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389 results on '"Rappaport, E"'

2. Mantle cell leukemia as a cause of leukostasis

Author

Rappaport E, Dobin S, Koss W, Linz W, Chisholm C, Cable C, and Smith D

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Daniel Smith1, Christian Cable2, Cary Chisholm1, Walter Linz1, William Koss1, Sheila Dobin1, Edward Rappaport11Department of Pathology, 2Internal Medicine, Scott and White Healthcare/Texas A & M Health Science Center College of Medicine, Temple, TX, USAAbstract: A 72-year-old man was admitted with hypoxemic respiratory distress. Given a white blood cell count of 600 × 109/L and symptoms of leukostasis, emergency leukapheresis was initiated. The white blood cell count immediately after the first leukapheresis was paradoxically increased to over 700 × 109/L. Peripheral blood smear findings showed morphologically immature mononuclear cells and numerous circulating mitotic figures. Initial flow cytometry results showed a lambda light chain-restricted B lymphoid population positive for CD20, CD19, CD5, and FMC-7, and negative for TdT, CD10, CD23, CD34, CD117, and myeloid markers, suggesting classification as a blastoid variant of mantle cell lymphoma in a leukemic phase. Subsequent testing using DNA fluorescence in situ hybridization was positive for t(11;14), confirming the diagnosis of mantle cell leukemia. Although mantle cell lymphoma occasionally transforms or can even present as leukemia (leukocytes >40 × 109/L), it is rare for it to present with such profound leukocytosis and an overwhelming number of pleomorphic/blastoid forms. Although morphology suggested acute lymphoblastic leukemia, a more specific diagnosis of blastoid variant mantle cell lymphoma was obtained in 12 hours by applying complementary techniques of flow cytometry and rapid cytogenetics.Keywords: mantle cell lymphoma, chemotherapy, leukapheresis, lymphocytic leukemia

Published
2011

3. Shopping and identities

Author

Rappaport, E., Furnée, W.J.H., Rappaport, E., and Furnée, W.J.H.

Abstract

Item does not contain fulltext

Published
2022

4. Spaces and places

Author

Rappaport, E., Arnout, A.M.G., Rappaport, E., and Arnout, A.M.G.

Abstract

Item does not contain fulltext

Published
2022

5. Molecular Pathogenesis of Hemochromatosis

Author

Camaschella, C., Roetto, A., Sbaiz, L., Gasparini, P., Totaro, A., Girelli, D., Fortina, P., Rappaport, E., Fargion, S., Piperno, A., Abraham, Nader G., editor, Asano, Shigetaka, editor, Brittinger, Günther, editor, Maestroni, Georges J. M., editor, and Shadduck, Richard K., editor

Published
1996
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6. Spaces and places

Author

Arnout, A.M.G. and Rappaport, E.

Subjects
Bloomsbury Cultural History Series
Published
2022

21. Lineage-Specific Alternative Splicing of the Human FcγRIIA Transmembrane Exon Requires Sequences Near the 3′ Splice Site

Author

Keller, M. A., McKenzie, S. E., Cassel, D. L., Rappaport, E. F., Schwartz, E., and Surrey, S.

Subjects
Base Sequence, Transcription, Genetic, Genetic Complementation Test, Molecular Sequence Data, Receptors, IgG, Chromosome Mapping, Exons, Blotting, Northern, Transfection, Polymerase Chain Reaction, Article, Alternative Splicing, Antigens, CD, Mutagenesis, Site-Directed, Humans, RNA, Messenger, Cells, Cultured
Abstract

