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)

We describe two brothers with early onset cerebellar ataxia associated with hypoalbuminemia (EOCAH). Choreo-athetoid movements preceded the cerebellar ataxia, and serum pseudocholinesterase elevation preceded the hypoalbuminemia. The parents are first cousins. Patient 1, the 22-year-old elder brother, developed choreoathetoid movements of the neck and extremities at the age of eighteen months. He later developed slowly progressive cerebellar ataxia with decreased tendon reflexes. The choreoathetoid movements ceased at about 16 years of age. A recent examination revealed cerebellar ataxia, action myoclonus of the neck and upper limbs, diminished tendon reflexes, mild sensory disturbance in the lower extremities, and very slight amyotrophy of the feet. Patient 2, the 18-year-old younger brother, developed choreo-athetoid movements at the age of 6 years, followed by slowly progressive cerebellar ataxia with disminished tendon reflexes. No scoliosis, ECG abnormalities, or edema was detected. Serum biochemistry studies revealed elevated pseudocholinesterase (6,226 to 2,390 IU) in the patient's early teens. Serum albumin levels tended to be low (3.7 to 4.1 g/dl). Serum triglyceride and beta-lipoprotein levels were elevated in the patients' late teens. Genetic studies showed slight linkage of D9S15. The maximum lod score was 0.289 (recombination fraction rate was 0.14).
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PMID:[Familial early onset cerebellar ataxia with hypoalbuminemia]. 766 33

The records of forty-four patients who had cerebral palsy and spastic quadriplegia and in whom a spinal arthrodesis had been done for scoliosis were reviewed to determine if the preoperative nutritional status of the patients was associated with the rate of postoperative complications. The patients were divided into two groups: Group 1 consisted of twenty-four patients who had a preoperative level of serum albumin of at least thirty-five grams per liter (3.5 milligrams per cent) and a total blood-lymphocyte count of at least 1.5 grams per liter (1500 cells per cubic millimeter), and Group 2 consisted of twenty patients who had a preoperative level of serum albumin of less than thirty-five grams per liter (3.5 milligrams per cent) and a total blood-lymphocyte count of less than 1.5 grams per liter (1500 cells per cubic millimeter). The patients in Group 1 had a significantly lower rate of infection, a shorter period of endotracheal intubation after the operation, and a shorter period of hospitalization.
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PMID:The relationship between preoperative nutritional status and complications after an operation for scoliosis in patients who have cerebral palsy. 831 27

Seven patients with hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA) are presented. This is the first comprehensive evaluation of what is a unique disorder, half way between the cerebellar atrophies and the hereditary motor and sensory neuropathies. In addition to cerebellar ataxia and peripheral neuropathy, the most frequent features in HMSNCA were nystagmus, dysarthria, mental impairment and tremor. Pyramidal signs or autonomic nerve dysfunction was never revealed. Scoliosis or kyphoscoliosis was not noted. Progression of the disorder was very slow, most of the patients being ambulatory more than 10 years after the onset. Most of the patients had hypoalbuminemia. Half-life periods of serum albumin were normal and decreased synthesis of albumin in the liver was suspected. An autosomal recessive inheritance was strongly suggested, because of healthy consanguineous parents and affected siblings in these families. The segregation ratio was 0.32 +/- 0.10 and was close to the expected ratio of 0.25 in an autosomal recessive inheritance.
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PMID:Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease. 858 17

Chylothorax is reported as a postoperative complication, mainly in the field of thoracic surgery, but there are only 14 reports in the field of spinal surgery. A 64-year-old woman underwent spinal fusion surgery by the anterior and posterior approach for her scoliosis. She developed leg edema and right pleural effusion 2 months after the surgery. Laboratory findings showed decreased total protein and albumin levels in serum. The color of the thoracentesis sample was pinkish white, and the Triglyceride level in the pleural effusion was high. So, her leg edema was found to be associated with malnutrition and the pleural effusion was caused by chylothorax. The point of leakage from the lymph duct was confirmed in the right thoracic cavity of the slice that corresponded to that with the screw at Th11 by lymphatic scintigraphy. Her symptoms did not improve by diet restriction and lipidol lymphography, but her pleural effusion and albumin levels improved by the administration of octreotide. In the clinical course, serum albumin levels appeared to show an inverse correlation with the amount of pleural effusion, so it was thought that her serum albumin level decreased owing to leakage of protein, including albumin, into the thoracic cavity via the injured thoracic duct. We concluded that the chylothorax was owing to complications of the surgery. Although reports of chylothorax occurring as a complication of spinal fusion surgery are rare, when prolonged hypoalbuminemia or unilateral pleural effusion is observed, chylothorax should be considered as a differential diagnosis.
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PMID:Chylothorax after spinal fusion surgery: A case report and literature review. 3081 56