Pathophysiological Drivers of Mast Cell Activation Syndrome and Implications for Treatment.
Mast Cell Activation Syndrome (MCAS) is an underrecognized multisystem disorder causing nonspecific and diverse symptoms, making it difficult for clinicians to diagnose and treat. This comprehensive review provides an overview of the signs and symptoms of MCAS while investigating the known pathophys…
Hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome: patient experiences, disability and implications for rehabilitation.
The diagnosis and management of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome (HSD/hEDS) are a healthcare challenge because of the wide array of symptoms, lack of diagnostic biomarkers, and evolving management guidelines. This study aimed to describe patient experiences, di…
EXPRESS: Post-stenotic hemodynamics in intracranial atherosclerosis are associated with endothelial activation and pro-thrombotic signaling.
Intracranial atherosclerotic disease (ICAD) is a leading cause of ischemic stroke, yet how post-stenotic cerebral hemodynamics regulate endothelial phenotype remains poorly defined. We tested whether focal post-stenotic low wall shear stress (WSS) in patient-specific middle cerebral artery (MCA) ste…
A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU.
Major congenital anomalies (MCAs) are a leading cause of neonatal morbidity and mortality and frequently reflect underlying chromosomal, copy number, or single-gene defects. In neonates with multiple MCAs, early molecular diagnosis is critical but remains challenging due to phenotypic heterogeneity,…
High-Specificity Detection of Chromosomal Mosaicism Reveals Cell-Type-Specific Genomic Alteration Patterns in Aging Tissues.
Mosaic chromosomal alterations (mCAs) increase with age and are associated with multiple diseases, yet the cell types and states that harbor these alterations remain largely unknown. Because mCAs arise in individual cells prior to clonal expansion, they are typically rare and obscured in bulk data.…
Gastrointestinal Manifestations and Nutrition Support in Hypermobile Ehlers-Danlos, Postural Orthostatic Tachycardia, and Mast Cell Activation Syndromes.
Gastrointestinal symptoms are common and often severe in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders (hEDS/HSD), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). This review provides a structured, practical framework fo…