Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case history of a 65 year old female patient has been reported here by the authors. The patient was admitted to the Intensive Therapy Unit owing to her repeated heart pain. Later she was transferred to the Department of Medicine to establish the exact diagnosis. Prepyloric ulcer and hypertension were occurred in her history. The symptoms of her preceding as well as her recent illness were: pain in epigastric field, nausea, adynamia, weakness, polyuria, significant loss of weight, somnolence and the shortened Q--T time in electrocardiogram related to hypercalcemia syndrome. The calcium value in blood proved to be at critically high level from time to time. The possibility of the secondary hypercalcemic state was excluded by sonographic examination and the elevated level of parathormone in blood established the diagnosis of the hyperparathyroidism. The surgical resection of parathyroidic adenoma yielded a complete recovery of the patient. The authors call the attention to the significance of the clinical signs in the diagnosis of the disease.
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PMID:[Hyperparathyroidism simulating severe hypercalcemia syndrome]. 186 40

A 67-year-old woman was admitted to our department because of 5 years' duration of proximal muscle weakness. Serum CK was high, and EMG showed myogenic pattern, and muscle biopsy revealed remarkable inflammatory cells infiltrating around the destroyed muscle fibers. Her muscle weakness and hyperCKemia markedly improved by corticosteroid therapy, suggesting that the diagnosis was compatible with polymyositis (PM). In addition, serum calcium was high and phosphate was low. Serum parathormone level significantly elevated. The findings of diagnostic imaging procedures including echography, scintigraphy, and computed tomography of the parathyroid glands suggested presence of parathyroid adenoma with cystic degeneration in the thyroid tissue. There was only one case report of PM associated with primary hyperparathyroidism (PHP) as the literature referred. In this case, we could not prove direct relationship between PM and PHP. The association might have been coincidental. However, PHP might have played some role in the pathogenesis of muscular involvement, or there might be a similar immunological mechanism as seen between PM and malignancy. It is possible that association of PM and PHP is more frequent than generally considered. It may be necessary to pay more attention to find out the association of PM and PHP.
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PMID:[A case with polymyositis associated with primary hyperparathyroidism]. 261 6

Since Schmid (115) and Kruse (74) reported on osteopathies occurring after antiepileptic treatment in children, there have been numerous publications concerning the influence of antiepileptics on mineral metabolism in the bones. The investigators' results range from slight anomalies of the plasma levels of calcium, phosphate, alkaline phosphatase, parathormone and 25-hydroxycholecalciferol to severe bone alterations. In the majority of cases, the severe pictures occurred in retarded, neurologically abnormal, institutionalised children who were treated with a high-dose combination of several antiepileptics for epilepsy which was difficult to treat. The first case reports from adults were published by Dent et al. (26). These patients had also been treated since their early youth with an antiepileptic combination. They displayed fractures and suffered from bone pain and muscular weakness. The good response of the rachitic bone alterations to vitamin D treatment both in children and in adults indicated vitamin D deficiency. These reports prompted systematic investigations on the influence of antiepileptics on bone metabolism in numerous hospitals and outpatient departments. According to the available literature, it can be stated that antiepileptic therapy can lead to shifts in calcium and phosphate metabolism and to a raised activity of serum alkaline phosphatase. In studies comprising control groups, the patient treated with anticonvulsants more frequently displayed variations of clinical laboratory parameters. The frequent observation of vitamin D hypovitaminosis led to the assumption that alterations in vitamin D metabolism by enzyme induction are the cause of the disorders in calcium and vitamin D metabolism. This hypothesis was frequently contradicted in recent years after hypocalcaemia and alterations in the mineral content of the bone after antiepileptic therapy had been reported irrespective of the vitamin D level. Besides a restricted intestinal calcium absorption, an influence of antiepileptics on the hormones regulating calcium and phosphate metabolism was found. Thus, a multifactorial genesis of the disorders in bone mineral balance must be assumed. The fact that the vast majority of outpatients with long-term anticonvulsant therapy do not display any disorders of bone metabolism indicate that there are individually different compensation capabilities (possibly of genetic origin). According to the literature, the probability that adults will develop osteomalacia under antiepileptic therapy is associated with the joint presence of various risk factors.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Osteopathia antiepileptica in adolescents and adults]. 306 13

