Limitation of supination and pronation of the forearm has been occasionally described in individuals with Williams syndrome. It was found in 26% of 23 subjects examined, and was associated with a spectrum of severity of radio-ulnar synostosis on radiography. The occurrence of this functional motor impairment in a substantial subset of persons with Williams syndrome is relevant, because its evaluation is important in habilitation planning.
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http://dx.doi.org/10.1007/BF02011725 | DOI Listing |
Alzheimers Dement
December 2024
University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI, USA.
Background: Exposures to environmental toxicants and pollutants occur at various points along the life course, with mounting evidence that late-life pollution exposure increases risk for neurological disease, including dementia. Although occupational hazards constitute a primary source of modifiable environmental exposure during the working years, there is little research examining the protracted effects of mid-life occupational exposure on late-life dementia risk.
Method: This study leveraged life course data from the Wisconsin Longitudinal Study (WLS) to evaluate the effects of mid-life occupational hazardous exposures on late-life dementia outcomes.
Dig Dis Sci
January 2025
School of Nursing, University of Washington, Seattle, WA, USA.
Background: Whether pathophysiological factors differ between males and females with irritable bowel syndrome-diarrhea (IBS-D) remains to be tested. To better understand potential sex differences, males with IBS-D were compared to naturally cycling females and to females with IBS-D taking hormonal contraception on plasma levels of cytokines and gut microbiome characteristics.
Methods: Males and females with Rome III IBS-D completed questionnaires and kept a daily symptom diary for 28 days.
Carbohydr Polym
March 2025
College of Biological Science and Medical Engineering, Shanghai Engineering Research Center of Nano-Biomaterials and Regenerative Medicine, Donghua University, Shanghai 201620, PR China. Electronic address:
In this work we present a near-infrared (NIR)-operated nanoswitch based on chitosan nanoparticles (EpCAM-CS-co-PNVCL@IR780/IMQ NPs) that induces cascade immunogenic tumor ferroptosis via cytokine storm. The formulation was prepared by loading a photosensitiser (IR780) and an immunotherapeutic drug (imiquimod; IMQ) into temperature- and pH-responsive chitosan-based NPs functionalized with tumor-targeting aptamers. The EpCAM aptamer can chaperone the NPs selectively into cancer cells, and allow them to enter the cell nucleus.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFPathogens
November 2024
Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, DC 20010, USA.
Lyme disease is the most common vector-borne disease in the United States. Recent environmental and socioecological changes have led to an increased incidence of Lyme and other tick-borne diseases, which enhances the urgency of identifying and mitigating adverse outcomes of Lyme disease exposure. Lyme disease during pregnancy, especially when untreated, may lead to adverse pregnancy and neonatal outcomes; however, long-term child outcomes following utero exposure to Lyme disease have not yet been systematically assessed.
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