Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The replacement of genetically deficient enzymes in patients with inherited metabolic disorders by infusion of purified enzymes or by organ transplantation has had very limited success, although good results with bone marrow transplantation have been obtained in some patients with mucopolysaccharidosis, Gaucher disease and inherited immunodeficiency diseases. Genetic engineering of the patient's lymphocytes may ultimately render these approaches redundant, at least for some of these diseases. Treatment of chronic pancreatic insufficiency and of disaccharidase deficiency with oral enzymes can be very effective; therapy can be monitored in the latter by measuring the breath hydrogen excretion and in the former by a range of tests of which stool chymotrypsin assay is the most convenient. Treatment of acute myocardial infarction by intracoronary perfusion of thrombolytic enzymes can improve both cardiac function and long-term survival if given early enough. Successful reperfusion can be identified by changes in the kinetics of serum enzyme release and clearance, especially for the isoenzymes and isoforms of creatine kinase. In cancer chemotherapy, L-asparaginase has long been a useful adjunct in the treatment of acute lymphoblastic leukemia, but recent experience suggests a role in acute nonlymphoblastic leukemia as well.
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PMID:Enzymes as agents for the treatment of disease. 157 79

A qualitative, visually interpreted, rapid, and synthetic peptide-based anti-human immunodeficiency virus-1 (HIV) antibody immunoassay has been developed that may be of value in situations in which rapid determination of HIV-1 status is important. Because questions have been raised about the accuracy of rapid anti-HIV-1 assays, the sensitivity, specificity, interobserver and intraobserver variability of the Genie HIV-1 assay (Genetics Systems, Seattle, WA) were determined. Sera from 56 patients with HIV-1 infections documented by enzyme immunoassay and western blot tested positive by this assay. Enzyme immunoassay- and western blot-negative sera from 30 visceral organ transplant donors were negative using the Genie assay. Specificity was examined further by testing sera from 29 patients hospitalized with a variety of medical disorders, including acute bacterial pneumonia, acute myocardial infarction, monoclonal gammopathy, and high titer antinuclear or antimitochondrial antibodies. Two of these patients were reactive with the enzyme immunoassay, both of which tested negative by western blot. All 29 tested negative using the Genie assay. In addition, sera from five patients with repeatedly reactive enzyme immunoassays and negative western blots tested negative by the Genie system. There was 100% agreement in interobserver and intraobserver studies. With the western blot as the reference method, the Genie assay exhibited 100% sensitivity and specificity and there was no observer variability.
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PMID:Evaluation of a rapid peptide-based anti-human immunodeficiency virus-1 antibody immunoassay. 159 7

Cell-mediated and humoral immunity parameters were investigated at different dates of myocardial infarction and compared with the blood tests. A diagram is proposed correlating changes of immune status to blood test results, as an instrument for the assessment of changes in immune status on the basis of blood composition. Immunologic changes (defense immunodeficiency and developing cytotoxic component) associated with acute myocardial infarction, and disorders of immunologic control persisting to the time of discharge were demonstrated. Immunologic tests with specific antigens help to decipher the nature of immunity disorders detectable on the basis of blood test results.
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PMID:[Changes in the immunologic status of myocardial infarct patients at various times in its course]. 378 66

