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1.
JOURNAL OF RARE DISEASES ; (4): 483-491, 2023.
Article in English | WPRIM | ID: wpr-1004923

ABSTRACT

Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature. Spinal stenosis and thoracolumbar kyphosis (TLK) are common findings in ACH patients. Severe TLK can exacerbate spinal stenosis, leading to neurological complications. This paper provides a brief review of the pathophysiological mechanisms, clinical characteristics, and treatments for spinal stenosis and TLK in ACH patients. Recently, three new drugs targeting FGFR3; vosoritide, recifercept, and infigratinib, have completed or are undergoing clinical trials. They have shown promising preliminary results in preventing spinal stenosis and TLK.

2.
Rev. cuba. ortop. traumatol ; 36(2): e528, abr.-jun. 2022. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1409057

ABSTRACT

RESUMEN Introducción: Actualmente la salud es concebida como un derecho fundamental y para garantizarlo se debe propender por una adecuada formación de los profesionales de la salud. El internado rotatorio es la última etapa y la más importante del pregrado en Medicina. Objetivo: Explorar los factores desde la perspectiva de estudiantes y docentes, que influyen en el desarrollo de competencias en la rotación de Ortopedia y Traumatología durante el internado médico. Métodos: Estudio cualitativo con enfoque en teoría fundamentada. Para la recolección de datos se realizó un cuestionario semiestructurado a una muestra aleatoria de 14 participantes, 7 estudiantes y 7 docentes, que cumplían los criterios de inclusión. El análisis se basó en la codificación y categorización de los datos que posteriormente fueron sometidos a un proceso de triangulación para lograr la teorización final. Resultados: Los factores que favorecen el desarrollo de competencias están relacionados con la motivación intrínseca del estudiante, la flexibilidad y disponibilidad de recursos académicos, las características del programa de la rotación y el ambiente de práctica. Se identificaron como factores limitantes aquellos asociados a una formación deficiente en ciencias básicas médicas, la priorización del componente asistencial sobre el académico, la disponibilidad limitada de espacios y recursos de aprendizaje y los métodos de enseñanza tradicionales. Conclusiones: Es de vital importancia la identificación de los factores que favorecen y limitan el desarrollo de las competencias de los estudiantes de medicina en su última etapa de formación en ortopedia.


ABSTRACT Introduction: Few areas of orthopedic surgery have had such important technical changes in recent decades as in corrective spinal surgery. Fundamental changes have come with the new spinal instrumentation systems, which have been substantially modified and improved to facilitate three-dimensional correction of the deformity and provide secure spinal fixation, correction and stability. Objective: To evaluate the results achieved with the spinal instrumentation systems used in the correction of thoracolumbar kyphosis due to ankylosing spondylitis. Methods: A descriptive, retrospective and longitudinal study was carried out on 16 patients with thoracolumbar kyphosis due to ankylosing spondylitis operated on with the pedicle subtraction osteotomy technique and instrumented with Luque-type pedicle and sublaminar systems, in the Orthopedics service at Hermanos Ameijeiras Surgical Clinical Hospital, from March 2001 to March 2021. Results: All the patients were male, white skin color and average age of 39 years. More than 80% correction was achieved in the sagittal profile and an average of 34.3° per osteotomy, without major neurological complications. Good functional results were obtained, with high degree of patient satisfaction and improvement in their quality of life. Conclusions: The use of both spinal instrumentation systems is effective in maintaining the correction of thoracolumbar kyphosis due to ankylosing spondylitis.


