We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD.
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http://dx.doi.org/10.1007/s00247-002-0776-6 | DOI Listing |
Ann Surg Oncol
January 2025
Department of Surgery, Clarunis St. Clara Hospital & University Hospital Basel, Basel, Switzerland.
BMC Neurosci
January 2025
Department of Operative Dentistry and Periodontology, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
Background: Parkinson's disease (PD) is a neurodegenerative disorder characterized by protein aggregates mostly consisting of misfolded alpha-synuclein (αSyn). Progressive degeneration of midbrain dopaminergic neurons (mDANs) and nigrostriatal projections results in severe motor symptoms. While the preferential loss of mDANs has not been fully understood yet, the cell type-specific vulnerability has been linked to a unique intracellular milieu, influenced by dopamine metabolism, high demand for mitochondrial activity, and increased level of oxidative stress (OS).
View Article and Find Full Text PDFNat Rev Urol
January 2025
Section of Cancer Epidemiology and Health Outcomes, Rutgers Cancer Institute, New Brunswick, NJ, USA.
Urological diseases and their varied forms of management warrant special attention in the setting of climate change. Regarding urological cancers, climate change will probably increase the incidence and severity of cancer diagnoses through exposures to certain environmental risk factors, while simultaneously disrupting cancer care delivery and downstream outcomes. Regarding benign urological diseases, a burgeoning body of work exists on climate-related heat waves, dehydration, urolithiasis, renal injury and infectious and vector-borne diseases.
View Article and Find Full Text PDFEur J Cancer
January 2025
Melanoma Institute Australia, The University of Sydney, Wollstonecraft, Australia; Blacktown Hospital, Blacktown, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia; Mater Hospital, North Sydney, NSW, Australia; Charles Perkins Centre, The University of Sydney, Sydney, NSW, Australia. Electronic address:
Aim: Merkel Cell Carcinoma (MCC) is a rare skin cancer with a rising incidence worldwide. Anti-programmed death-1/ligand-1 (anti-PD-(L)1) therapies are effective for the treatment of advanced MCC. This study examines patterns of response / progression of advanced MCC to anti-PD-(L)1 therapies and describes subsequent management.
View Article and Find Full Text PDFAnn Rheum Dis
January 2025
Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA. Electronic address: https://twitter.com/david_felson.
Background: Preventing worsening osteoarthritis (OA) in persons with early OA is a major treatment goal. We evaluated if different early OA definitions yielded enough cases of worsening OA within 2-5 years to make trial testing treatments feasible.
Methods: We assessed different definitions of early OA using data from Multicenter Osteoarthritis (MOST) Study participants who were followed up longitudinally.
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