Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between August 1980 and October 1990 we treated 36 patients with home total parenteral nutrition (HTPN) with a cumulative treatment duration of 92 years. They included 14 females and 22 males ranging in age from newborn to 75 years, with a mean of 38 +/- 21. The 4 commonest indications for HTPN were short bowel syndrome (mainly due to mesenteric occlusion (50%), inflammatory bowel disease 14%), motility disorders (14%) and malabsorption (11%). All-in-one nutritional mixtures utilizing the big-bag technique were used for all patients. Broviac or Hickman catheters were implanted in 35 patients and an infusion port in 2. Infusions were administered during the night for 8-12 hours with a volumetric pump. 14 patients are still receiving HTPN (39%) while in 8 it was discontinued as they can maintain their nutritional status by the gastrointestinal route (22%). 14 patients have died (39%), 3 from HTPN-related causes (2 of sepsis and 1 of liver failure). Catheter-related sepsis was 0.42/year of HTPN. Other common complications were metabolic bone disease, deranged liver function and cholecystolithiasis. 80% were able to return to work, school, or housekeeping activities, or at least to take care of themselves and cope with HTPN unaided. Social rehabilitation was full or partial in 72% and only 29% were house-bound and needed major assistance. Patients with a poor life quality tended to be older and suffer from intestinal diseases as a manifestation of a systemic disorder, such as atherosclerosis or malignancy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A decade of experience with home total parenteral nutrition]. 180 Feb 76

Paget's disease of bone (PDB) is a common metabolic bone disorder with a significant genetic component. To date, only one gene associated with PDB has been identified, the p62-Sequestosome1 gene (SQSTM1), and more than 20 mutations of this gene have been reported in PDB, the most common being the P392L substitution. In order to search for differentially expressed genes in PDB, we investigated the relative gene expression profile of candidate genes in osteoclast (OCL) cultures from 12 PDB patients and six unmatched healthy controls with known genetic status regarding p62, including healthy carriers of the P392L mutation. We selected 48 OCL-expressed candidate genes that may be involved in relevant pathways of PDB pathogenesis, such as OCL signaling, survival, bone resorption activity, or adhesion. In OCL cultures derived from peripheral blood mononuclear cells, total RNA extraction was performed, followed by real-time PCR experiments. Relative quantification analysis utilized the qBase method where relative expression levels were normalized with respect to a set of reference primer pairs for three housekeeping genes. When compared to non-mutated healthy controls, OCL cultures from PDB patients displayed a significant down-regulation in genes involved in apoptosis (CASP3 and TNFRSF10A), in cell signaling (TNFRSF11A), in the OCL bone resorbing function (ACP5 and CTSK) and in the gene coding for Tau protein (MAPT) (all comparisons, p<0.0001). Comparison of relative gene expression in PDB patients with P392L mutation versus PDB patients without SQSTM1 mutation did not provide significant differential gene expression. However, we observed a non-significant decrease in the expression of several genes such as IL6ST, HIF1A, OSTM1, TNFRSF-10B and -10D, PDK1, MAPT and CASP3 in healthy carriers of the P392L mutation. These results provide important information about the mis-regulated activities of pagetic OCL, and highlight the role of altered apoptosis pathways in these cells. They also suggest that the SQSTM1 P392L mutation plays a role in PDB pathogenesis, even at early preclinical stages in healthy carriers of the P392L mutation.
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PMID:Gene expression profile in osteoclasts from patients with Paget's disease of bone. 1992 94

Objectives: Bone destruction and renal impairment are two frequent complications of multiple myeloma (MM). Cystatin C, an extracellular cysteine proteinase inhibitor, is encoded by the housekeeping gene CST3 and associated with human tumors. The role of cystatin C in multiple myeloma has been revealed recently. The purpose of this study was to explore the role of cystatin C as a proteasome inhibitor in multiple myeloma. Methods : A comprehensive literature review was conducted through Pubmed to summarize the published evidence on cystatin C in multiple myeloma. English literature sources since 1999 were searched, using the terms cystatin C, multiple myeloma. Results: cystatin C is a sensitive indicator for the diagnosis of myeloma nephropathy and has a dual role in myeloma bone disease. Also, cystatin C reflects tumor burden and is strongly associated with prognosis in patients with multiple myeloma. Conclusion: Cystatin C have great diagnostic and prognostic value in multiple myeloma. It can provide a new treatment direction for MM by designing and searching for antagonists of cystatin C or cysteine protease agonists using cystatin C as a therapeutic target.
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PMID:The role of cystatin C as a proteasome inhibitor in multiple myeloma. 3325 14