Results 91 to 100 of about 154,528 (340)

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Efeitos adversos e resposta citogenética em pacientes com leucemia mieloide crônica tratados com imatinibe Adverse events and cytogenetc response in patients with chronic myeloid leukemia treated with imatinib

Revista Brasileira de Hematologia e Hemoterapia, 2010
A leucemia mieloide crônica (LMC) é uma doença mieloproliferativa clonal caracterizada citogeneticamente pelo cromossomo Philadelphia. Dentre as opções terapêuticas estão a hidroxiureia, o interferon-a, o transplante alogeneico de células-tronco ...
Tatiana F. Alvarenga, Luize O. Carvalho, Stella B. Lucenas, Jane Dobbins, Alexandre Azevedo, Teresa S. Fernandez, Maria Helena Ornellas   +6 more
doaj  

A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5

Alʹmanah Kliničeskoj Mediciny, 2020
The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short arm ...
O. A. Solovova, N. V. Oparina, Yu. Yu. Kotalevskaya, S. G. Kalinenkova, A. Sh. Latypov   +4 more
doaj   +1 more source

The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density [PDF]

, 2008
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ Springer-Verlag 2008.In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of ...
A Bolzer, A Ono, AM Boutanaev, B Dutrillaux, BA Boggs, C Federico, C Federico, C Federico, C Federico, C Federico, Catia Daniela Cantarella, CM Clemson, Concetta Federico, D Zink, E Lukasova, ED Andrulis, EV Volpi, G Bernardi, G D’Onofrio, H Tanabe, H Tanabe, HA Foster, I Solovei, IHGSC (International Human Genome Sequencing Consortium), J Ferreira, J Strouboulis, J Zhou, JA Croft, JJ Roix, JM Bridger, K Kupper, KE Brown, L Andreozzi, M Cockell, M Costantini, M Neusser, N Gilbert, N Sadoni, NV Petrova, Patrizia Di Mare, PS Masny, S Boyle, S D’Antoni, S Saccone, S Saccone, S Saccone, S Saccone, Sabrina Tosi, Salvatore Saccone, SW Scherer, T Cremer, TS Furey, U Francke, WA Bickmore   +53 more
core   +1 more source

The impact of COVID‐19 pre‐university education on first‐grade medical students. A performance study of students of a Department of Histology

Anatomical Sciences Education, Volume 18, Issue 3, Page 254-263, March 2025.
Abstract The recent coronavirus disease (COVID‐19) forced pre‐university professionals to modify the educational system. This work aimed to determine the effects of pandemic situation on students' access to medical studies by comparing the performance of medical students.
José Manuel García, David Sánchez‐Porras, Miguel Etayo‐Escanilla, Paula Ávila‐Fernández, Olimpia Ortiz‐Arrabal, Miguel‐Ángel Martín‐Piedra, Fernando Campos, Óscar‐Darío García‐García, Jesús Chato‐Astrain, Miguel Alaminos   +9 more
wiley   +1 more source

Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization [PDF]

, 1990
Chromosomal in situ suppression (CISS)-hybridization of biotinylated phage DNA-library inserts from sorted human chromosomes was used to decorate chromosomes 1 and 7 specifically from pter to qter and to detect structural aberrations of these chromosomes
Cremer, Christoph, Cremer, Thomas, Emmerich, Patricia, Lichter, Peter, Popp, Susanne   +4 more
core   +1 more source

Prospective validation of podoplanin expression as a diagnostic biomarker of acute promyelocytic leukemia

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Acute promyelocytic leukemia (APL) is a medical emergency that needs immediate diagnosis and treatment. Podoplanin, a transmembrane glycoprotein that binds CLEC‐2 on platelets, was recently demonstrated to be abnormally expressed in leukemic blasts in APL, as opposed to other forms of AML, in a study using thawed primary cells.
Camilla Maria de Alencar Saraiva, Carla Roberta Peachazepi Moraes, Bruno Kosa Lino Duarte, Gislaine Borba Oliveira, Herton Luiz Alves Sales Filho, Paula de Melo Campos, Sara Teresinha Olalla Saad, Erich Vinicius De Paula   +7 more
wiley   +1 more source

Heterogeneity of monosomy 3 in fine needle aspiration biopsy of choroidal melanoma. [PDF]

, 2013
PurposeTo report on the heterogeneity of monosomy 3 in a fine needle aspiration biopsy obtained transsclerally from choroidal melanoma for prognosis.MethodsAll clinical records for patients who had been diagnosed with choroidal melanoma and underwent ...
Burgess, Barry L, Chang, Melinda Y, Johnson, Lariza, McCannel, Tara A, Rao, Nagesh P   +4 more
core   +2 more sources

Molecular methods for genomic analyses of variant PML-RARA or other RARA-related chromosomal translocations in acute promyelocytic leukemia [PDF]

, 2012
TO THE EDITOR: We read an interesting paper by Palta et al. in a recent issue of the Korean Journal of Hematology titled, "ZBTB16-RARA variant of acute promyelocytic leukemia with tuberculosis: a case report and review of literature" [1].
Kim, Min Jin, Marschalek, Rolf, Meyer, Claus, Park, Tae Sung, Yang, John Jeongseok   +4 more
core   +1 more source

Monocyte maturation pattern by flow cytometry expression of CD64, CD300e, and CD14 correlates to presence of myeloid neoplasm and helps identify blast equivalents in the setting of monocytic neoplasm

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract CD300e is a marker of mature monocytes in flow cytometry; however, there is limited detailed information on staining patterns in conjunction with other monocyte markers. We evaluated the flow cytometric staining patterns of CD64, CD14, and CD300e in 12 negative and 33 positive peripheral blood specimens and 16 negative and 56 positive bone ...
Jenny Zhang, Jacob Kaplan, Elizabeth Courville   +2 more
wiley   +1 more source