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Front Endocrinol (Lausanne)
December 2024
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.
Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C > T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years.
View Article and Find Full Text PDFClin Neurol Neurosurg
December 2024
Department of Neurology, Yongchuan Hospital of Chongqing Medical University, 439# Xuanhua Road, Yongchuan, Chongqing 402160, China; Chongqing Key Laboratory of Cerebrovascular Disease Research, 439# Xuanhua Road, Yongchuan, Chongqing 402160, China. Electronic address:
Objective: This study compared ocular and cervical vestibular evoked myogenic potentials (oVEMP and cVEMP) among individuals with Parkinson's disease (PD) without dizziness, with nonspecific dizziness (dizziness without orthostatic hypotension), or with dizziness combined with orthostatic hypotension.
Materials And Methods: We prospectively analyzed 30 of each of the three types of individuals who were admitted to Yongchuan Hospital of Chongqing Medical University (Chongqing, China) between June 2022 and April 2023. The three groups received oVEMP and cVEMP measurements using an electromyography-evoked potential system.
Introduction: Chronic ocular hypotony (low intraocular pressure (IOP)) is a potentially sight-threatening condition. Although there is some controversy as to what constitutes non-physiological IOP, generally it is accepted as an IOP of 6.5 mm Hg or less, measured on three separate occasions and lasting for at least 3 months.
View Article and Find Full Text PDFClin Toxicol (Phila)
January 2025
Pharmacy Department, Austin Health, Heidelberg, Australia.
J Clin Neurol
November 2024
Dizziness Center, Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seongnam, Korea.
Background And Purpose: We delineated the association between otolithic dysfunction and blood pressure (BP) variability.
Methods: We prospectively recruited 145 consecutive patients (age=71 [59-79] years, median [interquartile range]; 76 females) with orthostatic intolerance between December 2021 and December 2023 at a tertiary hospital in South Korea. Each patient underwent evaluations of cervical and ocular vestibular-evoked myogenic potentials (oVEMPs), 24-h noninvasive ambulatory BP monitoring (ABPM), and a head-up tilt-table test using the Finometer device.
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