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Macrocytosis in Mitochondrial DNA Deletion Syndromes
Acta Haematol. 2023 Feb 10. doi: 10.1159/000529311. Online ahead of print.ABSTRACTLarge single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [1-2]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy. Here, we describe a 62-year-old ...
Source: Acta Haematologica - February 12, 2023 Category: Hematology Authors: Farida Almarzooqi Hilary Vallance Michelle M Mezei Anna Lehman Gabriella Horvath Bojana Rakic Leslie Zypchen Andre Mattman Source Type: research

Dose Specific Effectiveness and Safety of DOACs in Patients with Non-valvular Atrial Fibrillation: a Canadian Retrospective Cohort Study
Direct oral anticoagulants (DOACs) have been proven to be effective and safe for prevention of ischemic stroke and systemic embolism in patients with non-valvular atrial fibrillation (NVAF). However, suboptimal adherence, variable dosing and use in patient populations that otherwise would have been excluded from clinical trials may impact the efficacy and safety profile of DOACs in a routine care setting. We compared stroke, bleeding, and mortality rates on and off therapy for standard and low-dose DOACs (apixaban, rivaroxaban, dabigatran) versus warfarin in a Canadian cohort.
Source: Thrombosis Research - May 10, 2021 Category: Hematology Authors: Elham Rahme, Richard Godin, Hacene Nedjar, Kaberi Dasgupta, Vicky Tagalakis Source Type: research

Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population.
Abstract Risk factors for arterial ischaemic stroke in children include vasculopathy and prothrombotic risk factors but their relative importance to recurrent stroke is uncertain. Data on recurrent stroke from the databases held in Canada (Toronto), Germany (Kiel-Lubeck/Munster), and UK (London/Southampton) were pooled. Data were available from 894 patients aged 1 month to 18 years at first stroke (median age 6 years) with a median follow-up of 35 months. 160/894 patients (17.9%) had recurrence from 1 day to 136 months after first stroke (median 3.1 months). Among 288 children with vasculopathy, recurrence was sig...
Source: Haematologica - January 24, 2019 Category: Hematology Authors: deVeber G, Kirkham F, Shannon K, Brandão L, Sträter R, Kenet G, Clausnizer H, Moharir M, Kausch M, Askalan R, MacGregor D, Stoll M, Torge A, Dlamini N, Ganesan V, Prengler M, Singh J, Nowak-Göttl U Tags: Haematologica Source Type: research

Thrombotic and Bleeding Outcomes Following Perioperative Interruption of Direct Oral Anticoagulants and Vitamin K Antagonists in Patients with Non-Valvular Atrial Fibrillation - a Comparative Analysis
Conclusions: The perioperative interruption of warfarin was associated with a higher 30-day rate of major bleeding as compared with DOAC interruption. Re-initiation of warfarin should be done judiciously following high bleeding risk procedures, and close INR monitoring may be warranted.DisclosuresShaw: Portola Pharmaceuticals: Research Funding. Douketis: Janssen: Consultancy; Pfizer: Other: Advisory Board; Boehringer-Ingelheim: Consultancy, Other: Advisory Board, Research Funding; Portola: Other: Advisory Board; The Medicines Company: Other: Advisory Board; Daiichi-Sankyo: Other: Advisory Board; Biotie: Other: Advisory Boa...
Source: Blood - November 21, 2018 Category: Hematology Authors: Shaw, J. R., Zhang, T., Le Gal, G., Douketis, J., Carrier, M. Tags: 332. Antithrombotic Therapy: Poster I Source Type: research

Recurrent Stroke: The Role of Thrombophilia in a Large International Pediatric Stroke Population
CONCLUSIONS:Identifying children at increased for recurrent AIS events is important in intensifying preventative measures. Among 894 Canadian, English and German pediatric stroke patients, 17.9% experienced recurrent AIS at a median of 3.1 months after the index stroke. The presence of more than one prothrombotic risk factor is associated with AIS recurrence in childrenDisclosuresNo relevant conflicts of interest to declare.
Source: Blood - November 21, 2018 Category: Hematology Authors: Deveber, G., Kirkham, F. J., Shannon, K., Brandao, L. R., Strater, R., Kenet, G., Clausnizer, H., Moharir, M., Kausch, M., Askalan, R., MacGregor, D., Stoll, M., Torge, A., Dlamini, N., Ganesan, V., Prengler, M., Singh, J., Nowak Goettl, U. Tags: 331. Pathophysiology of Thrombosis: Poster III Source Type: research

Management of Cerebral Vein Thrombosis in a Canadian Tertiary Hospital
Introduction: Cerebral vein thrombosis (CVT) is an uncommon cause of stroke and is more likely to affect young adults and children. Women have a three-fold increased risk compared to men, owing to gender specific factors such as oral contraceptive use (OCP), pregnancy, and hormone replacement therapies. The presenting symptoms of CVT are non-specific and include headache, seizure, focal neurological deficits, or coma as the most severe presentation. The rarity and variable symptoms of the disease leads to delayed diagnosis and implementation of treatment. With improved imaging techniques and increased awareness in recent y...
Source: Blood - November 21, 2018 Category: Hematology Authors: Castellucci, L. A., Chiang, P. Tags: 332. Antithrombotic Therapy: Poster II Source Type: research

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