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)

We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A-V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.
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PMID:Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. 765 92

Q fever is a widespread disease caused by the rickettsia Coxiella burnetii, an obligate intracellular bacteria which man usually acquires through the inhalation of infected dust from subclinically infected animals. Q fever may be acute or chronic. The chronic form mostly presents as endocarditis, which is difficult to diagnose and may ultimately be fatal. Immunocompromised conditions and underlying heart disease are the most important risk factors to consider in cases of Q fever endocarditis. The ultimate diagnosis is based on specific diagnostic tests which include serology, demonstration of C. burnetii in valvular material, isolation of C. burnetii from blood and tissue samples by cell-culture techniques as well as amplification and detection of the bacterial DNA by polymerase chain reaction. Treatment of chronic Q fever endocarditis is complex and requires long-term antibiotic therapy, sometimes associated with heart valve replacement. At the present time neither an optimal antibiotic combination nor the duration of treatment is known and patients with Q fever endocarditis require prolonged follow-up because of the possibility of later relapses.
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PMID:Q fever endocarditis. 924 58

International cooperation and widespread use of trivalent oral poliovaccine has almost eliminated paralytic poliomyelitis from developed countries and is now dramatically decreasing the disease in developing countries. The remarkable results are based on the strategies recommended by the World Health Organization, which include national mass campaigns for administering oral polio vaccine to all children younger than 5 years of age, enhanced surveillance to find patients with acute flaccid paralysis, creating a network of laboratories for viral diagnosis, and targeted immunization to populations in endemic areas. Another remarkable advance in clinical and research fields of enterovirus infections is the development of molecular genetic technologies such as polymerase chain reaction and in situ hybridization assays. A cloned enterovirus complementary DNA prepared from the highly conserved 5' region of the enterovirus genome can be used for rapid and sensitive group-specific diagnosis of enterovirus infections. This complementary DNA is currently being used to study the molecular mechanisms in the pathogenesis of enteroviral heart disease; lesions in acute and chronic myocarditis and even in end-stage dilated cardiomyopathy may be associated with replication of enteroviruses.
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PMID:Enterovirus infections in children. 772 98

A baby is described with 45,X/46,XX,i(21q) mosaicism. DNA analysis indicated that the abnormality arose from two independent postzygotic mutations in a 46,XX zygote, involving the paternal chromosomes 21 and X. In agreement with previous reports, most of the clinical dysmorphisms observed were consistent with Down syndrome. Moreover, congenital heart disease consisted of an atrioventricular canal associated with slight hypoplasia of the left ventricle and a mitral anulus, a complex defect including features found in both Down and Turner syndromes.
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PMID:Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype. 782 Sep 44

High-resolution separation of a PCR product from a mixture of DNA restriction fragments was achieved using capillary gel electrophoresis. The capillary gel electrophoretic separation gives an excellent resolution of two fragments of the 500-bp PCR product and the 506-bp DNA fragment, which differs by only 6 bp, and the complete separation of a broader chain length range of DNA afragments up to 12 kbp within 20 min. The plate number of gel-filled capillary was achieved to be 2 million plates per meter. Capillary gel electrophoresis is applied to the gene diagnosis for heart disease through apolipoprotein E genotyping. The advantages and limitations of capillary gel electrophoresis in the application to PCR analysis and DNA diagnosis are discussed.
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PMID:High-resolution separation of PCR product and gene diagnosis by capillary gel electrophoresis. 882 74

Chagas' disease (American Trypanosomiasis) affects more than 20 million people in Latin America. Almost 30% of those people may develop a chronic disease, which is expressed mainly as a chronic chagasic cardiopathy (CCC). Recent studies in Mexico have shown that 40% of patients suffering dilated cardiomyopathy do have serum antibodies against Trypanosoma cruzi. It is well known the difficulties of parasitologic diagnosis of CCC, which in less extent does exist for serologic diagnosis. Here we report a diagnostic method based on a molecular approach. It is able to recognize parasite DNA, and may have a clinical application. Two oligonucleotides (KNS1 and KNS2) designed from kinetoplast minicircle DNA, were used to amplify the hypervariable region by PCR technology. The method allowed an amplification of 0.8 to 1.5 minicircle DNA molecules, which equals 1/12,000 of parasite. When tissue DNA samples from mice infected with T. cruzi were subjected to amplification, a product was obtained that was recognized by a DNA probe specific for minicircle. These results correlate with immunohistochemical studies showing tissular parasites. Molecular diagnosis of American Trypanosomiasis, could be applied in human studies.
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PMID:[Detection of Trypanosoma cruzi in experimental samples by the DNA polymerase chain reaction method]. 807 85

