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Classification of inherited bone marrow failure syndromes (IBMFSs) according to clinical and genetic diagnoses enables proper adjustment of treatment. Unfortunately, 30% of patients enrolled in the Canadian Inherited Marrow Failure Registry (CIMFR) with features suggesting hereditability could not be classified with a specific syndromic diagnosis. We analyzed the outcome of hematopoietic stem cell transplantation (HSCT) in unclassified IBMFSs (uIBMFSs) and the factors associated with outcome. Twenty-two patients with uIBMFSs and 70 patients with classified IBMFSs underwent HSCT. Five-year overall survival of uIBMFS patients after HSCT was inferior to that of patients with classified IBMFSs (56% vs 76.5%). The outcome of patients with uIBMFS who received cord blood was significantly lower than that of patients who received other stem cell sources (14.8% vs 90.9%). Engraftment failure was higher among patients with uIBMFS who received cord blood than those who received bone marrow. None of the following factors were significantly associated with poor survival: transfusion load, transplant indication, the intensity of conditioning regimen, human leukocyte antigen-identical sibling/alternative donor. We suggest that identifying the genetic diagnosis is essential to modulate the transplant procedure including conditioning agents and stem cell sources for better outcome and the standard cord blood transplantation (CBT) should be avoided in uIBMFS., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Progressive cytopenia is a serious complication among paediatric patients with inherited bone marrow failure syndromes (IBMFS). Androgens have been used to improve blood counts in different bone marrow failure conditions. Little is known about efficacy and toxicity with new androgens (i.e., danazol) in different types of IBMFS. We identified 29 patients from the Canadian Inherited Marrow Failure Registry, who received oxymetholone or danazol. Sixteen (55%) had haematological response including patients with unclassified IBMFS (45%). Danazol showed a better toxicity profile and similar efficacy compared to oxymetholone. Androgens are an effective and safe option to ameliorate bone marrow failure in IBMFS., (© 2020 British Society for Haematology and John Wiley & Sons Ltd.)

Introduction: It is unclear which outcome indicators should be used to measure the success of haemophilia transition programs, and what are key elements of a haemophilia transition program to ensure success., Aim: To establish by expert consensus a list of important and feasible outcome indicators of successful haemophilia transition, and a list of key elements of transition planning., Methods: A modified two-stage Delphi survey was developed and disseminated among a panel of Canadian interdisciplinary haemophilia care providers. Participants were asked to rate the importance and feasibility of outcome indicators of effective haemophilia transition and elements of haemophilia transition program. In the second round, participants were asked to choose the top five outcomes suitable for inclusion in a core outcome set of transition effectiveness, and the top five elements that are important and feasible for implementation within the next 5 years., Results: In total, 34/73 (47%) of participants completed the first round and 33 completed the second round, representing a variety of disciplines. Top outcome indicators recommended for a core outcome set include measurement of adherence, change in bleeding rate, self-efficacy skills, haemophilia knowledge, patient and caregiver satisfaction, time gap between last paediatric and first adult clinic, and number of emergency room or hospital admissions. Fourteen elements of transition achieved consensus in importance ratings, while eight were felt to be feasible for implementation within next 5 years., Conclusions: Results will contribute towards the development of a haemophilia transition outcome instrument and provide guidance for future studies of the effectiveness of transition programs., (© 2019 John Wiley & Sons Ltd.)

Objective: Analgesia and sedation for painful procedures in children are safe and effective, yet our experience is that pain management during lumbar puncture is suboptimal. We aim to document factors that influence residents' decisions to use analgesia and sedation during lumbar puncture and to compare pediatric and emergency medicine residents' practices., Methods: A survey was developed and sent to pediatric and emergency medicine residents from across Canada that inquired about clinical practices, learning experiences, current use of analgesia and sedation for lumbar puncture, and their clinical reasoning for using or abstaining from using analgesia and sedation. The Student's t and chi2 tests were used to compare the 2 resident groups., Results: Of the 374 residents to whom the survey was sent, 245 completed the survey. Pediatric residents reported performing lumbar punctures with no local anesthetic much more frequently. Pediatric residents used EMLA (AstraZeneca, Wilmington, DE) more frequently and injectable lidocaine less frequently. Pediatric residents used sedation for lumbar puncture at least once, more frequently than emergency medicine residents, and used mostly benzodiazepines. Both groups used ketamine at a similar rate. Pediatric residents reported that they witnessed adverse events of sedation more frequently. Although pediatric residents were responsible for teaching trainees the lumbar-puncture procedure significantly more frequently, they reported less educational opportunities during residency themselves and that they were less likely to recommend the use of local anesthetic during lumbar puncture when teaching the procedure., Conclusions: Several significant differences exist between the pediatric residents and emergency medicine residents we surveyed. Pediatric residents were using less injectable local anesthesia for lumbar puncture in children and more sedation for the procedure and have had notably less training in the use of sedation. Pediatric residents have more teaching responsibilities than their emergency medicine residents colleagues and are inconsistently recommending the use of local anesthetics for lumbar puncture.