Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The most common ocular and orbital tumors presenting in infancy, childhood and adolescence are presented and discussed in this review. It has been prepared specifically for the clinical pediatrician and focuses on the clinical recognition of ophthalmic neoplasms, their diagnostic evaluation employing the use of advanced imaging techniques, biopsy when indicated and extent of disease workup. In addition, current treatment modalities are discussed. Ocular tumors addressed include: retinoblastoma, capillary hemangioma, lymphangioma, dermoid and epidermoid cysts, teratoma, glioma, astrocytic hamartoma, neurofibroma, rhabdomyosarcoma and fibrous tumors. Two aggressive and potentially fatal tumors, rhabdomyosarcoma and retinoblastoma, are presented in detail. In addition, the ocular tumors associated with the phakomatoses (von Hippel-Lindau, tuberous sclerosis and neurofibromatosis) are reviewed.
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PMID:Ophthalmic neoplasms in infancy and childhood. 219 81

Paratesticular tumors are uncommon tumors, most being found incidentally at autopsy. The most common benign paratesticular tumor is the adenomatoid tumor. A somewhat less frequent benign paratesticular tumor, papillary cystadenoma, accounts for approximately 33 percent of all the primary epididymal tumors and is frequently seen in patients with Von Hippel-Lindau disease. Malignant tumors are rare. Of these, rhabdomyosarcoma is the most frequent. Seen almost exclusively in the pediatric population, paratesticular rhabdomyosarcomas account for 7 percent of childhood rhabdomyosarcomas. We describe two cases of paratesticular tumors in adults: a papillary cystadenoma of the epididymis in a 72-year old male, and an incidental rhabdomyosarcoma in a 49-year old male.
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PMID:Adult paratesticular tumors: report of two cases. 801 95

Hypoxia-inducible transcription factor 1 (HIF-1) and HIF-2alpha regulate the expression of an expansive array of genes associated with cellular responses to hypoxia. Although HIF-regulated genes mediate crucial beneficial short-term biological adaptations, we hypothesized that chronic activation of the HIF pathway in cardiac muscle, as occurs in advanced ischemic heart disease, is detrimental. We generated mice with cardiac myocyte-specific deletion of the von Hippel-Lindau protein (VHL), an essential component of an E3 ubiquitin ligase responsible for suppressing HIF levels during normoxia. These mice were born at expected frequency and thrived until after 3 months postbirth, when they developed severe progressive heart failure and premature death. VHL-null hearts developed lipid accumulation, myofibril rarefaction, altered nuclear morphology, myocyte loss, and fibrosis, features seen for various forms of human heart failure. Further, nearly 50% of VHL(-/-) hearts developed malignant cardiac tumors with features of rhabdomyosarcoma and the capacity to metastasize. As compelling evidence for the mechanistic contribution of HIF-1alpha, the concomitant deletion of VHL and HIF-1alpha in the heart prevented this phenotype and restored normal longevity. These findings strongly suggest that chronic activation of the HIF pathway in ischemic hearts is maladaptive and contributes to cardiac degeneration and progression to heart failure.
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PMID:Hypoxia-inducible factor-dependent degeneration, failure, and malignant transformation of the heart in the absence of the von Hippel-Lindau protein. 1828 56