Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003090 (arthrodesis)
 8,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A father and daughter both had multiple pathological fractures and nodal osteoarthropathy. The father, aged 50 years, had at least 20 healed fractures of the axial and appendicular skeleton, sustained by minor trauma over his 50-year lifespan, many of which had been surgically fixed prior to his first presentation to us. Fractures of the clavicles, thoracic cage and long bones of the arms and legs, had healed with malalignment and deformity. Healed fractures were complicated by ankylosis of the cervical vertebrae and both elbows. He also had osteoarthritis of the hands, with exuberant osteophytosis, and profound perceptive deafness. His general health was good, his intellect and facies were normal, and his sclerae were white. The daughter, aged 27 years, had sustained at least seven fractures of the axial and appendicular skeleton following trivial injuries, in distribution similar to those of the father.She had also experienced painful swelling of the fingers,which preceded progressive development of nodal osteoarthropathy.Her hearing was normal. In both individuals,biochemical and immunological investigations yielded normal results. It was not possible for molecular studies to be undertaken. Pedigree data were consistent with autosomal dominant transmission, and this disorder appeared to be a previously undocumented heritable skeletal dysplasia.
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PMID:Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy. 1975 88

OBJECTIVEThe authors report their current experience with their previously published novel form of treatment in 70 cases of lumbar canal stenosis. The treatment consisted of only fixation of the spinal segments by the transarticular screw fixation technique. No bone, ligament, osteophyte, or disc resection was done for spinal canal and neural foraminal decompression. The proposed treatment is based on the concept that vertical instability that results in telescoping of the facets on physical activity forms the nodal point of pathogenesis of lumbar canal stenosis.METHODSDuring the period June 2014 to May 2018, 70 patients presenting with the classically described symptoms of lumbar canal stenosis were treated surgically by only fixation of involved spinal segments. Apart from clinical and radiological guides, instability was diagnosed on the basis of physical observation of the status of articulation by direct manipulation of bones of the region. The operation involved transarticular insertion of 2 or 3 screws for each articulation. The Oswestry Disability Index and visual analog scale were used to assess the patients before and after surgery and at follow-up. Additionally, a personalized patient satisfaction score was used to assess the outcome of surgery.RESULTSClinical symptomatic recovery was observed in all patients in the immediate postoperative period. During the average follow-up period, 100% of patients had varying degrees of symptomatic relief. The patient satisfaction score suggested that all patients were very satisfied with the surgical procedure. The transarticular fixation technique provided strong spinal segment fixation and a reliable ground for bone arthrodesis. No patient needed any additional modality of treatment or reoperation for recurrence of symptoms.CONCLUSIONSSpinal instability is the nodal point of pathogenesis of spinal degeneration-related lumbar canal stenosis. Only fixation of the involved spinal segments is necessary-decompression by bone or soft-tissue resection is not necessary.
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PMID:Lumbar canal stenosis: analyzing the role of stabilization and the futility of decompression as treatment. 3223 81