A national assessment of standards of care for inherited bleeding disorders in Canada.

Aim: The Canadian Integrated and Comprehensive Care Standards for Inherited Bleeding Disorders were adopted in June 2020. In early 2023, a self-assessment of each of the 26 Canadian inherited bleeding disorder treatment centre's (IBDTCs) capacity to meet the Standards was conducted. The goal was to validate the standards by assessing appropriateness and adherence.

Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry.

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.

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous disorders with cytopenia. Many IBMFSs also feature physical malformations and an increased risk of cancer. Point mutations can be identified in about half of patients.

The clinical impact of copy number variants in inherited bone marrow failure syndromes.

Inherited bone marrow failure syndromes (IBMFSs) comprise a genetically heterogeneous group of diseases with hematopoietic failure and a wide array of physical malformations. Copy number variants (CNVs) were reported in some IBMFSs. It is unclear what impact CNVs play in patients evaluated for a suspected diagnosis of IBMFS.

Epidemiology and Outcomes of Arterial Ischemic Stroke in Children: The Canadian Pediatric Ischemic Stroke Registry.

Background: Pediatric arterial ischemic stroke remains incompletely understood. Population-based epidemiological data inform clinical trial design but are scant in this condition. We aimed to determine age-specific epidemiological characteristics of arterial ischemic stroke in neonates (birth to 28 days) and older children (29 days to 18 years).

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Background: Phenotypic overlap among the inherited bone marrow failure syndromes (IBMFSs) frequently limits the ability to establish a diagnosis based solely on clinical features. >70 IBMFS genes have been identified, which often renders genetic testing prolonged and costly. Since correct diagnosis, treatment and cancer surveillance often depend on identifying the mutated gene, strategies that enable timely genotyping are essential.

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.

Inherited bone marrow failure syndromes are a group of rare, heterogeneous genetic disorders with a risk of clonal and malignant myeloid transformation including clonal marrow cytogenetic abnormalities, myelodysplastic syndrome and acute myeloid leukemia. The clinical characteristics, risk classification, prognostic factors and outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure syndromes are largely unknown. The aims of this study were to determine the impact of category, cytopathology and cytogenetics, the three components of the "Category Cytology Cytogenetics" classification of pediatric myelodysplastic syndrome, on the outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure.

Evaluating the ability to detect change of health-related quality of life in children with Hodgkin disease.

Background: We evaluated 4 different health-related quality of life (HRQL) measures prospectively to determine their ability to detect change over time: the Health Utilities Index Mark 2 and Mark 3, the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core and Cancer Module, the EuroQol EQ-5D visual analogue scale (EuroQol), and the Lansky Play-Performance Scale.

Methods: Children with all stages of Hodgkin disease from 12 centers across Canada were asked to complete the 4 measures at 4 time points: 2 weeks after the first course of chemotherapy, on the third day of the second course of chemotherapy, during the third week of radiation, and 1 year after diagnosis.

Bilateral decompressive craniectomy for refractory intracranial hypertension in a child with severe ITP-related intracerebral haemorrhage.

We report a 13-month-old infant who developed acutely elevated intracranial pressure (ICP) as a result of a spontaneous intracerebral haemorrhage (ICH), secondary to idiopathic thrombocytopenic purpura (ITP). Her ICP remained severely elevated despite aggressive medical measures, with persistent obtundation, right hemiparesis and a dilated left pupil. Bilateral decompressive craniectomies (DCs) were performed, which resulted in a rapid decline in ICP.

Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes.

Objective: Unclassified inherited bone marrow failure syndromes are a heterogeneous group of genetic disorders that represent either new syndromes or atypical clinical courses of known inherited bone marrow failure syndromes. The relative prevalence of the unclassified inherited bone marrow failure syndromes and their characteristics and the clinical and economic challenges that they create have never been studied.

Methods: We analyzed cases of inherited bone marrow failure syndrome in the Canadian Inherited Marrow Failure Registry that were deemed unclassifiable at study entry.