Publications by authors named "V Rose Fernandez"

The endosseous labyrinths are associated with several functions, including hearing and spatial orientation. Throughout their evolutionary history, crocodylomorphs have thrived in diverse environments, and the morphology of their endosseous labyrinths has been suggested as a proxy for inferring their lifestyle. However, the relationships between the shape of their endosseous labyrinths and ontogenetic and phylogenetic factors are difficult to interpret and have rarely been investigated in depth previously, particularly in terms of dataset size.

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Synovial ganglions, common soft tissue tumors of the hand and wrist, typically occur in the dorsal and volar aspects of the wrist, but intra-articular cases are rare. We present a case of a 27-year-old equestrian with persistent left wrist pain who was diagnosed with an intra-articular radiocarpal synovial ganglion after failed conservative management. Arthroscopic resection led to complete resolution of symptoms and functional recovery.

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To date, sparse attention has been paid to the importance of the "lived experience" of participants and their caregivers in pediatric gene therapy (GT) trials for rare genetic neurological disorders. Pediatric GT studies differ meaningfully from adult GT studies as the decision to participate involves a dyad: the child participant and their caregiver(s). As a multistakeholder group of authors, we are a diverse group with expert perspectives on the social, emotional, physical, and logistical burdens/benefits of trial participation and the myriad ways they affect pediatric GT research.

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Background And Objectives: The role of the complement system in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is not completely understood, and studies exploring its potential utility for diagnosis and prognosis are lacking. We aimed to investigate the value of complement factors (CFs) as diagnostic and prognostic biomarkers in patients with MOGAD.

Methods: Multicentric retrospective cohort study including patients with MOGAD, multiple sclerosis (MS) and aquaporin-4 seropositive neuromyelitis optica spectrum disorder (AQP4-NMOSD) with available paired serum and CSF samples.

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Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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