Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.1.8 (cholinesterase)
 12,691 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the last two years the authors have noted the cases of five patients with pulmonary tuberculosis to which intermittent treatment with Rifampicin was administered (twice weekly, 600-900 mg/day), in association with Ethambutol. Between 2 and 6 months after the treatment was started, 24-72 hours after the last administration of Rifampicin acute renal failure developed in all five cases. Two of the patients also had signs of liver failure (increased serum transaminase, lowered pseudo-cholinesterase, increased BSP retention), and in one of them there was also a hematological syndrome consisting in hemolytic anemia and thrombocytopenia. Four of the patients benefited from application of diuretics, hydroelectrolytic re-equilibration and/or hemodialysis. One of the subjects died 12 hours after being hospitalized, with acute pulmonary oedema, refractory to treatment. From the histopathological viewpoint glomerular lesions were found in the kidney (non-uniform thickening of the basal membranes by PAS-positive deposits). In two of the patients various immunological tests have been carried out (Coombs test, lymphocyte-migration inhibition, serum and urine immunelectrophoresis) that, by their alterations, provide some elements indicating the immunological origin of the phenomena.
 ...
PMID:[Severe complications following intermittent administration of rifampicin]. 18 3

The ACHE and BCHE genes, encoding the acetylcholine hydrolysing enzymes acetylcholinesterase (ACHE) and butyrylcholinesterase (BCHE), co-amplify with several oncogenes in leukemic patients with platelet deficiency (thrombocytopenia). This and other experiments implicated ACHE and BCHE in the development of bone marrow megakaryocytes, the progenitors of platelets. Therefore, we wished to find out whether cholinesterase gene amplification would also occur in non-cancerous platelet disorders and, if so, whether oncogenes would amplify in such cases as well. The autoimmune disease systemic lupus erythematosus (SLE) presents an appropriate model system for this issue, since patients with SLE may suffer from thrombocytopenia resistant to most treatment modalities. Here, we report a 40-80-fold amplification of genomic sequences from the ACHE and BCHE genes as well as the C-raf, V-sis and C-fes/fps oncogenes in peripheral blood cells from an SLE patient with severe thrombocytopenia. PvuII restriction analysis and DNA blot hybridization of the amplified ACHE and BCHE sequences demonstrated apparent aberrations in both genes, suggesting that malfunctioning of modified, partially amplified cholinesterase genes may be involved in the etiology of thrombocytopenia associated with SLE. These observations imply that cholinergic mechanisms regulate megakaryocytopoiesis, shed new light on the diverse hematologic findings characteristic of SLE, and may become valuable as diagnostic, treatment and prognostic tools in the follow-up of patients suffering from thrombocytopenia associated with SLE. Furthermore, these findings reinforce the notion that cholinesterase gene amplifications are causally related with platelet abnormalities in multiple hemopoietic disorders.
 ...
PMID:In vivo gene amplification in non-cancerous cells: cholinesterase genes and oncogenes amplify in thrombocytopenia associated with lupus erythematosus. 137 19

To examine the pathogenesis of thrombocytopenia associated with liver cirrhosis, the platelet count, spleen size and serum cholinesterase levels were measured together with plasma concentration of beta-thromboglobulin, fibrinopeptide A and serum albumin in 38 patients with histologically proven, severe but stable liver cirrhosis. The spleen size contributed most significantly to thrombocytopenia in this disorder and the serum cholinesterase level also correlated with the platelet count, both in decompensated and compensated liver cirrhosis. Plasma beta-thromboglobulin, serum fibrinopeptide A levels and serum albumin did not correlate with the platelet count. These findings indicate that disseminated intravascular coagulation is not likely to be the cause of thrombocytopenia in liver cirrhosis. Splenomegaly as well as the diminished protein synthetic activity of the liver participates in the pathogenesis of the thrombocytopenia in this disease.
 ...
PMID:Thrombocytopenia in liver cirrhosis. 261 53

