Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients, one with ataxia, internuclear ophthalmoplegia, muscle weakness, atrophy, fasciculations, and bilateral Babinski's signs, the other with dysarthria, dysphagia, muscle weakness, atrophy, fasciculations, and hyperreflexia, had elevated serum calcium and parathyroid hormone levels, establishing the diagnosis of primary hyperparathyroidism (HPT). Removal of a parathyroid adenoma in one patient and three hyperplastic parathyroid glands in the other resulted in remission of the hyperparathyroidism but left both patients with residual neurological damage. Postmortem examination of the second patient showed typical features of amyotrophic lateral sclerosis. The findings in these patients show that hyperparathyroidism may be associated with signs of severe central nervous system disease and that patients with unexplained neurological signs or symptoms should be checked for hyperparathyroidism.
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PMID:Severe neurological disease associated with hyperparathyroidism. 673 92

Timely diagnosis and treatment of celiac disease is important not only to improve the immediate quality of life of the patient but also to decrease the long-term risks of untreated celiac disease. A large Finnish study showed that the 5-year survival among patients who strictly adhered to a gluten-free diet was similar to that of the general population. Growth and development in infants and children proceed normally with continued gluten avoidance, and in adults many of the disease complications including osteopenia are avoided. However, peripheral neuropathy, ataxia, and severe osteopenia, particularly in the setting of secondary hyperparathyroidism, usually persist. Enteropathyassociated T-cell lymphoma is widely recognized as a complication of celiac disease, and gluten restriction has been shown to significantly decrease the risk of this malignancy to the level of the general population. Whether gluten restriction is beneficial or should be recommended for patients with asymptomatic disease remains controversial. However, the available evidence suggests that this treatment is always indicated in patients showing celiac enteropathy, at least to prevent the possible long-term complications of this condition. Despite a dearth of evidence presently to support population-wide screening for celiac disease, patients at high-risk for celiac disease should be screened based on symptoms, family history, and associated conditions, as morbidity from subclinical disease in young patients has been demonstrated.
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PMID:Celiac disease. 1471 59

A three-month-old female Siberian tiger cub with hindlimb ataxia was referred to the veterinary teaching hospital of Konkuk University. The patient was fed only beef without supplementation of calcium and vitamins after weaning. The tiger was presented with ataxia and back pain on digital palpation. In addition, abnormal gait, reluctance to move, and depressed withdrawal reflex were noted at the neurological examination. The overall osteodystrophic change of the lumbosacral vertebrae was observed on the lateral and ventrodorsal view of radiographic examination. And also PTH level was increased in hormonal assay when compared to that of cat reference range. Based on the results of examinations, nutritional secondary hyperparathyroidism was diagnosed. Clinical signs of this patient were improved after administration of vitamin D and calcium. This case demonstrates that nutritional hyperparathyroidism could be occurred in wild animals raised on a meat diet containing imbalanced calcium and phosphate.
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PMID:A case of nutritional secondary hyperparathyroidism in a Siberian tiger cub. 1518 68

Two three-month-old, intact female Abyssinian cats were presented with a history of lameness, constipation and ataxia. The cats had been fed a diet composed almost exclusively of meat. Both showed severe osteopenia and multiple pathological fractures on radiography. Following euthanasia of the more severely affected cat, postmortem examination revealed changes consistent with nutritional secondary hyperparathyroidism and fibrous osteodystrophy, such as cortical thinning, massive connective tissue invasion in the diaphysis of long bones, and hypertrophy of the chief cells in both parathyroid glands. After introducing a balanced commercial diet to the surviving cat, bone mineralisation improved from the baseline value, and at subsequent examinations at three, six and 22 weeks later, as indicated by bone mineral density measurements obtained by dual-energy X-ray absorptiometry and computed tomography.
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PMID:Nutritional secondary hyperparathyroidism in two cats: evaluation of bone mineral density with dual-energy X-ray absorptiometry and computed tomography. 1999 69