Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hip instability occurs in meningomyelocele patients with lumbar level paralysis because of muscle imbalance. Transferring the hip adductor origins to the ischium can be used as the primary procedure to restore muscle balance and prevent hip instability in myelodysplasia patients if performed by the age of one year. Twelve lumbar meningomyelocele patients underwent bilateral adductor transfers. Secondary procedures, such as iliopsoas release or transfer or varus derotation osteotomy, were done in 14 hips. Ten hips needed no further surgery. Twenty of 24 hips were clinically and roentgenographically stable and showed roentgenographic evidence of improving hip development. Instability was associated with scoliosis, congenital dislocation, and age greater than one year at the time of the transfer.
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PMID:The adductor transfer in the high-risk hip in myelodysplasia: a preliminary report. 67 26

The incidence of scoliosis in cerebral palsy is related to the severity of the neurological involvement, being most prevalent in patients with spastic quadriplegia. Neuromuscular spinal deformity, when present, may progress after cessation of skeletal growth, and the success of orthotic treatment for scoliosis is unpredictable. Hip pathology is directly related to pelvic obliquity but has no causal relationship to the development of scoliosis. Adequate preoperative nutritional assessment is vital to reduce perioperative complications, and segmental spinal fixation is the instrumentation of choice. Anterior arthrodesis is indicated for rigid deformities and for those thoracolumbar and lumbar curves extending into the pelvis with pelvic obliquity and spinal decompensation.
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PMID:[Spinal disorders in cerebral palsy--surgical procedure]. 140 24

Mutations affecting the pro alpha 1(I) or pro alpha 2(I) collagen genes have been identified in each of the major clinical types of osteogenesis imperfecta. This study reports the presence of a heritable connective tissue disorder in a family with an osteopenic syndrome which has features of mild osteogenesis imperfecta but was considered idiopathic osteoporosis in the proband. At age 38, while still premenopausal, she was found to have osteopenia, short stature, hypermobile joints, mild hyperelastic skin, mild scoliosis, and blue sclerae. There was no history of vertebral or appendicular fracture. Hip and vertebral bone mineral density measurements were consistent with marked fracture risk. Delayed reduction SDS-PAGE of pepsin-digested collagens from dermal fibroblast cultures demonstrated an anomalous band migrating between alpha 1(I) and alpha 1(III). This band merged with the normal alpha-chains upon prereduction, indicating an unexpected cysteine residue. Cyanogen bromide peptide mapping suggested that the mutation was in the smaller NH2-terminal peptides. cDNA was reverse transcribed from mRNA and amplified by the polymerase chain reaction. A basepair mismatch between proband and control alpha 1(I) cDNA hybrids was detected by chemical cleavage with hydroxylamine:piperidine. The cysteine substitution was thus localized to alpha 1(I) exon 9 within the cyanogen bromide 4 peptide. Nucleotide sequence analysis localized a G----T point mutation in the first position of helical codon 43, replacing the expected glycine (GGT) residue with a cysteine (TGT). The prevalence of similar NH2-terminal mutations in subjects with this phenotype which clinically overlaps idiopathic osteoporosis remains to be determined.
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PMID:An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. 173 47

Nearly drowned children sustaining cardiac or respiratory arrest or altered neurologic status developed anoxic encephalopathy (30%), died in the ensuing days (36%), or were discharged neurologically normal (34%). In encephalopathic children, spasticity was more malignant than in children with other causes of spasticity. The most common musculoskeletal problem was contracture, especially equinus, hip adductor, hamstring, and quadriceps. Hip subluxation or dislocation occurred in 34% as early as 1 month after injury. Scoliosis developed in 18%, with some requiring bracing and surgery. Thirty-one percent ambulated, and the rest were quadriplegic. Independent sitting or better function by discharge was a predictor of ambulation potential. Of the quadriplegics, 66% were dependent sitters.
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PMID:Musculoskeletal consequences of near-drowning in children. 201 May 14

On the basis of a study of the literature and observations in 53 of our own patients, we attempted to establish the cause and best treatment for neuropathic oblique pelvis. In addition, we tried to find out if certain kinds of neurologic dysfunctions coincide with certain kinds of oblique pelvis. It is highly probable that this pelvis malformation is the result of neuropathic spinal deformity. Severe oblique pelvis and scoliosis can be related to the severity of the neurologic dysfunction. Hip dislocation is not the reason for oblique pelvis. It can be assumed that hip dislocation, on the one hand, and oblique pelvis and scoliosis on the other can influence each other. To correct oblique pelvis, the neuropathic spinal deformity must be corrected. Anterior and posterior fusion, including the lumbosacral junction, give the best results.
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PMID:[Pelvic tilt in neuromuscular diseases]. 223 61

