Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.

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 diathesis resulting from point mutations the 5'UTR of the ANKRD26 gene. Point mutations in the 5'UTR region have been shown to prevent transcription factor-mediated downregulation of ANKRD26 in normal megakaryocyte differentiation. Patients with ANKRD26-related thrombocytopenia have a predisposition to developing hematological malignancies, with acute myeloid leukemia and myelodysplastic syndrome most commonly described in the literature. We review the clinical features and biological mechanisms of ANKRD26-related thrombocytopenia and summarize known cases in the literature.

Optimizing Transplant Approaches and Post-Transplant Strategies for Patients With Acute Myeloid Leukemia.

Acute Myeloid Leukemia (AML) is the commonest indication for allogeneic stem cell transplantation (allo-SCT) worldwide. The increasingly important role of allo-SCT in the management of AML has been underpinned by two important advances. Firstly, improvements in disease risk stratification utilizing genetic and Measurable Residual Disease (MRD) technologies permit ever more accurate identification of allo-mandatory patients who are at high risk of relapse if treated by chemotherapy alone. Secondly, increased donor availability coupled with the advent of reduced intensity conditioning (RIC) regimens has substantially expanded transplant access for patients with high risk AML In patients allografted for AML disease relapse continues to represent the commonest cause of transplant failure and the development of novel strategies with the potential to reduce disease recurrence represents a major unmet need.

The impact of resuscitation guideline terminology on quality of dispatcher-assisted cardiopulmonary resuscitation: A randomised controlled manikin study.

BACKGROUND: Cardiopulmonary resuscitation (CPR) guidelines vary in the terminology used to describe target chest compression depth, which may impact CPR quality. We investigated the impact of using different chest compression depth instruction terminologies on CPR quality. METHODS: We conducted a parallel group, three-arm, randomised controlled manikin trial in which individuals without recent CPR training were instructed to deliver compression-only CPR for 2-min based on a standardised dispatcher-assisted CPR script. Participants were randomised in a 1:1:1 ratio to receive CPR delivery instructions that instructed them to deliver chest compressions based on the following terminologies: 'press at least 5 cm', 'press approximately 5 cm' or 'press hard and fast.' The primary outcome was compression depth, measured in millimetres. RESULTS: Between October 2017 and June 2018, 330 participants were randomised to 'at least 5 cm' (n = 109), 'approximately 5 cm' (n = 110) and 'hard and fast' (n = 111), in which mean chest compression depth was 40.9 mm (SD 13.8), 35.4 mm (SD 14.1), and 46.8 mm (SD 15.0) respectively. Mean difference in chest compression depth between 'at least 5 cm' and 'approximately 5 cm' was 5.45 (95% confidence interval (95% CI) 0.78-10.12), between 'hard and fast' and 'approximately 5 cm' was 11.32 (95% CI 6.65-15.99), and between 'hard and fast' and 'at least 5 cm' was 5.87 (95% CI 1.21-10.53). Chest compression rate and count were both highest in the 'hard and fast' group. CONCLUSIONS: The use of 'hard and fast' terminology was superior to both 'at least 5 cm' and 'approximately 5 cm' terminologies. TRIAL REGISTRATION: ISRCTN15128211.