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)

Acute liver failure and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as abdominal pain, headaches, fever, weakness or behavioural changes). All the patients were young women (17-23 years), none of them had any history of liver disease. They were admitted with icterus, nausea, vomiting and symptoms of increasing haemolysis. The diagnosis of WD was given as disturbed copper metabolism. After a short period of observation ascites and anasarca occurred, haemorrhagic diathesis and other symptoms of liver failure increased. Levels of clotting factors decreased rapidly. Despite treatment with D-penicillamine, plasmapheresis, and symptomatic drugs, three of the women died in irreversible liver coma, due to the unavailability of liver transplantation. The fourth woman was carried to the Transplantation Centre, due to aggravation of the symptoms of liver failure, where liver transplantation was performed. Histopathologically micronodular cirrhosis was shown in all these cases. The fifth patient survived having undergone the above treatment without liver transplantation. The main differences between the patient who survived and those who died or underwent transplantation were relatively higher activity of alkaline phosphatase (26 U/l vs. 10-20 U/l), slightly higher levels of clotting factors and prothrombin time, which never fall below 68% of the control (versus 14-44% in other patients). Only in the surviving patient was the Kayser-Fleischer ring present. In four of our patients we found family members who were carriers of WD.
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PMID:Acute haemolytic syndrome and liver failure as the first manifestations of Wilson's disease. 1221 29

A 59-year-old woman presented with a 3-month history of bilateral, proximal lower-limb weakness associated with disabling pain that rendered her wheelchair-bound. There were no gastrointestinal symptoms. Clinical examination showed evidence of bilateral, proximal muscle atrophy and weakness in the lower limbs. Low serum calcium and raised serum alkaline phosphatase, coupled with radiological findings, led to the diagnosis of osteomalacia. Subsequent gastroscopy and duodenal biopsy confirmed a diagnosis of coeliac disease. With adherence to a gluten-free diet, the patient's condition remarkably improved within 3 months and she could walk pain-free using a stick. Osteomalacia and myopathy may rarely be the initial and primary presentations of coeliac disease. There are very few reports of osteomalacia as the only presentation of coeliac disease and no reports that describe such a dramatic recovery 3 months after commencing a gluten-free diet. A review of the literature regarding osteomalacia and myopathy in coeliac disease is presented.
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PMID:Disabling osteomalacic myopathy as the only presenting feature of coeliac disease. 1243 25

Cholangiocarcinoma, a malignancy of the biliary duct system, tends to grow slowly and to infiltrate the walls of the ducts, dissecting along tissue planes and leading to biliary tract obstruction. In a retrospective case review, 62 cases diagnosed with cholangiocarcinoma between January 1997 and December 2001 at the King Chulalongkorn Memorial Hospital in Bangkok were studied. The most commonly observed clinical symptoms and signs were fever (96.8%), abdominal pain (87.1%) and malaise or weakness (83.9%). Fifty-one of the 62 tumours detected were distal extrahepatic (82.3%), seven perihilar (11.3%) and four intrahepatic (6.7%). There was a significant increase in serum bilirubin and marked elevation of serum alkaline phosphatase. Almost half (45.2%) of the patients presented with other pathological conditions, mostly cholangitis (19 cases) resulting from acute biliary tract obstruction and ascites (13 cases). The pathogens detected were similar in cases of cholangitis alone and cholangiocarcinoma. The major risk factor for this cancer in Thailand is believed to be exposure to liver fluke in insufficiently cooked traditional foods. As it is still endemic in Thailand, continuous prevention and surveillance of this public health problem are necessary.
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PMID:Clinical findings among 62 Thais with cholangiocarcinoma. 1263 12

A 13-year-old, crossbreed dog presented with a history of recent onset polydipsia, progressive lethargy, weakness and reduced appetite. Blood tests showed raised concentrations of alkaline phosphatase and alanine aminotransferase with marginally low serum potassium. There was a leucocytosis with a mature neutrophilia and no eosinophils. Endocrine tests showed a normal aldosterone concentration and an exaggerated adrenocorticotropic hormone (ACTH) stimulation test, consistent with a diagnosis of hyperadrenocorticism (HAC). A diagnosis of adrenal-dependent HAC was made, based on the presence of a calcified mass involving the left adrenal gland, and hepatomegaly, on radiography and ultrasonography. The owners declined surgical adrenalectomy. Medical management with trilostane rapidly improved the clinical signs and normalised the serum chemistry. ACTH stimulation tests showed an improvement in post-ACTH cortisol concentrations and were used to make dose adjustments where necessary. At the time of writing, no adverse side effects had been seen and the dog remained well after 80 weeks of treatment.
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PMID:Trilostane treatment of a dog with functional adrenocortical neoplasia. 1265 28

Hepatozoon americanum infection is an emerging tickborne disease in the southern United States. This organism causes a very different and much more severe disease than does Hepatozoon canis, the etiologic agent of canine hepatozoonosis in the rest of the world. H americanum is transmitted through ingestion of the definitive host, Amblyomma maculatum (the Gulf Coast tick). Clinical signs of American canine hepatozoonosis tend to wax and wane over time and may include lameness, weakness, pain, muscle atrophy, fever, and mucopurulent ocular discharge. Radiographs typically reveal periosteal proliferation of various bones. Extreme leukocytosis is the most common laboratory finding, along with a mild elevation of serum alkaline phosphatase. Diagnosis is made by visualization of gamont-containing neutrophils or monocytes on examination of blood smears; observation of typical cysts, meronts or pyogranulomas on muscle biopsy; or detection of serum antibodies against H americanum sporozoites. Common complications of chronic infection include glomerulopathies, amyloidosis, and vasculitis. Although the prognosis for this disease in the past was guarded to poor, recent advances in treatment have increased the long-term survival rate of infected dogs.
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PMID:American canine hepatozoonosis. 1291 Jul 49

