[Poland's syndrome and free autologous fat grafts]. / Síndrome de Poland e injertos libres de grasa autóloga.

OBJECTIVE: To evaluate the final reconstructive results in 6 cases of female Poland syndrome treated in a first stage with an anatomical high cohesive breast implants and in a second stage with free autologous fat grafts. METHODS: Six females were submitted to bilateral breast reconstruction. The reconstruction was done using anatomical breast implants as first step and after 11 to 18 months the free autologous fat grafting using the Coleman technique as well as treating the contralateral breast to achieve a better symmetry and volume. Photographies taken pre and postoperatively and the Foucras Classification were used to determine volume. Four months after the last surgery the patients answered a satisfaction questionnaire. RESULTS: In all 6 patients there was an improvement of the thoracic contour a year after the last surgery in terms of volume, projection and width of the breast. CONCLUSIONS: The use of free autologous fat grafts improves the results in cases of Poland's syndrome previously treated with breast implants making possible to correct the anterior axillary fold, projection and symmetry with a versatile method, with a low morbidity rate, allowing for a personalized treatment.

[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder]. / La enfermedad de Hirschsprung y el carcinoma medular de tiroides: dos enfermedades en una alteración monogénica.

INTRODUCTION: The most common gene involved in Hirschsprung's disease (HD) is protooncogene RET. More than 100 mutations of this gene have been described associated with HD. The mutations that change a cysteine with another aminoacid (mainly in exons 10 and 11) give a risk of familial medullary thyroid carcinoma (FTMC) and MEN 2A. These mutations are found in 5% of patients with HD and have an autosomal dominant inheritance. The FTMC is aggressive and the prophylactic thyroidectomy is the best treatment. We present our results in screening for RET protooncogene mutations associated with TMC in patients with HD. PATIENTS AND METHODS: We have treated 40 patients with HD in the last 15 years. We have classified the patients into two groups: A) high risk of RET protooncogene mutation associated with FTMC (family history of HD, long-segment and/or associated syndromes) and B) low risk (rectosigmoid involvement). We have identified the exons 7, 8, 9, 10, 11, 13, 14 and 15 of the RET protooncogene in 12 of 15 children from group A and 6 from 25 from group B. RESULTS: We have found the p.Cys620Ser mutation (exon 10) in a girl from group A (long-segment). In the family study, we have found the same mutation in her mother, her oncle and her cousin. CONCLUSION: The comprehensive management of children with HD requires screening for RET protooncogene mutations associated with FTMC. In the first-degree relatives of children with a mutation risk, screening is required.

La enfermedad de Hirschsprung y el carcinoma medular de tiroides: dos enfermedades en una alteración monogénica / Hirschsprung’s disease and medullary carcinoma of the thyroids: Two diseases in a monogenetic disorder

Introducción. Las mutaciones del protooncogén RET son las más frecuentes en la enfermedad de Hirschsprung (EH). Hay descritas más de 100 mutaciones de este gen asociadas a EH, pero aquellas en que el error reemplaza una cisteína por otro aminoácido (principalmente en exones 10 y 11) presentan riesgo de MEN 2A y carcinoma medular de tiroides familiar (CMTF). Estas mutaciones de riesgo se hallan en un 5% de los pacientes con EH y presentan una herencia autosómica dominante. El CMTF tiene un comportamiento agresivo y la tiroidectomía profiláctica es el mejor tratamiento. Presentamos nuestros resultados en el cribado de las mutaciones del gen RET asociado a CMT en pacientes afectos de EH. Pacientes y método. Se han tratado en nuestro hospital 40 pacientes con EH en los últimos 15 años. Hemos clasificado a los pacientes en dos grupos: A) alto riesgo de mutación del gen RET asociada a CMTF (antecedentes familiares de EH, segmento largo y/o síndromes asociados) y B) bajo riesgo (afectación rectosigmo idea exclusiva).Se han determinado los exones 7, 8, 9, 10, 11, 13, 14 y 15 del protooncogén RET en 12/15 niños del grupo A y en 6/25 del grupo B. Resultados. Una niña del grupo A presenta la mutación p.Cys620Ser (exón 10). En el estudio familiar se ha encontrado esta misma mutación en la madre, el tío materno y una de sus hijas. Conclusiones. El manejo integral de los niños con EH exige el despistaje de mutaciones del gen RET asociadas a CMTF. En los familiares de primer grado de los niños con una mutación de riesgo, el cribado es obligatorio (AU)

