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Agrammatism is one of the core clinical features of non-fluent/agrammatic variant primary progressive aphasia, and it has traditionally been considered the hallmark of non-fluent aphasia in Western countries. However, agrammatic speech may remain undetected in Japanese patients because of the agglutinative structure of the language and high flexibility in word order. In the present study, we aimed to analyze agrammatism in the speech production of Japanese patients with aphasia due to neurodegenerative disease using an anagram test generated by our laboratory. Four patients were recruited from the dementia clinic at Tohoku University Hospital between December 2014 and August 2015: two patients with non-fluent/agrammatic variant primary progressive aphasia, one with semantic variant primary progressive aphasia, and one with probable Alzheimer's disease experiencing episodic memory impairment accompanied by transcortical sensory aphasia. All patients underwent thorough neurological and neuropsychological testing before performing a Japanese anagram task based on the Northwestern Anagram Test. Our findings indicated that the two patients with non-fluent/agrammatic variant primary progressive aphasia exhibited poorer performance on the anagram task than the remaining two patients. Therefore, the anagram test used in the present study may aid in detecting output aspects of agrammatism in Japanese patients with aphasia, although future studies are required to develop a standardized version of test.
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http://dx.doi.org/10.1111/psyg.12311 | DOI Listing |
Genome Biol
September 2025
Center for Genomic Medicine, Cardiovascular Research Center, , Massachusetts General Hospital Simches Research Center, 185 Cambridge Street, CPZN 5.238,, Boston, MA, 02114, USA.
Background: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.
View Article and Find Full Text PDFAm J Hum Genet
September 2025
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address:
Multiplex assays of variant effect (MAVEs) provide promising new sources of functional evidence, potentially empowering improved classification of germline genomic variants, particularly rare missense variants, which are commonly assigned as variants of uncertain significance (VUSs). However, paradoxically, quantification of clinically applicable evidence strengths for MAVEs requires construction of "truthsets" comprising missense variants already robustly classified as pathogenic and benign. In this study, we demonstrate how benign truthset size is the primary driver of applicable functional evidence toward pathogenicity (PS3).
View Article and Find Full Text PDFPediatr Infect Dis J
September 2025
From the School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland, Australia.
Background: Obesity was a risk factor for severe COVID-19 in children during early outbreaks of ancestral SARS-CoV-2 and the Delta variant. However, the relationship between obesity and COVID-19 severity during the Omicron wave remains unclear.
Methods: This multicenter, observational study included polymerase chain r eaction-confirmed SARS-CoV-2-infected children and adolescents from Australia, Brazil, Italy, Portugal, Switzerland, Thailand, the United Kingdom and the United States hospitalized between January 1, 2020, and March 31, 2022.
Avian Pathol
September 2025
Department of Animal Medicine, Production and Health (MAPS), University of Padua, Legnaro (PD), Italy.
Infectious bursal disease virus (IBDV) is a highly contagious, economically relevant immunosuppressive pathogen of chickens. Despite belonging to a single serotype, virulent IBDVs display a remarkable heterogeneity in genetic and functional features. Traditionally, strains are categorized into classical, variant and very virulent viruses, but many atypical IBDVs have been recently identified.
View Article and Find Full Text PDFCancer Med
September 2025
Pädiatrie 5 (Onkologie, Hämatologie, Immunologie), Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Klinikum Stuttgart - Olgahospital, Stuttgart, Germany.
Purpose: Teleangiectatic osteosarcoma is a histologic subtype of osteosarcoma that can mimic aneurysmal bone cysts and has so far been incompletely characterized.
Patients And Methods: We used the database of the Cooperative Osteosarcoma Study Group COSS (patient-registration 1980-2019) to better understand this rare histologic variant.
Results: 223 eligible patients were identified, 164 having reference pathology (median age 15.