Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cervical spondylotic myelopathy usually arises in patients in their late 40s or early 50s, most frequently at the C5/6 and C6/7 levels. Recently, excellent results have been attained with microsurgery in cases of cervical spondylosis. On the other hand, treatment of cervical spondylotic myelopathy in patients with athetoid dystonic cerebral palsy entails several problems. The authors report three cases of such troublesome myelopathy. A 34-year-old male with severe athetoid movement showed cervical spondylotic myelopathy. Myelography and magnetic resonance (MR) imaging demonstrated compression of the spinal cord through the C3-C5 levels. A 47-year-old female with athetoid dystonic cerebral palsy presented myelopathy. Myelography and MR imaging showed instability and spinal cord compression at the C5/6 level. A 34-year-old male with spasmodic torticollis showed C6 radiculopathy due to cervical disc hernia at the C5/6 level. Cervical anterior decompression with interbody fusion brought temporary improvement in all the three patients. However, such problems as slippage of Halo-vest, difficulty in eating during Halo-vest fixation, relapse of neurological deficit, were experienced. Due to postoperative cervical instability, cervical laminectomy is considered to be contraindicated in such patients. Anterior decompression with bone fusion has been reported effective, but, if athetoid dystonia continues, there is a potential for myelopathic deterioration due to spondylotic changes adjacent to the fused vertebrae.
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PMID:[Surgical treatment of cervical spondylotic radiculomyelopathy with abnormal involuntary neck movements. Report of three cases]. 248 93

We report four patients with various degrees of chronic, tonic, mildly painful, or non-painful, kyphoscolioses in orthostatism, which developed weeks, or months, after one or several laminectomies for lumbar disk hernia, in the absence of recurring radicular pain or acute lumbar pain. No family history or personal antecedent, of focal or generalized dystonia was found and the dystonia was not seen in any of the four patients pre-operatively, or during the immediate post-operative period. Only ill-defined lumbar 'discomfort', unlike their pre-operative lumbago, was reported by the patients, before and during the occurrence of the pathologic trunk posture on standing. Asymmetric lumbar muscle tonic contraction and hypertrophy was found on physical examination. In all patients, the kyphoscoliosis was maximal when standing, partially disappeared when seated, and completely when lying down. One patient responded well to clonazepam, but the other three showed no improvement with either clonazepam or local injections of botulinum toxin; L-dopa was ineffective in all cases, and trihexiphenidyle in three.
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PMID:Delayed segmental axial dystonia of the trunk on standing after lumbar disk operation. 941 41

Retinoic acid (RA) signaling plays a key role in the development and function of several systems in mammals. We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia. However, the natural history of affected subjects beyond the prenatal or neonatal period was unknown. Here, we describe nine additional subjects with microphthalmia who have de novo mutations in RARB, including the previously described p.Arg387Cys as well as the novel c.887G>C (p.Gly296Ala) and c.638T>C (p.Leu213Pro). Moreover, we review the information on four previously reported cases. All subjects who survived the neonatal period (n = 10) displayed severe global developmental delay with progressive motor impairment due to spasticity and/or dystonia (with or without chorea). The majority of subjects also showed Chiari type I malformation and severe feeding difficulties. We previously found that p.Arg387Cys and p.Arg387Ser induce a gain-of-function. We show here that the p.Gly296Ala and p.Leu213Pro RARB mutations further promote the RA ligand-induced transcriptional activity by twofold to threefold over the wild-type receptor, also indicating a gain-of-function mechanism. These observations suggest that precise regulation of RA signaling is required for brain development and/or function in humans.
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PMID:Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 2712 18