Subject(s)
Humans , Professional Competence , Teaching/education , Education, Medical, Undergraduate/trends , Internship and Residency , Orthopedics/education , Traumatology/education , Evaluation Studies as Topic
3.
Rev. cuba. ortop. traumatol ; 36(2): e567, abr.-jun. 2022. ilus, tab
Article in Spanish | LILACS, CUMED | ID: biblio-1409055

ABSTRACT

Introducción: En pocas áreas de la cirugía ortopédica se han producido cambios técnicos tan importantes en las últimas décadas como en la cirugía correctora espinal. Los cambios fundamentales han sobrevenido con los nuevos sistemas de instrumentación espinal, que se han modificado y mejorado sustancialmente para facilitar la corrección tridimensional de la deformidad y aportar fijación segura de la columna, corrección y estabilidad. Objetivo: Evaluar los resultados alcanzados con los sistemas de instrumentación espinal utilizados en la corrección de la cifosis toracolumbar por espondilitis anquilopoyética. Método: Se realizó un estudio tipo descriptivo, retrospectivo y longitudinal a 16 pacientes con cifosis toracolumbar por espondilitis anquilopoyética intervenidos con la técnica de osteotomía de sustracción pedicular e instrumentados con sistemas pediculares y sublaminar tipo Luque, en el servicio de Ortopedia del Hospital Clínico Quirúrgico Hermanos Ameijeiras, durante el período comprendido entre marzo de 2001 y marzo de 2021. Resultados: La totalidad de los pacientes correspondieron al sexo masculino, color de la piel blanca y edad promedio de 39 años. Se logró más del 80 por ciento de corrección en el perfil sagital y un promedio de 34,3° por osteotomía, sin complicaciones neurológicas mayores. Se obtuvo un buen resultado funcional, con un alto grado de satisfacción de los pacientes y mejora de su calidad de vida. Conclusiones: La utilización de ambos sistemas instrumentación espinal es eficaz para mantener la corrección de la cifosis toracolumbar por espondilitis anquilopoyética(AU)


Introduction: Few areas of orthopedic surgery have had such important technical changes in recent decades as in corrective spinal surgery. Fundamental changes have come with the new spinal instrumentation systems, which have been substantially modified and improved to facilitate three-dimensional correction of the deformity and provide secure spinal fixation, correction and stability. Objective: To evaluate the results achieved with the spinal instrumentation systems used in the correction of thoracolumbar kyphosis due to ankylosing spondylitis. Methods: A descriptive, retrospective and longitudinal study was carried out on 16 patients with thoracolumbar kyphosis due to ankylosing spondylitis operated on with the pedicle subtraction osteotomy technique and instrumented with Luque-type pedicle and sublaminar systems, in the Orthopedics service at Hermanos Ameijeiras Surgical Clinical Hospital, from March 2001 to March 2021. Results: All the patients were male, white skin color and average age of 39 years. More than 80 percent correction was achieved in the sagittal profile and an average of 34.3° per osteotomy, without major neurological complications. Good functional results were obtained, with high degree of patient satisfaction and improvement in their quality of life. Conclusions: The use of both spinal instrumentation systems is effective in maintaining the correction of thoracolumbar kyphosis due to ankylosing spondylitis(AU)


Subject(s)
Humans , Adult , Middle Aged , Osteotomy/instrumentation , Spondylitis, Ankylosing/surgery , Kyphosis/surgery , Epidemiology, Descriptive , Retrospective Studies , Longitudinal Studies
4.
Journal of Korean Society of Spine Surgery ; : 76-83, 2019.
Article in Korean | WPRIM | ID: wpr-765636

