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)

Van Buchem disease is a hereditary sclerosing dysplasia of bone. Both dominant and autosomal recessive modes of transmission have been described. The dominant form tends to be a benign disorder and symptoms are usually confined to those associated with the enlargement of the jaw. The recessive forms tend to have a greater morbidity and symptoms arise from pressure on cranial nerves by hyperostotic bone at the base of the skull. Patients of the dominant families have often had a torus palatinus. No haematological changes are found. The alkaline phosphatase may be raised--even if the total level is not elevated, the bone fraction may be increased. The radiological appearances are regarded as characteristic. The jaw is enlarged and thickened to an extent not seen in other bone dysplasias such as osteopetrosis. The cortices of the diaphyses are thickened and the medullary cavities are encroached upon but not obliterated. Abnormal modelling of the bone ends is not found in van Buchem disease. In long bones the distribution is predominantly diaphyseal but the bone ends are also affected.
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PMID:Van Buchem disease. 19 95

Malignant degeneration of fibrous dysplasia is rare. It occurs with similar frequency at all ages and in both sexes. It is more frequent in cases of polyostotic than in monostotic fibrous dysplasia. In cases of fibrous dysplasia that do show malignant degeneration it is common to find that a high level of alkaline phosphatase persists in the serum, even in adults. Previous radiotherapeutic treatment appears to me a predisposing factor. Osteosarcoma is the most frequent neoplasm, followed at some distance by fibrosarcoma and chondrosarcoma. The tumour is most often localised in the femur; it is not unusual to find it in the tibia, maxilla and mandible. The treatment and prognosis are the same as those of the involved malignant neoplasm.
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PMID:Malignant degeneration in fibrous dysplasia (presentation of 6 cases and review of the literature). 29 46

Hyperostosis generalisata with striations of the bones falls within the large group of sclerotic bone dysplasias and is characterised by a marked widening of cortical bone, sclerosis of the base of the skull, and dense striations in the cancellous bone. All the bones of the skeleton, with the possible exception of the vault of the skull, may be involved to some extent. A milder form exists in which thickening of cotrical bone occurs, mainly in the long bones of the limbs and striations are absent. The disorder has never been described in the female. Apart from a slight elevation of the serum alkaline phosphatase in some patients, no significant biochemical changes and no impairment of intelligence, growth, or life expectancy have been found. The diagnosis is made entirely on its radiological features. Its occurrence in four members, covering two generations, and three members, covering three generations, of two related families is described. A possible relationship to progressive diaphyseal dysplasia (Camurati--Englemann disease) is discussed.
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PMID:Hyperostosis generalisata with striations of the bones, a further report in two related families. 42 29

Six patients with chronic renal disease and variable degrees of renal osteodystrophy were treated for three weeks with either 1alpha,25-dihydroxyvitamin D3 (1alpha25(OH)D3) or 1alpha,hydroxyvitamin D3 (1alpha(OH)D3) and both the biochemical and osseous responses measured. The most consistent changes seen were an increase in serum calcium concentration to normal, a decrease in immunoreactive parathyroid hormone toward normal, an increase in the extent of the calcification front and a decrease in the extent of fibrous dysplasia in the marrow cavity. Two important parameters which did not change significantly were serum alkaline phosphatase activity and the osteoid volume. These data, in conjunction with that from previous studies, indicate that therapy with 1alpha,25(OH)2D3 or 1alpha(OH)D3 does not heal the osteomalacia of renal osteodystrophy, but that it does suppress the secondary hyperparathyroidism, and ameliorate the osteitis fibrosa seen in patients with chronic renal disease. They raise the likelihood that additional factors, such as metabolites of vitamin D other than 1alpha,25(OH)2D3, play a role in regulating bone formation and/or mineralization.
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PMID:The effect of 1alpha(OH)D3 and 1alpha,25(OH)2D3 on the bone in patients with renal osteodystrophy. 62 25

Activities of the lysosomal enzymes, cathepsin B1 (CBI), beta-glucuronidase, and beta-N-acetyl-D-glucosaminidase, as well as sialyl transferase, alkaline phosphatase, and placenta-like alkaline phosphatase, were determined on blind-coded serums from 99 women exposed to diethylstilbestrol (DES) in utero and 40 unexposed subjects of comparable age range. Cathepsin B1 averaged 100%, 1040% (P less than 0.001), 2720 % (P less than 0.001), and 4760% (P less than 0.001) of controls in DES-exposed women with no genital tract abnormalities (N = 11), adenosis (N = 68), adenosis with concomitant dysplasia (N = 15), and clear-cell adenocarcinoma (N = 5), respectively. The later two groups also exhibited 0.01). Activities of the other four enzymes in serums of DES-exposed women were unchanged from those controls, suggesting that alterations in CBI were not due to generalized increases in lysosomal membrane instability or other gross cellular damage. In 2 DES-exposed women with clear-cell adenocardinoma, from whom serial samples were available, preoperative levels of serum CBl fell from a mean of 4280% to values indistinguishable from controls by 7--12 days after tumor excision, concurrently with objective signs of remission. Recrudescence of serum CBI levels preceded by at least 3 months clinical evidence of persistent adenosis accompanied by vaginal dysplasia. Although the nature of the increments in CBI-like activity in the majority of subjects with DES-related pathology remains to be determined, the findings may complement present methods of physical diagnosis and prognosis.
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PMID:Elevated serum cathepsin B1 and vaginal pathology after prenatal DES exposure. 70 88

