RESUMEN
When assessing a patient with knee osteoarthritis (OA), a number of factors are considered to guide treatment plan, namely, demographic, radiographic, clinical, musculoskeletal, and biomechanical factors. The aim of this study is to identify which of these factors are the most related to each other to potentially better prioritize the modifiable factors to be addressed as they may influence treatment outcomes. We investigated a multimodal canonical correlation analysis to evaluate associations between these factors. The analysis was performed on 415 OA patients who were not candidates for knee arthroplasty, to identify factors that are associated to the patients' clinical conditions.
Asunto(s)
Artroplastia de Reemplazo de Rodilla , Osteoartritis de la Rodilla , Humanos , Osteoartritis de la Rodilla/terapia , Osteoartritis de la Rodilla/cirugía , Resultado del Tratamiento , Toma de DecisionesRESUMEN
Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN). Mitochondrial DNA could be considered as a candidate modiï¬er factor for FRDA disease, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of this disease. We screened the FXN, POLG1 and C10orf2 genes in a Tunisian patient with clinical features of Friedreich's ataxia-like. The results showed the absence of the expansion of a GAA triplet repeat in intron 1 of the FXN gene. Besides, the sequencing of all the exons and their flanking regions of the FXN, POLG1 and C10orf2 genes revealed the presence of intronic polymorphisms. In addition, screening of the mtDNA revealed the presence of several mitochondrial known variations and the absence of mitochondrial deletions in this patient. The detected m.16187C>T and the m.16189T>C change the order of the homopolymeric tract of cytosines between 16184 and 16193 in the mitochondrial D-loop and could lead to a mitochondrial dysfunction by inhibiting replication and affecting protein involved in the replication process of the mtDNA which could be responsible for the clinical features of Friedreich ataxia observed in the studied patient.
Asunto(s)
ADN Mitocondrial/genética , Enfermedades Mitocondriales/genética , Degeneraciones Espinocerebelosas/genética , Adolescente , Consanguinidad , ADN Helicasas/genética , Análisis Mutacional de ADN , ADN Polimerasa gamma , Replicación del ADN , ADN Polimerasa Dirigida por ADN/genética , Diagnóstico Diferencial , Vacuna contra Difteria, Tétanos y Tos Ferina , Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/genética , Vacunas contra Haemophilus , Humanos , Intrones , Proteínas de Unión a Hierro/genética , Masculino , Enfermedades Mitocondriales/clasificación , Enfermedades Mitocondriales/diagnóstico , Proteínas Mitocondriales/genética , Fenotipo , Vacuna Antipolio de Virus Inactivados , Polimorfismo Genético , Degeneraciones Espinocerebelosas/clasificación , Degeneraciones Espinocerebelosas/diagnóstico , Expansión de Repetición de Trinucleótido , Túnez , Vacunas Conjugadas , FrataxinaRESUMEN
PURPOSE: Surgical instrumentation for adolescent idiopathic scoliosis (AIS) is a complex procedure where selection of the appropriate curve segment to fuse, i.e., fusion region, is a challenging decision in scoliosis surgery. Currently, the Lenke classification model is used for fusion region evaluation and surgical planning. Retrospective evaluation of Lenke classification and fusion region results was performed. METHODS: Using a database of 1,776 surgically treated AIS cases, we investigated a topologically ordered self organizing Kohonen network, trained using Cobb angle measurements, to determine the relationship between the Lenke class and the fusion region selection. Specifically, the purpose was twofold (1) produce two spatially matched maps, one of Lenke classes and the other of fusion regions, and (2) associate these two maps to determine where the Lenke classes correlate with the fused spine regions. RESULTS: Topologically ordered maps obtained using a multi-center database of surgically treated AIS cases, show that the recommended fusion region agrees with the Lenke class except near boundaries between Lenke map classes. Overall agreement was 88%. CONCLUSION: The Lenke classification and fusion region agree in the majority of adolescent idiopathic scoliosis when reviewed retrospectively. The results indicate the need for spinal fixation instrumentation variation associated with the Lenke classification.