Results 31 to 40 of about 13,796 (248)

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation

Platelets, 2023
Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing genome-wide sequencing.
Max Frenkel, April Hall, M. Stephen Meyn, Carol A. Diamond   +3 more
doaj   +1 more source

A review on animal models of inherited thrombocytopenia

Zhongguo shuxue zazhi
Inherited thrombocytopenia is a group of heterogeneous inherited diseases mainly characterized by platelet count defects. It is a monogenic disease caused by mutations in various genes.
WANG Xiaojie, LI Zhongjun, CHEN Li
doaj   +1 more source

Thrombocytopenia Inherited as an Autosomal Dominant Trait [PDF]

Blood, 1965
Abstract This report summarizes information obtained on four generations of a kindred afflicted with a mild hemorrhagic diathesis. Studies carried out on a family of eight members and platelet counts obtained on fifty-one additional members demonstrated only mild thrombocytopenia in eleven members of three generations.
T C, BITHELL, P, DIDISHEIM, G E, CARTWRIGHT, M M, WINTROBE   +3 more
openaire   +2 more sources

Inherited thrombocytopenia and Occam’s razor [PDF]

Blood, 2017
In this issue of Blood , Seo et al demonstrate that the extensive characterization of the inherited bone marrow failure syndromes (IBMFS) can lead to important insights into the biology of hematopoiesis ...
openaire   +2 more sources

Biphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.
Oded Gilad, Ohad Atia, Osama Tanous, Dafna Brik Simon, Michal Dvori, Miriam Cohen, Tracie A. Goldberg, Efraim Bilavsky, Joanne Yacobovich, Orna Steinberg‐Shemer   +9 more
wiley   +1 more source

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. [PDF]

PLoS ONE, 2013
Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited ...
Paul Guéguen, Karen Rouault, Jian-Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan-Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean-Francois Abgrall, Cédric Le Maréchal, Claude Férec   +13 more
doaj   +1 more source

Chemotherapy for Spinal Cord Intramedullary Pediatric Low‐Grade Glioma—A Systematic Literature Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko, Segev Gabay, Jonathan Roth, Amit Ringel, Rina Dvir, Shlomi Constantini   +5 more
wiley   +1 more source

Mutations of RUNX1 in families with inherited thrombocytopenia [PDF]

American Journal of Hematology, 2017
N ...
De Rocco, Daniela, Melazzini, Federica, MARCONI, CATERINA, Pecci, Alessandro, Bottega, Roberta, Gnan, Chiara, PALOMBO, FLAVIA, Giordano, Paola, Coccioli, Maria Susanna, Glembotsky, Ana C., Heller, Paula G., SERI, MARCO, Savoia, Anna, Noris, Patrizia   +13 more
openaire   +6 more sources

Identifying Patterns of Hospitalizations Among Childhood Cancer Survivors: A Population‐Based Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood cancer survivors (CCSs) experience more hospitalizations than the general population. We aimed to identify distinct hospitalization patterns among Queensland CCSs and the associated characteristics. Methods Cases (aged ≤14 years) diagnosed between 1995 and 2019 while residents of Queensland were identified through the ...
Hai Pham, Teyl Engstrom, Peter Baade, Natalie Bradford, Sarah Pont, Louise Marquart‐Wilson, Natasha Nassar, Jason D. Pole   +7 more
wiley   +1 more source

First Report of MPL c.23T>G (p.M8R) Variant in Congenital Amegakaryocytic Thrombocytopenia: A Case Report

eJHaem
Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome primarily caused by MPL gene mutations. It presents with severe neonatal thrombocytopenia and typically progresses to pancytopenia.
Atbin Latifi, Sina Yousefian
doaj   +1 more source