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Introduction: CLN8-Batten disease is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. Mutations in CLN8 result in characteristic Batten disease symptoms and brain-wide pathology including accumulation of lysosomal storage material, gliosis, and neurodegeneration. Recent investigations of other subtypes of Batten disease (CLN1, CLN3, CLN6) have emphasized the influence of biological sex on disease and treatment outcomes; however, little is known about sex differences in the CLN8 subtype.
View Article and Find Full Text PDFThe Learning Curve in Urogynecology and Functional Urology: A Systematic Review.
Int Urogynecol J
January 2025
Research Center for Evidence-Based Medicine, Iranian EBM Centre: A JBI Centre of Excellence, Faculty of Medicine, Tabriz University of Medical Sciences, Attar-E-Neishabouri Sqr., Tabriz, 51666, Iran.
Introduction And Hypothesis: When adopting new methods, surgeons may experience a period of complexity and longer operation times because of their inexperience. This period is known as the "learning curve." This study was aimed at systematically reviewing the current literature on functional urology learning curves.
View Article and Find Full Text PDFMIS transoral technique for C1-C2 cord compression - Intricacies using a 360⁰ navigated approach.
J Orthop Case Rep
January 2025
Spine Surgery Unit, Department of Orthopedics, Tan Tock Seng Hospital, Singapore.
Introduction: Surgeries in the occipitocervical and upper cervical region are always quite challenging and need adequate surgical experience and expertise. Especially in cases, where both anterior and posterior surgical access is required, complication rates could be significantly high. The transoral approach for the ventral pathologies of the upper cervical region has been previously described using the conventional open technique where post-operative morbidity is a concern.
View Article and Find Full Text PDFAlternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.
Mov Disord Clin Pract
January 2025
Department of Neurosurgery, Hannover Medical School, Hannover, Germany.
Background: The globus pallidus internus (GPi) is the traditional evidence-based deep brain stimulation (DBS) target for treating dystonia. Although patients with isolated "primary" dystonia respond best to GPi-DBS, some are primary or secondary nonresponders (improvement <25%), showing variability in clinical response.
Objective: The aim was to survey current practices regarding alternative DBS targets for isolated dystonia patients with focus on nonresponders to GPi-DBS.
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