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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFCBTI implementation outcomes: one-year follow up.
Cogn Behav Ther
January 2025
Department of Psychiatry and Behavioral Sciences, The Medical University of South Carolina, Charleston, SC, USA.
Insomnia is a common and debilitating disorder that is often undiagnosed and untreated. Cognitive behavioral therapy for insomnia (CBTI) is the first-line treatment for insomnia, though the lack of trained providers is a major barrier to accessibility. To address this issue, an online provider training platform, CBTI, was launched in April 2020.
View Article and Find Full Text PDFMaking a Difference from Day One: The Urgent Need for Universal Neonatal Hearing Screening.
Children (Basel)
December 2024
Department of Audiology, Otology, Neurotology & Cochlear Implant Unit, Athens Pediatric Center, 15125 Athens, Greece.
Neonatal hearing screening (NHS) is a critical public health measure for early identification of hearing loss, ensuring timely access to interventions that can dramatically improve a child's language development, cognitive abilities, and social inclusion. Beyond clinical benefits, NHS provides long-term advantages in education and quality of life. Given that congenital hearing loss affects approximately 1-2 in every 1000 newborns worldwide, the case for universal screening is clear.
View Article and Find Full Text PDFExploring the Complex Relationship Between Antidepressants, Depression and Neurocognitive Disorders.
Biomedicines
November 2024
Department of Clinical Neurosciences, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
The coexistence of dementia and depression in older populations presents a complex clinical challenge, with each condition often exacerbating the other. Cognitive decline can intensify mood disturbances, and untreated or recurring depression accelerates neurodegenerative processes. As depression is a recognized risk factor for dementia, it is crucial to address both conditions concurrently to prevent further deterioration.
View Article and Find Full Text PDFRobust and interpretable AI-guided marker for early dementia prediction in real-world clinical settings.
EClinicalMedicine
August 2024
Department of Psychology, University of Cambridge, Cambridge, CB2 3EB, United Kingdom.
Background: Predicting dementia early has major implications for clinical management and patient outcomes. Yet, we still lack sensitive tools for stratifying patients early, resulting in patients being undiagnosed or wrongly diagnosed. Despite rapid expansion in machine learning models for dementia prediction, limited model interpretability and generalizability impede translation to the clinic.
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