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Patients affected

Primary biliary cirrhosis is characterized by progressive inflammatory destruction of the bile ducts. Immune-mediated inflammation of intrahepatic bile ducts results in remodeling and scarring, causing retention of bile within the liver and subsequent hepatocellular damage and cirrhosis. The number of patients affected with primary biliary cirrhosis is difficult to estimate because many people are asymptomatic and incidental diagnosis during routine health care visits is common. [Pg.327]

B9. Baronciani, L., Zanella, A., Bianchi, P Zappa, M Alfinito, E, Iolascon, A., Tannoia, N., Beutler, E., and Sirchia, G., Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. Blood 88,2306-2310 (1996). [Pg.38]

Vitamin D receptor (VDR) 1,25 dihydroxyvitamin-D3 Vitamin D response in patients affected with rickets (96) Susceptibility to osteoporosis (97) and autosomal dominant rickets disease (96)... [Pg.66]

Immunocytochemical methods were developed to detect specific antibodies in sera from patients affected by different infectious diseases. P3-HR1 cells, which express Epstein-Barr-virus-induced virus capsid antigens (VCA), were used to search for specific human IgM (class M immunoglobulins) to VCA in infectious mononucleosis patients. After treatment of cells with serial dilutions of sera, HRP-conjugated anti-IgM antibody was added and detected with CL substrate [25],... [Pg.490]

Interleukin 1 (IL-1) is produced mainly by activated monocytes-macropha-ges, and its principal action is to stimulate thymocytes. A pleiotropic cytokine, IL-1 induces the expression of a large diversity of cytokines such as IL-6, leukaemia inhibitory factor (LIF), and other proinflammatory molecules (Di-marello 1994). IL-1 and TNF-a carry out as part of their function increasing the expression of NF-/cB and JNK (c-Jun N-terminal kinase). The importance of IL-1 in OCS is demonstrated because the IL-1-receptor-deficient mouse is resistant to ovariectomy (OVX)-induced bone loss (Lorenzo et al. 1998). The importance in pathological bone loss is also illustrated by the fact that treatment with IL-1 receptor antagonist slows down bone erosion for patients affected with rheumatoid arthritis (Kwan et al. 2004). IL-1 increases osteoclast differentiation rather than mature osteoclast activity, and infusion of IL-1 into mice induces hypercalcemia and bone resorption. Finally, IL-1 and TNF-a... [Pg.175]

Mobile Medical units with Clinic for First aid treatment Laboratory Diagnostic units operating theater hospital, specifications for treatment of patients affected by chemical agents (indication, decontamination). [Pg.10]

Delle Chiaie, R., Pancheri, P., Casacchia, M., Stratta, P., Kotzalidis, G.D. and Zibellini, M. (1995) Assessment of the efficacy of buspirone in patients affected by generalized anxiety disorder, shifting to buspirone from prior treatment with lorazepam a placebo-controlled, doubleblind study. Journal of Clinical Psychopharmacology, 15,... [Pg.473]

When a normal diet is followed, biotin dehciency is rare. Clinical symptoms of dehciency are alopecia and cntaneons abnormalities snch as seborrhoeic dermatitis (especially in patients affected by phenylketonnria), periorihcial erythema, and fnngal infection. The main sonrces of biotin are liver, kidney, egg yolk, some vegetables snch as soybeans, nnts, spinach, mnshrooms, and lentils. In green plants and frnits, biotin occnrs in water-extractable forms, whereas in yeast and animal prodncts, it is a hrmly bonnd complex [417]. The variability on the amonnts of biotin in foods is due to both natural variation, bnt also to methodological problems. [Pg.625]

Clinical trials have been reported, and these are not subject to the same levels of uncertainty. They have concentrated on bone mineral density, because this parameter is an acceptable measure of bone mass, is sensitive to the occurrence of osteoporosis and correlates well with the likelihood of bone fracture in patients affected by osteoporosis. Bone mineral density is known to increase in childhood and adolescence, to reach a maximum around the age of 40, then to decline [110,111]. In women in the years immediately following the menopause, it may sharply reduce, and if it reaches a level TA standard deviations below the young adult mean value, the condition is defined by the WHO as osteoporosis [110,111]. [Pg.346]

