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Current and Emerging Therapies for Lysosomal Storage Disorders.
Drugs
January 2025
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, NW3 2QG, UK.
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected.
View Article and Find Full Text PDFDiffusion changes in minimally invasive parafascicular approach for deep-seated tumours: impact on clinical outcomes.
Neurosurg Rev
January 2025
Department of Neurosurgery, King's College Hospital Foundation Trust, London, UK.
Minimally invasive parafascicular surgery (MIPS) with the use of tubular retractors achieve a safe resection in deep seated tumours. Diffusion changes noted on postoperative imaging; the significance and clinical correlation of this remains poorly understood. Single centre retrospective cohort study of neuro-oncology patients undergoing MIPS.
View Article and Find Full Text PDFA Podcast on the Rhythms of Healing: Patient and Physician Insights on Art, Music, Dance Therapy and Creativity in Parkinson's Disease.
Neurol Ther
January 2025
Department of Medicine, North Tyneside General Hospital, Rake Lane, North Shields, NE29 8NH, UK.
This is an outline for a podcast. Parkinson's Disease (PD) is a progressive neurodegenerative disease in which there is increasing loss of dopamine neurones from the basal ganglia (Simon et al. Clin Geriatr Med.
View Article and Find Full Text PDFMultidimensional fatigue and its impact on work productivity, mood and quality of life in long-term survivors following definitive intensity-modulated radiotherapy for oropharyngeal cancer: A cross-sectional study.
J Cancer Surviv
January 2025
Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.
Purpose: Radiotherapy (RT) for oropharyngeal cancer (OPC) can lead to late toxicity. Fatigue is a known debilitating issue for many cancer survivors, yet prevalence and severity of long-term fatigue in patients treated for OPC is unknown.
Method: As part of a mixed-methods study, fatigue in OPC patients ≥ 2 years post RT + / - chemotherapy was evaluated.
Reciprocal relationships between adolescent mental health difficulties and alcohol consumption.
Eur Child Adolesc Psychiatry
January 2025
School of Psychology, Centre for Innovation in Mental Health, University of Southampton, University Road, Southampton, SO17 1BJ, UK.
The directionality of the relationship between adolescent alcohol consumption and mental health difficulties remains poorly understood. This study investigates the longitudinal relationship between alcohol use frequency, internalizing and externalizing symptoms from the ages of 11 to 17. We conducted a random-intercept cross-lagged panel model across three timepoints (ages: 11yrs, 14yrs, 17yrs; 50.
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