Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.3.1 (alkaline phosphatase)
47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Idiopathic osteoporosis is uncommon in middle-aged men. We discuss nine otherwise healthy men aged from 35 to 57 years, eight of whom were shown to be osteoporotic when subjected to detailed investigation because of back pain. None had suffered fractures of the appendicular skeleton as adults. All had an ordinary life style and ate a normal diet. Lumbar spine bone density was greatly reduced in all nine patients, while six of them showed normal values for cortical bone density in the forearm. Bone histomorphometry showed high turnover of bone tissue, with high bone resorption and lower than average bone formation. Serum osteocalcin levels were low in all nine patients, but alkaline phosphatase was higher than the upper normal limit in six of them. The etiology of the disease is unknown, but the pathogenesis is a result of disparity between formation and resorption of bone tissue. Unidentified environmental factors may be one of the reasons for the appearance of idiopathic osteoporosis as a "new" disease among middle-aged men.
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PMID:[Idiopathic osteoporosis in middle-aged men--a "new" disease?]. 800 80

We report a patient with oligodendroglioma metastases 1 year after tumour debulking and postoperative radiotherapy to the parietal lobe primary. This treatment controlled the patient's tumour locally. Distant recurrence was manifest by back pain, weight loss and malaise. The serum alkaline phosphatase was raised and a bone scan showed generalized increased uptake. Bone marrow trephine revealed infiltration by oligodendroglioma. Bone marrow infiltration by gliomas is very rare. If the trephine had not been performed it might have been assumed that he had a disseminated second primary tumour.
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PMID:Bone marrow infiltration by a parietal lobe grade III oligodendroglioma. 858 60

Although the number of patients with primary hyperparathyroidism (pHPT) has increased since biochemical screening came to be widely employed, few data are available concerning the clinical analysis of Japanese patients. We therefore tried to determine the recent clinical and biochemical state of Japanese patients with pHPT. Clinical and biochemical data were analyzed in a series of 103 pHPT patients who had been hospitalized in Kobe University Hospital during a 17 year period from 1979 to 1995. The data were obtained from the hospital records and additionally from information through questionnaires performed in 1995. Patients were 29 males and 74 females. The average ages at diagnosis were 53.4 +/- 16.0 (SD) year-old and 53.9 +/- 15.2 year-old, respectively. The major clinical symptoms were nephrolithiasis (35.9%), thirst/polyuria (33.0%), easy fatigability (20.4%) and back pain/lumbago (16.5%), but 19.4% of the patients were asymptomatic. Out of 87 cases who received parathyroidectomy, 10 (11.5%) were diagnosed with parathyroid carcinoma. Age- and sex-corrected bone mineral density (BMD) of the radius was significantly lower in the group with back pain/lumbago than in the group without the symptom. Similarly, radial BMD was lower in the group with a high serum alkaline phosphatase value. Patients with nephrolithiasis had a lower urinary calcium/creatinine ratio (UCa/ UCr; 0.305 +/- 0.188 mg/mg) than the patients without nephrolithiasis (0.400 +/- 0.160 mg/mg). This inconsistent result suggests that some important factors except urinary calcium would contribute to urinary stone formation in pHPT. Our data mostly agreed with previous reports on a Caucasian population except for a relatively high prevalence of parathyroid carcinoma, but the negative correlation between nephrolithiasis and urinary calcium was not easily explicable. This finding should be confirmed by analyzing a larger number of cases.
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PMID:Clinical and biochemical presentation of primary hyperparathyroidism in Kansai district of Japan. 944 96

A 56 year-old man with a 2-year history of transitional-cell carcinoma of the urinary bladder presented with back pain and diffuse radiological osteosclerosis. Laboratory studies revealed borderline-low ionized serum calcium, and markedly elevated serum alkaline phosphatase (ALP) activity and serum osteocalcin. Serum acid phosphatase and prostatic-specific antigen (PSA) were normal. Serum 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D were just below the normal limit and parathyroid hormone was moderately elevated. A transiliac bone biopsy specimen revealed expanded bone trabeculae, abundance of osteoid-covered surfaces, and heavy metastatic spread. To the best of our knowledge, this is the first description of the association of osteosclerosis and metastatic transitional-cell carcinoma of the bladder.
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PMID:Severe, diffuse osteosclerosis: A new manifestation of transitional cell carcinoma of the urinary bladder. 981 40

