Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The files were studied of 300 patients operated for primary hyperparathyroidism for the first time. Their median age was 60 years. The female/male ratio was 3/1, but in the younger patients males and females were about equally present. Preoperatively, one third was considered as asymptomatic with respect to hyperparathyroidism. In this subgroup the hypercalcemia was detected coincidentally and the mean parathyroid hormone level was lower than in the others. Another third of the patients had nephrolithiasis, they were on the average younger and there were more males. Finally one third showed other symptoms as gastrointestinal disease, bone disease or general malaise. Intraoperatively, we found a solitary adenoma in 90% of the cases, a double adenoma in 5% (on each side of the neck in half of the cases) and hyperplasia in 4%. The adenomas had a tendency to occur more often in the upper parathyroid glands, but the difference was not important enough to influence the surgical technique. Hyperplasia patients were, on the average, younger and double adenoma patients older. The female/male ratio was 1/1 for hyperplasia and 15/1 for double adenoma.
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PMID:Pre- and intra-operative findings in primary hyperparathyroidism. 1144 71

Chronic recurrent multifocal osteomyelitis (CRMO) is a childhood, bone disorder causing bone pain, swelling, malaise, and fever. A study of 22 children with CRMO, treated at the Royal Children's Hospital, Melbourne, was reported previously. This present study reviews 8 of these, together with 4 additional patients. The patients were interviewed and examined by the first two authors, who had not been involved in their management. The patients were 9 females and 3 males, with a mean age of 22 years (16-31 years). Age at onset of symptoms was between 4 and 11 years and duration 2.5-20 years. Only 1 patient experienced difficulties in school and in maintaining a job. However, only 2 patients experienced complete resolution of symptoms. The number of affected sites was 2-9, most commonly ankle, knee, and clavicle. Seven patients have noticeable deformity. Five had leg-length inequality of at least 1.5 cm, one of whom, with shortening of 5.5 cm, has undergone a lengthening procedure. CRMO is not a benign condition and if not followed to maturity can have disabling sequelae.
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PMID:Chronic recurrent multifocal osteomyelitis: review of orthopaedic complications at maturity. 1213 48

A bone biopsy specimen in a long-term hemodialysis patient with sarcoidosis coexisting with severe hypoparathyroidism has demonstrated that a persistent near physiological level of 1,25-dihydroxyvitamin D3 contributes to the preservation of bone remodeling and has the potential to retard the development of vascular calcification and atherosclerosis. Sarcoidosis-related hypercalcemia and hypoparathyroidism, which is characterized by 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) overproduction, is rarely seen in hemodialysis patients. Herein, we describe a 60-year-old Japanese woman on hemodialysis for 35 years who presented with malaise and hypercalcemia. Severe hypoparathyroidism without parathyroidectomy and a preserved 1,25(OH)2D3 level were detected. Computed tomography showed bilateral axillary lymphadenopathy and minimal aortic and soft tissue calcification. The axillary node biopsy led to a definite diagnosis of sarcoidosis. A bone biopsy specimen obtained from the right iliac crest showed remodeling of normal lamellar bone with scalloped cement lines and clear double labeling by tetracycline on fluorescence microscopy. Histomorphometric analysis revealed that the bone formation rate was preserved (30.0 %/year), together with a decrease of osteoid volume (5.75 %) and fibrous volume (0 %), indicating that the patient did not have adynamic bone disease and only showed mild disease. This is the first documented case of sarcoidosis-related hypercalcemia associated with severe hypoparathyroidism in a long-term hemodialysis patient who underwent bone histomorphometry. Our findings suggest that, in hemodialysis patients with sarcoidosis coexisting with severe hypoparathyroidism, a persistent near physiological level of 1,25(OH)2D3 contributes to the preservation of bone remodeling and has the potential to retard the development of vascular calcification and atherosclerosis.
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PMID:Bone histomorphometry in a long-term hemodialysis patient with hypoparathyroidism and sarcoidosis. 2550 27