M. Rango, M. Bozzali, A. Prelle, G. Scarlato and N. Bresolin, Brain activation in normal subjects and in patients affected by mitochondrial disease without clinical central nervous system involvement—a phosphorus magnetic resonance spectroscopy study. /. Cereb. Blood Flow Metab., 2001, 21,85-91. [Pg.153]

Table 1.4.11 Data from a patient affected with a complex I, III and IV deficiency... Table 1.4.11 Data from a patient affected with a complex I, III and IV deficiency...
Metabolically, acetyl CoA that is generated is diverted to ketogenesis, and urea cycle activity is decreased, leading to hyperammonaemia associated with fasting hypoglycaemia, increased lactataemia associated with an increased lactate pyruvate ratio, and increased ketonaemia with ratio < 1. Data from a patient affected with a PC defect are presented in Table 1.4.12. [Pg.49]

Data from a patient affected with a PDH defect are presented in Table 1.4.13. In general, hyperlactataemia (increasing with meals) associated with a normal lactate pyruvate ratio and normal ketonaemia is observed. The ketogenic diet is a rational treatment for PDH complex deficiency. [Pg.49]

Table 1.4.12 Fed and fasting state for a patient affected with a pyruvate carboxylase defect (type B)... Table 1.4.12 Fed and fasting state for a patient affected with a pyruvate carboxylase defect (type B)...
Table 1.4.15 Data from a acid transferase deficiency patient affected with succinyl coenzyme A 3-oxo ... [Pg.51]

The principle of this assay relies on the assumption that skin fibroblasts of patients affected with an FAO deficiency will accumulate certain species of acyl-CoA esters, reflecting the metabolic defect, when the cell medium is supplemented with... [Pg.193]

The patient affected with RPI deficiency exhibits high concentrations of arabitol and ribitol (method 2) and total pentitols (method 1). [Pg.476]

Tables 4.7.3 and 4.7.4 give an overview of pathological values found in patients affected with TALDO deficiency, RPI deficiency and in classical galactosaemia. In TALDO deficiency, polyol elevations are pronounced early and appear to decrease with age. Tables 4.7.3 and 4.7.4 give an overview of pathological values found in patients affected with TALDO deficiency, RPI deficiency and in classical galactosaemia. In TALDO deficiency, polyol elevations are pronounced early and appear to decrease with age.
Fig. 5.1.1 Isoprenoid biosynthetic pathway. The enzyme mevalonate kinase (black solid bar) is deficient in patients affected with mevalonic aciduria and hyperimmunoglobulinemia D and periodic fever syndrome. -CoA -Coenzyme A, HMG-CoA 3-hydroxy-3-methyl-glutaryl-coenzyme A, -PP -pyrophosphate... Fig. 5.1.1 Isoprenoid biosynthetic pathway. The enzyme mevalonate kinase (black solid bar) is deficient in patients affected with mevalonic aciduria and hyperimmunoglobulinemia D and periodic fever syndrome. -CoA -Coenzyme A, HMG-CoA 3-hydroxy-3-methyl-glutaryl-coenzyme A, -PP -pyrophosphate...
As an alternative, primary skin fibroblasts or lymphoblasts of patients suspected to be affected with a cholesterol biosynthesis defect can be cultured for 3-7 days in medium supplemented with fetal calf serum depleted of lipoproteins to induce cholesterol biosynthesis, whereupon the specific defect can be determined by sterol analysis using GC-MS as described above. This procedure will readily identify patients affected with Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, hydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia and most patients with Conradi-Hunermann syndrome (CDPX2). Patients with congenital hemidys-plasia with ichthyosiform nevus and limb defects (CHILD) syndrome may not be identified with this assay, but they can be readily diagnosed on the basis of their typical clinical presentation. [Pg.494]


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See also in sourсe #XX -- [ Pg.333 ]




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