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81.
DeLario MR Sheehan AM Ataya R Bertuch AA Vega C Webb CR Lopez-Terrada D Venkateswaran L 《American journal of hematology》2012,87(5):461-464
Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients. 相似文献
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García-Fuertes D Mesa-Rubio D Ruiz-Ortiz M Delgado-Ortega M Tejero-Mateo I Pan-Álvarez-Ossorio M Suárez-de-Lezo J Lafuente M 《Echocardiography (Mount Kisco, N.Y.)》2012,29(6):729-734
Background: Atrial septal defect (ASD) is one of the most common congenital heart diseases. Nowadays, percutaneous closure is considered the treatment of choice in most of secundum ASDs. Assessment of the defect and procedure monitoring have been usually performed by angiographic balloon‐sizing and/or two‐dimensional (2D) transesophageal echocardiography. However, in complex ASDs these techniques might be inaccurate. Methods: From January 2009 to January 2011 all adult patients with complex ASDs submitted for percutaneous closure were selected. Those defects, where shunts were present through a device previously implanted on the atrial septum or through multiperforated septums, were considered complex ASDs. Two‐dimensional transesophageal echocardiography and real time three‐dimensional (3D) echocardiography were performed simultaneously during the percutaneous closure procedure. Number of orifices, relationships between the defect, catheter, and device, as well as residual shunt were assessed. Results: Seven patients were included. Five patients had a multiperforated septum and in two cases the defect in the septum was through a previously implanted device. In all cases, 3D echocardiography was superior to 2D echocardiography in relation to the assessment of the relationship between the defect and the catheter or the device. Mechanisms responsible for residual shunts through a device were also better assessed by 3D echocardiography. Conclusion: Three‐dimensional echocardiography is a safe and useful technique when monitoring percutaneous closure of ASDs, showing relevant advantages over 2D echocardiography. (Echocardiography 2012;29:729‐734) 相似文献
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Xiaojing Qian Yan-Ho Cheng Dolores D Mruk C Yan Cheng 《Asian journal of andrology》2013,15(4):455-460
Breast cancer resistance protein (Bcrp) is an ATP-dependent efflux drug transporter. It has a diverse spectrum of hydrophilic and hydrophobic substrates ranging from anticancer, antiviral and antihypertensive drugs, to organic anions, antibiotics, phytoestrogens (e.g., genistein, daidzein, coumestrol), xenoestrogens and steroids (e.g., dehydroepiandrosterone sulfate). Bcrp is an integral membrane protein in cancer and normal cells within multiple organs (e.g., brain, placenta, intestine and testis) that maintains cellular homeostasis by extruding drugs and harmful substances from the inside of cells. In the brain, Bcrp is a major component of the blood–brain barrier located on endothelial cells near tight junctions (TJs). However, Bcrp is absent at the Sertoli cell blood–testis barrier (BTB); instead, it is localized almost exclusively to the endothelial TJ in microvessels in the interstitium and the peritubular myoid cells in the tunica propria. Recent studies have shown that Bcrp is also expressed stage specifically and spatiotemporally by Sertoli and germ cells in the seminiferous epithelium of rat testes, limited only to a testis-specific cell adhesion ultrastructure known as the apical ectoplasmic specialisation (ES) in stage VI–early VIII tubules. These findings suggest that Bcrp is equipped by late spermatids and Sertoli cells to protect late-stage spermatids completing spermiogenesis. Furthermore, Bcrp was found to be associated with F (filamentous)-actin and several actin regulatory proteins at the apical ES and might be involved in the organisation of actin filaments at the apical ES in stage VII–VIII tubules. These findings will be carefully evaluated in this brief review. 相似文献
90.
Hassib Chehade Paloma Parvex Antoine Poncet Dominique Werner Dolores Mosig Francois Cachat Eric Girardin 《Pediatric nephrology (Berlin, Germany)》2013,28(12):2299-2306