The authors report two cases of hyperparathyroidism presenting mainly with muscular weakness. In the first case, a 74 year old woman had become completely bed-ridden and muscular recovery was obtained in 18 months. In the second case, a 24 year old sportsman had to stop all competition. Hypercalcaemia was suspected after finding radiological muscular calcification; the patient was able to start his sporting activities again two months after excision of the adenoma. After a review of the literature the authors discuss the principal physiopathogenic mechanisms; a direct action of parathormone is the probable cause but this has not been proved. Muscular forms of hyperparathyroidism are rare but this "pseudo-myopathic" presentation justifies the systematic exclusion of hyperparathyroidism in all cases of unexplained muscle weakness.
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PMID:[Neuromuscular forms of hyperparathyroidism. Apropos of 2 cases]. 319 71

Sixty-one patients with chronic renal failure and secondary hyperparathyroidism underwent total parathyroidectomy and parathyroid autograft. Symptoms relieved by parathyroidectomy included bone pain, pruritus, soft tissue calcification, muscle weakness and healing of fractures. Serum parathormone levels measured before and after operation in 48 patients returned to normal in all but two patients. Serum alkaline phosphatase levels also returned toward normal after operation, except in one patient with a retained parathyroid gland. Complete radiographic studies before and after operation were available in 30 of 61 patients. Twenty-three of 24 patients with osteitis fibrosa had evidence of healing, and in one patient no change occurred. Osteosclerosis noticed in 23 patients improved slightly in eight patients, did not change in 14 and became worse in one. Pathologic examinations revealed 45 patients to have diffuse hyperplasia and 16 nodular hyperplasia. There were two early postoperative deaths, in the first 30 days, and 16 late postoperative deaths, from four months to four years afterward. In no case did the operation contribute to death. Some patients required the administration of supplemental calcium after operation, but in no instance did profound hypocalcemia occur. No patient developed recurrent hyperparathyroidism.
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PMID:Treatment of secondary hyperparathyroidism in patients with chronic renal failure by total parathyroidectomy and parathyroid autograft. 724 22

Hyperparathyroid crisis is a rare disease manifested by elevated serum calcium, weakness, nausea and vomiting, altered states of consciousness, and elevated circulating parathormone. This hypercalcemic state is noted for a frequently acute presentation and associated high mortality rate, approaching 60% in some series. Ten patients in parathyroid crisis were observed in a consecutive personal series of 325 cases of operatively proved hyperparthyroidism. All 10 patients were successfully treated. Each patient remained or lapsed into persistent coma despite extensive medical management and normalization of serum calcium in some instances. An emergency parathyroidectomy was performed in all cases. Reversal of the comatose state was noted in all patients within 24 hours, followed by gradual normalization of serum calcium. Serum calcium ranged from 15 to 19.6 mg/dl. The blood urea nitrogen level was elevated in six patients. A single adenoma was found in nine patients and multiglandular disease involving the neck and the mediastinum in one. All patients survived. The successful treatment of this disease demands prompt and accurate diagnosis coupled with vigorous medical therapy and emergency parathyroidectomy if the patient's status continues to deteriorate.
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PMID:Hyperparathyroid crisis. Successful treatment of ten comatose patients. 728 Oct 12

A 54-year-old man with oncogenic osteomalacic myopathy was reported. He presented with gradual onset of muscle weakness and painful cramp of the bilateral quadriceps femoris muscles, followed by low inorganic phosphorus, elevated alkaline phosphatase in the serum and hyperphosphaturia. The electromyogram (EMG) revealed myogenic change localized in the quadriceps muscle and nerve conduction study was normal. Muscle biopsy of right vastus lateralis muscle demonstrated non-specific myopathic change with minimal neuropathic change: moderate variation in size, many centrally placed nuclei, a few small angulated fibers and pyknotic nuclear clump. The ratio of Type IIA fibers decreased to 5.5%. Serum 25-hydroxyvitamin D and parathormone were normal, whereas 1, 25-dihydroxyvitamin D was above lower normal limit. High dose of 1,25-dihydroxyvitamin D and phosphorus were administered with partial response. CT scan demonstrated tumor in the left 10th rib proximal to the vertebra, invading into the mediastinum. Partial resection of the tumor was performed in order to preserve the rib. Histologically, the tumor was characterized by high vascularity with cystic formation, many giant cells and tumor cells with oval-shaped nuclei. Histopathological diagnosis was primitive mesenchymal tumor (mixed connective tissue variant). Immediately after resecting the tumor, the patient's muscle weakness and painful cramp was prominently relieved and serum inorganic phosphorus and tubular reabsorption of phosphorus became normal, in addition, 1, 25-dihydroxyvitamin D was elevated within normal limit. EMG findings revealed normal motor nerve unit with normal recruitment pattern. Mild myopathy is relatively a common manifestation in patients with osteomalacia. On the other hand, osteomalacia is sometimes caused by tumors, many of which are benign mesenchymal tumors of bone or soft tissue origin.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Oncogenic osteomalacic myopathy; a case report]. 778 Dec 39

