Resultados del tratamiento quirúrgico de úlceras por presión mediante colgajos locales / Outcomes of Surgical Treatment of Pressure Ulcers Using Local Flaps

RESUMEN Introducción: Las úlceras por presión son soluciones de continuidad que aparecen en la piel que cubre las prominencias óseas, cuando estas soportan una presión externa continuada que interfiere con la circulación sanguínea correcta y la nutrición de los tejidos. Objetiv o: Evaluar los resultados del tratamiento quirúrgico de las úlceras por presión mediante los diferentes tipos de colgajos locales. Métodos: Se realizó un estudio descriptivo, ambispectivo y de corte longitudinal. El universo estuvo conformado por todos los pacientes que presentaron diagnóstico de úlcera por presión con criterio quirúrgico. La muestra fueron 72 pacientes constituyendo un total de 84 úlceras por presión, que cumplieron con los criterios de inclusión. Resultados: El sexo masculino predominó en el estudio; con rango de edad entre 19 y 29 años. Las úlceras sacras fueron las más frecuentes y de mayor tamaño y el colgajo más utilizado para el cierre fue el de rotación y avance. Se obtuvo un resultado satisfactorio en el 82,5 por ciento de los casos. Conclusiones: Se logró una adecuada cobertura tisular y almohadillado de la zona, además de ausencia de complicaciones que interfirieran con el resultado final(AU)

ABSTRACT Introduction: Pressure ulcers are continuity solutions that appear on the skin that covers bony prominences, when these bear continuous external pressure that interferes with correct blood circulation and nutrition of tissues. Objective: To evaluate the outcomes of surgical treatment of pressure ulcers using different types of local flaps. Methods: A descriptive, ambispective and longitudinal study was carried out. The population consisted of all the patients who presented diagnosis of pressure ulcer with surgical criteria. The sample consisted of 72 patients, with a total of 84 pressure ulcers, who met the inclusion criteria. Results: The male sex predominated in the study, together with the age range 19-29 years. Sacral ulcers were the most frequent and largest, and the most used flap for closure was the rotation and advancement flap. Satisfactory outcomes were obtained in 82.5 percent of the cases. Conclusions: Adequate tissue coverage and padding of the area was achieved, as well as the absence of complications that interfered with the final outcomes(AU)

A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome

The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by next-generation DNA sequencing platforms. Nevertheless, a comprehensive genetic diagnosis method remains yet unavailable for these diseases. In the current research, an 8-year-old boy with short stature and developmental delay impairment, from a nonconsanguineous family, was referred to our genetic lab. Firstly, based on the physician recommendation, the patient was evaluated by tandem mass spectrometry (MS/MS) for the quantitative examination of amino acids, and then the patient was genetically investigated by karyotype analysis and whole-exome sequencing (WES) technique. Subsequently, targeted Sanger sequencing was applied to confirm the presence of the candidate variant in all the members of the family and screening the other patients for Troyer syndrome. Analysis of inherited metabolic disorders by tandem MS/MS showed the state of all the family members as normal and also karyotyping indicated no chromosomal aberration in the patient. Further investigation by WES technique indicated a homozygous missense variant in the SPG20 gene, c.1006C[T. Targeted sequencing result of the mutation confirmed homozygote state for the affected case and a heterozygote genotype for his parents. The mutation was classified as pathogenic. Detection of novel variants especially pathogenic variant in the SPG20 gene was associated with Troyer syndrome, which encodes a multifunctional protein termed Spartin, assist in improving genotype–phenotype correlation of genetic variants and may facilitate initial diagnosis of Troyer syndrome