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1.
Comput Methods Biomech Biomed Engin ; 26(4): 450-459, 2023 Mar.
Article in English | MEDLINE | ID: mdl-35472257

ABSTRACT

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.


Subject(s)
Arthroplasty, Replacement, Knee , Osteoarthritis, Knee , Humans , Osteoarthritis, Knee/therapy , Osteoarthritis, Knee/surgery , Treatment Outcome , Decision Making
2.
Pathol Biol (Paris) ; 62(1): 41-8, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24011957

ABSTRACT

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 modifier 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.


Subject(s)
DNA, Mitochondrial/genetics , Mitochondrial Diseases/genetics , Spinocerebellar Degenerations/genetics , Adolescent , Consanguinity , DNA Helicases/genetics , DNA Mutational Analysis , DNA Polymerase gamma , DNA Replication , DNA-Directed DNA Polymerase/genetics , Diagnosis, Differential , Diphtheria-Tetanus-Pertussis Vaccine , Friedreich Ataxia/diagnosis , Friedreich Ataxia/genetics , Haemophilus Vaccines , Humans , Introns , Iron-Binding Proteins/genetics , Male , Mitochondrial Diseases/classification , Mitochondrial Diseases/diagnosis , Mitochondrial Proteins/genetics , Phenotype , Poliovirus Vaccine, Inactivated , Polymorphism, Genetic , Spinocerebellar Degenerations/classification , Spinocerebellar Degenerations/diagnosis , Trinucleotide Repeat Expansion , Tunisia , Vaccines, Conjugate , Frataxin
3.
Int J Comput Assist Radiol Surg ; 7(2): 257-64, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22246787

ABSTRACT

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.


Subject(s)
Neural Networks, Computer , Scoliosis/classification , Scoliosis/surgery , Spinal Fusion/methods , Adolescent , Databases, Factual , Decision Making, Computer-Assisted , Female , Follow-Up Studies , Humans , Internal Fixators , Lumbar Vertebrae/diagnostic imaging , Lumbar Vertebrae/surgery , Male , Radiography, Thoracic , Retrospective Studies , Severity of Illness Index , Thoracic Vertebrae/diagnostic imaging , Thoracic Vertebrae/surgery , Treatment Outcome
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