Publications by authors named "S M Stivaros"
Article Synopsis
- New diagnostic criteria for NF2-related schwannomatosis were established in 2022, leading to an updated prevalence study in the UK, which focused on the rate of de novo NF2 cases.
- A total of 1,084 living NF2 patients were identified, indicating a prevalence of 1 in 61,332, with a striking 72% of cases being de novo, many of which were mosaic.
- The findings also revealed that nonsense variants were most common (24.8%), while missense variants had a higher familial association (56%), emphasizing the importance of patient databases for accurate genetic counseling.
Ackground: There is a need to operationalize existing clinical data to support precision medicine in progressive hearing loss (HL). By utilizing enlarged vestibular aqueduct (EVA) and its associated inner ear abnormalities as an exemplar, we model data from a large international cohort, confirm prognostic factors for HL, and explore the potential to generate a prediction model to optimize current management paradigms.
Methods: An international retrospective cohort study.
Objective: Morphological features of an enlarged endolymphatic duct (ED) and sac (ES) are imaging biomarkers for genotype and hearing loss phenotype. We determine which biomarkers can be measured in a reproducible manner, facilitating further clinical prediction studies in enlarged vestibular aqueduct hearing loss.
Methods: A rater reproducibility study.
Background: Radiation treatment of benign tumors in tumor predisposition syndromes is controversial, but short-term studies from treatment centers suggest safety despite apparent radiation-associated malignancy being reported. We determined whether radiation treatment in NF2-related schwannomatosis patients is associated with increased rates of subsequent malignancy (M)/malignant progression (MP).
Methods: All UK patients with NF2 were eligible if they had a clinical/molecular diagnosis.
Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. Proposals for NF1 care and its specific manifestations have been developed, but lack integration within routine care.
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