasia, 2 micro-carcinomas, 1 multicentric carcinoma, 1 lymphocytic thyroiditis and 2 without evidence of disease. Elevated pre operative Calcitonin levels were found in 3 cases, correlated with one histopathological finding of micro-carcinoma. All patients are disease free.Conclusion. In patients with genetic predisposition to suffer the disease, early prophylactic thyroidectomy is the only current available approach to prevent and cure MTC.The creation of a multidisciplinary team (Endocrinology, clinical genetics, and pediatric surgery), is necessary to study, manage and follow up patients with MEN 2A and their families (AU)

Factores pronósticos modificables en la morbi-mortalidad de la gastrosquisis / Modifiable prognostic factors in the morbidity-mortality of gastroschisis

Objetivo. La baja incidencia de la gastrosquisis impide el estudio consistente de los factores que determinan su evolución. La presencia de otras alteraciones asociadas es un factor determinante del pronóstico muy conocido. Queremos analizar los factores implicados en la morbi-mortalidad en nuestro centro, que podamos modificar. Material y métodos. Realizamos un estudio descriptivo retrospectivo a partir de los registros hospitalarios. Analizamos la morbi-mortalidad frente a la edad gestacional, tipo de parto, cirugía realizada, existencia de diagnóstico prenatal, vísceras herniadas y anomalías asociadas. Estudiamos las diferencias postoperatorias acontecidas a raíz de la implantación del grupo de cirugía fetal. Los variables se analizan con SPSS 15.0 utilizando test no paramétricos. Resultados. Desde 1987 se han intervenido 25 pacientes (12 varones), con un peso medio al nacimiento de 2.328 g ± 364. De ellos un 44% presentaban diagnóstico prenatal y el 72% nació por cesárea. Sólo 4 presentaban atresia intestinal. El parto pretérmino (<36 semanas) no mejoró las complicaciones, pero sí redujo la estancia hospitalaria en 10,68 días y el tiempo de nutrición parenteral en 6 días. El parto por cesárea y el diagnóstico prenatal si mejoró todos los factores previos. El cierre primario, sin embargo, se asoció a mayor tasa de complicaciones post-quirúrgicas (46,2% vs. 18,2%).Los 5 pacientes fallecidos fueron, durante el post-operatorio inmediato, todos antes del desarrollo del programa de diagnóstico fetal. Conclusiones. El diagnóstico prenatal y el parto pretérmino por cesárea electiva reducen las complicaciones de las gastrosquisis. Es fundamental la coordinación interdisciplinaria para mejorar el pronóstico de estos pacientes (AU)

Objective. The low incidence of gastroschisis makes impossible a consistently study of the factors that determine its evolution. The presence of other alterations associated is an important determinant of prognosis known. We analyze the factors implicated in morbidity and mortality in our center that can be modified. Material and methods. We performed a retrospective study from hospital records. We analyzed the morbidity and mortality versus gestational age, mode of delivery, surgery performed, presence of prenatal diagnosis, herniated viscera and associated anomalies. We studied the postoperative differences occurred as a result of implantation of fetal surgery group. The variables were analyzed with SPSS 15.0 using non-parametric test. Results. Since 1987 25 patients have been operated (12 men) with a mean birth weight of 2,328 g ± 364. The 44% of them had prenatal diagnosis and 72% were born by cesarean. Only 4 had intestinal atresia. Preterm birth (<36 weeks) did not improve the complications, but did reduce hospital stay in 10.68 days and the time of parenteral nutrition in 6 days. Cesarean delivery and prenatal diagnosis was improved all the previous factors. Primary closure however was associated with higher rates of postsurgical complications (46.2% vs. 18.2%). The 5 patients who died was during the immediate postoperative period, all before developing the fetal diagnostic program. Conclusions. Prenatal diagnosis and preterm delivery by elective cesarean reduces the complications of gastroschisis. Interdisciplinary coordination is essential to improve the prognosis of these patients (AU)

Presentación tardía de estenosis hipertrófica de píloro en la infancia: un caso inusual / Delayed presentation of hypertrophic pyloric stenosis in infants: an unusual case

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[Clinical follow up and histological findings of patients with MEN2 treated with prophylactic thyroidectomy]. / Hallazgos histológicos y seguimiento clínico de pacientes con MEN 2 tras tiroidectomía profiláctica.

OBJECTIVE: To present our experience in the prophylactic management of the medullary thyroid carcinoma (MTC), reviewing the correlation between clinical, analytical, histopathological, and genetic findings on subjects with type 2A multiple endocrine neoplasia (MEN 2A) and familial MTC. MATERIAL AND METHODS: A retrospective study was done by reviewing the medical records of patients diagnosed with MEN 2A or familial MTC, between 1997 and 2011. The variables studied were sex, age at the time of diagnosis, age at the time of surgery, pre and post operative Calcitonin levels, pre and post op Metanephrine levels in patients with MEN 2A, histopathological findings, follow up and overall survival. RESULTS: Thirteen patients were identified with family history of MTC, 9 females and 4 males. Eleven carriers of mutation on RET proto-oncongene for MEN 2A and no carriers for Familial MTC. The median age at the time of diagnosis was 4.2 years (range: 1.8 to 8.2). All patients were treated with total thyroidectomy, with a median age of 6 years (range: 4.08 to 8.5). The histopathological findings demonstrated 7 cases of C-Cells nodular hyperplasia, 2 micro-carcinomas, 1 multicentric carcinoma, 1 lymphocytic thyroiditis and 2 without evidence of disease. Elevated pre operative Calcitonin levels were found in 3 cases, correlated with one histopathological finding of micro-carcinoma. All patients are disease free. CONCLUSION: In patients with genetic predisposition to suffer the disease, early prophylactic thyroidectomy is the only current available approach to prevent and cure MTC. The creation of a multidisciplinary team (Endocrinology, clinical genetics, and pediatric surgery), is necessary to study, manage and follow up patients with MEN 2A and their families.