Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Preparation of a pure autoantigen by way of recombinant DNA technology has an important value in an accurate diagnosis or prognosis of an autoimmune disease. BCOADC-E2 subunit, a mitochondrial protein, has been known to be the autoantigen of primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, as well as idiopathic dilated cardiomypathy (IDCM), a chronic autoimmune heart disease. Recombinant form of this molecule had been expressed in E. coli but with low yield and severe degradation. Furthermore, sera from IDCM patients failed to recognized BCOADC-E2 molecule produced in prokaryotic expression system. In this study, a recombinant bovine BCOADC-E2 fusion protein has been expressed in insect cells using baculovirus expression system and analyzed anti-BCOADC-E2 reactivity in sera from patients with PBC or with IDCM. Optimal production of the recombinant fusion protein has been achieved at 20 multiplicity of infection (MOI), and the protein was affinity-purified using metal-binding resins. The affinity-purified BCOADC-E2 protein was successfully recognized by sera from PBC patients, but not by sera from IDCM patients suggesting that the different auto-immune response against BCOADC-E2 is needed to be elucidated in terms of epitope recognition.
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PMID:Expression of a recombinant branched chain alpha-oxo acid dehydrogenase complex E2 (BCOADC-E2) in insect cells and its immunoreactivity to autoimmune sera. 987 25

Heart transplantation is a universally accepted procedure in the treatment of terminal heart diseases. However, the presence of advanced liver disease in the potential receptors represents a contraindication for heart transplantation. On the other hand, the true diagnosis of liver disease not secondary to heart disease may be difficult requiring confirmatory liver biopsy. Nonetheless, percutaneous liver biopsy may be difficult to perform due to presence of coagulation alterations, marked dilatation of the hepatic veins, etc. The aim of this study was to evaluate the efficacy and safety of transjugular hepatic biopsy in the presence of severe coagulopathy in potential heart transplantation receptors with suspicion of liver disease and contraindication of percutaneous liver biopsy. Over a 9-year period, 350 potential heart transplantation patients were evaluated. In 23 patients (6.7%) transjugular hepatic biopsy was performed with aspiration needle followed by a hemodynamic study in 17 cases. The transjugular hepatic biopsy was completed in 22 cases (95.6%) with adequate material for the diagnosis being obtained in 21 (91.3% of the total cases indicated). Histologic study showed significant inflammatory infiltrates or alteration of the hepatic architecture in 4 patients (18%), all being positive for some viral markers (AgHBs or anti-HCV). The obtaining of a certain histologic diagnosis modified the consideration of liver disease as a definitive contraindication and allowed the performance of heart transplantation in 17 patients (73.9%). No complications were observed in association with the procedure. The transjugular hepatic biopsy is a feasible, effective and safe alternative for obtaining liver tissue in patients under evaluation for heart transplantation with suspicion of severe liver disease. The establishment of a correct histologic diagnosis may modify the clinical decision in an important number of patients.
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PMID:[The usefulness of transjugular hepatic biopsy in the evaluation of liver disease in candidates for heart transplantation]. 1019 89

Liver transplantation in pediatric patients represents about 10% of a total of 23,000 transplantations registered in the European Liver Transplantation Register (ELTR)since 1968. The pediatric patients show a specific spectrum of indications with cholestatic liver disorders ranking first, followed by hepatic based metabolic disorders. There has been a significant improvement of survival in transplantation since the early 80ies. The overall survival standard is nowadays in the range of 80%. There is a trend towards even better results in metabolic disorders. The clinical presentation of liver disease caused by metabolic disorders shows a wide range from acute liver, cerebral, cardiac and renal failure to chronic end stage liver, kidney and heart disease potentially complicated by hepatocellular carcinoma. In many cases, the diagnosis of a underlying metabolic disorder is very difficult and time consuming so the decision to do a liver transplantation may be necessary before a final diagnosis is established. Having these problems in mind, the consideration of absolute and relative contraindications for liver transplantation in metabolic disorders is even more difficult than it is already in cholestatic or inflammatory liver disorders. The individual evaluation of a patient suffering from a hepatic metabolic disorder must consider in addition the often dramatic restriction of quality of life due to rigorous dietary restrictions or other therapies. This makes clear that suitable methods to measure quality of life must be developed and applied in order to fulfill this goal. The extension of indications for liver transplantation even to disorders with only partial defects in otherwise healthy livers was possible by using innovative surgical techniques such as partial, living related, split, in situ split and auxiliary orthotopic transplantation. These techniques allowed to reduce the mortality on pediatric waiting lists significantly without restricting the general donor pool. However, living related liver transplantation is handicaped by the heterozygous status of the parent donor. This plays a role especially in patients with progressive familial intrahepatic cholestasis (PFIC) and Wilson's disease.
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PMID:Liver transplantation in metabolic disorders. 1054 96

