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Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Orphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Background: In amyotrophic lateral sclerosis and behavioral-variant frontotemporal degeneration, the presence of secondary cognitive-behavioral or motor symptoms, respectively, is associated with shorter survival. However, factors influencing the risk of secondary symptom development remain largely unexplored and time-to-event characterization for developing secondary symptoms is important for prognostic clinical decision-making.
Method: We performed a retrospective evaluation of the entire disease course of individuals in the Penn Integrated Neurodegenerative Disease Database with a primary clinical phenotype of amyotrophic lateral sclerosis (n = 173) or behavioral-variant frontotemporal degeneration (n = 69).
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Memory & Aging Center, Department of Neurology, University of California in San Francisco, San Francisco, CA, USA.
Background: Frontotemporal lobar degeneration (FTLD)- TAR DNA-binding protein 43 (TDP) type C is commonly associated with a clinical diagnosis of semantic dementia (SD). Although anterior temporal lobe (ATL) is one of the primary atrophy centers, it is yet to be defined which other areas are involved in the TDP-type C pathology early in the disease course.
Methods: We included 16 patients with autopsy-confirmed FTLD-TDP type C from the database of the UCSF Memory and Aging Center: 13 patients with semantic variant primary progressive aphasia (svPPA) and predominant left ATL atrophy, and 3 patients with semantic behavioral variant frontotemporal dementia (sbvFTD) and predominant right ATL atrophy.
Genetic and Phenotypic Intra-Clade Variation in Candida auris Isolated from Critically Ill Patients in a New York City Tertiary Care Center.
Clin Chem
January 2025
Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, United States.
Background: Candida auris is an emerging multidrug-resistant pathogen. Interpretation of susceptibility testing can be difficult since minimum inhibitory concentration (MIC) breakpoints have not been fully established.
Methods: All C.
Microenhancement as a Biomarker for Cerebral Microbleed in Inflammatory Cerebral Amyloid Angiopathy: Insights From 3D T1 Black-Blood MR Imaging.
Neurology
January 2025
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX; and.
Objectives: Cerebral microbleeds (cMBs) are common imaging findings in conditions related to cerebral amyloid angiopathy (CAA). Blood-brain barrier (BBB) leakage is considered pivotal in their pathogenesis. This study investigates the potential role of cerebral microenhancement (cME) as an imaging biomarker on 3D T1 black-blood MRI (BB-MRI) for BBB rupture, predicting the formation of cMBs in inflammatory CAA variants.
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