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Alzheimers Dement
December 2024
University of Missouri, Columbia, MO, USA.
Background: Preclinical animal models are essential for the development of effective treatments. For instance, the 5xFAD mouse model successfully represents the pathophysiology of Alzheimer's disease (AD). Expression of humanized APP (K670N/M671L - Swedish, I716V - Florida, V717I - London) and PSEN1 (M146L and L286V), found in early onset AD patients, induces the production of amyloid-β 42 (Aβ42) and amyloid deposition, gliosis, and progressive neuronal loss.
View Article and Find Full Text PDFClin Chem
January 2025
Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.
Background: Newborn screening is a public health system designed to identify infants at risk for conditions early in life to facilitate timely intervention and treatment to prevent or mitigate adverse health outcomes. Newborn screening programs use tandem mass spectrometry as a platform to detect several treatable inborn errors of metabolism, and the T-cell receptor excision circle assay to detect some inborn errors of the immune system. Recent advancements in DNA sequencing have decreased the cost of sequencing and allow us to consider DNA sequencing as an additional platform to complement other newborn screening methods.
View Article and Find Full Text PDFJ Clin Invest
January 2025
Approximately 1 in 200 newborns worldwide are affected by congenital cytomegalovirus (CMV). Most of these cases are asymptomatic due to successful control of the infection by the newborn's immune system. In this issue of the JCI, Semmes et al.
View Article and Find Full Text PDFJ Otol
July 2024
Department of Otolaryngology-Head & Neck Surgery, The Sixth Medical Center of PLA General Hospital, Beijing, China.
Cochlear implantation (CI) is currently recognized as the most effective treatment for severe to profound sensorineural deafness and is considered one of the most successful neural prostheses. Since its inception in 1961, cochlear implantation has expanded its range of applications to encompass younger newborns, older people, and individuals with unilateral hearing loss. In addition, it has improved its surgical methods to minimize the occurrence of complications.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Cardiac Surgery, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.
Heart transplantation remains the ultimate treatment strategy for neonates and children with medically refractory end-stage heart failure and utilization of donors after circulatory death (DCD) can expand th donor pool. We have previously shown that mitochondrial transplantation preserves myocardial function and viability in neonatal swine DCD hearts to levels similar to that observed in donation after brain death (DBD). Herein, we sought to investigate the transcriptomic and proteomic pathways implicated in these phenotypic changes using ex situ perfused swine hearts.
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