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Clinical characterization of a novel p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.
Brain Commun
December 2024
Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Familial hemiplegic migraine type 2 results from pathogenic variants in the gene, which encodes for a catalytic subunit of sodium/potassium ATPase. This extremely rare autosomal dominant disorder manifests with a spectrum of symptoms, most commonly pure hemiplegic phenotype, epilepsy, and/or intellectual disability. In this study, we detail the clinical features and genetic analysis of nine patients from a large family spanning four generations, with all carrying a previously unreported likely pathogenic variant, p.
View Article and Find Full Text PDFOutcomes of Open-Globe Injuries With Associated Retinal Detachment: Experience at an Ocular Trauma Center.
J Vitreoretin Dis
December 2024
Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, IL, USA.
To characterize the clinical features and outcomes of open-globe injuries with associated retinal detachment (RD). A retrospective review was performed. Thirty-six patients with open-globe injuries and subsequent rhegmatogenous RD were analyzed between January 2016 and September 2021.
View Article and Find Full Text PDFA 1-month ketogenic diet in patients with migraine gives a clinical beneficial effect associated with increased latency of somatosensory thalamo-cortical activity.
Clin Neurophysiol Pract
November 2024
Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome Polo Pontino ICOT, Latina, Italy.
Objective: Since the habituation deficit of evoked potentials could be related to abnormal thalamocortical drive, we searched for a modulatory effect of ketogenic diet (KD) on somatosensory-evoked thalamo-cortical activity. KD is effective in preventing migraine. Previous studies showed that KD normalises habituation of somatosensory and visual cortical evoked responses in parallel with a decrease in of migraine attack frequency.
View Article and Find Full Text PDFA Feasibility Trial on Intranasal Evaporative Cooling for Acute Migraine in an At-Home Setting.
Cureus
November 2024
Department of Clinical Sciences, Lund University, Malmö, SWE.
Article Synopsis
- - The study aimed to assess the feasibility of self-administering intranasal evaporative cooling for acute migraine relief at home, following previous success in a clinic setting.
- - Conducted in southern Sweden, the trial involved 15 participants with episodic migraine, but only 6 completed the study due to discomfort and ineffective results.
- - Findings indicated that the treatment was largely considered unpleasant and not significantly more effective than existing care methods, leading to the conclusion that it is not a viable option for home use.
Visual allesthesia as manifestation of migraine aura.
Pract Neurol
December 2024
Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Brazil.
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