Bernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common. Diagnosis can be confirmed using a ristocetin test and a peripheral blood smear.
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January 2025
Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Constitutional platelet disorders have become better understood since Bernard and Soulier first described a case in 1948. Their diagnosis can also be challenging due to overlap in clinical presentation and lab findings with platelet type von Willebrand. Bernard-Soulier syndrome is a disorder caused by GPIb receptor mutations that decrease its affinity for von Willebrand factor resulting in reduced platelet function and macrothrombocytopenia.
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Division of Hematology, Faculty of Medicine, Excellence Center in Translational Hematology, Chulalongkorn University, Bangkok, Thailand.
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Department of Materials and Environmental Chemistry, Stockholm University, Svante Arrhenius väg 16, 11418 Stockholm, Sweden.
Nontargeted screening (NTS) utilizing liquid chromatography electrospray ionization high-resolution mass spectrometry (LC/ESI/HRMS) is increasingly used to identify environmental contaminants. Major differences in the ionization efficiency of compounds in ESI/HRMS result in widely varying responses and complicate quantitative analysis. Despite an increasing number of methods for quantification without authentic standards in NTS, the approaches are evaluated on limited and diverse data sets with varying chemical coverage collected on different instruments, complicating an unbiased comparison.
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Department of Pediatrics, Unit of Pediatric Hematology, Faculty of Medicine, Gazi University, Ankara, Turkey.
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