The authors investigated changes in the serum uric acid (s-UrA) level seen in a Wilson's disease patient who had to undergo oral zinc therapy because of the occurrence of D-penicillamine-induced acute sensitivity reactions, including neutrophilic agranulocytosis, thrombocytopenia, and skin eruptions. Although s-UrA levels were low before oral zinc therapy (mean +/- SD, 1.60 +/- 0.20), they increased (mean +/- SD, 2.63 +/- 0.32) to within normal range (2.8-8.0 mg/dl) after therapy. There were no significant changes in the renal tubular reabsorption of UrA during oral zinc therapy. This therapy also produced an improvement of the decreased cholinesterase (ChE) values usually seen in Wilson's disease. These results suggest that oral zinc therapy can normalize UrA metabolism in Wilson's disease by improving liver dysfunction and increasing UrA synthesis.
 ...
PMID:Oral zinc therapy normalizes serum uric acid level in Wilson's disease patients. 377 13

To determine the factors involved in the pathogenesis of thrombocytopenia frequently found in human immuno-deficiency virus (HIV) infection, we studied the clinical and laboratory findings of 35 Japanese HIV-infected hemophiliacs regarding their association with thrombocytopenia. Seventeen HIV-positive patients were thrombocytopenic. They had fewer CD4+ cells and were in more advanced stages of the disease, compared with the 18 patients without thrombocytopenia. We carried out the stepwise regression analysis on 32 patients in the early stage of HIV infection, with the platelet count as the dependent variable, and with the CD8+ cell count, serum cholinesterase, alanine aminotransferase (ALT), CD4+ cell count and white blood cell count as explanatory variables. The CD8+ cell count, serum cholinesterase, and ALT were entered into the regression model as explanatory variables of the platelet count with statistical significance. A positive linear correlation in these 32 patients between the CD8+ cell count and platelet count (r = 0.50, P < 0.01) was noted. We conclude that the decrease of the CD8+ cell count may play a role in the pathogenesis of thrombocytopenia in Japanese hemophiliacs in the early stage of HIV-infection.
 ...
PMID:The association of the platelet count and the peripheral CD8+ cell count in Japanese HIV-infected hemophiliacs. 756 68

A retrospective study of 53 patients with haematological disorders whose bacterial cultures were positive for methicillin-resistant Staphylococcus aureus (MRSA), was performed to analyse the risk factors for MRSA infection, and the prognostic factors. Sixteen patients showed colonization by MRSA but never developed infection(C), 16 showed colonization and subsequent infection(C-I), while 21 had MRSA infection at the time of first culture (I). Poor performance status, thrombocytopenia, increased serum urea nitrogen and decreased serum cholinesterase were more prominent in (I) than (C) + (C-I). The risk factors associated with the development of infection from colonization were age and serum cholinesterase. In addition, lower respiratory tract infection as a type of infection, non-remission status of the haematological malignancy and an inappropriate antibiotic therapy were associated with a poor prognosis for MRSA infection.
 ...
PMID:Methicillin-resistant Staphylococcus aureus: colonization and development of infection in patients with haematological disorders. 758 46

Hypersplenism is defined as the association of anemia, leukopenia, or thrombocytopenia with bone marrow hyperplasia and splenomegaly. Hypersplenism is common in liver cirrhosis and frequent in patients with portal hypertension. The effects of portacaval shunt are variable; hypersplenism hardly ever improves but rarely develops after surgery. Since the spleen is a major component of the mononuclear phagocyte system, splenectomy reduces antibody synthesis. Although splenectomy abolishes hypersplenism, it may lead to sepsis. Recently, partial splenic embolization, using gelform injected directly into the splenic artery, has been performed in patients with cirrhosis. Partial splenic embolization induces an increase in the number of circulating blood cells. In addition, the levels of albumin, hepaplastintest, cholesterol and cholinesterase are increased significantly after treatment. Partial splenic embolization rarely causes problems and may actually be beneficial.
 ...
PMID:[Hypersplenism in liver cirrhosis]. 811 16

