Results 31 to 40 of about 3,348,298 (337)

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

Platelets, 2022
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed.
Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan   +9 more
doaj   +1 more source

Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2016
Glanzmann’s Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is characterized by lack of platelet aggregation on stimulation.
Abhishek Ghosh, Saurabh Kumar, Rabin Chacko, Arun Paul Charlu   +3 more
doaj   +1 more source

Management of siblings with Glanzmann's thrombasthenia: A case report

Journal of Family Medicine and Primary Care, 2020
Glanzmann's thrombasthenia is a rare, genetically inherited platelet disorder characterized by a lack of platelet aggregation. Until date, only close to 500 cases have been reported.
Mebin George Mathew
doaj   +1 more source

Bernard Soulier syndrome: A case report from Pakistan

Clinical Case Reports, 2023
Key Clinical Message Bernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common.
Iqra Effendi, Ahsan Nadeem, Sara Sarfraz, Mubasshar Shahid, Minaam Farooq, Ayush Anand   +5 more
doaj   +1 more source

Rituximab Twice Weekly for Refractory Thrombotic Thrombocytopenic Purpura in a Critically Ill Patient with Acute Respiratory Distress Syndrome

Case Reports in Oncology, 2020
Thrombotic thrombocytopenic purpura (TTP) is a rare, serious, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and hypercoagulability.
Bahjat Azrieh, Arwa Alsaud, Khaldun Obeidat, Amr Ashour, Seham Elebbi, Shehab F. Mohamed, Mohamed Adel Abdelaty, Abdelraouf Akkari, Abdurrahman Ali Elbuzidi, Mohamed A. Yassin   +9 more
doaj   +1 more source

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).

Seminars in hematology (Print), 2017
In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with
B. Schlegelberger, P. Heller
semanticscholar   +1 more source

Platelet glycoprotein VI genetic quantitative and qualitative defects

Platelets, 2019
Platelet membrane glycoprotein VI (GPVI) is increasingly recognized as an important receptor for thrombus formation and growth. Numerous arguments have been published indicating that GPVI plays a major role in thrombosis without being essential for ...
Martine Jandrot-Perrus, Cedric Hermans, Diego Mezzano   +2 more
doaj   +1 more source

Characteristics of platelet-associated parameters and their predictive values in Chinese patients with affective disorders

BMC Psychiatry, 2022
Objective Platelets are increasingly considered to play an important role in inflammation and are being regarded as a putative bridge linking mental diseases and inflammatory response. Platelet-associated haematological parameters including mean platelet
Yanyan Wei, Junhui Feng, Jinbao Ma, Dongning Chen, Haiting Xu, Lu Yin, Jingxu Chen   +6 more
doaj   +1 more source

Reduced Platelet MAO-B Activity Is Associated with Psychotic, Positive, and Depressive Symptoms in PTSD

Biomolecules, 2022
Post-traumatic stress disorder (PTSD) is a trauma-related disorder. Platelet monoamine oxidase (MAO-B) is a peripheral biomarker associated with various symptoms in different psychopathologies, but its role in PTSD or different symptoms in PTSD is not ...
Senka Repovecki, Gordana Nedic Erjavec, Suzana Uzun, Lucija Tudor, Matea Nikolac Perkovic, Marcela Konjevod, Oliver Kozumplik, Dubravka Svob Strac, Zrnka Kovacic Petrovic, Ninoslav Mimica, Nela Pivac   +10 more
doaj   +1 more source

Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele

Blood Cancer Journal, 2016
Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 ...
M. Sakurai, H. Kasahara, Kenichi Yoshida, A. Yoshimi, H. Kunimoto, N. Watanabe, Y. Shiraishi, K. Chiba, Hirotoshi Tanaka, Y. Harada, H. Harada, T. Kawakita, M. Kurokawa, S. Miyano, Satoru Takahashi, S. Ogawa, S. Okamoto, H. Nakajima   +17 more
semanticscholar   +1 more source