The human Fc gamma RIIA gene produces multiple transcripts, including those with (Fc gamma RIIa1) and without (Fc gamma RIIa2) the single exon encoding the transmembrane domain (TM). Previously, a fluorescence-based RT-PCR assay showed lineage-specific differences in Fc gamma RIIA transcript ratios (Fc gamma RIIa2/Fc gamma RIIa1). The mechanism of this lineage-specific expression was investigated in this study. Differential transcript stability does not play a major role, because transcript ratios remained constant in cells with both low (K562) and high (Dami) ratios following actinomycin D treatment. Transient expression studies in K562 and Dami cells using a minigene construct containing a 5.0 kb genomic fragment including the TM exon and adjacent intron and exon sequences showed recapitulation of endogenous transcript ratios. The TM exon was efficiently spliced in by the constitutive splicing machinery in HeLa cells, an Fc gamma RIIA-negative cell line. Lineage-specific TM exon skipping was markedly diminished by two independent minigene mutations: a point mutation of the first nucleotide of the TM exon, and a five basepair intronic deletion near a putative branchpoint. These data demonstrate that cis-acting sequences in or near the TM exon 3' splice acceptor site contribute to lineage-specific differences in Fc gamma RIIA transcript ratios.

Published
2018

24. Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology

Author

SANTACROCE R, RATTI A, CAROLI F, FOGLIENI B, CREMONESI L, FERRARIS A, MARGAGLIONE M, SERI M, RAVAZZOLO R, DALLAPICCOLA B, RAPPAPORT E, POLLACK E, SURREY S, MCENTIRE JE, FORTINA P., FERRARI , MAURIZIO, Santacroce, R, Ratti, A, Caroli, F, Foglieni, B, Cremonesi, L, Ferraris, A, Margaglione, M, Seri, M, Ravazzolo, R, Dallapiccola, B, Rappaport, E, Pollack, E, Surrey, S, Mcentire, Je, Ferrari, Maurizio, and Fortina, P.

Published
2002

25. Allelic association of microsatellites of 6p in Italian hemochromatosis patients

Author

Camaschella, C, Roetto, A, Gasparini, P, Piperno, A, Fortina, P, Surrey, S, Rappaport, E, Rappaport, E., PIPERNO, ALBERTO, Camaschella, C, Roetto, A, Gasparini, P, Piperno, A, Fortina, P, Surrey, S, Rappaport, E, Rappaport, E., and PIPERNO, ALBERTO

Abstract

Hemochromatosis (HC) is an inherited disorder of iron metabolism and is frequently seen in Caucasians. The biochemical defect and the responsible gene are unknown, but the HC locus is closely linked to HLA-A on human chromosome 6 in the region 6p21.3. Although extensive studies have been performed in several populations, the precise location of the gene is still undefined. Linkage disequilibrium with HC has been detected for loci that are 3 cM apart: HLA class I and D6S105, which is located on the telomeric side of HLA-A. We have analyzed the inheritance of several multi-allele polymorphisms that map to 6p (D6S265, Y52, HLA-F, D6S306, D6S105, D6S464, D6S299) in 34 Italian HC families and in 17 unrelated patients. Significant association with HC was shown for alleles of multiple markers in the HLA-A region, for the distant marker D6S105, but not for the D6S299 marker at 4 cM from HLA-A on the telomeric side. HC status was unambiguously assigned to 70 affected and 63 unaffected chromosomes from family studies. Thirty five different haplotypes were found in 70 HC chromosomes when considering four markers most tightly associated with the disease. A predominant haplotype comprising alleles 1-3-1-8 (marker order D6S265, HLA-A, Y52, D6S105) accounted for 30% of the HC chromosomes and was absent in normals. A minority of other HC haplotypes could be related to the major haplotype by assuming single crossover events. Results of haplotype studies suggest a founder effect in the Italian population, as previously shown in Australian patients, and a possible common mutation shared with affected individuals of Celtic origin.

Published
1996

27. Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology

Author

Santacroce, R., Ratti, A., Caroli, F., Foglieni, B., Ferraris, A., Cremonesi, L., Margaglione, M., Seri, M., Ravazzolo, R., Restagno, G., Bruno Dallapiccola, Rappaport, E., Pollak, E. S., Surrey, S., Ferrari, M., and Fortina, P.

