Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have investigated the role of the parathyroid gland (PTG) in the long-term development of blood pressure (BP) in stroke prone spontaneously hypertensive rats (SHR/SP) and Wistar Kyoto (WKY) rats. After ablation of their own PTGs, SHR/SP animals received PTGs from WKY rats and vice versa. Transplantation resulted in a normal calcium and parathyroid hormone status without signs of hypoparathyroidism. All animals received a high salt diet (8% NaCl) for 4 weeks after transplantation of PTGs. In SHR/SP, which received PTGs from WKY, development of high BP was clearly attenuated when compared to sham-operated SHR/SP rats. WKY rats with PTGs from SHR/SP rats became hypertensive, while WKY sham-operated animals remained normotensive. PTGs from SHR/SP rats are able to induce hypertension in normotensive WKY rats.
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PMID:Development of hypertension in WKY rats after transplantation of parathyroid glands from SHR/SP. 170 92

A 9-year-old girl and an 11-year-old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged-red fibers and Southern analysis demonstrated a distinct heteroplasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) gene recently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These 2 children had combined features of Kearns-Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.
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PMID:Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. 189 71

Point mutations in the mitochondrial gene tRNA leucine(UUR) have been associated with maternally inherited mitochondrial myopathies including the MELAS syndrome (Mitochondrial Myopathy Encephalopathy Lactic acidosis and Stroke-like episodes). We describe a further mutation in tRNA leucine(UUR) in a patient with mitochondrial encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism and diabetes mellitus. The mutation was heteroplasmic in the proband's blood (30%) and muscle (76%); it was present at high levels in the proband's affected mother (50% in muscle), and at low levels (< 10%) in blood, muscle and fibroblasts of an unaffected sister. The mutation was not found in 121 normal controls or 35 other patients with mitochondrial disorders. The mutation is at a highly conserved position in the tRNA molecule, close to the 3,243 mutation which is associated with more than 80% of MELAS cases. Further more, both mutations lie within a possible transcriptional control region. This finding adds further support to the evidence that mutations in this region and in other mitochondrial tRNA genes may cause disease.
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PMID:A new point mutation associated with mitochondrial encephalomyopathy. 811 77

Basal ganglia calcification (BGC) is now being diagnosed with increasing frequency with widespread application of computed tomography (CT) in clinical practice and is no more considered a rarity. During the period 1987 to 1995, 42 patients were noted to have BGC and it constituted 0.93% of all CT scan of brain carried out during the relevant period. These patients presented with diverse neurological and endocrine disorders i.e., epilepsy (22 patients), mental retardation (five patients), extra-pyramidal syndromes (five patients), abnormal behaviour (three patients), stroke (two patients), raised intracranial tension without localizing signs (one patient), following radiotherapy (one patient), and with hypoparathyroidism (three patients). These patients were noted to have variable degree of calcification in different parts of brain i.e., basal ganglia (42 cases), cerebellum (12 cases) and cerebral cortex (nine cases). Family history of a neurological disorder was available in five patients. This study highlights the fact that calcification of basal ganglia and other parts of the brain is often a nonspecific finding on CT scan and it may not be possible to establish a clinicopathological correlation.
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PMID:Basal ganglia calcification. 1077 62

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS) is a maternally inherited multisystem disease caused by mutations of the mitochondrial DNA. The characteristic clinical features are: encephalopathy manifesting as dementia and seizures, stroke-like episodes at young age (usually < 40), lactic acidosis and myopathy with ragged-red fibres. Other frequent manifestations include: sensorineural deafness, diabetes, hypoparathyroidism, peripheral neuropathy and cardiomyopathy. We present two patients with MELAS who were diagnosed 4 and 9 years respectively following the onset of the disease despite the characteristic clinical pictures. The differential diagnostics of inborn and acquired disorders causing stroke is included. We regard that mitochondrial diseases are still insufficiently known and are frequently misdiagnosed. The knowledge is indispensable for establishing diagnosis and accurate genetic counselling. Although there is no specific therapy for mitochondrial diseases to date, coenzyme Q and various vitamins as well as moderate degree exercise might be recommended.
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PMID:[MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes]. 1218 2

A 55 years old man was extubated on first postoperative day following coronary artery bypass grafting at 7:30 am. The same day at 5 pm, he became drowsy but arousable only on painful stimuli with severe generalized hypertonia and bilateral upgoing plantars. He was reventilated and a provisional diagnosis of cerebrovascular accident was made. CT scan of brain was normal except for bilateral basal ganglia calcification. On further investigations, he was found to be severely hypocalcaemic due to hypoparathyroidism. All symptoms resolved on the treatment of his hypocalcaemia. There was no history of neck surgery in this patient and the case additionally highlights important interaction between parathyroid hormone (PTH) in calcium metabolism.
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PMID:Severe hypocalcaemia following coronary artery bypass grafting due to hypoparathyroidism. 2382 56

The association of hypoparathyroidism and ischemic stroke is rare in childhood. We report an interesting case of an 11-year-old girl diagnosed to have hypoparathyroidism and presented with an acute-onset right hemiparesis. Investigations revealed large artery ischemic stroke and uncontrolled hypoparathyroidism. Pediatricians and pediatric neurologists should be aware of this association in view of its potential preventive nature.
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PMID:Large Artery Stroke in a Child With Hypoparathyroidism. 2512 30

Isolated hemichorea (HC) in adults has a relatively restricted differential diagnosis including stroke of contralateral basal ganglia nuclei, nonketotic hyperglycemia, and basal ganglia toxoplasmosis in HIV infection. Hypoparathyroidism-related basal ganglia calcification can potentially cause neurological problems, including movement disorders, that are usually bilateral in keeping with bilateral symmetric lesions. We report a patient with video-documented isolated, adult-onset HC due to iatrogenic hypoparathyroidism and bilateral basal ganglia calcification. A 47-year-old woman presented with isolated adult-onset HC of 2 years' duration as the presenting and only neurological feature of hypoparathyroidism and bilateral extensive basal ganglia calcification, 20 years after thyroidectomy-induced hypoparathyroidism. Significant improvement in the unilateral hyperkinesia was noted after correction of hypocalcemia and hypoparathyroidism at 3 months. Isolated HC in adults is a rare presenting feature of hypoparathyroidism with bilateral basal ganglia calcification and is treatable with correction of the underlying metabolic abnormality. In all cases with a movement disorder and brain calcification, hypoparathyroidism should be actively sought as this treatable condition must not be missed.
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PMID:Adult-Onset Isolated Hemichorea Revealing Iatrogenic Hypoparathyroidism and Bilateral Basal Ganglia Calcification. 3173 81