Platelet transcriptome analysis in patients with germline RUNX1 mutations.

Background: Germline mutations in RUNX1 can cause a familial platelet disorder that may lead to acute myeloid leukemia, an autosomal dominant disorder characterized by moderate thrombocytopenia, platelet dysfunction, and a high risk of developing acute myeloid leukemia or myelodysplastic syndrome. Discerning the pathogenicity of novel RUNX1 variants is critical for patient management.

Objectives: To extend the characterization of RUNX1 variants and evaluate their effects by transcriptome analysis.

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. We established the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS; including platelet aggregation, flow cytometry, platelet dense granule content, electron microscopy and high-throughput sequencing (HTS). The clinical presentation showed significant heterogeneity and no clear phenotype-genotype correlations.

Enhancement of water diffusion and compression performance of crosslinked alginate films with a minuscule amount of graphene oxide.

A series of calcium alginate composite hydrogels with several calcium chloride contents ranging from 3 to 18 wt.% with and without 0.1 wt.