¿Es imprescindible la tiroidectomía profiláctica inmediata en el carcinoma medular de tiroides familiar? / Is immediate prophylactic thyroidectomy indispensable in familiar medullaty thyroid carcinoma?

Objetivo. Demostrar la importancia de la realización de estudios genéticos a familiares y de la tiroidectomía profiláctica precoz en el manejo del carcinoma medular de tiroides familiar. Material y métodos. Estudio retrospectivo y realización de árboles genealógicos de las familias afectadas de carcinoma medular de tiroides familiar tratadas en nuestro hospital en los últimos años. Estudiamos un total de 7 familias con antecedentes de patología tiroidea maligna sin filiar realizando la detección de la mutación del gen RET en un total de 40 familiares. Se realizó una tiroidectomía total con resección de la cápsula posterior asociada a resección radical modificada de las cadenas ganglionares adyacentes de manera profiláctica en todos los casos en los que se halló la mutación del gen RET Resultados. En todas las familias el caso índice es un paciente con carcinoma medular de tiroides de edad media 37,25 años (rango 23-42).En todos ellos se halló una mutación de exón 11, codón 634 del oncogén RET (MEN 2 A).La mutación del gen fue positiva en 14 de los familiares estudiados, con una edad media de 20 años (rango 7-37). 11 de ellos presentaron ya carcinoma medular de tiroides en el análisis patológico de la pieza quirúrgica. Cinco de los familiares con la mutación positiva eran niños, con una edad media de 11 años (rango7-16), 4 de ellos presentaron áreas demicrocarcinoma en la pieza quirúrgica de la tiroidectomía profilácticay el otro un carcinoma manifiesto con metástasis a distancia. Tras la intervención no se hallaron lesiones del nervio recurrenteni hipoparatiroidismo. Ningún paciente de edad pediátrica asoció feocromocitomaso hiperparatiroidismo hasta el momento. Los niveles de calcitonina permanecen indetectables (<2 pg/ml) en los4 primeros niños, que se encuentran libres de enfermedad. La paciente que presentaba carcinoma medular avanzado se encuentra viva, aunque pendiente de una segunda intervención por persistencia de la enfermedad. Conclusiones. Es imprescindible el estudio genético de los familiares de pacientes con carcinoma medular de tiroides y mutaciones del oncogén RET. La mutación más frecuentemente encontrada se halla en el exón 11,codón 634.La tiroidectomía profiláctica es el único tratamiento curativo y presenta escasas complicaciones en manos de un equipo quirúrgico experto. Dicha tiroidectomía debe realizarse de forma precoz debido a la presencia de lesiones malignas, incluso a edades muy tempranas (AU)

Purpose. To emphasize the importance of genetic studies in family members and early prophylactic thyroidectomy in oncogene mutation carriers in the management of familiar medullary thyroid carcinoma. Methods. A retrospective review of families with familiar medullary thyroid carcinoma treated at our center in the last 7 years was performed. We identified a total of 7 families who has isolated prevalences with thyroid malignancies. Forty members of the 7 families were screened for gene RET mutations. Prophylactic total thyroidectomy was performed in every RET mutation gene carriers. Results. In all families the index case were patients with medullary thyroid carcinoma presenting at a mean age of 37.25 years (range 23-42). The RET oncogen mutation was in codon 634 in exon 11 (multiple endocrine neoplasia type 2A) in all these patients. Fourteen gene carriers were identified with a mean age of 20 years(range 7-37), eleven of whom had medullary thyroid carcinoma at the time of surgery. Five of the gene carriers were children, with a mean age of 11 years(range 7-16), four of whom had microcarcinoma and one had metastatic carcinoma at the time of surgery. After surgery no hypoparathiroidism or recurrent nerve paralysis were documented. No pediatric patient has presented with phaeochromocytoma or hypoparathiroidism to date Four of the five children have normal calcitonin levels (<2 pg/ml)and they are free of disease. The one who presented metastatic carcinoma has recurrent disease and is awaiting surgical treatment. Conclusions. Genetic studies of family members related to patients with familiar medullary thyroid carcinoma and RET mutations is indispensable. The RET mutation in codon 634 exon 11 was found to be the most frequent association. Prophylactic thyroidectomy is the only curative treatment and has minimal complications when performed by expert surgeons. Early thyroidectomy is recommended since distant metastatic spread can occur at early age (AU)

Catéter temporal al inicio de diálisis: indicador de calidad en los cuidados pre-diálisis / Temporary catheter at dialysis onset: quality indicator of pre-dialysis care

No disponible

No disponible

Larga vida al acceso vascular permanente para hemodiálisis / Long life to the vascular access for hemodialysis

No disponible

Non-viral liposomal keratinocyte growth factor (KGF) cDNA gene transfer improves dermal and epidermal regeneration through stimulation of epithelial and mesenchymal factors.

Keratinocyte growth factor (KGF) stimulates epithelial cell differentiation and proliferation, which are of major importance for wound healing. Local protein administration, however, has been shown to be ineffective due to enzymes and proteases in the wound fluid. We hypothesized that delivering KGF as a non-viral liposomal cDNA gene complex is a new approach that would effectively enhance dermal and epidermal regeneration. Twenty-two rats were given an acute wound and divided into two groups to receive weekly subcutaneous injections of liposomes plus the LacZ gene (0.2 microg, vehicle), or liposomes plus the KGF cDNA (2.2 microg) and LacZ cDNA (0.2 microg). Transfection was confirmed by histochemical assays for beta-galactosidase. Planimetry, histological and immunohistochemical techniques were used to determine protein expression, dermal and epidermal regeneration. Transfection and subsequent KGF expression was found in diving cells in the granulation tissue. Epidermal regeneration was improved by 170% in rats receiving the KGF cDNA constructs by exhibiting the most rapid area and linear wound re-epithelialization, P < 0.0001. KGF improved epidermal cell net balance by increasing skin cell proliferation and decreasing skin cell apoptosis, P < 0.0001. Dermal regeneration was further improved in KGF cDNA treated animals by an increased collagen deposition and morphology, P < 0.0001. KGF cDNA increased neo-vascularization and concomitant VEGF concentrations when compared with vehicle, P < 0.01. KGF cDNA did not only stimulate epithelial cells, but also mesenchymal cells through increases in IGF-I concentration, P < 0.005. Liposomes containing the KGF cDNA gene constructs were effective in improving epidermal and dermal regeneration. KGF gene transfer to acute wounds may represent a new therapeutic strategy to enhance wound healing.