Introduction. The most common gene involved in Hirschsprung’s disease (HD) is protooncogene RET. More than 100 mutations of this gene have been described associated with HD. The mutations that change a cysteine with another aminoacid (mainly in exons 10 and 11) give a risk of familial medullary thyroid carcinoma (FTMC) and MEN 2A. These mutations are found in 5% of patients with HD and have an autosomal dominant inheritance. The FTMC is aggressive and the prophylactic thyroidectomy is the best treatment. We present our results in screening for RET protooncogene mutations associated with TMC in patients with HD. Patients and methods. We have treated 40 patients with HD in the last 15 years. We have classifi ed the patients into two groups: A) high risk of RET protooncogene mutation associated with FTMC (family history of HD, long-segment and/or associated syndromes) and B) low risk (rectosigmoid involvement).We have identified the exons 7, 8, 9, 10, 11, 13, 14 and 15 of the RET protooncogene in 12 of 15 children from group A and 6 from 25 from group B. Results. We have found the p.Cys620Ser mutation (exon 10) in a girl from group A (long-segment). In the family study, we have found the same mutation in her mother, her oncle and her cousin. Conclusion. The comprehensive management of children with HD requires screening for RET protooncogene mutations associated with FTMC. In the fi rst-degree relatives of children with a mutation risk, screening is required (AU)

[Treatment of chronic ischial ulcer in the pediatric patient refractory to conventional treatments]. / Tratamiento de la úlcera crónica isquiática en el paciente pediátrico refractaria a medidas convencionales.

BACKGROUND: Pressure ulcers are an emerging disease, due to survival increase of pediatric patients at risk (myelomeningocele, infantile cerebral paralysis, paraplegic, prematures with neurological sequelae, etc.), including as well, long time staging patients at intensive care units. OBJECTIVES: Provide for long-term treatment to pressure ulcer refractory to debridement procedures. METHODS: We used the biceps femoris muscular flap technique associated with fasciocutaneous flap in two patients, 16 year-olded, with tetraparesis secondary to cerebral palsy and, another 18 year-olded, with myelomeningocele sequelae. Both had sciatic ulcers refractory to treatment, 2 and 3 years evolutioned, respectively. RESULTS: The outcome was excellent in both cases, with definitive healing of the ulcer and no recurrence during one and two month follow-up. CONCLUSIONS: This technique, used in adults, can be applied to pediatric patients if no possibility of wandering. Muscle acts as a cuff between bone and skin and provides coating to the zone suffering pressure as an hypervascularized and no-functioning for active movement structure, but feasible in terms of trophism.

Vasculitis cerebral asociada a colitis ulcerosa / Cerebral vasculitis associated with ulcerative colitis

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[Videothoracoscopy, laparoscopy and minimal-access surgery]. / Videotoracoscopia, laparoscopia y cirugía de mínimo acceso.

Since we start our way in endoscopic surgery, a total of 101 procedures (93 by laparoscopy and 8 by thoracoscopy) have been performed. In two cases (splenectomy, lobectomy) the combination with a minimal enlargement of the wall incision let us remove the entire piece and reduce the operatory time. This is the review of our experience. While the 51.5% of the cases concern to the genitourinary system, the 40.5% of the pathology was digestive and only the 8% was thoracic. The age of the patients ranged between 20 days and 17 years with a clear predominance of the boys. Absence of complications and a high grade of success should do laparoscopy and thoracoscopy frequent surgical procedures in any department of pediatric surgery.

[Acute intestinal invagination: hydrostatic reduction vs. pneumatic reduction]. / Invaginación intestinal aguda: reducción hidrostática versus reducción neumática.

We report the results of 100 cases of acute intussusception treated by inflation of the colon with air under controlled pressure. We compare this method with the traditional one and we analyse the advantages of each method. Successful reduction was achieved in 76% of the cases of intussusception treated with a barium enema and in 88% of the cases treated with an air enema. Pneumocolon in the treatment of acute intestinal intussusception is an alternative method that is very effective and with additional advantages such as: less radiation, less cost and less morbidity in case of perforation.