Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Renal cell carcinomas (RCCs) are rare in children and studies of their subtypes and clinicopathologic associations are limited to small series. We identified 8 patients with RCC treated at our institution between 1981 and 2003, reviewed their clinicopathologic features, cytogenetics findings, and evaluated the status of TFE3 expression by immunohistochemistry and numerical chromosomal alterations by interphase fluorescent in situ hybridization on paraffin-embedded tissue. These 8 patients (5 female and 3 male) had diploidy, and 5 had morphologic features compatible with the recently described RCC associated with Xp11.2 translocations/TFE3 gene fusions and demonstrated nuclear labeling for TFE3 protein by immunohistochemistry. The translocation was confirmed in 2 of these 5 patients by conventional cytogenetics. One case was a high-grade nonpapillary RCC and the other was compatible with type 2 papillary RCC. Four patients showed at least 1 chromosomal gain including trisomy 7 and/or trisomy 17. None of the tumors from male patients showed evidence of loss of the Y chromosome, but 2 patients showed numerical abnormalities of X chromosome +add(X). Two patients had sickle cell disease, and 1 of these also had stage IV-S neuroblastoma. This study suggests that many cases of RCC in children reported under the terms "papillary" and "clear cell" likely represent Xp11.2 translocation/TFE3 gene fusion-associated RCC. It also emphasizes the unusual associations of RCC with neuroblastoma and sickle cell hemoglobinopathy, which need further study.
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PMID:Pediatric renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions and clinicopathologic associations. 1574 97

This study assesses the impact of immigration in Friuli Venezia Giulia, a region of northeastern Italy, on the epidemiological features of hemoglobin patterns and on prothrombotic and trisomy risk in pregnancy for patients of non-Italian origin. This study follows a series of studies on the incidence of thalassemia and other hemoglobinopathies with reduced globin chain synthesis, that were performed during the postwar (1939-45) period in Friuli Venezia Giulia following immigration into the region from Istria and Sardinia (regions of northern and central Italy). Current data show that today's constantly growing immigration into the region differs from previous decades, in terms of origin and quantity of migrants, who mainly come from third world countries. This has a significant impact on health care issues, and more specifically on prospective health screening for foreigners. The authors conclude that scholastic education and hospital services, either public or private, and voluntary associations, may contribute to solving the problem, but only in terms of training and organization, for non-European Union citizens arriving in northern Italy and neighboring areas, especially those from Africa, Asia, Latin America, and eastern Europe.
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PMID:Management of immigration and pregnancy screening in northeastern Italy. 2231 23