Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.
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http://dx.doi.org/10.1016/j.jneuroim.2020.577192 | DOI Listing |
Curr Probl Cardiol
January 2025
Cardiology, RVM Institute of Medical Sciences and Research Center, Laxmakkapally, India.
Background: Diastolic wall strain (DWS), also referred to as right ventricular (RV) dysfunction, is a significant predictor of pulmonary embolism (PE) and heart failure (HF). Rooted in linear elastic theory, DWS reflects decreased wall thinning during diastole, indicating reduced left ventricular (LV) compliance and increased diastolic stiffness. Elevated diastolic stiffness is associated with worse outcomes, particularly in PE and HF with preserved ejection fraction (HFpEF).
View Article and Find Full Text PDFJ Mech Behav Biomed Mater
January 2025
Department of Chemistry, Materials and Chemical Engineering 'Giulio Natta', Politecnico di Milano, Italy.
Endovascular thrombectomy (EVT) aims at restoring blood flow in case of acute ischemic stroke by removing the thrombus occluding a large cerebral artery. During the procedure with stent-retriever, the thrombus is captured within the device, which is then retrieved, subjecting the thrombus to several forces, potentially leading to its fragmentation. In silico studies, along with mechanical characterisation of thrombi, can enhance our understanding of the EVT, helping the development of new devices and interventional strategies.
View Article and Find Full Text PDFComput Biol Chem
December 2024
Faculty of Biochemistry and Molecular Medicine, University of Oulu, PO Box 5400, Oulu 90014, Finland; Biocenter Oulu, University of Oulu, PO Box 5400, Oulu 90014, Finland. Electronic address:
Single-stranded breaks (SSBs) are the most frequent DNA lesions threatening genomic integrity-understanding how DNA sensor proteins recognize certain SSB types is crucial for studies of the DNA repair pathways. During repair of damaged DNA the final SSB that is to be ligated contains a 5'-phosphorylated end. The present work employed molecular simulation (MD) of DNA with a phosphorylated break in solution to address multiple questions regarding the dynamics of the break site.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Washington, Seattle, WA, USA.
Background: Leveraging non-invasive ultra-high field, 7 Tesla (7T) MRI, with increased signal-to-noise ratio and improved soft tissue contrast afforded by 7T allows us to accurately map tissue microstructure. We aim to use 7T MR Elastography (MRE), 7T Diffusion Tensor Imaging (DTI), 3T amyloid-PET, and Preclinical Alzheimer Cognitive Composite (PACC) score to determine the relationships between these metrics in a cohort of older individuals with either normal cognition (CN), mild cognitive impairment (MCI), or Alzheimer's Disease (AD).
Methods: 7T MRE, 7T DTI, 3T PET (Fig.
Alzheimers Dement
December 2024
University of Guadalajara, Guadalajara, JA, Mexico.
Background: The ways in which diverse genetic variants interact to affect the phenotype of AD is poorly understood. The relatively consistent phenotype associated with specific mutations causing autosomal dominant AD (ADAD) provides the opportunity to study how other genetic variants contribute to disease manifestations.
Method: We performed an in-depth case study of a patient with the A431E PSEN1 mutation who had onset of progressive spastic paraplegia at age 20.
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