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)

Recently, clinical diagnostic methods for heart disease, especially echocardiography, have remarkably progressed and the incidence of cardiac tumors increased. This study investigated the characteristics of tumors in 115 patients with primary cardiac tumor, diagnosed histologically in 1993-1994, in collaboration with 126 university hospitals in Japan. Histological diagnosis, location, initial clinical manifestations and prognosis of cardiac tumors are reported. Of the 115 patients, 98 (85%) had primary benign tumor. Myxoma was the most common histological group (91 cases). Primary malignant cardiac tumors occurred in 17 patients (15%) of which rhabdomyosarcoma was the most frequent (5 cases). Sixty percent of patients with myxoma were female, a similar ratio to the proportion of female patients with other primary cardiac tumors. Most patients with myxoma had the tumor in the left side of the heart [76 cases (84%) in left side, 12 (13%) in right side, 3 (3%) in both sides]. In contrast, the primary malignant cardiac tumors occurred more in the right side of the heart rather than in the left side (eight in right side, six in left side). Embolization was the characteristic initial clinical manifestation for myxoma. There were no patients with initial manifestation of embolization in the other histological groups. Reflecting the recent progress and spread of clinical diagnostic methods, 17% of all patients were discovered asymptomatically. All patients with myxoma who were asymptomatic underwent operation, and there were no surgical deaths. In contrast, only one patient with primary malignant cardiac tumor could survive longer than a year. In conclusion, the progress and the spread of cardiovascular imaging has contributed to the early diagnosis of primary cardiac tumors. These data demonstrate new clinical and pathological characteristics of primary cardiac tumors seen in recent cardiologic practice in Japan.
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PMID:[Clinical incidence of primary cardiac tumors]. 893 39

We report on a consanguineous Turkish family whose first son died of anal atresia and whose second son presented with severe pre- and post-natal growth retardation as well as striking microcephaly, immunodeficiency, congenital heart disease, chromosomal instability and rhabdomyosarcoma in the anal region. The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for Nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome, with profound pre- and post-natal growth retardation associated with structural abnormalities, and expands the clinical spectrum of this rare disorder.
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PMID:657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. 1212 93

Hypertrophic osteoarthropathy (HOA) is characterized by digital clubbing, long bone periosteal reaction, and polyarthralgias. Primary familial HOA is very rare and is not associated with underlying disorders and has a good prognosis. Secondary pediatric nonneoplastic HOA is associated with cystic fibrosis, congenital heart disease, biliary atresia, and inflammatory bowel disease. Secondary neoplastic HOA may be associated with intra or extrathoracic tumors.A 5-year-old girl was admitted to our hospital for an abdominal mass, digital clubbing, and diffuse articular pain. The bone scan revealed symmetrical tracer uptake in the long bones. Upper and lower extremity x-rays were diagnostic for HOA. Paraneoplastic HOA in childhood accounts for not more than 12% of HOA paitents. HOA has been reported in 2 other cases of rhabdomyosarcoma.
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PMID:Rhabdomyosarcoma associated hypertrophic osteoarthropathy in a child: detection by bone scintigraphy. 1935 78