Subjects
Oncogene Proteins, Proto-Oncogene Proteins c-ret, Humans, Receptor Protein-Tyrosine Kinases, Factor VII, Polymorphism, Single Nucleotide, Globins, Oligonucleotide Array Sequence Analysis
Abstract

Microelectronic DNA chip devices represent an emerging technology for genotyping. We developed methods for detection of single-nucleotide polymorphisms (SNPs) in clinically relevant genes.Primer pairs, with one containing a 5'-biotin group, were used to PCR-amplify the region encompassing the SNP to be interrogated. After denaturation, the biotinylated strand was electronically targeted to discrete sites on streptavidin-coated gel pads surfaces by use of a Nanogen Molecular Workstation. Allele-specific dye-labeled oligonucleotide reporters were used for detection of wild-type and variant sequences. Methods were developed for SNPs in genes, including factor VII, beta-globin, and the RET protooncogene. We genotyped 331 samples for five DNA variations in the factor VII gene,600 samples from patients with beta-thalassemia, and 15 samples for mutations within the RET protooncogene. All samples were previously typed by various methods, including DNA sequence analysis, allele-specific PCR, and/or restriction enzyme digestion of PCR products.Analysis of amplified DNA required 4-6 h. After mismatched DNA was removed, signal-to-noise ratios were5. More than 940 samples were typed with the microelectronic array platform, and results were totally concordant with results obtained previously by other genotyping methods.The described protocols detect SNPs of clinical interest with results comparable to those of other genotyping methods.

Published
2002

31. Beyond GWAS

Author

Hunter, A, primary, Zhang, Z, additional, Kerbowski, T, additional, Rappaport, E, additional, Baldassano, R, additional, and DeZoeten, E, additional

Published
2011
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32. PAT1 Occult hereditary spherocxtosis masquerading as autoimmune hemolxtic anemia in a patient with systemic lupus erxthematosus. (Pathology)

Author

Coke, T., Cusano, G., Mehta, R., Holguin, M., Koss, W., and Rappaport, E.

Subjects
Diagnosis, Complications, Hereditary spherocytosis -- Diagnosis -- Complications, Hemolytic anemia -- Diagnosis -- Complications, Lupus erythematosus -- Complications -- Diagnosis, Spherocytosis, Hereditary -- Diagnosis -- Complications
Abstract

PAT1 OCCULT HEREDITARY SPHEROCXTOSIS MASQUERADING AS AUTOIMMUNE HEMOLXTIC ANEMIA IN A PATIENT WITH SYSTEMIC LUPUS ERXTHEMATOSUS. T. Coke, MD, G. Cusano, DO, R. Mehta, MD, M. Holguin, MD, W. Koss, [...]

Published
2001

38. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Author

Elia, J, primary, Gai, X, additional, Xie, H M, additional, Perin, J C, additional, Geiger, E, additional, Glessner, J T, additional, D'arcy, M, additional, deBerardinis, R, additional, Frackelton, E, additional, Kim, C, additional, Lantieri, F, additional, Muganga, B M, additional, Wang, L, additional, Takeda, T, additional, Rappaport, E F, additional, Grant, S F A, additional, Berrettini, W, additional, Devoto, M, additional, Shaikh, T H, additional, Hakonarson, H, additional, and White, P S, additional

Published
2009
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44. Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors

Author

Megonigal, M. D., primary, Cheung, N.-K. V., additional, Rappaport, E. F., additional, Nowell, P. C., additional, Wilson, R. B., additional, Jones, D. H., additional, Addya, K., additional, Leonard, D. G. B., additional, Kushner, B. H., additional, Williams, T. M., additional, Lange, B. J., additional, and Felix, C. A., additional

Published
2000
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46. Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

Author

Gasparini, P., primary, Arbustini, E., additional, Restagno, G., additional, Zelante, L., additional, Stanziale, P., additional, Gatta, L., additional, Sbaiz, L., additional, Sedita, A.M., additional, Banchieri, N., additional, Sapone, L., additional, Fiorucci, G.C., additional, Brinson, E., additional, Shulse, E., additional, Rappaport, E., additional, and Fortina, P., additional

Published
1999
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