Hyperkalemic periodic paralysis : case report with a scna4 gene mutation and literature review

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.Revista Internacional - Indexad

Public Health as a Cornerstone for the Education of Health Professionals in Colombia

16 páginasABSTRACT Introduction: Medical education in Colombia has been a widely debated topic and has required multiple changes. Currently, several organizations worldwide are responsible for formulating recommendations to improve medical education and comprehensive care for people, being public health the cornerstone of the process. Objective: To identify the importance of public health in the educational process of Colombian health professionals. Development: The potential of medical education to create recommendations that promote comprehensive care, human quality and strategies for improving the health of the population within the process must be recognized based on the importance of including public health during undergraduate formation, which prospectively allows health professional an adequate and appropriate training for their working life, as well as the knowledge of the needs of the population and the possibility of anticipating them through the use of primary health care. Conclusions: In order to favor the different levels of prevention, from the promotion of health and public policies, the inequality gaps in health are reduced based on the social determinants of health. Likewise, there must be a balance between the traditional biomedical model and the social approach of the health professions, since the life of the average medical student is mostly within a hospital setting, which fosters the idea of hospitalocentrist model and set aside the comprehensive perspective.Introducción: La educación médica en Colombia ha sido un tema ampliamente debatido y que han requerido múltiples cambios. En la actualidad, se encuentran diversas organizaciones a nivel mundial que se encargan de la formulación de recomendaciones para mejorar la educación médica y la atención integral a las personas, con la salud pública como piedra angular del proceso. Objetivo: Identificar la importancia de la Salud Pública en el proceso educativo de los profesionales de la salud colombianos. Desarrollo: El potencial de la educación médica para crear recomendaciones que promuevan la atención integral, la calidad humana y las estrategias para mejorar la salud de la población dentro del proceso, debe ser reconocido desde la importancia de incluir a la salud pública durante el pregrado, lo que prospectivamente le permite al profesional de la salud una adecuada y apropiada preparación para su vida laboral, así como el conocimiento de las necesidades de la población y la posibilidad de anticiparse a estas por medio del uso de la atención primaria de salud. Conclusiones: Con el fin de favorecer los diferentes niveles de prevención, desde la promoción de la salud y las políticas públicas, se disminuyen las brechas de inequidad en salud desde los determinantes sociales en salud. Asimismo, debe existir un equilibrio entre el modelo biomédico tradicional y el enfoque social de las profesiones de la salud, ya que la vida del estudiante promedio de medicina se encuentra, en su mayoría, dentro de un escenario hospitalario, lo que propicia la idea del modelo hospitalocentrista y deja de lado la mirada integral

Prevalence of fractures in children with Cerebral Palsy. Cross-sectional Cohort Study

Introducción: La parálisis cerebral (PC) es un grupo de trastornos no progresivos del movimiento y la postura que se produce como resultado de una lesión en el cerebro durante el desarrollo. Se asocia a fracturas afectando la región supracondílea del fémur principalmente. El objetivo general de este estudio fue determinar cuál es la prevalencia de fracturas en niños con PC en el Instituto Roosevelt entre Enero y Diciembre de 2017. Materiales y métodos: Se realizó un estudio descriptivo de corte transversal teniendo como variables la edad, sexo, nivel funcional (GMFCS), uso de anticonvulsivantes y presencia de gastrostomía, siendo el desenlace la presencia de fractura. Resultados: Se identificaron 648 pacientes con parálisis cerebral dentro de los cuales un total de 5 pacientes presentaron fracturas para una prevalencia calculada de 0.0187, todas fueron localizadas en la región supracondílea del fémur. Dos pacientes (40%) recibieron manejo ortopédico y tres pacientes (60%) manejo quirúrgico con osteosíntesis. 2 pacientes (40%) presentaban GMFCS I, 1 paciente (20%) GMFCS II y 2 pacientes (40%) GMFCS V. Ningún paciente tenía gastrostomía ni recibía anticonvulsivantes. Discusión: La incidencia de fracturas en la población a estudio fue más baja que lo reportado en la literatura, la región supracondílea del fémur fue la más afectada en el presente estudio, sin complicaciones en el seguimiento. No se identificó asociación con gastrostomía ni uso de anticonvulsivantes. Nivel de Evidencia: IIINiños con parálisis cerebralBackground: Cerebral palsy (CP) is a group of non-progressive movement and posture disorders that occurs as a result of an injury to the brain during development. It is associated with fractures mainly affecting the supracondylar region of the femur. The general objective of thestudy was to determine the prevalence of fractures in children with CP at the Roosevelt Institute between January and December 2017. Methods: A descriptive cross-sectional study was carried out taking as variables age, sex, functional level (GMFCS), use of anticonvulsants and presence of gastrostomy, defining the outcome as the presence of fracture. Results 648 patients with cerebral palsy were identified, within which a total of 5 patients presented fractures for a calculated prevalence of 0.0187, all were located in the supracondylar region of the femur. Two patients (40%) received orthopedic management and three patients (60%) surgical management with osteosynthesis. Two patients (40%) presented GMFCS I, 1 patient (20%) GMFCS II and 2 patients (40%) GMFCS V. No patient had a gastrostomy or received anticonvulsants. Discussion: The incidence of fractures in the study population was lower than that reported in the literature, the supracondylar region of the femur was the most affected in the present study, without complications during follow-up. No association with gastrostomy or use of anticonvulsants was identified. Evidence Level: IIIhttps://orcid.org/0000-0003-4913-7764https://orcid.org/0000-0002-6405-5030Revista Nacional - IndexadaN

Ponseti Method versus surgical treatment in a teenage girl with neglected clubfoot: a case report

Introduction: Congenital clubfoot is the most common foot deformity. It affects 1 - 7/1000 live births. Clubfoot is considered neglected when it has not been treated before the child walks. The treatment of choice in these patients is usually the correction of the deformity with external fixation. However, this treatment is not exempt from complications and does not restore the anatomy. Case: Sixteen years-old female with neglected bilateral clubfoot underwent extended posterior internal release and gradual correction with an external fixator on her right foot. Due to the poor results and tolerance to the surgical treatment of the right foot, she underwent the Ponseti Method on her left foot. Gait analysis was performed six months after the treatment was completed. The joint relations were closer to normal in the limb treated with the Ponseti method, and the gait pattern was similar in both feet. Conclusion: The Ponseti method is a treatment option for neglected clubfoot even in skeletally mature patients. This technique has not only been shown to restore foot anatomy and reduce the risk of overcorrection. It is also better tolerated by the patient and brings lower costs to the health insurance system