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)

A 1-year-old neutered male chinchilla (Chinchilla lanigera) was presented with emaciation and a 1-month history of progressive weight loss. The animal was bright and responsive on clinical examination, but had poor body condition. Serum biochemical analysis revealed elevated alanine amino transferase and alkaline phosphatase. Ultrasound examination was unremarkable. Thoracic radiography showed changes consistent with bullous emphysema and severe pneumonia. Antibiotic therapy was initiated, but the chinchilla died 6 weeks later. Necropsy examination revealed granulomatous lesions in the lungs and liver. Numerous acid-fast bacilli were present in the cytoplasm of macrophages. Sequencing of genetic material isolated from fixed tissue classified the pathogen as Mycobacterium genavense.
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PMID:Disseminated Mycobacterium genavense infection in a chinchilla (Chinchilla lanigera). 2481 53

We compared the effects of treatment with fluorapatite-forming calcium phosphate cement (FA-forming CPC) containing tricalcium silicate (TCS) and those of mineral trioxide aggregate (MTA), the gold standard endodontic cement, on cultured osteoblast-like cells (ROS 17/2.8 cells; ROS cells). The FA-forming CPC powder consisted of 61.29% CaHPO4, 32.26% CaCO3, and 6.45% NaF. One part TCS was combined with nine parts FA-forming CPC powder to make FA-forming CPC with TCS. A 1.5-M phosphate solution was mixed as a cement liquid with a powder/liquid ratio of 2.22. Cell culture was carried out using cell culture inserts, whereby each test material was put on a porous membrane insert in the cell culture plate. Proliferation, morphologic changes, and alkaline phosphatase activity in ROS cells were measured in the presence of FA-forming CPC with TCS and MTA and compared. The logarithmic growth phase and cellular morphologic changes in ROS cells were identical in all experimental groups. Additionally, no significant difference in alkaline phosphatase activity was noted in ROS cells exposed to FA-forming CPC with TCS and those exposed to MTA. In conclusion, FA-forming CPC with TCS has characteristics identical to those of MTA under the present experimental conditions and may thus be useful for endodontic applications.
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PMID:Effect of a novel fluorapatite-forming calcium phosphate cement with calcium silicate on osteoblasts in comparison with mineral trioxide aggregate. 2580 5

Hypophosphatasia is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity. The prognosis for the infantile form is poor, with approximately 50% of patients dying within the first year of life from respiratory failure. We describe the clinical and biochemical findings as well as the molecular analysis of a Korean boy with infantile hypophosphatasia and present a literature review. A 1-month-old boy visited the clinic because of poor feeding, frequent vomiting, hypotonia, and failure to thrive from birth. Laboratory tests revealed high total calcium, low phosphorous, low alkaline phosphatase, low parathyroid hormone, and normal 25-hydroxyvitamin D. Intravenous hydration with normal saline was started, and dietary calcium intake was restricted. Skeletal X-rays showed a markedly increased distance of the anterior fontanelle, impaired mineralization, and rachitic changes in the metaphyses. By Sanger sequencing of the ALPL gene, we identified two heterozygous variants, including a missense (c.334G>A; p.Gly112Ser) and a nonsense (c.1039C>T; p.Gln347*) variant. The c.334G>A (p.Gly112Ser) variant had previously been reported in a patient with lethal type hypophosphatasia, while the nonsense c.1039C>T (p.Gln347*) variant was novel. In the current case, the accurate diagnosis and prompt intervention-including dietary calcium intake restriction, tracheostomy to prevent progression to respiratory failure, and fundoplication with gastrostomy to ensure the administration of adequate calories-seemed to play an important role for avoiding preventable morbidity and premature mortality.
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PMID:First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. 2731 57


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