Genetic hemochromatosis is an autosomal recessive disease, characterized by an increased iron absorption, leading to progressive iron overload. The fully expressed phenotype comprises fatigue, skin pigmentation, liver disease with hepatomegaly, cirrhosis and hepatocellular carcinoma, and diabetes. Arthralgias are frequent, cardiopathy or impotence may occur. This presentation is now unfrequent with earlier diagnosis, and patients are often asymptomatic--with only biochemical expression--or pauci-symptomatic (mild fatigue, arthralgias or increased transaminases). Transferrin saturation is always increased. Serum ferritin is proportional to iron burden. Diagnosis is now easy, since most patients are homozygote for the C282Y mutation of the HFE gene. Liver biopsy can be useful to quantify iron overload and assess liver fibrosis. The disease can be lethal due to liver disease, carcinoma or heart disease, but life expectancy goes to normal if patients are treated before the occurrence of cirrhosis. Treatment relies on regular venesections. Familial screening is essential.
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PMID:[Diagnosis and treatment of genetic hemochromatosis]. 1086 97

Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have demonstrated a high prevalence of C282Y homozygotes of approximately 1 in 300. Despite this high prevalence by genetic testing, the clinical diagnosis of hemochromatosis and mortality from the disease are much less common. One possibility is the presence of many undiagnosed cases with nonspecific symptoms, and deaths occurring that are attributed to liver disease, diabetes, and heart disease without the recognition of iron overload secondary to hemochromatosis. Another possibility is a high prevalence of nonexpressing homozygotes. In this review, the available data on nonexpressing C282Y homozygotes is collected including information on pathogenesis, environmental interactions, and implications for population screening using genetic testing.
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PMID:Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases? 1100

A clinically useful, treatment-based classification of pulmonary hypertension divides the disease into 5 distinct categories: (1) pulmonary hypertension associated with disorders of the respiratory system and/or hypoxemia; (2) pulmonary venous hypertension; (3) chronic thromboembolic disease; (4) pulmonary arterial hypertension; and (5) pulmonary hypertension due to disorders directly affecting the pulmonary vasculature. Pulmonary arterial hypertension includes individuals with primary pulmonary hypertension, congenital heart disease, connective tissue disease, and liver disease. These heterogeneous diseases have similar characteristic pathological changes, including in situ thrombosis, smooth muscle hypertrophy, and intimal proliferation. Right heart catheterization is essential to confirm diagnosis, determine prognosis, and assign therapy. A minority of patients have a favorable response to an acute vasodilator trial and long-term benefit with calcium channel blocker therapy. Continuous intravenous epoprostenol improves symptoms and survival in patients with advanced primary pulmonary hypertension and has potential benefit in other forms of pulmonary arterial hypertension. Lung transplantation remains an important option for individuals in whom maximal medical therapy fails. The recent discovery of the gene for familial primary pulmonary hypertension and the increase in new drugs undergoing clinical trials are encouraging developments.
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PMID:Pulmonary hypertension. 1140 96

Mortality was analyzed for an automotive engine foundry and machining complex, with process exposures derived from department assignments. Logistic regression models of mortality odds ratios (ORs) were calculated for 2546 deaths, and numbers of work-related deaths were estimated. Lung cancer mortality in the foundry was increased where cleaning and finishing of castings was performed (OR, 1.7; 95% CI, 1.15 to 2.4 [at mean exposure duration of exposed cases]) and in care-making after 1967 (OR, 1.5; 95% CI, 1.11 to 2.0). Black workers had excess lung cancer mortality in machining heat-treat operations (OR, 2.5, 95% CI, 1.4 to 4.3) and excess nonmalignant respiratory disease mortality in molding (OR, 2.5; 95% CI, 1.16 to 5.5) and core-making (OR, 2.7; 95% CI, 1.25 to 5.8). Stomach cancer mortality was elevated among workers with metalworking fluid exposures in precision grinding (OR, 2.4; 95% CI, 1.14 to 5.1). Heart disease mortality was increased among all workers in molding (OR, 1.6; 95% CI, 1.09 to 2.3), as was stroke mortality among workers exposed to metalworking fluids (OR, 1.8; 95% CI, 1.22 to 2.7). Malignant and nonmalignant liver disease mortality was elevated in assembly/testing and precision grinding. In this modern foundry, 11% of deaths were estimated to be work-related despite it's being largely in regulatory compliance over its 40-year existence. Machining plant exposures accounted for 3% or more of deaths there.
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PMID:Mortality at an automotive engine foundry and machining complex. 1138 84

