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Front Pediatr
August 2025
Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Cardiospondylocarpofacial syndrome (CSCFS) is an extremely rare autosomal dominant disorder resulting from variant in the gene, which encodes the transforming growth factor-β-activated kinase 1 (TAK1). Only 26 cases of CSCFS have been reported worldwide. The main manifestations are growth retardation, hypotonia, dysmorphic facial features, skeletal and limb abnormalities, cardiac septal defects with valve dysplasia, cardiomyopathy, and deafness with inner ear malformations.
View Article and Find Full Text PDFAutophagy
September 2025
Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, South Korea.
The neuromuscular junction (NMJ) is essential for transmitting neural stimulus to muscles, triggering muscle contraction. Mitochondria are enriched in NMJ to support the energy needs required for neuromuscular function and stability. Thus, maintaining mitochondrial homeostasis through the clearance of damaged mitochondria, a process known as mitophagy, is vital for preserving neuromuscular health.
View Article and Find Full Text PDFJ Am Chem Soc
August 2025
Hubei Research Center of Fundamental Science-Chemistry, College of Chemistry and Molecular Sciences, Wuhan University, Wuhan 430072, China.
The stereodivergent synthesis of structurally complex molecules bearing multiple stereochemical elements represents a pivotal challenge in modern synthetic chemistry, particularly for bioactive compounds, where stereochemical nuances dictate pharmacological profiles. While stereodivergent dual catalysis has advanced full access to stereoisomers with stereogenic centers, the integration of stereodefined alkenes into chiral molecules with both stereochemical and skeletal diversification remains elusive. In this study, we report stereo- and skeleton-divergent access to chiral fluorinated -heterocycles with comprehensive stereocontrol of [(,), (,), (,), (,)] and [(,), (,), (,), (,)] enabled by a bimetallic Cu/Ru relay catalytic system, featuring redox-neutral efficiency and atom/step economy.
View Article and Find Full Text PDFEur J Nucl Med Mol Imaging
August 2025
Department of Nuclear Medicine, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
Purpose: [F]-meta-fluorobenzylguanidine ([F]MFBG) PET/CT is a promising imaging modality for neural crest-derived tumors, particularly neuroblastoma. Accurate interpretation necessitates an understanding of normal biodistribution and variations in physiological uptake. This study aimed to systematically characterize the physiological distribution and variability of [F]MFBG uptake in pediatric patients to enhance clinical interpretation and differentiate normal from pathological uptake.
View Article and Find Full Text PDFCureus
July 2025
Department of Orthopaedics, CoRSU Rehabilitation Hospital, Kisubi, UGA.
Skeletal asymmetry is a major, unrecognized contributor to myofascial dysfunction and chronic pain in children and adolescents. myoActivation® is a novel medical intervention for the assessment of skeletal asymmetries and treatment of myofascial chronic pain. The therapeutic component of myoActivation involves a needling technique to release myofascial trigger points and scars.
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