RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia
Clinical Pediatric Hematology-Oncology, 2021 One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis.
Yujin Nam, Gyu Min Yeon, Seom Gim Kong
doaj +1 more source
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 +9 more
doaj +1 more source
Brain Science, 2021 Background: Several inflammatory hypotheses have been suggested to explain the etiopathogenesis of bipolar disorder (BD) and its different phases. Neutrophil-to-lymphocyte (NLR), platelet-to-lymphocyte (PLR), and monocyte-to-lymphocyte (MLR) ratios have ...
L. Fusar-Poli +8 more
semanticscholar +1 more source
Platelets, 2022 ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding ...
Hrushikesh Vyas +5 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 +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
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment [PDF]
, 2020 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase.
Bax, BE
core +1 more source
Platelet monoamine oxidase activity in alcoholics with and without a family history of alcoholism [PDF]
, 2000 A number of studies point at platelet monoamine oxidase (MAO) activity being reduced in alcoholics with a family history of drinking, this being a possible vulnerability marker for alcoholism.
Benda, Ellen +5 more
core +1 more source
Hemorheological Failure in the Pathology of Cardio-vascular Complications in Patients with Diabetic Foot Syndrome [PDF]
, 2016 The literature that includes the study of cardiovascular complications in patients with diabetic foot syndrome was analyzed. The topicality of this problem is caused by the steady growth of diabetes mellitus morbidity among people.
Кorobko, Е. (Еlina)
core +2 more sources
Chemokines in depression in health and in inflammatory illness: a systematic review and meta-analysis [PDF]
, 2018 Inflammatory illness is associated with depression. Preclinical work has shown that chemokines are linked with peripheral–central crosstalk and may be important in mediating depressive behaviours.
Cavanagh, J. +5 more
core +1 more source