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Presumed acquired neuromyotonia of unknown cause in a cat with hyperthyroidism.
JFMS Open Rep
December 2024
IVC Evidensia Small Animal Referral Hospital Hart van Brabant, Waalwijk, The Netherlands.
Case Summary: A 16-year-old spayed female domestic shorthair cat with methimazole-treated hyperthyroidism presented with a chronic progressive history of a stiff gait progressing to recumbency. A neurological examination revealed continuous excessive muscle tone with myokymia, which exacerbated with exercise and persisted during general anaesthesia. An electromyographic study revealed myokymic discharges in all tested muscles, as well as complex repetitive discharges, fibrillation potentials and positive sharp waves.
View Article and Find Full Text PDFGenome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Nat Genet
December 2024
Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
Article Synopsis
- * By analyzing data from the Million Veteran Program and other cohorts, the study identifies 63 genetic loci linked to AMD, including 30 that were previously unknown, highlighting significant differences in risk among various ancestries.
- * The findings reveal that certain genetic risk factors, like those found in the CFH locus, have varying effects based on ancestry, suggesting that targeted therapies could be developed by considering these genetic differences.
Muscle ultrasound as a key in assisting the diagnosis of neuromyotonia.
Neuromuscul Disord
November 2024
Consultant Neurosurgeon, Department of Neurosurgery, Devanika Hospital, Ranchi, India.
Neuromyotonia or Isaacs syndrome is a rare neuromuscular disorder secondary to hyperexcitable peripheral nerves which fire continuously causing motor unit activation and manifests clinically as cramps, muscle twitches, or visible muscle contraction associated with impaired muscle relaxation. Clinical suspicion and subsequent diagnostic work-up, including electrophysiology, aid in the diagnosis. However, when contractions are not appreciated clinically, there is a high possibility of misdiagnosis.
View Article and Find Full Text PDFSmall Complex Rearrangement in -Related Axonal Neuropathy.
Genes (Basel)
November 2024
Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.
Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.
Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.
A Case of Posterior Reversible Encephalopathy Syndrome Associated With Pembrolizumab and Cetuximab Combination Therapy.
Cureus
October 2024
Internal Medicine, University of California Los Angeles Santa Monica Medical Center, Santa Monica, USA.
Posterior reversible encephalopathy syndrome (PRES) is a neurologic condition with a constellation of symptoms, including altered mentation, headaches, and often seizures. Immunosuppressive therapies and, more recently, immunotherapy have been identified as risk factors for PRES. We describe the first documented case of PRES associated with a combination of pembrolizumab and cetuximab therapy.
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