Recognition of a spoken word phonological variant--schwa vowel deletion (e.g., corporate --> corp'rate)--was investigated in vowel detection (absent/present) and syllable number judgment (two or three syllables) tasks. Variant frequency corpus analyses (Patterson, LoCasto, & Connine, 2003) were used to select words with either high or low schwa vowel deletion rates. Speech continua were created for each word in which schwa vowel length was manipulated (unambiguous schwa-present and schwa-absent endpoints, along with intermediate ambiguous tokens). Matched control nonwords were created with identical schwa vowel continua and surrounding segments. The low-deletion-rate words showed more three-syllable judgments than did the high-deletion-rate words. Matched control nonwords did not differ as a function of deletion rate. Experiments 2 and 3 showed a lexical decision reaction time advantage for more frequent surface forms, as compared with infrequent ones, for schwa-deleted (Experiment 2) and schwa-present (Experiment 3) stimuli. The results are discussed in terms of representations of variant forms of words based on variant frequency.
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http://dx.doi.org/10.3758/pp.70.3.403 | DOI Listing |
Wiad Lek
January 2025
EXPERT-ANALYTICAL MEDICAL CENTER FOR MOLECULAR GENETICS, SHUPYK NATIONAL HEALTHCARE UNIVERSITY OF UKRAINE, KYIV, UKRAINE.
Objective: Aim: To determine the influence of maternal and neonatal variants of the eNOS (G894T, rs1799983) and IL1B (C3953T, rs1143634) genes and their intergenic interactions on the development of HIE in newborns.
Patients And Methods: Materials and Methods: The study included a cohort of 105 newborns and their 99 mothers. Determination of variants of the genes eNOS (G894T, rs1799983) and IL1B (C3953T, rs1143634) was carried out for the patients of study groups.
JAMA Netw Open
January 2025
Coronavirus and Other Respiratory Viruses Division, National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia.
Importance: Multisystem inflammatory syndrome in children (MIS-C) is an uncommon but severe hyperinflammatory illness that occurs 2 to 6 weeks after SARS-CoV-2 infection. Presentation overlaps with other conditions, and risk factors for severity differ by patient. Characterizing patterns of MIS-C presentation can guide efforts to reduce misclassification, categorize phenotypes, and identify patients at risk for severe outcomes.
View Article and Find Full Text PDFmBio
January 2025
Department of Microbiology, UMass Chan Medical School, Worcester, Massachusetts, USA.
Unlabelled: (Mtb) exhibits an impressive ability to adapt to rapidly changing environments, despite its genome's apparent stability. Recently, phase variation through indel formation in homopolymeric tracts (HT) has emerged as a potentially important mechanism promoting adaptation in Mtb. This study examines the impact of common phase variants associated with the ESX-1 type VII secretion system, focusing on a highly variable HT upstream of the ESX-1 regulatory factor, .
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFGenet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
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