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GABA/Glutamate Neuron Differentiation Imbalance and Increased AKT/mTOR Signaling in CNTNAP2 Cerebral Organoids.
Biol Psychiatry Glob Open Sci
January 2025
Biomedical Research Institute, Foundation for Research and Technology-Hellas, University Campus, Ioannina, Greece.
Background: The polygenic nature of autism spectrum disorder (ASD) requires the identification of converging genetic pathways during early development to elucidate its complexity and varied manifestations.
Methods: We developed a human cerebral organoid model from induced pluripotent stem cells with targeted genome editing to abolish protein expression of the ASD risk gene.
Results: CNTNAP2 cerebral organoids displayed accelerated cell cycle, ventricular zone disorganization, and increased cortical folding.
CASPR2-related epilepsy: A distinctive and unrecognized form of epilepsy in adult and elderly males.
Epileptic Disord
December 2024
IRCCS Ospedale Policlinico San Martino, Division of Clinical Neurophysiology and Epilepsy Center, Genoa, Italy.
Objective: The aim of this study was to describe the clinical features of contactin-associated protein-like 2 (CASPR2)-IgG-associated seizures.
Methods: Nine patients were retrospectively collected from two epilepsy centers. For each patient we obtained a full clinical, neurophysiological, and MRI study along with detection of antineuronal autoantibodies from serum and CSF.
Case report: Recurring potassium channel complex autoimmunity-related neuropathic pain.
Front Immunol
November 2024
Department of Anesthesia and Perioperative Medicine, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.
Voltage-gated potassium channel (VGKC) complex autoimmunity associated with nerve hyperexcitability is an uncommon clinical spectrum. It is mostly characterized by limbic encephalitis, continuous neuromyotonia, and dysautonomia. Pain, however, has rarely been reported as the first symptom.
View Article and Find Full Text PDFGenome-wide association studies for milk production traits and persistency of first calving Holstein cattle in Türkiye.
Front Vet Sci
October 2024
Department of Animal Science, Faculty of Veterinary, Afyon Kocatepe University, Afyonkarahisar, Türkiye.
Article Synopsis
- The study investigates the genetic factors influencing milk production traits in 374 Holstein heifers using a genome-wide association study (GWAS) approach.
- It finds moderate to high heritability estimates (0.32-0.54) for traits like 100-day and 305-day milk yield, suggesting that targeted genetic improvements are possible.
- The analysis identifies key single nucleotide polymorphisms (SNPs) linked to milk yield and highlights several important genes, which could help inform breeding strategies for better milk production in Holstein cattle.
A case series: Three cases of Morvan's syndrome as a rare autoimmune disorder with anti-Caspr2 antibody.
Medicine (Baltimore)
October 2024
Clinical Department of Traditional Chinese Medicine, Hubei University of Chinese Medicine, Wuhan, China.
Article Synopsis
- Morvan syndrome is a rare autoimmune disorder primarily affecting males, characterized by symptoms like muscle twitching, autonomic disturbances, and severe sleep issues, often linked to specific autoantibodies.
- Current treatments include various immunotherapies, but no long-term cure exists, prompting interest in alternative therapies like traditional Chinese medicine.
- Three patients with serum Caspr2-positive Morvan syndrome showed some relief from traditional treatments but experienced disease recurrence, indicating the complexity and unpredictability of the condition.
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