Results 11 to 20 of about 16,796 (211)

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

TH Open, 2020
Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders.
Julia Körholz, Nadja Lucas, Franziska Boiti, Karina Althaus, Oliver Tiebel, Mingyan Fang, Reinhard Berner, Min Ae Lee-Kirsch, Ralf Knöfler   +8 more
doaj   +1 more source

A Case Report on Glanzmann’s Thrombasthenia: A Rare Platelet Function Disorder

Haematology Journal of Bangladesh, 2020
Epistaxis in children is one of the important presenting symptoms for attending emergency department in paediatric patients. Recurrent epistaxis is common in children.
Farida Yasmin, Md. Anwarul Karim, Chowdhury Yakub Jamal, Mamtaz Begum, Ferdousi Begum   +4 more
doaj   +1 more source

Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays

Biomolecules
Inherited platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood ...
Ana Sánchez-Fuentes, Juliana Pérez-Botero, José M. Bastida, José Rivera   +3 more
doaj   +1 more source

Classical Complement Pathway Inhibition in a Pediatric Patient With Refractory Immune Thrombocytopenia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric refractory immune thrombocytopenia (rITP) is generally characterized by persistent thrombocytopenia and failure to achieve a sustained response to multiple standard therapies. We report a 4‐year‐old female with congenital tufting enteropathy, post‐intestinal transplant patient on immunosuppressants, who developed severe rITP ...
Sarah Hsieh, Susmita Sarangi, Caileigh Pudela, Catherine M. Broome, Tara K. Suntum   +4 more
wiley   +1 more source

Zebrafish for thrombocytopoiesis- and hemostasis-related researches and disorders

Blood Science, 2020
. Platelets play vital roles in hemostasis, inflammation, and vascular biology. Platelets are also active participants in the immune responses. As vertebrates, zebrafish have a highly conserved hematopoietic system in the developmental, cellular ...
Panpan Meng, Liangliang Wu, Qing Lin, Yiyue Zhang   +3 more
doaj   +1 more source

Humanized mouse models for inherited thrombocytopenia studies

Platelets, 2023
Inherited thrombocytopenia (IT) is a group of hereditary disorders characterized by a reduced platelet count as the main clinical manifestation, and often with abnormal platelet function, which can subsequently lead to impaired hemostasis.
Xiaojie Wang, Maoshan Chen, Lanyue Hu, Chengning Tan, Xiaoliang Li, Peipei Xue, Yangzhou Jiang, Peipei Bao, Teng Yu, Fengjie Li, Yanni Xiao, Qian Ran, Zhongjun Li, Li Chen   +13 more
doaj   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Platelet phenotypes and practical aspects of platelet function testing in cardiology

Рациональная фармакотерапия в кардиологии, 2023
The assessment of platelet dysfunction is usually used by hematologists to diagnose inherited (such as Bernard-Soulier syndrome, platelet-type-von Willebrand disease, Glanzmann thrombasthenia, etc.), and acquired (symptomatic) platelet disorders (in ...
Zh. D. Kobalava, A. S. Pisaryuk, A. A. Filkova, E. S. Tukhsanboev, A. A. Boldyreva, D. P. Lazutova, I. A. Meray, M. A. Panteleev   +7 more
doaj   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil

Hematology, Transfusion and Cell Therapy
Introduction: Inherited platelet disorders are rare conditions characterized by altered platelet function and/or reduced platelet counts. Diagnosing these disorders is challenging and may result in delays, misdiagnosis, and inappropriate treatment.
Letícia Dalla Vecchia Grassi, Erica Okazaki, Cynthia Rothschild, Paula Villaça, Fernanda Andrade Orsi, Bianca Stefanello   +5 more
doaj   +1 more source