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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFDifferent keratoconus definitions can lead to substantial prevalence disparities in population-based studies.
Sci Rep
January 2025
Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
This report explores the prevalence of keratoconus in a population-based cohort of adults aged 40 or older according to ten different definitions. All Rotterdam Study participants with reliable Pentacam scans and no prior corneal refractive surgery were cross-sectionally analysed (n = 2660). First, we applied a novel evidence-based definition.
View Article and Find Full Text PDFPredefined-time adaptive neural network decentralized control for large-scale interconnected systems with input hysteresis.
ISA Trans
January 2025
School of Information Science and Technology, Beijing University of Technology, Beijing 100124, China. Electronic address:
This study endeavors to develop a predefined-time adaptive neural network decentralized controller for large-scale interconnected nonlinear systems with input hysteresis. Within the framework of the backstepping technique, the proposed control scheme guarantees that the tracking error converges to a small bounded set within a predefined settling time. The upper limit of this convergence time is determined by a single adjustable control parameter.
View Article and Find Full Text PDFAssociation between epigenome-wide DNA methylation changes and early neurodevelopment in preschool children: Evidence from a former impoverished county in Central China.
Gene
January 2025
Department of Maternal and Child Health School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan China; Key Laboratory of Environment and Health, Ministry of Education and Ministry of Environmental Protection, State Key Laboratory of Environmental Health (Incubating), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, 13 Hangkong Road, Wuhan, Hubei 430030, China. Electronic address:
Background: Existing epigenome-wide association study (EWAS) investigating the association between DNA methylation (DNAm) and child neurodevelopment have been predominantly conducted within Western populations, and yielded inconsistent results, leading to a significant gap within non-Western setting, particularly in resource-limited rural areas of Central China.
Objectives: To investigate the association between altered epigenome-wide DNAm and neurodevelopment in preschool children from resource-limited rural areas of Central China.
Methods: This case-control study involved 64 preschoolers.
Novel Insights In presence of cardiotocographic features suspected for hypoxic insult, intrapartum ultrasound in the hands of experienced operators can demonstrate cerebral edema as an indirect sign of fetal hypoxia affecting the fetal CNS and exclude non-hypoxic conditions potentially leading to abnormalities of the fetal heart rate. Introduction Hypoxic-ischemic encephalopathy is a syndrome involving the fetal central nervous system as the result of a perinatal hypoxic-ischemic injury. To date, transfontanellar ultrasound represents the first line exam in neonates with clinical suspicion of HIE as it allows to show features indicating acute hypoxic injury and exclude potential non-hypoxic determinants of HIE, however there is no report concerning the sonographic assessment of the brain during labor.
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