ABSTRACT

STUDY DESIGN: Retrospective study. OBJECTIVES: The purpose of this study was to assess the effect of sagittal spino-pelvic alignment on the clinical symptoms of thoracolumbar kyphosis (TLK; T10-L2 Cobb's angle >20°) in osteoporotic patients. SUMMARY OF LITERATURE REVIEW: Few studies have investigated the clinical symptoms and radiological features of TLK caused by degenerative changes. There is also controversy over whether clinical symptoms will deteriorate in patients with TLK or which treatment should be chosen according to the degree of TLK. MATERIALS AND METHODS: From May 2005 to May 2016, we reviewed 75 patients who were diagnosed with TLK (T10-L2 Cobb's angle >20°) and osteoporosis. Patients were excluded from the study if they had neurological symptoms, underlying spinal disorders, or unstable vertebral fractures. Fifty patients with TLK due to an osteoporotic vertebral compression fracture (group F) and 25 patients with senile TLK (group S) were assessed by clinical symptoms and radiological parameters. Thoracolumbar kyphosis angle and sagittal vertical axis (SVA) were also analyzed. Clinical symptoms were assessed using a visual analogue scale (VAS) and the Oswestry Disability Index (ODI). RESULTS: There were no significant differences in clinical symptoms (VAS, ODI) and radiological parameters between groups F and S, or according to the degree of TLK(20°–30°, 30°–40°, >40°). Clinical symptoms were significantly more severe in patients with sagittal imbalance (SVA >5 cm) than in those with sagittal balance. CONCLUSIONS: Sagittal imbalance is a more important factor affecting clinical symptoms than the cause or the degree of TLK. Therefore, sagittal imbalance should be considered in the management of TLK in osteoporotic patients.


Subject(s)
Humans , Fractures, Compression , Kyphosis , Osteoporosis , Retrospective Studies
5.
Journal of Korean Society of Spine Surgery ; : 375-379, 2005.
Article in Korean | WPRIM | ID: wpr-56657

ABSTRACT

Achondroplasia is abnormal intracartilagenous ossification that's caused by a genetic point mutation. Thoracic myelopathy in achondroplasia that is due to thoracolumbar kyphosis and spinal stenosis is a rare finding. There is no report available on this topic in Korea. We report here a case of achondroplasia with thoracic myelopathy due to thoracolumbar kyphosis and spinal stenosis, and we include a brief review of literature.


Subject(s)
Achondroplasia , Korea , Kyphosis , Point Mutation , Spinal Cord Diseases , Spinal Stenosis
6.
Journal of Korean Society of Spine Surgery ; : 639-646, 2000.
Article in Korean | WPRIM | ID: wpr-167562

ABSTRACT

PURPOSE: This is a retrospective study evaluating the efficacy of posterior thoraco-lumbar interbody fusion for the treatment of thoraco-lumbar kyphotic deformity. MATERIALS AND METHODS: A posterior thoraco-lumbar interbody fusion was performed in 10 patients with thoracolumbar kyphotic deformity from April 1996 to April 1999. The mean age was 39.5 years (range 16 ~59 years), and five were male and five were female. The cause of deformity was tuberculous spondylitis in 7 cases, post-traumatic kyphosis in 2 cases, and ankylosing spondylitis in 1 case. Three cases involved thoracic spine alone, 3 cases involved thoracolumbar junction, and 4 cases involved lumbar spine alone. The chief complaint was lower back pain in 6 cases, progression of deformity in 2 cases, and both type in 2 cases. There was no patients with neurologic symptoms or signs. The average postoperative follow-up period was 19.5 months (range 12~33 months) RESULTS: By standard Cobb measurement, the mean preoperative kyphosis of 43.7 degrees was reduced to 19.3 degrees in the immediate postoperation and to 22.5 degrees in the last follow-up. Mean correction rate was 51.4% and average loss of correction was 3.2 degrees. Interbody fusion was achieved in 9 cases out of 10 by criteria of Lee et al. Clinical results such as back pain, fatigue pain, and tingling sensation were improved in 8 cases out of 10 by criteria of Lin et al. Nine patients were satisfied with the correction of the deformity. Mean operation time was 255 minutes and average amount of transfusion was 1400 ml(3.5 pints) of packed red cell. There was no serious complications like paraplegia or death. CONCLUSION: A posterior thoraco-lumbar interbody fusion is a relatively easy, safe and good-outcome technique for treatment of moderate thoraco-lumbar kyphotic deformity


Subject(s)
Female , Humans , Male , Back Pain , Congenital Abnormalities , Fatigue , Follow-Up Studies , Kyphosis , Low Back Pain , Neurologic Manifestations , Paraplegia , Retrospective Studies , Sensation , Spine , Spondylitis , Spondylitis, Ankylosing
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