Paroxysmal kinesigenic dyskinesia (PKD) is associated with a disturbance of neural circuit and network activities, while its neurophysiological characteristics have not been fully elucidated. This study utilized the high-density electroencephalogram (hd-EEG) signals to detect abnormal brain activity of PKD and provide a neural biomarker for its clinical diagnosis and PKD progression monitoring. The resting hd-EEGs are recorded from two independent datasets and then source-localized for measuring the oscillatory activities and function connectivity (FC) patterns of cortical and subcortical regions. The abnormal elevation of theta oscillation in wildly brain regions represents the most remarkable physiological feature for PKD and these changes returned to healthy control level in remission patients. Another remarkable feature of PKD is the decreased high-gamma FCs in non-remission patients. Subtype analyses report that increased theta oscillations may be related to the emotional factors of PKD, while the decreased high-gamma FCs are related to the motor symptoms. Finally, the authors established connectome-based predictive modelling and successfully identified the remission state in PKD patients in dataset 1 and dataset 2. The findings establish a clinically relevant electroencephalography profile of PKD and indicate that hd-EEG can provide robust neural biomarkers to evaluate the prognosis of PKD.
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http://dx.doi.org/10.1002/advs.202306321 | DOI Listing |
Redox Biol
December 2024
Division of Genetics and Cell Biology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, 20132, Milan, Italy; Università Vita-Salute San Raffaele, 20132, Milan, Italy. Electronic address:
Aquaporin11 (AQP11) is an endoplasmic reticulum (ER) resident peroxiporin. It allows HO transport from the lumen to the cytosol, guaranteeing redox homeostasis and signaling in and between the two organelles. Interestingly, Aqp11 mice develop a fatal, early onset polycystic kidney disease (PKD) similar to Autosomal Dominant PKD, a condition frequently associated with mutations of polycystin-1 (PC-1) in human patients.
View Article and Find Full Text PDFEClinicalMedicine
August 2024
Department of Psychosomatic Medicine and Psychotherapy, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Background: Despite the immense impact of Long COVID on public health and those affected, its aetiology remains poorly understood. Findings suggest that psychological factors such as depression contribute to symptom persistence alongside pathophysiological mechanisms, but knowledge of their relative importance is limited. This study aimed to synthesise the current evidence on psychological factors potentially associated with Long COVID and condition-relevant outcomes like quality of life.
View Article and Find Full Text PDFJ Feline Med Surg
January 2025
Department of Clinical Science, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Objectives: Cardiovascular complications are well known in humans with autosomal dominant polycystic kidney disease (PKD), but limited data exist for cats. This study aimed to assess echocardiographic changes, cardiac troponin I (cTnI) levels and systolic blood pressure (SBP) in Persian cats with PKD to detect early cardiac abnormalities.
Methods: In total, 52 Persian and mixed-Persian cats were enrolled, with 26 cats in the control group and 26 diagnosed with PKD via ultrasound due to the unavailability of genetic testing.
J Am Soc Nephrol
January 2025
Department of Pharmacology, Tianjin Key Laboratory of Inflammatory Biology, Center for Cardiovascular Diseases, Haihe Laboratory of Cell Ecosystem, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Experimental Hematology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Background: Notch signaling, a conserved mechanism of cell-to-cell communication, plays a crucial role in regulating cellular processes such as proliferation and differentiation in a context-dependent manner. However, the specific contribution of Notch signaling to the progression of polycystic kidney disease (PKD) remains unclear.
Methods: We investigated the changes in Notch signaling activity (Notch1-4) in the kidneys of autosomal dominant PKD (ADPKD) patients and two ADPKD mouse models (early and late onset).
NAR Mol Med
October 2024
Department of Biology, Tufts University, 200 Boston Ave., Medford, MA 02155, USA.
H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure to discovering its existence and role . H-DNA interacts with cellular machinery in unique ways, stalling DNA and RNA polymerases and causing genome instability.
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