Publications by authors named "Ana Sanchez-Fuentes"

Purpose: Peripherally inserted central venous catheters (PICC) in the onco-hematological patients may be associated with thrombosis or infections that may have short- to medium-term repercussions.

Material And Methods: Single-centre retrospective analysis of a prospectively collected cohort. Primary objective was to establish the PICC-thrombosis and infections incidence.

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Article Synopsis
  • Genetic diagnosis of inherited platelet disorders (IPDs) often relies on high-throughput sequencing (HTS), but this method can miss important genetic variations.
  • This study evaluated nanopore long-read DNA sequencing as a more effective way to identify structural variants in patients previously diagnosed with Glanzmann thrombasthenia and Hermansky-Pudlak syndrome, where HTS had failed.
  • Nanopore sequencing successfully uncovered complex genetic changes and allowed for detailed identification of variants, demonstrating its value as a complementary diagnostic tool for IPDs.
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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.

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Src-related thrombocytopenia (SRC-RT) is a rare autosomal dominant, inherited platelet disorder resulting from the p.E527K heterozygous germline gain-of-function variant of Src. To date, genetic diagnosis of the disease has only been reported in 7 patients from 3 unrelated families.

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Non-vitamin K antagonist oral anticoagulants (NOACs) are a therapeutic option to prevent stroke in patients with atrial fibrillation (AF). In fact, NOACs have become the recommended choice by international clinical practice guidelines over vitamin K antagonists (VKA), because of their efficacy and safety profile, especially in newly initiated patients. The more predictable pharmacokinetic and pharmacodynamic profile of this family of drugs allows preventing anticoagulation drug monitoring.

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