Publications by authors named "N Fernandez-Mosteirin"

Aim: Joint damage due to haemarthrosis can be effectively monitored with point-of care ultrasound using the Haemophilia Early Arthropathy Detection with US (HEAD-US) scoring system. A post hoc comparative analysis of the joint status of patients with severe haemophilia A (HA) or B (HB) was performed.

Methods: The databases of two observational, cross-sectional studies that recruited patients with HA or HB from 12 Spanish centres were analysed to compare the status of the elbows, knees and ankles in patients with severe disease according to treatment modality.

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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: The number of patients treated with coagulation disorders, and more specifically with anticoagulant therapy, has increased worldwide in recent years due to increased life expectancy in developed countries. The protocols for managing this type of patient in oral surgery has varied over recent years, especially after the appearance of new direct-acting oral anticoagulants (DOACs). The assessment of risk of bleeding in this type of patient when undergoing a surgical procedure continues to be a controversial issue for patients, dentists and general practitioners.

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