Results 91 to 100 of about 48,299 (209)

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source

Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand. [PDF]

PLoS One, 2023
Wongkrajang P, Jittikoon J, Udomsinprasert W, Talungchit P, Chaikledkaew U.   +4 more
europepmc   +1 more source

The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital

Genetics and Molecular Biology
Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life.
Julio Alejandro Peña Duque, Charles Francisco Ferreira, Suzana de Azevedo Zachia, Maria Teresa Vieira Sanseverino, Rejane Gus, José Antônio de Azevedo Magalhães   +5 more
doaj   +1 more source

Transition Into Clinical Routine and Survival Outcomes of BCL2‐ and BTK Inhibitors: An Analysis of Patient Data From the GCLLSG Registry

European Journal of Haematology, EarlyView.
ABSTRACT Within a dataset of the German CLL Study Group (GCLLSG) registry, 274 patients were allocated to a cohort with venetoclax and 888 to a cohort with BTKi (79 acalabrutinib, 809 ibrutinib), each as first administered targeted substance class within the documented treatment sequence.
Nadine Kutsch, Rudy Ligtvoet, Sandra Robrecht, Hartmut Linde, Thomas Illmer, Steffen Dörfel, Jörg Lipke, Ali Aldaoud, Rudolf Schlag, Jolanta Dengler, Othman Al‐Sawaf, Petra Langerbeins, Paula Cramer, Michael Hallek, Barbara Eichhorst, Kirsten Fischer, Anna Fink   +16 more
wiley   +1 more source

First‐Line Treatment of IGHV‐Unmutated Chronic Lymphocytic Leukemia: A Network Meta‐Analysis of Targeted and Chemoimmunotherapy Regimens

European Journal of Haematology, EarlyView.
ABSTRACT Immunoglobulin heavy chain variable region‐unmutated (IGHV‐U) chronic lymphocytic leukemia (CLL) represents a biologically aggressive subgroup with limited responsiveness to chemoimmunotherapy (CIT). To clarify the comparative effectiveness of available frontline options, we conducted a comprehensive Bayesian network meta‐analysis of ...
Santino Caserta, Enrica Antonia Martino, Danilo Lofaro, Ernesto Vigna, Antonella Bruzzese, Francesco Mendicino, Maria Eugenia Alvaro, Caterina Labanca, Eugenio Lucia, Virginia Olivito, Nicola Amodio, Fortunato Morabito, Valter Gattei, Massimo Gentile   +13 more
wiley   +1 more source

Bone Marrow Pathology in Cold Agglutinin‐Mediated Autoimmune Hemolytic Anemia: A Study of 56 Cases

European Journal of Haematology, EarlyView.
ABSTRACT Cold agglutinin disease (CAD) is a rare form of autoimmune hemolytic anemia (AIHA). CAD occurs in the context of a small clonal B‐cell lymphoproliferation restricted to blood and/or bone marrow (BM), without overt or extramedullary lymphoma. The WHO‐HAEM5 introduced a description of the CAD‐associated lymphoproliferative disorder (CAD‐LPD) in ...
Anne‐Marie L. Becking, Sophie J. Bernelot Moens, Marie José Kersten, Femke V. M. Mulder, Steven T. Pals, Lianne Koens, Josephine M. I. Vos   +6 more
wiley   +1 more source

Mosaic trisomy 13 and constitutional delay in puberty. [PDF]

Oxf Med Case Reports, 2022
Eltayeb SYH, Bashier A, Hussain AAKB.
europepmc   +1 more source

To Treat or Not to Treat: Navigating Early‐Stage CLL in the Era of Targeted Therapy

European Journal of Haematology, EarlyView.
ABSTRACT Chronic lymphocytic leukemia (CLL) is most frequently diagnosed at early, asymptomatic stages (Rai 0/Binet A), in which a watch‐and‐wait strategy remains the standard of care, based on historical trials demonstrating no overall survival benefit from early treatment.
Enrica Antonia Martino, Santino Caserta, Ernesto Vigna, Giovanna Cutrona, Antonella Bruzzese, Francesco Mendicino, Maria Eugenia Alvaro, Caterina Labanca, Eugenio Lucia, Virginia Olivito, Nicola Amodio, Franco Fais, Antonino Neri, Manlio Ferrarini, Valter Gattei, Fortunato Morabito, Massimo Gentile   +16 more
wiley   +1 more source

A Case of Trisomy 13 Mosaicism With Aortic Root Dilatation. [PDF]

JACC Case Rep, 2022
Wang S, Liao P, Yang SG.
europepmc   +1 more source

A quantitative dissection of the DNA‐binding properties of pathogenic GATA1 mutants

The FEBS Journal, EarlyView.
Transcription factor activity is influenced by cell context, accessibility of target sequences, and co‐factor recruitment. Quantitatively characterizing the consequences of individual mutations in the transcription factors or their target sequences remains technically challenging. Zambo et al. use mutant GATA1‐ATP2B4 binding to illustrate an innovation
Kaoru Takasaki
wiley   +1 more source