Prescreened Whole O Blood Group Walking Blood Bank Capabilities for Nontraditional Maritime Medical Receiving Platforms: A Case Series.

Background: Tactical Combat Casualty Care (TCCC) guidelines recognize low-titer group O whole blood (LTOWB) as the resuscitative fluid of choice for combat wounded. Utilization of prescreened LTOWB in a walking blood bank (WBB) format has been well described by the Ranger O low-titer blood (ROLO) and the United States Marine Corps Valkyrie programs, but it has not been applied to the maritime setting.

Methods: We describe three WBB experiences of an expeditionary resuscitative surgical system (ERSS) team, attached to three nontraditional maritime medical receiving platforms, over 6 months.

Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.

Lynch syndrome (LS) is a common hereditary cancer syndrome caused by heterozygous germline pathogenic variants in DNA mismatch repair (MMR) genes. Splicing defect constitutes one of the major mechanisms for MMR gene inactivation. Using RT-PCR based RNA analysis, we investigated 24 potential spliceogenic variants in MMR genes and determined their pathogenicity based on refined splicing-related American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria.

From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.

Background: The MLH1 gene is one of the DNA mismatch repair genes (MMR), implicated in Lynch syndrome (LS), an autosomal dominant hereditary tumor susceptibility disease. The advent of next-generation sequencing (NGS) technologies has accelerated the diagnosis of inherited diseases and increased the percentage of diagnosis of inherited cancers. However, some complex genomic alterations require the combination of several analytical strategies to allow correct biological interpretations.