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)

Four variations and degrees of severity of the Mondini malformation were found in the temporal bones from two neonates, one with congenital heart disease and the other with trisomy D, and from one teenager with leukemia: 1) short cochlea and normal vestibular organs; 2) short cochlea and persistent horizontal canal anlage; 3) markedly shortened cochlea with no modiolus, wide internal auditory meatus, and persistent horizontal canal anlage; 4) same as variation 3, but with persistent anlagen in all semicircular canals. Variations 3 and 4 were from the case of trisomy D, in which the left cochlea had a normal hair cell population but few nerve fibers, and the intraganglionic spiral bundle was displaced from Rosenthal's canal to the osseous spiral lamina. The right ear had no cochlear nerve fibers; the organ of Corti was present, but hair cells were unusually small. In the case of trisomy D, both ears showed subtotal loss of vestibular nerve fibers. Although the rudimentary cristae of the right ear had numerous hair cells, the macular hair cells were fewer and malformed. No hydrops was present.
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PMID:Four variations of the Mondini inner ear malformations as seen in microdissections. 633 86

The first Chinese case of MBD is reported as an incidental finding in a non-alcoholic who died from syphilitic heart disease complicated by subacute endocarditis. The extensive necrotic and demyelinating lesion of the body of corpus callosum presents no sandwich appearance. The core of the corpus callosum shows dystrophic astrogliosis with Rosenthal-like fibers and Alzheimer astrocytes, while only reactive astrogliosis is observed in its subpia and subependyma. The development of dystrophic astrogliosis in which gemistocytosis is believed to be the central theme, with the presence of Rosenthal-like fibers and Alzheimer astrocytes in this case denotes possibly a severe metabolic derangement of the affected astroglia. The presence of the subpial and subependymal reactive astrogliosis of the body of corpus callosum to the dystrophic astrogliosis of its core suggests that the same injury may lead to different responses in different subtypes of astrocytes of the same anatomic locus.
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PMID:Primary necrosis of corpus callosum with dystrophic astrogliosis and Rosenthal-like fiber formation. The first Chinese case of Marchiafava-Bignami's disease (MBD). 661 36

In recent years, impressive advances have occurred in our understanding of transcriptional regulation of cardiac development. These insights have begun to elucidate the mystery of congenital heart disease at the molecular level. In addition, the molecular pathways emerging from the study of cardiac development are being applied to the understanding of adult cardiac disease. Preliminary results support the contention that a thorough understanding of molecular programs governing cardiac morphogenesis will provide important insights into the pathogenesis of human cardiac diseases. This review will focus on examples of transcription factors that play critical roles at various phases of cardiac development and their relevance to cardiac disease. This is an exciting and burgeoning area of investigation. It is not possible to be all-inclusive, and the reader will note important efforts in the areas of cardiomyocyte determination, left-right asymmetry, cardiac muscular dystrophies, electrophysiology and vascular disease are not covered. For a more complete discussion, the reader is referred to recent reviews including the excellent compilation of observations assembled by Harvey and Rosenthal (1).
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PMID:Transcriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome. 1110 36