A 47-year-old woman suffered from gait disturbance due to back pain and muscle weakness. Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, and a normal level of ionized calcium. Radiological examinations revealed multiple pathologic fractures in the ribs and pubic rami. She had had no episode of familial or any other notable disorder, and so she was initially treated with medication for adult-onset osteomalacia. However, 19 years later (when she was 66 years old), she noticed a soft-tissue tumor in her buttock. The tumor was excised. The histological features were those of glomangiopericytoma characterized by both glomus tumor-like and hemangiopericytoma-like structures. After removal of the tumor, her symptoms disappeared immediately. Laboratory data normalized 8 months later. To our knowledge, this is the first report of oncogenic osteomalacia caused by glomangiopericytoma.
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PMID:Glomangiopericytoma causing oncogenic osteomalacia. A case report with immunohistochemical analysis. 1119 5

We report the case of a 45-year-old woman who presented with a six-year history of diffuse polyarthralgia responsible for major disability. She reported bilateral symmetric arthralgia in nearly every joint, as well as back pain. Muscle wasting predominating in the roots of the limbs was found. Laboratory tests showed hypocalcemia, severe hypophosphatemia, hypokalemia, alkaline phosphatase elevation, aminoaciduria, and hyperphosphaturia, with no glycosuria. Radiographs disclosed osteolysis of the pubic symphysis, multiple pelvic fractures, vertebral compression fractures, and diffuse demineralization. A bone scan visualized symmetric foci of hyperactivity in nearly all joints and fracture sites. Dramatic improvements in clinical and radiographic abnormalities were noted after six months of treatment with phosphate and calcitriol. This is a case of incomplete Fanconi syndrome, with no glycosuria. The clinical presentation of Fanconi syndrome can be misleading. Fanconi syndrome should be borne in mind as a possible cause of polyarthralgia to avoid diagnostic delay, which in our patient led to a picture of pseudomyopathy with multiple fractures.
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PMID:Bilateral symmetric polyarthralgia revealing Fanconi's syndrome. 1202 14

A 49-year-old man was hospitalized because of a 2-month history of purpura in his extremities and for back pain. Laboratory findings showed alkaline phosphatase to be greatly elevated, and platelet counts and coagulation factor showed that the patient had disseminated intravascular coagulation (DIC). Compression fractures of the thoracic vertebrae were found on radiological examination. The histological findings from bone marrow showed metastasis of adenocarcinoma with signet-ring cells, although the primary site was unknown. To reduce tumor cells in number and improve DIC, 11 cycles of 5-Fluorouracil and leucovorin therapy were done, and the patient survived for 12 months. Autopsy showed a 0.8 cm diameter, poorly differentiated adenocarcinoma with the signet-ring cell type in the lamina propria of the Vater's ampulla. Many metastatic foci and micro tumor emboli were found in the lung and in bone marrow. The sections of the stomach, the gallbladder, urinary bladder, prostate, and thyroid gland showed no malignant cells. These findings suggest that the origin of the cancer may have been located in the Vater's ampulla. This is a rare case of an ampullary tumor of poorly differentiated adenocarcinoma with the signet-ring cell type, without jaundice but with multiple metastasis. 5-Fluorouracil and leucovorin were effective for increasing survival time and improving quality of life.
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PMID:Poorly differentiated adenocarcinoma with signet-ring cells of the Vater's ampulla, without jaundice but with disseminated carcinomatosis. 1450 31