The clinical and biochemical features of four adults with Engelmann's disease (Camurati-Engelmann disease; progressive diaphyseal dysplasia) are presented. One young patient, with a particularly severe form of the disease, is discussed in detail. Biochemical abnormalities were found in three of the patients. In two of them, one with localized hyperostosis and one with generalized bone disease, the only changes were an increase in the plasma alkaline phosphatase and urinary total hydroxyproline excretion. The most severely affected patients, who had had progressive and generalized bone disease from age two and a half years, also had persistent hypocalcaemia and hyperphosphataemia, a positive calcium balance, and a very low urine calcium excretion. It is suggested that some patients with Engelmann's disease may have a previously unrecognized metabolic disorder associated with increased retention of calcium and excessive bone formation. The possible role of abnormal phosphate metabolism in this increased formation of bone, and the relationship of Engelmann's disease to other hyperostoses, are discussed.
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PMID:Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia). 86 79

Four cases of familial bone dysplasia with hyperphosphatasaemia were treated with synthetic human calcitonin. Prior to therapy, all four cases were characterized by marked bone deformity, pain, tenderness and elevated levels of serum alkaline phosphatase and urinary hydroxyproline. Treatment with calcitonin produced in each case a striking clinical, biochemical and radiographic remission. Pain and tenderness was greatly diminished and urinary hydroxyproline and serum alkaline phosphatase levels were significantly decreased. Radiographic regression of the bony abnormalities was apparent as early as 4 1/2 months after the start of treatment. Prior to therapy bones exhibit no real organization. After calcitonin treatment, the radiographic appearance of a normal cortex and medullary cavity was clearly evident for the first time.
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PMID:Hereditary bone dysplasia with hyperphosphatasaemia: response to synthetic human calcitonin. 105 83

An unusual isoenzyme pattern of serum alkaline phosphatase was found in a patient with skeletal abnormalities due to multiple epiphyseal dysplasia and it was demonstrated that the abnormal pattern was caused by complex formation between serum alkaline phosphatase and immunoglobulin G of the lambda class. Physicochemical studies of the patient's serum alkaline phosphatase showed the properties of an osseous enzyme. Evidence was obtained indicating that the complexing occurred in vitro and that the patient's immunoglobulin G had the ability to bind the hepatic and osseous isoenzymes selectively but not to bile, placental and intestinal isoenzymes. No abnormality was detected in the leucocyte isoenzyme pattern. The relationship between the occurrence of complex formation and the patient's bone disease was not established.
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PMID:Serum alkaline phosphatase isoenzymes linked to immunoglobulin G. 119 8

The effects of prolonged exposure to ammonia vapour on the histological pattern and enzymatic activity of the respiratory nasal mucosa of 75 adult male mice were investigated and compared with a control group. In the exposed animals, the nasal epithelial cells showed patches of squamous metaplasia, dysplasia, and even malignant changes in the nose of 2 animals. As regards the histochemical changes, the apical border of epithelial cells showed increased succinic dehydrogenase activity denoting increased energy production. The acid phosphatase activity was also higher, and this seemed to be a constant feature in metaplastic and neoplastic transformation. The alkaline phosphatase activity was detected only in the basal parts of epithelial and goblet cells, which was attributed to an increased activity of basal cells to form a thicker basement membrane. The periodic acid Schiff's reaction was weak in the cilia due to their partial degeneration. Prolonged exposure to ammonia interfered with the normal physiological mucociliary action resulting in accumulation of particulate matter initiating or promoting a neoplastic process.
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PMID:The effect of ammonia on the respiratory nasal mucosa of mice. A histological and histochemical study. 160 3

A combined diagnostic system for human papilloma virus (HPV) infections comprising the Papanicolaou test and in-situ hybridization assay was evaluated. Cervical smears from 259 women obtained with a "Cytobrush" were screened. Human papilloma virus genotypes 6/11, 16/18, 31/35/51 were detected by biotin in-situ hybridization in conjunction with a streptavidin-alkaline phosphatase detection complex. The diagnostic sensitivity of this assay was tested by human papilloma virus-DNA-positive human cervical carcinoma cell lines. According to the cytological (Bethesda system) and colposcopical criteria a random control group (n = 80) and prevention (n = 179) were chosen. Compared with Papanicolaou tests the frequency of human papilloma virus-DNA-positive cervices rose with the severity of cell abnormalities. The detection rate of human papilloma viruses-16/18 and human papilloma viruses-31/35/51 and of concomitant infections with human papilloma viruses-6/11 and human papilloma viruses-16/18 and/or human papilloma viruses-31/35/51 increased with the severity of cell dysplasia, whereas the rate of human papilloma virus-6/11 DNAs decreased. The incidence of oncogenic human papilloma virus types 16/18 and 31/35/51 rose with the age of the patients. A follow-up study by Papanicolaou tests of patients with mild (slight) and moderate dysplasias six months after human papilloma virus-DNA-hybridization indicates that human papilloma virus-16/18 DNA-positive lesions are more likely to persist or to progress than human papilloma virus-6/11 DNA-positive cell changes. Human papilloma virus-31/35/51 DNA-positive cell smears exhibited persistent behaviour. Our findings demonstrate that the Papanicolaou test combined with in-situ hybridization is suitable for early diagnosis and prevention of intraepithelial neoplasias and carcinomas of the uterine cervix.
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PMID:Papanicolaou test and enzyme-linked in-situ hybridization. A combined diagnostic system for papilloma virus infections with high prognostic value. 164 54


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