Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Temporal headache, blindness, and polymyalgia rheumatica are well-recognized manifestions of giant cell arteritis. However, the disease may present in less evident fashion as shown by 30 of 74 patients with biopsy-proven giant cell arteritis whose predominant complaint was not one ot these cardinal symptoms. For this group of 30, the main problem was fever in 12 patients, anorexia, weight loss, and elevated serum alkaline phosphatase level suggesting an occult malignancy in 7, and unexplained anemia in 3. Four patients had a neurologic syndrome; 2 had diplopia and 2 acute weakness of one arm. Claudication was the chief complaint of 4 patients, involving the leg in 1, the arm in 1, and the jaw in 2. All patients responded well to steroid therapy.
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PMID:Presentation of occult giant cell arteritis. 738 40

The August 2003 COM. A 47-year-old woman presented with a long history of muscle pain, weakness, and visual disturbances. Over the last year, she developed diplopia and left sixth nerve palsy. No other neuro-ophthalmologic abnormalities were found. Past medical and family history was unremarkable. Laboratory investigation disclosed hypophosphatemia, phosphaturia, elevated serum alkaline phosphatase activity, and normal serum calcium levels. CT scans showed a lobulated mass arising on the meningeal surface of the cavernous sinus, measuring 3x 2 x 2 cm. The lesion was partially resected and microscopic examination revealed a highly vascularized tumor composed of primitive mesenchymal cells arranged whether in a patternless-pattern or surrounding thin-walled, branching vascular spaces and thick-walled hyalinized vessels. Other eye-catching features were microcystic areas, multinucleated osteoclastic-like giant cells, scattered islands of mature adipocytes, foci of hemorrhage, thrombosed medium-sized-to-large vessels, and hemosiderin-laden macrophages. After surgery, the patient recovered from the muscle pain and weakness, with a significant improvement of serum calcium and alkaline phosphatase levels and phosphate blood levels. Taken together, the clinical and pathologic features were consistent with a diagnosis of phosphaturic mesenchymal tumor (mixed connective tissue variant) of the cavernous sinus in a setting of oncogenic osteomalacia. No further treatment was carried out. The patient has been followed for the last 4 years with no evidence of recurrent disease. Oncogenic osteomalacia is a rare clinical entity characterized by hypophosphatemia, phosphaturia, and a low concentration of 1,25-dihydroxyvitamin D(3) caused by a neoplasm. Pathologists should be aware of this entity, because surgical excision of the tumor is usually curative.
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PMID:August 2003: 47-year-old female with a 7-year history of osteomalacia and hypophosphatemia. 1499 44

Spontaneous degeneration of sarcomatosis of fibrous dysplasia is a rare phenomenon in adolescence. Fibrous dysplasia is often a deforming and devastating condition that begins in childhood and accounts for approximately 7.5% of the benign bone neoplasms. Approximately 50% to 100% of patients with polyostotic disease and 10% with monostotic disease have craniofacial involvement. This report is about a 16-year-old adolescent boy who had rapid facial mass growth and diplopia at the time of his referral to our center. The patient had been diagnosed with fibrous dysplasia a year earlier, and since the first diagnosis, he was submitted to only 1 surgical intervention, which had been followed by recurrence. The main clinical findings were a bilateral zygomatic mass, saddling of the nasal dorsum, diplopia, superior and inferior gaze, and numbness in the right inferior orbital nerve. The patient had a high level of serum alkaline phosphatase. The diagnosis of osteosarcoma was established by biopsy, and the patient underwent surgical treatment. His postsurgery results were good, and he did not experience a relapse until 1 year after surgery. Unfortunately, 6 months after the recurrence of his condition, he died of uncontrollable local spread.
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PMID:Spontaneous conversion of fibrous dysplasia into osteosarcoma. 2155 13

A 47-year-old woman presented with six episodes of horizontal binocular double vision over a 2-year period. CT imaging was significant for extensive dural calcification in the spine and calcification of the skull base, likely involving Dorello's canal. Biochemical testing revealed a persistently low alkaline phosphatase level. Recurrent nerve palsy may possibly be induced by mechanical compression of the sixth cranial nerve in Dorello's canal from calcification due to hypophosphatasia syndrome.
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PMID:Recurrent abducens nerve palsy and hypophosphatasia syndrome. 3097 72