Hip conditions in 49 patients affected with spinal muscular atrophy were studied: 35 of these were affected with the intermediate form of the disease (patients were able to sit but not walk), and 14 with the mild form (patients were able to walk). The Perkins method was used to measure the migration percentage of the femoral head. Thirty-one percent of the patients affected by the intermediate form of the disease had normal hips, 38% had unilateral or bilateral subluxation, 11% had hip dislocation. In the mild form of the disease, 50% of the patients had normal hips, 28% had unilateral or bilateral subluxation, and 22% had a hip dislocation. In the intermediate form of the disease there was a linear correlation between migration percentage and age, and between migration percentage and scoliosis. In the patients affected with the mild form of the disease who were able to walk, and in the patients affected with the intermediate form and fitted with orthoses who were able to stand, or to walk, there was no hip dislocation. Hence, walking with or without orthoses seems to be an important factor in preventing hip dislocation.
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PMID:Hip dislocation in spinal muscular atrophy. 227 22

The incidence of significant head injury has been estimated at 220/100,000 children. Over 90% of these will recover with little residual disability. The purpose of this study is to re-examine the small but significant percentage of head injured children with permanent total body involvement to identify patterns of deformity and temporal sequences and to develop preventive treatment regimens. Sixteen head injured children with residual spastic quadriplegia were examined. All exhibited musculoskeletal abnormalities. Hip adduction contractures were most common leading to hip subluxation in eight children, followed by pes equinus, scoliosis, pelvic obliquity, and knee flexion contracture. The average time to onset of permanent foot deformity was 11 months after head injury, for scoliosis an average of 22 months postinjury, and for hip subluxation an average of 31 months postinjury. Hamstring contractures occurred later, at an average of 37 months, but caused the most interference with good seating. The physical problems of the head injured child have some similarities to those of the child with cerebral palsy, but with distinct differences. An aggressive surgical approach to prevention and treatment of fixed deformity in these children is recommended at an early stage with postoperative orthotic management and stable seating in abduction.
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PMID:Pediatric update #7. The orthopaedic manifestations of head injury in children. 271 May 83

We reviewed the incidence and severity of scoliosis in 37 patients with the intermediate type and 26 with the mild type of spinal muscular atrophy. In the intermediate type, scoliosis has an early onset and rapid progression before puberty, and a spinal fusion will be needed in virtually all cases. This rapid progression occurred despite routine use of a spinal brace. Hip dislocation was frequently present but, in most cases, was secondary to the pelvic tilt and did not contribute to the scoliosis. In the mild type, the scoliosis was more variable. In the 30% of patients who had scoliosis, progression was rapid during puberty but only in those who had lost ambulation. Of the four children with the intermediate type and the seven with the mild type who walked in light-weight orthoses, progression of scoliosis was slow, except in those who had lost ambulation. The ultimate effect of walking in orthoses is difficult to assess because of small numbers, but it seems to slow or at least delay progressive scoliosis.
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PMID:Scoliosis in spinal muscular atrophy: review of 63 cases. 278 48

Musculoskeletal deformity sufficiently severe to require orthopedic surgery is a significant problem in Rett syndrome. Preliminary results from the study of 16 patients suggest deformity in nearly all patients. Eight patients in stage III and seven patients in stage IV showed clinical evidence of scoliosis. Radiographic studies confirmed a structural curve in nine of ten patients studied. Heel cord tightening was seen in nine of 16 patients. Hip instability was identified as an area of potential concern in the Rett patient.
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PMID:The orthopedic management of Rett syndrome. 319 2

A retrospective review of 277 patients with congenital muscular torticollis seen between 1970 and 1982 was conducted. In 85 cases this was supplemented by questionnaires and recent photographs, permitting a two- to 13-year follow-up. The first visit for 81.6% of patients was before six months of age. All were enrolled in a specific physical therapy program at the time of the first visit, unless they presented with severe torticollis after 12 months of age. Torticollis was mild to moderately severe in 90.6% of cases. Sternomastoid fibrotic nodules were present in 38.6%, more frequently in the more severe cases. Hip dysplasia increased in direct relation to severity and occurred in 10.5% of cases. At 12 months the torticollis had been conservatively resolved in nearly 70% of patients regardless of severity and presence or absence of focal fibrosis. Tenotomies were indicated in only ten children, eight of whom had first been seen after 12 months of age. Long-term sequelae were mild and consisted of craniofacial asymmetry, intermittent head tilt, and mild scoliosis. Developmental asymmetry or high tone due to limited mobility in the cervical spine were noted in 25.3% of infants initially and tended to subside with appropriate therapy. However, 11.8% of patients with long-term follow-up showed persistent functional asymmetry of the involved body side despite mild or moderate severity, early diagnosis, and complete resolution of the torticollis. Long-term observations indicate that congenital torticollis rarely requires surgical treatment.
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PMID:Congenital muscular torticollis: results of conservative management with long-term follow-up in 85 cases. 356 14


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