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| http://dx.doi.org/10.1002/mds.25478 | DOI Listing |
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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.
Ann Clin Transl Neurol
January 2025
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
View Article and Find Full Text PDFExposure to the Polychlorinated biphenyl mixture Aroclor 1254 elicits neurological and cardiac developmental effects in early life stage zebrafish (Danio rerio).
Chemosphere
February 2025
University of North Texas, Department of Biological Sciences and Advanced Environmental Research Institute, Denton, TX, 76203, USA. Electronic address:
The goal of this study was to compare the bioaccumulation of the PCB mixture Aroclor 1254 in zebrafish to cardiac and neurologic outcomes. The establishment of effect concentrations (ECs) for cardiac and neurotoxic effects of PCBs in early life stage fish is challenging due to a lack of measured PCB concentrations in test media (e.g.
View Article and Find Full Text PDFTimolol 0.5% Eye Drops for Essential Tremor: First Successful Case Report.
Mo Med
December 2024
Neurologist specializing in headache treatment, Kansas City, Missouri.
This paper presents a new treatment modality, timolol 0.5% eye drops either topical to normal eyes or preferably by a compounded nasal spray for episodic use in patients with mild to moderate essential tremor. This would primarily be patients wishing to damp their tremors on certain occasions or who were not able to tolerate daily oral beta blockers.
View Article and Find Full Text PDFUsing a mixed-reality headset to elicit and track clinically relevant movement in the clinic.
J Neurosci Methods
March 2025
Charleston Area Medical Center, Charleston, WV, USA.
Background: 21st century neurology will require scalable and quantitative tools that can improve neurologic evaluations over telehealth and expand access to care. Commercially available mixed-reality headsets allow for simultaneous presentation of stimuli via holograms projected into the real world and objective and quantitative measurement of hand movement, eye movement, and phonation.
New Method: We created 6 tasks designed to mimic standard neurologic assessments and administered them to a single participant via the Microsoft HoloLens 2 mixed-reality headset.
Evaluation of retinal microvascular changes with OCT-A in Parkinson disease and essential tremor.
Medicine (Baltimore)
December 2024
Department of Ophthalmology, Adana City Training and Research Hospital, Adana, Türkiye.
This study aimed to evaluate the presence and comparison of microvascular abnormalities in essential tremor (ET) and Parkinson disease (PD) using optical coherence tomography angiography (OCT-A) and to show the relationship between retinal microvascular changes and disease stage in the patient group. A total of 176 eyes, including 26 PD diagnosed according to the United Kingdom PD Society Brain Bank criteria, 31 ET diagnosed according to the Washington heights-inwood genetic study of ET (WHIGET) criteria and 31 healthy controls, were included in the study. Unified PD assessment scale (UPDRS) motor scores, non-motor symptom scale (NMS), modified Hoehn&Yahr stages (mH&Y) and Fahn-Toloso-Marin grading scale were recorded.
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