This recently recognised member of the genus Chlamydia is one of the most widespread pathogens of man, though up to 90% of infected people have few or no symptoms. Several studies have estimated the population prevalence of antibodies to C. pneumoniae at 40-55% in the northern hemisphere, and over 60% in under-developed countries. The incidence of infections follows a cyclical pattern, with peaks at regular intervals of 2-10 years, but no apparent seasonal periodicity. Nosocomial transmission may be mediated by environmental surfaces as well as aerosols, and immunosuppression, for example by the human immunodeficiency virus, predisposes to infection. Chlamydia pneumoniae causes predominantly atypical pneumonia, often severe in adults, especially the elderly; including 5-10% of community-acquired pneumonia in Scandinavian countries. Serological evidence indicates associations with asthma, bronchitis, exacerbations of chronic airflow obstruction, otitis media and bronchiolitis. Several studies, using both serological and morbid anatomical techniques, also indicate associations with vascular atheroma and ischaemic heart disease, and with acute myocardial infarction. Chronic, latent and recurrent infections have been documented, and it is postulated that, like chronic or recurrent C. trachomatis infections, these may produce disease as a consequence of the host's immunological hypersensitivity. Several techniques are available for serological diagnosis: the technique of choice is micro-immunofluorescence, using fixed whole elementary or reticulate bodies as antigen, but antibody responses are highly variable. Traditional alternatives, antigen detection (by direct immunofluorescence or enzyme immunoassay) and cell culture, have major disadvantages. Polymerase chain reactions have not yet been widely applied to the clinical setting. tetracycline antibiotics, erythromycin and quinolones are not very efficacious in the treatment of C. pneumoniae infection. The azalide antibiotic, azithromycin, and the macrolide, clarithromycin, are active in vitro against C. pneumoniae, and may become treatments of choice. The development of anti-chlamydial vaccines remains an important research goal.
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PMID:Clinical aspects of Chlamydia pneumoniae infection. 789 84

Heart donor demand far exceeds supply. We evaluated donor referrals to 1 organ procurement agency in an attempt to determine why many potential cardiac donors are not used. Of 430 referrals between September 1989 and August 1991, 169 hearts (39%) were harvested. In potential donors ultimately not yielding a heart, 38.7% were unavailable because the family refused to consent to organ donation, 36% were medically unsuitable, and 16.1% did not meet standard brain death criteria. Of the 94 donors not used for medical reasons, 43.6% had cardiac arrest, 17% had hypotension, 12.8% were drug abusers, 6.4% had sepsis, 5.3% had hepatitis, 5.3% had an acute myocardial infarction, 3.2% had low ejection fraction levels, and 2.1% tested positive for human immunodeficiency virus or syphilis (4.3% were not specified). A significant difference (p = 0.001) in racial distribution surfaced; Blacks and Hispanics constituted 27.2% of the donor group but 46.3% of the non-donor group. These data confirm that strategies must be created to continue educating the public and physicians in order to increase consent rates, optimize donor selection, and improve physician awareness of brain death criteria.
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PMID:Why referred potential heart donors aren't used. 821 25

The results of clinical trials may not reflect equally the experiences of all their individual participants. By modeling populations where patients have very diverse baseline risks of suffering an event of interest, it can be seen that very sick patients of high risk become the major determinants of how many events occur in the whole population, even though they may represent only a small minority. Human immunodeficiency virus-related trials and trials of magnesium in acute myocardial infarction are analyzed. When the benefit or toxicity from a treatment varies with the baseline risk of each patient, the treatment effect may be markedly different in populations with a different representation of high- and low-risk patients. The results of small clinical trials studying heterogeneous populations with binary outcomes depend on the sampling and outcomes of very few high risk participants. Conversely, mega-trials studying homogeneous populations would miss subgroups or individuals with diverse treatment responses. In both cases, aggregate trial results may be misleading for the care of many individuals.
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PMID:The impact of high-risk patients on the results of clinical trials. 936 16

Cardiac involvement is commonly described in autopsy examinations of patients infected with human immunodeficiency virus (HIV). However, only a small percentage have clinically significant cardiac disease. Dilated cardiomyopathy is one of the most common HIV-related heart diseases. Cardiovascular complications of HIV infection are likely to become more common with improvements in treatment and survival. Coronary thromboembolism has rarely been reported in the setting of dilated cardiomyopathy. Coronary thromboembolism should be suspected in a patient presenting with acute myocardial infarction, normal coronary arteries at subsequent angiography and a potential source of embolus. A patient presenting with acute myocardial infarction subsequently diagnosed as a coronary artery embolism due to HIV cardiomyopathy is reported. Coronary artery embolism and HIV cardiomyopathy are briefly discussed.
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PMID:Acute myocardial infarction in a young man with dilated cardiomyopathy: clinicopathological correlation. 1267 84