A combination of osteoporotic vertebral fractures and congenital spinal deformity is theoretically possible, but there have been no reports on this combination in the literature. We describe a rare case of an osteoporotic vertebral fracture adjacent to the nonsegmented hemivertebra. A 60-year-old postmenopausal woman who did not recall any specific trauma presented with severe back pain. She had markedly decreased bone mineral density and significant lumbar kyphoscoliosis with a nonsegmented hemivertebra between L1 and L2 on radiographs of the lumbar spine. Magnetic resonance imaging (MRI) revealed a vertebral fracture adjacent to the nonsegmented hemivertebra. Laboratory studies showed increased serum bone-specific alkaline phosphatase (BAP) and urinary type I collagen crosslinked N-telopeptide (NTx). A thoracolumbar brace was applied for 3 months. Daily administration of alendronate normalized her serum BAP and urinary NTx levels. MRI scans of the lumbar spine after 6 months also confirmed normalized signal intensities of the fractured vertebra adjacent to the nonsegmented hemivertebra. The vertebral fracture seemed to be induced by spinal malalignment, increased stress on the adjacent level of the fused segment, and its fragility due to osteoporosis.
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PMID:Osteoporotic vertebral fracture adjacent to a nonsegmented hemivertebra. 1455 44

A case of osteogenesis imperfecta (OI), which was successfully treated with alendronate is reported. A 41-year-old premenopausal woman with OI type I, who had frequently been experiencing fragile fractures, consulted our clinic because of back pain associated with spinal osteoporosis. She had experienced heart surgery (aortic valve replacement) due to aortic regurgitation 5 years before her first consultation with our clinic. After the surgery, she had been taking warfarin 3 mg/day, and this treatment was continued during our follow-up period. She was treated with alendronate (5 mg/day, daily) for 18 months. The bone mineral density of the lumbar spine (L2-L4) measured by dual energy X-ray absorptiometry (Norland XR-36) increased for 18 months, and back pain markedly decreased. The urinary cross-linked N-terminal telopeptides of type I collagen and serum bone-specific alkaline phosphatase, osteocalcin, and undercarboxylated osteocalcin levels also markedly decreased. No new fragile vertebral or non-vertebral fractures were observed during the 18 months of treatment. This report provides evidence indicating that treatment with oral alendronate may have the potential to decrease bone turnover, improve the lumbar BMD, reduce back pain, and prevent new fragile fractures in premenopausal women with OI type I.
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PMID:Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. 1564 30

Chronic Neutrophilic Leukemia (CNL) is a rare myeloproliferative disorder characterized by a persistent increase of mature peripheral neutrophils, myeloid hyperplasia in bone marrow, hepatosplenomegaly, elevated neutrophil alkaline phosphatase (NAP) and absence of Philadelphia chromosome, with no evidence of infection or malignancy sufficient to mimic a leukemoid reaction. CNL has been associated with multiple myelomas in many reported cases, but transition of Polycythemia Vera (PV) to CNL is very rare. An 81-year-old female patient, who had undergone intermittent phlebotomy following the diagnosis of PV 8 years previously, was admitted to our hospital due to lower back pain. A physical examination showed a splenomegaly 2 cm below the costal margin, with tenderness of the thoracic and lumbar spine area. A peripheral blood examination showed a WBC count of 91,800/microL (neutrophil 88%) with a rare immature form, hemoglobin of 9.1 g/dL and a platelet count of 1,661,000/microL. Her NAP score was 58. The bone marrow examination showed 95% cellularity, with an M:E ratio of 10:1, increased megakaryocytes with normal morphology and the absence of myelofibrosis. Chromosomal studies showed no Philadelphia chromosome. A radiological examination showed compression fractures of the vertebrae and spinal cord compression. No underlying disease causing a leukemoid reaction was detected. With iron replacement, the hemoglobin level failed to increase over 12 g/dL. Therefore, it was concluded to be a transition of PV to CNL. After administration of hydroxyurea and vertebroplasty, the symptom improved and the WBC count was sustained below 40,000/microL.
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PMID:A case of transition of polycythemia vera to chronic neutrophilic leukemia. 1568 21


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