Key Points• GATA1 mutations are common in neonates with Down syndrome but are often unsuspected and detectable only with sensitive methods.• Multilineage blood abnormalities in all Down syndrome neonates in the absence of GATA1 mutations suggests that trisomy 21 itself perturbs hemopoiesis.Transient abnormal myelopoiesis (TAM), a preleukemic disorder unique to neonates with Down syndrome (DS), may transform to childhood acute myeloid leukemia (ML-DS). Acquired GATA1 mutations are present in both TAM and ML-DS. Current definitions of TAM specify neither the percentage of blasts nor the role of GATA1 mutation analysis.To define TAM, we prospectively analyzed clinical findings, blood counts and smears, and GATA1 mutation status in 200 DS neonates. All DS neonates had multiple blood count and smear abnormalities. Surprisingly, 195 of 200 (97.5%) had circulating blasts. GATA1 mutations were detected by Sanger sequencing/denaturing high performance liquid chromatography (Ss/DHPLC) in 17 of 200 (8.5%), all with blasts >10%. Furthermore lowabundance GATA1 mutant clones were detected by targeted next-generation resequencing (NGS) in 18 of 88 (20.4%; sensitivity ∼0.3%) DS neonates without Ss/DHPLC-detectable GATA1 mutations. No clinical or hematologic features distinguished these 18 neonates. We suggest the term "silent TAM" for neonates with DS with GATA1 mutations detectable only by NGS. To identify all babies at risk of ML-DS, we suggest GATA1 mutation and blood count and smear analyses should be performed in DS neonates. Ss/DPHLC can be used for initial screening, but where GATA1 mutations are undetectable by Ss/DHPLC, NGS-based methods can identify neonates with small GATA1 mutant clones. (Blood. 2013;122(24):3908-3917)
Although one third of neonates enrolled in this study developed thrombocytopenia of <20 x 10(9) platelets per L, 91% did not develop major hemorrhage. Most platelet transfusions were given to neonates with thrombocytopenia with no bleeding or minor bleeding only.
Idiopathic ventricular arrhythmias commonly originate from the right ventricular and left ventricular outflow tracts (OTs). Advances in real-time imaging have refined our understanding of the intimate anatomic structures implicated in the genesis of OT arrhythmias, making catheter ablation for arrhythmias beyond the right ventricular OT a feasible option for cure—indeed ablation is now a class I indication in recent guidelines. The surface 12-lead ECG is routinely used to localize the anatomic site of origin before catheter ablation. However, the intimate and complex anatomy of the OT limits predictive value ECG criteria alone for localization for these arrhythmias. Multiple ECG algorithms have been developed to assist preprocedural localization, and hence predict safety and efficacy for catheter ablation of OT ventricular arrhythmias. This review will summarize all of the published 12-lead ECG algorithms used to guide localization of OT ventricular arrhythmias.
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The majority of neonates with ST bleed, although most episodes are minor. These findings establish the importance of clinical factors for bleeding risk, rather than minimum platelet count. Further studies should assess the clinical significance of different types of minor bleed for neonatal outcomes, the predictive value of minor bleeding for major bleeding and the role of platelet transfusions in preventing bleeding.
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