Cases, case series, and related articles on coronary artery disease in patients with human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS) identified through a comprehensive literature search were examined for clinical characteristics and angiographic findings of HIV-associated coronary artery disease. Among 129 identified cases, 91% were males. The mean age was 42.3 +/- 10.2 (SD) years (range, 23 to 77 years). The interval between the diagnosis of HIV infection and the diagnosis of coronary artery disease was 72 +/- 60 (SD) months. Degree of immunosuppression was variable (CD4 mean, 313 +/- 209 cells/mm3; range, 6-1070 cells/mm3). There was no correlation between the CD4 cell count and the development and progression of coronary artery disease. Similarly, the development and progression of coronary artery disease was independent of the presence of HIV-related opportunistic infections. Acute myocardial infarction was the initial presentation in 77% of patients. In 76 patients, information on diseased vessels was available: 36 (47%) patients had 3-vessel disease, 14 (18%) patients had 2-vessel disease, and 26 patients (35%) had 1-vessel disease. The left anterior descending artery was involved in 47 (62%) patients while the left circumflex and right coronary arteries were involved in 34 (45%) and 38 (50%) patients, respectively. Thirty-two (25%) patients underwent catheter-based or surgical revascularization. Data were not adequate to assess the prognosis following the acute coronary events or revascularization. The histologic characteristics unique to HIV-associated coronary arteriopathy were diffuse circumferential involvement of the vessel with an unusual proliferation of smooth muscle cells, mixed with abundant elastic fibers, resulting in endoluminal protrusions. Coronary artery disease was a late complication of AIDS.
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PMID:HIV-associated coronary artery disease. 1278 19

Atherosclerosis increases cardiovascular risk and the possibility of developing acute myocardial infarction (AMI) or stroke. Patients infected with human immunodeficiency virus (HIV) often present morphological and metabolic alterations (hypercholesterolemia, hypertriglyceridemia, insulin resistance, diabetes) that can increase vascular risk. The frequent coexistence of classic risk factors (atherogenic diet, smoking, physical inactivity, cocaine abuse), the progressive increase in mean age of HIV-1 infected patients, and the polymedication they receive make it difficult to estimate the direct effect that new therapies may have on cardiovascular risk. Retrospective clinical studies with diverse designs in large cohorts offer contradictory results for cardiovascular risk in the HIV-infected population. Longer observational periods are needed and the effect of other classic risk factors needs to be controlled, in order to establish the possible detrimental effect the new therapies may have on cardiovascular risk in this population.
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PMID:[Cardiovascular risk in patients with chronic HIV-1 infection: a controversy with therapeutic, clinical and prognostic implications]. 1475 7

A bispecific enzyme-linked signal-enhanced immunoassay (BiELSIA) was developed with markedly increased sensitivity. Antimyosin, the detection antibody, was linked to the signal probespecific antibody. Probes consisted of diethylenetriamine pentaacetic acids attached to polylysine modified with up to seven or eight horseradish peroxidase (HRP) units. Each bispecific antibody bound two polymer probes, providing twice the signal. Using BiELSIA in a competitive inhibition immunoassay format with an average of 1.5, 3, 4.5, 6, and 7.5 HRP units per polymer-probe, the sensitivity of standard enzyme-linked immunosorbent assay (10(13) mole) was increased to 10(15), 10(18), 10(19), 10(20), and 10(-21) mol (< or = 1,000 molecules), respectively. BiELSIA detected cardiac myosin heavy chain fragments in sera of patients obtained at the time of emergency department admission for acute myocardial infarction, but not in normal sera. This technology should be applicable for detection of cancer, human immunodeficiency virus, prion, and other antigens that are present in concentrations too low for detection by current immunoassays.
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PMID:Bispecific enzyme-linked signal-enhanced immunoassay with subattomole sensitivity. 1597 93


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