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 21-year-old female with nemaline myopathy and concomitant dysmorphism characteristic of elongated face, high arched palate, scoliosis and pes cavus is reported. Neurological examination revealed mild bilateral facial weakness, moderate proximal muscle weakness, and generalized absence of deep tendon reflexes in all limbs. Electromyography disclosed a moderate amount of fibrillations and positive, and short duration polyphasic waves. A biopsied specimen, obtained from the vastus lateralis muscle, showed abundant nemaline bodies from pathological study, and electron dense particles on Z-line by electron-microscopic examination. In addition, a twin-peaked population curve in fiber diameter, selective type 1 muscle fiber atrophy (34.3 um +/- 8.7 um in diameter) as well as type II fiber hypertrophy (117.0 +/- 55.8 um in diameter), and type 1 fiber grouping were observed. We report the case and raise another important clue of fiber type disproportion in the diagnosis of nemaline myopathy.
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PMID:Fiber type disproportion in nemaline myopathy. 280 74

A 21-year-old male patient was treated for idiopathic scoliosis in a general orthopedic practice. Despite treatment a steady increase of lumbar bulging was noted. An extensive soft tissue tumor was found to be the cause of this. The tumor was resected locally at the orthopedic department and was found to be histologically an aggressive fascial fibromatosis. Radiologically the vertebral column showed hemihypertrophy of the pedicles and transverse processes of Th 10 through Th 12 on the ipsilateral side. Since the resection could not be considered radical, local radiation was applied with telecobalt (60 Gy focal doses). Three years later, there is no sign of local recurrence.
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PMID:Aggressive fibromatosis. A rare cause for lumbar bulging. 324 83

A 21 year old Japanese male of normal intelligence with severe athetosis, scoliosis with pelvic obliquity, and a positive Galant's reflex was seen with complaint of difficulty in maintaining a sitting posture. After release of the soft tissues around the hip and axilla, followed by physiotherapy, he underwent ipsilateral transfer of the tensor fasciae latae to the rib cage. Six years after the final operation there has been remarkable improvement of his scoliosis and pelvic obliquity but also diminution of Galant's reflex. In addition his daily activities have been improved by the muscle transferred. He can sit for more than one hour.
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PMID:A case of severe scoliosis associated with cerebral palsy showing remarkable improvement following soft tissue release around the hip and axilla and transfer of m. tensor fasciae latae to the ribs. 742 80

Congenital scoliosis (CS) is a three-dimensional deformity of the spine affecting quality of life. We have demonstrated TBX6 haploinsufficiency is the most important contributor to CS. However, the pathophysiology at the protein level remains unclear. Therefore, this study was to explore the differential proteome in serum of CS patients with TBX6 haploinsufficiency. Sera from nine CS patients with TBX6 haploinsufficiency and nine age- and gender-matched healthy controls were collected and analysed by isobaric tagged relative and absolute quantification (iTRAQ) labelling coupled with mass spectrometry (MS). In total, 277 proteins were detected and 20 proteins were designated as differentially expressed proteins, which were submitted to subsequent bioinformatics analysis. Gene Ontology classification analysis showed the biological process was primarily related to 'cellular process', molecular function 'structural molecule activity' and cellular component 'extracellular region'. IPA analysis revealed 'LXR/RXR activation' was the top pathway, which is a crucial pathway in lipid metabolism. Hierarchical clustering analysis generated two clusters. In summary, this study is the first proteomic research to delineate the total and differential serum proteins in TBX6 haploinsufficiency-caused CS. The proteins discovered in this experiment may serve as potential biomarkers for CS, and lipid metabolism might play important roles in the pathogenesis of CS.
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PMID:Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism. 2894 95

A 21-year-old woman who was high-level college softball player presented with a 6-month history of low back pain that had been treated unsuccessfully by medication at local clinics. There was tenderness in the left paravertebral muscle at the lower lumbar level. X-ray and computed tomography revealed congenital scoliosis and an L6 hemivertebra. Short tau inversion recovery magnetic resonance imaging showed a fluid collection at the left L6-S1 facet joint. We performed a diagnostic facet injection, consisting of 1% lidocaine and steroids, that was infiltrated into the left facet joint at L6-S1. Her persistent low back pain disappeared immediately after the facet block. We diagnosed left-sided facet arthritis at L6-S1. Due to her multiple congenital anomalies, excessive loading occurred at the facet joint. Therefore, we opted for conservative management, including mobilization of the thoracic spine and stretching of hamstrings and quadriceps. This case report underscores the importance of accurate diagnosis of low back pain and of the diagnostic utility of short tau inversion recovery magnetic resonance imaging and lumbar facet block in young athletes with chronic spinal pain. J. Med. Invest. 64: 313-316, August, 2017.
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PMID:Accurate diagnosis of chronic low back pain in a high-level college athlete: a case report. 2895 5