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)

Hypertrophic osteoarthropathy and hypophosphatemic osteomalacia are both associated with neoplasm and unusual clinical syndromes. Although the etiologies of these conditions are unknown, their clinical courses are interesting, so we are reporting two cases of these conditions separately. Case 1: A 20-year-old man had an osteogenic sarcoma originating in the 2nd thoracic vertebra which was developing in the mediastinal region. He had complained of numbness and swelling in the left arm and of clubbing of the fingers of both hands. A chest radiograph showed a billiard-ball-sized, round opacity in the left upper mediastinal region. Periosteal new bone formation was demonstrated symmetrically in both humeri, radii, ulnae, femurs, tibiae, fibulae and metacarpals. Case 2: A 30-year-old man had complained of lower back, hip, knee and ankle pain and muscle weakness of five years' duration and was admitted to the National Yokosuka Hospital. Surum phosphorus was 0.7 mg/dl, alkaline phosphatase was 24.9 K.A. and glucosuria was noted. He had a fibrous xanthoma on the right thigh, and after removal of the tumor, his symptoms improved dramatically and pertinent laboratory data returned to normal. However, ossification of the ligaments of the spine subsequently developed.
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PMID:[Hypertrophic osteoarthropathy and hypophosphatemic osteomalacia associated with tumor]. 345 94

Nineteen consecutive patients of pyogenic liver abscess (13 males, 6 females, mean age 45.2 +/- 6, 5 years) were studied over a period of 5 years for the clinical profile and therapeutic efficacy of percutaneous aspiration. Majority of them presented with spiking fever (94.7%), pain over right upper quadrant of abdomen (53.8%) and often with prostration and shock (31.6%). The onset has been rather acute in patients with multiple abscesses (7 cases). Ascites (10.5%), clubbing of fingers (15.8%) and splenomegaly (10.5%) were observed in cases with long duration of illness. There has been the polymorphonuclear leucocytosis (89.5%) and mild to moderate anaemia (52.6%). Jaundice (42.1%) was usually mild degree (serum bilirubin 4.6 +/- 2.4 mg/dl). The serum transaminases and alkaline phosphatase were raised in 94.9% of cases. Ultrasonography revealed predominantly hypoechoic (54.1%) areas with frequent distal acoustic enhancement and internal echoes (21.6%). Seven patients had multiple abscesses with 25 lesions (size 5.2 +/- 4.6 cms) situated mainly over antero-inferior segment of the right lobe (45.9%) of the liver. The blood and pus cultures demonstrated the micro-organisms (positive in 63.9% and 86.6% respectively) predominantly of bowel flora including facultative gram negative rods and anaerobes. Mortality was 26.5% and pleuro-pulmonary complications were the commonest (26.4%) one. 15 cases were treated by percutaneous aspiration, proper antibiotic and metronidazole with encouraging results (only two deaths). Complete resolution of abscess took place in 14.2 +/- 1.2 weeks (range 6 weeks to 7.5 months). It is emphasized that percutaneous needle aspiration is useful both for diagnosis and treatment of pyogenic liver abscess.
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PMID:Clinico-therapeutic profile of pyogenic liver abscess. 822 94

A 5-year-old Chinese girl with 1-year history of progressive jaundice, steatorrhoea and pruritus was referred. Physical examination showed failure to thrive, marked jaundice, finger clubbing and hepatomegaly. There was laboratory evidence of cholestatic jaundice and autoimmunity, with marked elevation of alkaline phosphatase (ALP) and gamma-glutamyl transferase (gammaGT). Histology of percutaneous liver biopsy revealed hepatitis around the portal triad, as well as features of liver cirrhosis. Primary sclerosing cholangitis (PSC) overlapping with autoimmune hepatitis (AIH) was suspected. Endoscopic retrograde cholangiopancreatography (ERCP) was not feasible as there was no weight-appropriate ERCP scope available. Magnetic resonance cholangiopancreatography (MRCP) was performed and revealed areas of irregularity and slight attenuation of the right and left hepatic ducts, representing stricturing, in keeping with PSC. PSC/AIH overlap syndrome was diagnosed in this child in which MRCP has contributed to its diagnosis.
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PMID:Autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome in a child: diagnostic usefulness of magnetic resonance cholangiopancreatography. 1581 80

Bone turnover impairement and low bone density in 25-year-old man with active celiac disease was presented. The patient refused gluten-free diet compliance and clinically showed doughy abdomen, hyperpigmentation, finger clubbing and koilonychia. In serum, we obtained about 2-fold of formation markers (osteocalcin, bone alkaline phosphatase) and and 5-fold higher levels of resorption marker (collagen type I crosslinked C-telopeptide). The concentration of osteoprotegerin was slightly above normal range. We observed the trace amounts of 25-(OH)D in serum whereas the level of parathormone was 2-fold higher than in controls. Serum calcium and phosphorus were often below normal range. In dual X-ray absorptiometry (DXA) whole-body bone density was remarkably reduced. Our results suggest, that on gluten-containing diet the patient will develop lower bone mineral density and higher risk of fractures and skeletal deformities.
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PMID:[The impairement of bone formation and resorption in 25-year-old man with neglected celiac disease]. 1623 29

Primary pachydermoperiostosis (PDP) is a rare syndrome, characterized by digital clubbing, periostosis, and pachydermia. We have evaluated biochemical bone turnover markers, including components of interleukin-6 (IL-6) and osteoprotegerin/receptor activator of nuclear factor (NF)-kappaB ligand (OPG/RANKL) systems, in an 18-year-old man affected by primary PDP. The acute phase of the disease was characterized in our patient by high serum levels of IL-6 and RANKL. The observed high serum levels of these parameters are associated with increased values in markers of bone resorption (degradation products of C-terminal telopeptides of type-I collagen and urinary hydroxyproline/creatinine ratio) and reduced serum levels of bone alkaline phosphatase, a marker of bone formation. Serum levels of osteotrophic hormones were in the normal range. Our data suggest that, despite the radiographic findings, the acute phase of primary PDP is characterized by increased bone resorption, probably mediated by IL-6 and RANKL.
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PMID:Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis. 1846 59