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)

Children with neuromuscular scoliosis may develop restrictive pulmonary disease, with substantially lower than normal predicted lung function. Posterior spinal fusion (PSF) is often used to slow down this rapid deterioration of pulmonary function. Postoperatively, these patients frequently develop pulmonary complications. In this retrospective study of 38 patients with neuromuscular scoliosis who underwent PSF, the preoperative vital capacity was related to postoperative pulmonary complications and need for postoperative ventilatory assistance. In two patients who developed postoperative atelectasis and pulmonary edema, the preoperative vital capacity was 44% of that predicted. In six patients who developed atelectasis only, it was 49.2%. In the remaining 30 patients who developed no postoperative pulmonary complications, the average was 64.6%. Low preoperative vital capacity was also shown to correlate with the need for longer postoperative ventilatory assistance. The preoperative vital capacity is an important prognostic parameter in evaluating postoperative pulmonary recovery.
Del Med J 1990 May
PMID:Postoperative pulmonary complications in children with neuromuscular scoliosis who underwent posterior spinal fusion. 234 96

Specific guidelines for the management of scoliosis must be individualized based on a number of factors. It is important to be sure that a patient who appears to have ordinary idiopathic scoliosis does not have some underlying disease process or congenital anomaly, which if undiscovered, may complicate that patient's management. The management of scoliosis has changed in the past few years due to significant advances in blood banking, anesthesia, and spinal instrumentation. Scoliosis fusions are performed regularly throughout the country with a great degree of safety. By combining early detection and modern management techniques, significant untreated curvature of the spine can be eliminated, and functional and cosmetic deformity can be avoided.
Del Med J 1989 Dec
PMID:Scoliosis evaluation and management. 261 99

A 14 year-old girl was found to have a deletion of the distal segment of chromosome 3 [46,XX,Del(3)(q28-29)]. The main features of this presentation were mild intellectual disability, facial dysmorphism, short stature, kypho-scoliosis, and primary ovarian failure, an association that has not been described before in association with chromosome 3 deletion. The phenotype and presentation are compared with those of previous case reports.
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PMID:Primary ovarian failure and deletions of the long arm of chromosome 3. 1635 15

Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5' UTR and exon 1, p.P245RfsX3, p.S303AfsX20, and p.W125X), and three were missense mutations (p.R300C, p.R300H, and p.P299L) responsible for the change of conserved amino acids located in the seventh nucleotidase conserved region (NRC). The arginine substitution at position 300 was identified in five out of nine families. The specific function of CANT1 is as yet unknown, but its substrates are involved in several major signaling functions, including Ca2+ release, through activation of pyrimidinergic signaling. Importantly, using RT-PCR analysis, we observed a specific expression in chondrocytes. We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process.
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PMID:Identification of CANT1 mutations in Desbuquois dysplasia. 1985 39

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by congenital absence of normal horizontal eye movements and progressive scoliosis through childhood and adolescence. The characteristic radiological features in HGPPS are butterfly configuration of the medulla, split pons sign, selective volume loss of dorsomedial brainstem, relatively spared cerebellum, relatively prominent inferior olivary nucleus and absent posterior prominence of the facial colliculi and gracilis and cuneate nuclei. These radiological features are reflective of ROBO3 gene mutation required for hindbrain axon midline crossing. Awareness of this diagnosis is important as the radiological features are characteristic enough to be considered as a rare 'Aunt Minnie' and a radiologist may be the first one to raise the possibility of this diagnosis as in this case.
Del Med J 2014 Feb
PMID:Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis? 2478 16