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)

A fairly constant constellation of roentgen anomalies has been detected in the skeleton of 9 patients with the trisomy of the short arm of chromosome No 4. The more common changes involve the skull, spine and pelvis, while the limbs, as well as the internal organs, are less affected. Microcephaly, hypertelorism, small and closed sella, malocclusion, scoliosis, "square" vertebral bodies, narrow iliac wings, wide iliac angles and narrow acetabular ones, coxa valga, medial recumbency of the proximal tibial epiphysis and retarded bone age are usual findings.
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PMID:The radiological pattern associated with the trisomy of the short arm of chromosome No 4. 123 11

This experimental study was designed to clarify the role of the intervertebral disc in the progression and correction of scoliosis. A total of 186 Wistar strain rats were used. Progressive scoliosis-like deformity was produced in tails by fixation of a given strain for a certain period. Changes in the intervertebral disc and epiphysis of one group with removal of the nucleus pulposus, and the other without removal were examined radiologically and pathohistologically. The results are as follows: 1) deformity originated from deviation of the nucleus pulposus toward the convex side and was followed by changes of the concave side, and led to deformities of the epiphysis and vertebral body; 2) on correction of the deformity, deviated nucleus pulposus and contracture of the concave side served as correction-inhibiting factors. The author's results indicate that intervertebral disc affecting the progression and correction of scoliosis are of great clinical significance.
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PMID:[An experimental study on the pathology and role of intervertebral discs in the progression and correction of scoliotic deformity]. 323 96

Multiple endocrine neoplasia type 2b (MEN 2b) is a rare genetic disorder. Affected individuals have malignant thyroid tumors, pheochromocytoma, and ganglioneuromatosis. The musculoskeletal manifestations of MEN 2b include a Marfanoid habitus, pes cavus, scoliosis, slipped capital femoral epiphysis, joint laxity, poor muscle development, and delayed maturation. The initial clinical presentation of MEN 2b frequently involves the musculoskeletal system. The characteristics ganglioneuromatosis of the lips and tongue, however, should alert the orthopedic surgeon to the underlying disorder. Effective treatment of the malignant neoplasms hinges on early diagnosis. The risk of perioperative hypertensive crisis is significant; it may be prevented by appropriate treatment of the pheochromocytoma.
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PMID:Thick lips, bumpy tongue, and slipped capital femoral epiphysis--a deadly combination. 335 Sep 59

There are three types of familial multiple endocrine neoplasia, but type 2b, which is characterized by medullary thyroid carcinoma, pheochromocytoma, and ganglioneuromatosis, is the only one in which patients also have skeletal anomalies. These musculoskeletal abnormalities include marfanoid habitus, pes cavus, talipes equinovarus, slipped capital femoral epiphysis, kyphosis, scoliosis, lordosis, increased joint laxity, and weakness of the proximal muscles of the extremities. Affected patients have several facial abnormalities as well, the most striking being enlargement of the lips. Therefore, when a patient is seen with one or more of these musculoskeletal defects, the diagnosis of type-2b multiple endocrine neoplasia should be considered. If the characteristic facial features of the disorder are present, the patient should have a prompt examination for medullary thyroid carcinoma and pheochromocytoma.
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PMID:Multiple endocrine neoplasia with skeletal manifestations. 611 Jun 69

The treatment of the acute state of septic arthritis of the hip in children has been clearly outlined in the current literature. The treatment of residual anatomic deformity is less well understood; no classification or comprehensive treatment program has been documented. The following classification of the sequelae of septic hips in children is based on the presence or absence of a capital femoral epiphysis and hip stability. This classification defines the case material and outlines the anatomic problem requiring solution. Of ten patients with severe destruction of the femoral head followed for an average period of 11.2 years, there were eight satisfactory and two unsatisfactory results. Both unsatisfactory results were Type III hips with pseudarthrosis of the neck. Both had an average of five surgical procedures, compared with 2.2 procedures for patients with satisfactory results. The complications were leg-length discrepancy, hip instability, and scoliosis.
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PMID:Classification and surgical management of the severe sequelae of septic hips in children. 714 82