Angiotensin-converting enzyme (ACE) exhibits genetic variation related to insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene. The DD genotype results in high ACE activity and is overrepresented in diseases characterized by left ventricular (LV) hypertrophy and dysfunction. We studied whether the ACE gene polymorphism predicts LV mass or function in the absence of heart disease. Polymerase chain reaction of leukocyte DNA was used to determine the I/D genotype, and M-mode and Doppler echocardiography were used to quantify LV mass and function in 86 human subjects, 36-37 yr of age. All were free of clinical heart disease. The LV mass-to-body height ratio averaged 99 +/- 19 (SD) g/m in subjects with the II genotype (n = 25), 99 +/- 30 g/m in those with the ID genotype (n = 35), and 94 +/- 24 g/m in those with the DD genotype (n = 26; P = 0.790). The indexes of LV systolic and diastolic function were also unrelated to the ACE genotype. We conclude that in the absence of heart disease the ACE gene variation has no major influence on LV mass or function that is detectable at echocardiography.
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PMID:Left ventricular size, mass, and function in relation to angiotensin-converting enzyme gene polymorphism in humans. 809 75

This review touches on three areas of recent research on genetic lipid disorders. The first is the advent of a trial of gene therapy for homozygous familial hypercholesterolemia. Affected individuals are at risk for myocardial infarction by adolescence. The experimental therapeutic protocol is aimed at restoring function of the defective low density lipoprotein (LDL) receptor gene in patients by introducing complementary DNA encoding normal LDL receptor into a patient's hepatocytes ex vivo. The second area reviewed concerns an important but lesser known relative of LDL, lipoprotein (a). Concentrations of lipoprotein (a) vary a thousandfold among humans. High levels pose a strong, independent risk for early heart disease, but lipoprotein (a) determinations are not yet routine. Finally, an update is presented on the controversy over cholesterol screening and treatment in childhood.
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PMID:Inherited dyslipidemias in childhood. 812 23

Two-wavelength scanning DNA cytophotometry was used for DNA and protein estimation in human ventricular myocytes. In many hypertrophic hearts weighing more than 500 g the DNA content assessed by ploidy of myocytes, was within the range of normal adult variation (4-10c, where c is the haploid DNA content). A correlation was found between the protein content of myocytes and the weight of the hypertrophic ventricle. In congenital heart disease, the excessive polyploidy (up to 15-20c) developed through the normal route of myocyte polyploidization in childhood. Excessive polyploidization was revealed only in overloaded hypertrophied ventricles. A correlation was identified between the ploidy level, the ventricular weight and age of the child. Excessive polyploidy was also detected in adults with congenital or acquired in childhood diseases. There was no correlation between the myocyte ploidy and age. We propose that childhood polyploidy excess persists in these adults. The ranges of polyploidy are compared with the recent data on genome: protein ratio in cardiac myocytes and the interrelationships allow us to discuss the significance of childhood heart polyploidy as a reserve utilised under pathological conditions in adults.
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PMID:Polyploidy in cardiac myocytes of normal and hypertrophic human hearts; range of values. 820 55

Metabolism, like other aspects of life, involves tradeoffs. Oxidant by-products of normal metabolism cause extensive damage to DNA, protein, and lipid. We argue that this damage (the same as that produced by radiation) is a major contributor to aging and to degenerative diseases of aging such as cancer, cardiovascular disease, immune-system decline, brain dysfunction, and cataracts. Antioxidant defenses against this damage include ascorbate, tocopherol, and carotenoids. Dietary fruits and vegetables are the principal source of ascorbate and carotenoids and are one source of tocopherol. Low dietary intake of fruits and vegetables doubles the risk of most types of cancer as compared to high intake and also markedly increases the risk of heart disease and cataracts. Since only 9% of Americans eat the recommended five servings of fruits and vegetables per day, the opportunity for improving health by improving diet is great.
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PMID:Oxidants, antioxidants, and the degenerative diseases of aging. 836 43


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