To establish a practical weight management program for mariners in the Japan Maritime Self-Defense Force (JMSDF) Fleet Escort Force, the relationship between morbidity and body mass index (BMI) was studied. To estimate morbidity, 10 medical problems were used as indices (hyperlipidemia, hyperuricemia, diabetes mellitus, lung disease, heart disease, upper gastrointestinal tract disease, hypertension, renal disease, liver disease, and anemia). A curvilinear relationship was found between morbidity and BMI, in which a BMI of 17.5 was associated with the lowest morbidity. This curvilinear pattern was more complex than a curve reported previously for Japanese civilians. Using the present curve and aiming for a BMI of 17.5 will help in the design and implementation of a practical management program for health promotion in the JMSDF.
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PMID:Relationship between morbidity and body mass index of mariners in the Japan Maritime Self-Defense Force Fleet Escort Force. 1151 16

The content of body iron is regulated primarily by absorption since humans have no physiological mechanism by which excess iron is excreted. This regulation, however, is not absolute. Many factors such as the content of diets, iron doses, life styles, etc. influence iron absorption. In the past, nutrition programs for iron fortification and the ingestion of iron preparations have been widely practiced because of the seriousness of worldwide iron deficiency. Also, we now know that a significant number of asymptomatic people carry the hemochromatosis gene, HFE, indicating that these people have the potential to accumulate excess body iron in their lifetime. Excess body iron can be highly toxic. This toxicity involves many organs leading to a variety of serious diseases such as liver disease, heart disease, diabetes mellitus, hormonal abnormalities, dysfunctional immune system, etc. The tissue damage associated with iron overload is believed to result primarily from free radical reactions mediated by iron. Iron is an effective catalyst in free radical reactions. The diseases associated with iron overload can be managed effectively or prevented. Therefore, early diagnosis of iron overload and appropriate therapy are critical. By providing the necessary laboratory data, clinical chemistry laboratories can play the pivotal role in the management of these health problems.
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PMID:Chronic iron overload and toxicity: clinical chemistry perspective. 1151 32

Previous studies have suggested a relationship between reproductive history, pregnancy and birth factors, and the risk of neuroblastoma. We conducted a case-control telephone interview study that included a total of 504 children under the age of 19 years with newly diagnosed neuroblastoma identified by two national collaborative clinical trials groups, the Children's Cancer Group and the Pediatric Oncology Group. A total of 504 controls, matched to cases on age, were identified by random digit dialing. Conditional logistic regression was used to estimate the matched odds ratio (OR) and 95% confidence interval (CI) with adjustment for household income, and maternal race and education. In addition, case subgroups defined by age at diagnosis, tumour MYCN oncogene amplification status, and stage were evaluated. A suggestive pattern of increased risk was seen for a greater number of prior pregnancies, history of previous miscarriages and induced abortions, with nearly a twofold increase in risk for two or more prior induced abortions (OR = 1.9, 95% CI [1.0,3.7]). No association was found for the following diseases or conditions during pregnancy: hepatitis, rubella, measles, mumps, chickenpox, mononucleosis, vaccinations, morning sickness, pre-eclampsia, bleeding, proteinuria, anaemia, urinary tract infections, heart disease, kidney disease, liver disease and diabetes. A weak association was found for hypertension during pregnancy. Several labour and delivery factors were related to an increased risk, including threatened miscarriage, anaesthetic during labour (specifically epidural) and caesarean delivery. We found associations between premature delivery (<33 weeks: OR = 1.9, 95% CI [0.7,4.8]), very low birthweight (<1500 g: OR = 2.6, 95% CI [0.7,10.3]) and risk of neuroblastoma. There was no consistent pattern of increased risk found for most factors within subgroups defined by age at diagnosis, stage or MYCN status.
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PMID:Association of pregnancy history and birth characteristics with neuroblastoma: a report from the Children's Cancer Group and the Pediatric Oncology Group. 1170 80


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