Whether to treat deformities in childhood or even to operate on them is a difficult decision which may affect a patient's whole life. Most important is a sound knowledge of the natural course. Many 'deformities' are just normal variants, and others improve during the growth period, but some get worse and may cause damage in later life. However the outcome of operations is not always certain. Recurrence may occur as well as overcorrection; therefore, the long-term prognosis, with or without treatment, must be the guideline for indications. If an operation is considered, timing and extent of a correction are decisive. On the grounds of long-term outcome studies, guidelines can be established for the treatment of different diseases and deformities: upper extremities [dysmelia, elbow], spine [scoliosis, Scheuermann's disease, spondylolisthesis], hip (congenital dysplasia, Perthes' disease, slipped epiphysis), knee and feet (flatfoot, pes equinovarus).
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PMID:[Long-term results in pediatric orthopedics]. 763 Dec 74

A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.
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PMID:A case of trichorhinophalangeal syndrome, type I. 785 Nov 30

We reviewed adverse event (AE) data in the National Cooperative Growth Study from start-up (1985) until January 1, 1999. Enrollment was 33,161. A total of 2,632 AE reports were received; 863 were serious events, with 156 deaths. The most common cause of death was recurrence of intracranial neoplasm. There were 20 reports of leukemia, and the standard morbidity ratio (SMR) was 0.73 (95% CI: 0.20-1.86) for the four cases without risk factors. There were 35 reports of extracranial nonleukemic malignancy, and the SMR was 0.44 (95% CI: 0.24-0.74) for the 14 cases without risk factors. The recurrence rate for all brain tumors present at baseline was 7.6%, and for craniopharyngiomas, 6.4%. There were 49 reports of intracranial hypertension (20 patients had papilledema), 68 reports of diabetes/hyperglycemia, 45 of slipped capital femoral epiphysis, 136 of scoliosis, and five of pancreatitis. There was no evidence of increased incidence of leukemia or extracranial nonleukemic malignancies among patients without prior risk factors. Intracranial hypertension does not necessarily occur early in growth hormone therapy. Other findings were consistent with past observations.
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PMID:Growth hormone safety update from the National Cooperative Growth Study. 1108 59

The action of growth hormone (GH) via its receptor involves many organ systems and metabolic pathways. These diverse actions are reviewed in this paper in the context that they may represent unwanted side-effects of GH therapy for growth promotion. The monitoring of GH therapy in large multicentre international databases has demonstrated a low frequency of adverse events. Tumour recurrence or new malignancy are not increased. Headaches, especially in the first few months of therapy, require close evaluation as benign intracranial hypertension is found infrequently, especially in children with GH deficiency and chronic renal failure (CRF). Children at risk for slipped capital femoral epiphysis and scoliosis require close monitoring during therapy. Decreased insulin sensitivity that is dose-dependent is observed during GH therapy. Glucose homeostasis, however, is not affected, but a recent report of increased incidence of Type 2 diabetes mellitus in children undergoing GH therapy requires prospective surveillance.
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PMID:Safety issues in children and adolescents during growth hormone therapy--a review. 1173 34

The prevalence of asymptomatic cardiac valve anomalies was determined in 82 patients (69 females and 13 males) diagnosed as having idiopathic scoliosis and scheduled for corrective surgery (mean age at surgery 16.3 years). The preoperative study in each patient included echocardiography and ultrasound Doppler. Twenty-three valvular anomalies were found in 20 patients (24.4%). The most frequent was mitral valve prolapse. The occurrence of valvular anomalies did not correlate with sex, curve magnitude, or age at diagnosis. Eighteen patients presented a total of 20 comorbid conditions: positive family history of scoliosis (five cases), isthmic spondylolisthesis (five cases), nervous anorexia (two cases), hereditary exostosis, cystic fibrosis, ureteral stenosis, mammary hypoplasia, slipped capital femoral epiphysis, psoriasis, celiac disease, and lactose intolerance. A significant relationship was found between valvular anomalies and comorbidity. Valvular anomalies were detected in 11 out of 64 patients (17.2%) with no comorbidity and in nine out of 18 patients (50%) with a comorbid condition (Chi-square 8.2, p = 0.004). In this latter group of patients, routine echocardiographic study seems advisable in the preoperative evaluation.
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PMID:Prevalence of asymptomatic cardiac valve anomalies in idiopathic scoliosis. 1217 Mar 60


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