The genes for acetylcholinesterase (ACHE) and butyrylcholinesterase (BCHE) are located within regions subject to non-random chromosomal abnormalities in the myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). Acetylcholinesterase is mapped to 7q22, within the critical deleted region presumed to contain a myeloid specific tumour suppressor gene. Butyrylcholinesterase is mapped to 3q26: abnormalities at this region are associated with sub-types of MDS and AML with thrombocytopenia, or with increased platelet counts. Both ACHE and BCHE have been implicated as playing a role in megakaryopoiesis and thrombopoiesis, and these genes have been observed to be co-amplified in acute myeloid leukaemia. Recent findings suggest a more significant role for the ACHE gene in haemopoiesis by regulating multipotent stem cell proliferation, and apoptosis in cells undergoing erythroid and myeloid differentiation. This led us to investigate gene copy-number alterations at these genes in MDS and AML. Samples were screened by slot-blot hybridization, and if changes were observed, by Southern blotting. A total of 42 samples from 31 de novo AML patients, 10 samples from eight cases of post-MDS AML and 85 samples from 67 MDS patients were analysed with probes for ACHE, BCHE, c-MYC, MDR-1 and globin control. Changes in ACHE and/or BCHE were observed in 9/31 de novo AML patients, and in 7/67 MDS patients: 1/37 cases of refractory anaemia (RA), 1/10 cases of refractory anaemia with excess blasts (RAEB) and 5/20 chronic myelomonocytic leukaemia (CMML) patients. The amplification events observed generated copy numbers no greater than 10, showed normal restriction patterns and had no clear correlation with megakaryopoiesis or thrombopoiesis. Loss of signal at the ACHE locus was observed: haploid signal intensity was seen in seven samples: one RA with thrombocytopenia, three CMML, one AML-M5a (no karyotypic abnormalities of chromosome 7), one AML-M4 (monosomy 7), and one case of AML-M7 (karyotype unknown). Homozygous deletion was observed at relapse of an additional patient with AML-M4. These data reinforce the possibility that ACHE may play a role as a myeloid tumour suppressor gene.
 ...
PMID:Deletion of the acetylcholinesterase locus at 7q22 associated with myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). 863 18

We report on a 77-year-old male patient who presented with an unusual myelogenous disorder exhibiting both myeloproliferative and dysplastic features. The patient suffered from leukocytosis, eosinophilia, basophilia, transfusion dependent anemia, and rapidly progressing thrombocytopenia. Classical chromosome analysis and fluorescence in situ hybridization (FISH) revealed a reciprocal t(3;5)(q26;q22). Using yeast artificial chromosome (YAC) probes, the breakpoint on chromosome 3 was localized to the butyrylcholinesterase (BCHE) gene (3q26.1-q26.2). This gene has recently been implicated in the regulation of myeloid cells. Whether the BCHE gene was also involved in the deregulation of myelopoiesis, causing the unusual clinical picture in this case, remains unknown.
 ...
PMID:Reciprocal translocation (3;5)(q26;q22) and possible BCHE gene involvement in an unusual myelogenous disorder with both myeloproliferative and dysplastic features. 1106 96

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was whether patients with liver cirrhosis have acceptable outcomes after undergoing cardiac surgery. Altogether 97 papers were found using the reported search, of which nine presented the best evidence to answer the clinical question. The author, year, journal, country of study, study type, patient group studied, relevant outcomes, results and study weaknesses were tabulated. One prospective and another eight retrospective studies involving adult population of patients with liver cirrhosis undergoing various cardiac surgical procedures were selected. In these studies, the overall mortality was 17.1% and combined mean mortality for Child-Pugh class A, B and C was 5.2%, 35.4% and 70%, respectively. The major morbidity ranged from 20 to 60% in group A and 50 to 100% in the patients with more advanced hepatic disease. Some studies have demonstrated that thrombocytopenia, decreased serum cholinesterase and high preoperative total bilirubin levels are significantly associated with worse clinical outcomes. These studies, although with small samples, collectively demonstrate that patients with Child-Pugh class A cirrhosis tolerated cardiac surgical procedures with a mild increase in mortality and morbidity. However, the risk of mortality in patients with Child-Pugh class B and C or MELD score>13 is extremely high. Nevertheless, even if these patients underwent successful surgery, their long-term survival was significantly poorer and their health status remains compromised even well after cardiac surgery because of persistent liver dysfunction.
 ...
PMID:Do patients with liver cirrhosis undergoing cardiac surgery have acceptable outcomes? 2073 5


1 2 Next >>