Thrombosis of the left subclavian vein occurred in a 44-year-old man. It was found to be caused by an atypical thymus carcinoid of the anterior mediastinum without carcinoid syndrome. Primary resection was not possible, but it was removed after three cycles of neoadjuvant chemotherapy with doxorubicin, cisplatin, vincristine and cyclophosphamide. Increased concentrations of alkaline phosphatase and parathormone were then noted. Subtotal parathyroidectomy revealed hyperplastic parathyroids. A gastrinoma was suspected from a history of peptic ulcer for many years which had persisted despite a Billroth II gastric resection 10 years ago. Serum gastrin, analysis of gastric secretion and a secretin-stimulating test confirmed the diagnosis. Recurrent episodes of weakness and syncope, in the presence of low blood sugar levels and a positive C-peptide suppression test, were interpreted as due to an insulinoma. There was no evidence of increased hypophyseal or adrenal function. Finally, in the absence of a family history, multiple endocrine neoplasia type 1 (MEN 1) was diagnosed with co-existing primary hyperparathyroidism, gastrinoma, insulinoma and thymus carcinoid. Somatostatin-receptor scintigraphy provided localization of the MEN 1 with enrichment in the thorax and abdomen.
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PMID:[Thymus carcinoid in multiple endocrine neoplasms type I]. 790 23

The classical presentation of primary hyperparathyroidism, "moans, bones, groans," is no longer commonly seen since the diagnosis of hypercalcemia is now made much earlier with the routine use of the SMA 12. In the past 8 1/2 years, 85 patients underwent cervical exploration in our institution for primary hyperparathyroidism. There were 34 male and 51 female patients, ranging in age from 18-84 years. The specific symptoms included hypertension in 40 patients, generalized weakness in 25, renal stones in 14, psychiatric problems in 2, and bone changes on X-ray in 4. Forty-one patients were totally asymptomatic. The diagnosis was made mainly on the basis of history, serum calcium and phosphorous levels, parathormone assay, and 24-hour urinary calcium studies. Preoperative localization studies were performed in 38 patients. Thallium technetium subtraction scans, when positive, were very helpful. The surgical approach involved stepwise exploration of both sides of the neck with identification of all four parathyroid glands. In patients with uniglandular pathology (87%), the adenoma was removed with biopsy of at least one normal gland. In multiglandular disease, the abnormal glands were removed. Frozen section was routinely performed to confirm the presence of parathyroid tissue and no attempt was made to pathologically distinguish adenoma from hyperplasia. Two patients had parathyroid carcinoma. In three patients, serum calcium levels did not fall, resulting in an operative success rate of 96%. One patient treated by subtotal parathyroidectomy developed permanent hypoparathyroidism and one other patient developed temporary hypocalcemia. Only a single patient developed vocal cord palsy. Early exploration in patients with primary hyperparathyroidism is indicated. The basic diagnostic workup is sufficient for initial exploration. It is important to distinguish uniglandular from multiglandular pathology after careful bilateral exploration and identification of all four parathyroid glands.
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PMID:Cervical exploration for primary hyperparathyroidism. 844 Dec 55

A 71-year-old male undergoing hemodialysis for chronic renal failure presented with proximal muscle weakness. He had normal levels of serum creatine phosphokinase. The results of nerve conduction velocity studies and a needle-exploration electromyogram were normal. Ultrasonography revealed adenomatous enlargement of the parathyroid glands, and he had marked elevation of the serum parathormone level. The level of serum free carnitine before hemodialysis was significantly lower than normal, while the acyl/free ratio was high. However, the muscle carnitine content was within the normal range. Interestingly, partial inactivation of carnitine palmitoyltransferase activity in the muscle was observed in association with the elevation of the serum parathormone level. Uremic myopathy in this case may be caused not only by abnormal carnitine metabolism but could also be attributable to the partial carnitine palmitoyltransferase deficiency associated with secondary hyperparathyroidism.
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PMID:A case of partial carnitine palmitoyltransferase deficiency in a patient undergoing chronic hemodialysis. 1127 36


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