Results 71 to 80 of about 3,635 (200)

Current gynaecological management of women and girls with bleeding disorders in the United Kingdom: A UKHCDO haemophilia treatment centre survey and evaluation of real‐world clinical practice for the British Journal of Haematology

British Journal of Haematology, Volume 208, Issue 2, Page 661-669, February 2026.
Summary Girls and women with bleeding disorders (GWBD) comprise more than half of all registered patients with bleeding disorders in the UK National Haemophilia Database. The gynaecological care of GWBD, until recently, has not been prioritised despite high health burdens, where four of every five patients experience heavy menstrual bleeding (HMB).
Laura Knox, Imogen Swart‐Rimmer, Naim Rahimi, Callum Harris, Lugain Abdalla, Gary Benson, Clare Brown, Helen Campbell, Ana Carvalhosa, Justin T. Clarke, Sarah Garside, Claire Lentaigne, Jayna Mistry, Priyanka Raheja, Cora Warren, Rezan Abdul‐Kadir, Gill Lowe, Nicola Curry   +17 more
wiley   +1 more source

Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia

Frontiers in Pediatrics
MYH9-related disease, a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, may mimic immune thrombocytopenia in children unless suspected and carefully excluded.
Kaori Niwa, Hidemi Toyoda, Atsushi Kohso, Yosuke Okumura, Shinji Kunishima, Masahiro Hirayama   +5 more
doaj   +1 more source

Nbeal2 Inactivation Triggers Abl1 Stabilisation and Dysregulated Subcellular Localisation of the Multi‐Drug‐Resistant Protein MDR1 (ABCB1) in Mast Cells

Immunology, Volume 177, Issue 2, Page 355-369, February 2026.
(A) Proposed model for Abl1 degradation via Nbeal2. Nbeal2 interacts with Abl1 with its WDR domain. This results in proteasomal degradation by a yet unidentified ubiquitin ligase. Therefore, Nbeal2 inactivation stabilises Abl1, which supports mast cell (MC) degeneration. (B) In wt MCs, the Abl1 protein level is controlled by Nbeal2. Furthermore, Nbeal2
Raphaela Marquardt, Nico Andreas, Ronja Herrnberger, Claudia Küchler, Katrin Hornung, Bernhard Nieswandt, Marco Groth, Paul M. Jordan, Oliver Werz, Julia Drube, Sebastian Drube   +10 more
wiley   +1 more source

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

, 2021
Takenouchi-Kosaki syndrome (TKS) is a recently delineated syndromic form of thrombocytopenia strictly related to an hot-spot missense variant, p.Tyr64Cys, in CDC42 (Cell Division Control protein 42).
Grandone A., Santoro C, Perrotta S, Piluso G, Miraglia Del Giudice E, Nigro V, Gaudino G, Torella A   +7 more
core   +1 more source

The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume

Platelets, 2022
The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor, David Rabbolini, Marie-Christine Morel-Kopp, Kate Fixter, Dea Donikian, Mayuku Kondo, Onki Chan, Susan Jarvis, Walter Chen, Timothy Brighton, Vivien Chen, Christopher Ward, Joanne Joseph   +12 more
doaj   +1 more source

Familial Macrothrombocytopenia with Unusually Elongated Mitochondria.

Internal Medicine, 1995
We report a familial case of macrothrombocytopenia without inclusion bodies in polymorphonuclear cells or any congenital abnormalities. The results of the hemostatic and platelet function tests were all normal except for the platelet retention rate. The number of megakaryocytes increased slightly and some were relatively small.
YAMADA, Katsunori, MIWA, Kazuma, WAKITA, Yoshitsugu, IKOMA, Yoshio, FUKUI, Yohichi, OKUYAMA, Makio, KATO, Kazuo, ICHIHASHI, Takuji, KUNISHIMA, Shinji, SHAMOTO, Mikihiro   +9 more
openaire   +3 more sources

Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2016
Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have ...
Eun-Gyong Yoo
doaj   +1 more source

Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families [PDF]

, 2009
The online version of this article contains a supplementary appendix. Background Defects of integrin αIIbβ3 are typical of Glanzmann's thrombasthenia, an inherited autosomal recessive bleeding disorder characterized by the failure of platelets to ...
Mezzasoma A. M., Giannini S., D'Adamo P., Di Bari F., NORIS, PATRIZIA, Gresele P., Balduini C. L., Corazzi T., Savoia A., Cecchetti L., Falcinelli E., Noris P., D'Eustacchio A., Guglielmini G., BALDUINI, CARLO   +14 more
core   +2 more sources

Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterols

Journal of Lipid Research, 2018
The elucidation of the molecular basis of the rare disease, sitosterolemia, has revolutionized our mechanistic understanding of how dietary sterols are excreted and how cholesterol is eliminated from the body.
Shailendra B. Patel, Gregory A. Graf, Ryan E. Temel   +2 more
doaj   +1 more source

How Trustworthy is Light Transmittance Platelet Aggregometry With Low Platelet Count Samples? Insights From Test Replicates and Retrospective Analysis of Several Decades of Diagnostic Samples

International Journal of Laboratory Hematology, Volume 47, Issue 6, Page 1147-1157, December 2025.
ABSTRACT Introduction Light transmission platelet aggregometry (LTA) is useful to diagnose platelet function disorders (PFD). We evaluated the precision and reproducibility of LTA with low platelet count platelet‐rich plasma (LPRP). Methods LPRP maximal aggregation (MA) precision for informative agonists and LTA reproducibility were assessed using ...
Catherine P. M. Hayward, Rabab Al Dawood, Lindsay Wice, Karen A. Moffat   +3 more
wiley   +1 more source