A case of tumor-induced osteomalacia in a 35-year-old woman suffering from severe bone pain and muscle weakness is described. This uncommon disease is characterized by a reduced serum phosphorus level with elevated urinary phosphate excretion, normocalcemia, high serum bone alkaline phosphatase and a deficiency of 1,25 dihydroxyvitamin D3. The tumors responsible for oncogenic osteomalacia are usually small, benign and commonly located in bone or soft tissues of the head and the limbs, so the diagnosis can often be difficult. In this case a 111In-pentetreotide scintigraphy was able to detect a hemangiopericytoma located in the right mascellar sinus. Removal of the tumor resulted in the reversal of clinical and biochemical abnormalities.
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PMID:A case of oncogenic osteomalacia detected by 111In-pentetreotide total body scan. 1294 4

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

A 72-year-old woman with von Recklinghausen's disease was referred to our hospital because of pain and muscle weakness in her thighs. She had elevated serum values of creatine kinase, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and aldolase. Based on these results, a diagnosis of polymyositis was made. Treatment with prednisolone improved muscle strength, and laboratory values returned to normal. Computed tomography, magnetic resonance imaging of the abdomen, and 131I-metaiodobenzyl guanidine MIBG scintigraphy demonstrated a tumor 3 cm in diameter in the region of the left adrenal gland. Endocrinologic investigation disclosed elevation of serum and urine catecholamines. Since the blood pressure was normal, nonfunctioning pheochromocytoma was diagnosed clinically. The nonhypertensive course was attributed to reduced vascular response to noradrenaline. Serum lactate dehydrogenase. alkaline phosphatase. and asparate aminotransferase became elevated, and abdominal computed tomography showed a well-defined mass measuring 13 x 12 x 10 cm in the right lobe of the liver. The patient underwent right trisegmentectomy and left adrenalectomy. Histologically the adrenal tumor was a typical pheochromocytoma. The hepatic tumor was a leiomyosarcoma consisting of elongated spindle-shaped atypical cells arranged in intersecting bundles. Immunohistochemically, the cells of this tumor were reactive for alpha-smooth muscle actin and vimentin. The leiomyosarcoma recurred and metastasized to the liver. Eight months after onset of symptom, the patient developed hepatic coma and died. The mean age at presentation with pheochromocytoma in von Recklinghausen's disease patients age is 42 years. Our patient was considerably older. To the best of our knowledge this is the first report of a patient with von Recklinghausen's disease developing polymyositis. asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma and illustrates the need to remain aware of the possibility of cancer in von Recklinghausen's disease.
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PMID:[A patient with von Recklinghausen's disease associated with polymyositis, asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma]. 1523 55

In this study, based on a rat model of human environmental exposure to cadmium (Cd), it has been examined whether low-level lifetime Cd exposure increases the risk of vertebral osteoporosis and vertebrae fractures in the elderly. For this purpose, the lumbar vertebral bodies (L4 or L3) of control and Cd-exposed (1 mg Cd/l in drinking water for 24 months) female Wistar rats were assigned to densitometric, radiographic, biomechanical (compression test), and biochemical studies, as well as to assess their dimensions and chemical composition. The exposure to Cd affected the mineral status of the L4. The decreased mineral content, density (BMD) and bone mineral area of the vertebral body together with the unchanged ratio of non-organic and organic components indicate osteoporotic nature of the Cd-induced changes. The activity of alkaline phosphatase in the L3 decreased. Cd also influenced the mechanical properties of the L4. The yield load and ultimate load decreased indicating a weakness in the vertebral body compression strength. Stiffness of the L4 decreased and the displacement at ultimate increased suggesting its enhanced susceptibility to deformities. Indeed, in the Cd group vertebral deformities (in 30% of females) or even fractures (in 40% of females), including those with disruption of bone continuity were evident. Z-score values for the L4 BMD revealed vertebral osteopenia in 30% and osteoporosis in 70% of the Cd-exposed females. The results allow for the conclusion that low lifetime exposure to Cd may become an important factor increasing the risk of lumbar spine osteoporosis with vertebral deformities and fractures in the elderly.
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PMID:Low-level exposure to cadmium during the lifetime increases the risk of osteoporosis and fractures of the lumbar spine in the elderly: studies on a rat model of human environmental exposure. 1537 91

A five-year-old female dog was presented with a four-week history of inappetence, weight loss, and skin and gait abnormalities. Physical examination revealed weakness, depression, incoordination of the posterior limbs, emaciation, skin and hair coat alterations, peripheral lymphadenopathy, pale mucous membranes and fever. Laboratory analysis of samples revealed abnormalities which included anaemia, neutrophilic leucocytosis, thrombocytopenia, low serum glucose and albumin concentrations, and increased serum alkaline phosphatase activity. The diagnosis was confirmed microscopically, by demonstrating the presence of Hepatozoon canis gametocytes within neutrophils in Giemsa-stained peripheral blood smears. Treatment consisting of toltrazuril and a trimethoprim-sulfamethoxazole combination was effective in relieving the clinical signs and clearing the blood of H. canis gametocytes. To the authors' knowledge, this is the first detailed clinical description of H. canis infection in a dog in Turkey.
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PMID:Clinical Hepatozoon canis infection in a dog in Turkey. 1560 Feb 73


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