H. Moritake

Efficacy and safety of risk-stratified chemotherapy with azacitidine for children with myeloid leukaemia with Down syndrome: protocol for a multicentre phase II trial (JCCG AML-D24)

Abstract Introduction The prognosis of myeloid leukaemia associated with Down syndrome (ML-DS) is excellent with reduced-intensity chemotherapy; however, that of refractory or relapsed ML-DS remains dismal. These contrasting outcomes highlight the importance of risk-stratified therapy, based on reliable prognostic fact...

Preterm birth, body mass index trajectories, and risk of thinness in early childhood: the Japan Environment and Children’s study

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

We previously reported inherited retinoic acid-related orphan receptor γ T (RORγT) deficiency in seven patients from three ancestries (Chilean, Palestinian, and Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgha...

Cardiovascular complications in adults with clinically diagnosed osteogenesis imperfecta: A cross-sectional study with echocardiography and magnetic resonance imaging.

BACKGROUND Osteogenesis imperfecta (OI) is a congenital bone fragility disorder, in which 90% of patients have abnormalities in type 1 collagen. Cardiovascular complications, including valvular heart disease and vascular aneurysms, are reportedly comorbid with this disease. METHODS Forty-three adult Japanese patients...

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants

Findings indicate that p.Arg202Gly behaves as WT-like in the assays performed and do not support a loss-of-function effect, emphasizing the importance of variant-level functional assessment for rare ETV6 variants to inform clinical interpretation and avoid overestimation of pathogenicity.