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| http://dx.doi.org/10.1002/mdc3.12195 | DOI Listing |
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Clinical and genetic spectrum of patients with IRF2BPL syndrome.
J Hum Genet
January 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
View Article and Find Full Text PDFThe effect of midazolam co-induction on cardiorespiratory variables, myoclonus and etomidate dose requirements in healthy cats.
Vet Anaesth Analg
December 2024
Department of Veterinary Clinical Medicine, College of Veterinary Medicine, University of Illinois, Urbana, IL, USA; Department of Animal Sciences, University of Illinois, Urbana, IL, USA; Division of Nutritional Sciences, University of Illinois, Urbana, IL, USA.
Objective: To evaluate dose requirements of etomidate for endotracheal intubation, with or without midazolam co-induction, and to describe induction quality and associated cardiorespiratory variables in healthy cats.
Study Design: Randomized prospective experimental study.
Animals: A group of 24 adult neutered cats (17 females, seven males).
Worsening spasticity due to catheter breakage during intrathecal baclofen therapy: a case report.
J Med Case Rep
January 2025
Department of Orthopedic Surgery, Graduate School of Medicine, Kanazawa University, 13-1 Takara-machi, Kanazawa City, Ishikawa, 920-8641, Japan.
Background: Intrathecal baclofen therapy can substantially improve symptoms in patients with severe spasticity owing to traumatic spinal cord injury, multiple sclerosis, cerebral paresis, or tethered cord syndrome. Problems associated with intrathecal catheters include migration, laceration, occlusion, or disconnection. Several case reports have described the management of catheter fragments.
View Article and Find Full Text PDFEfficacy of apheresis in antibody-negative progressive encephalomyelitis with rigidity and myoclonus.
Ther Apher Dial
January 2025
Department of Neurology, Wakayama Medical University, Wakayama, Japan.
Introduction: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is characterized by brainstem symptoms, muscle rigidity, and myoclonus. While autoantibodies to inhibitory neurons have been associated with the pathology, about 30% of cases are negative for autoantibodies. There are few reported cases of antibody-negative PERM and its clinical course and prognosis are unknown.
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