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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 PDFNPT100-18A rescues mitochondrial oxidative stress and neuronal degeneration in human iPSC-based Parkinson's model.
BMC Neurosci
January 2025
Department of Operative Dentistry and Periodontology, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
Background: Parkinson's disease (PD) is a neurodegenerative disorder characterized by protein aggregates mostly consisting of misfolded alpha-synuclein (αSyn). Progressive degeneration of midbrain dopaminergic neurons (mDANs) and nigrostriatal projections results in severe motor symptoms. While the preferential loss of mDANs has not been fully understood yet, the cell type-specific vulnerability has been linked to a unique intracellular milieu, influenced by dopamine metabolism, high demand for mitochondrial activity, and increased level of oxidative stress (OS).
View Article and Find Full Text PDFWhole-body networks: a holistic approach for studying aging.
Geroscience
January 2025
Department of Surgery, Immanuel Clinic Rüdersdorf, University Clinic of Brandenburg Medical School, Berlin, Germany.
Aging is a multi-organ disease, yet the traditional approach has been to study each organ in isolation. Such organ-specific studies have provided invaluable information regarding its pathomechanisms. However, an overall picture of the whole-body network (WBN) during aging is still incomplete.
View Article and Find Full Text PDFRobotic Versus Open Placement of Hepatic Artery Infusion Pumps.
Ann Surg Oncol
January 2025
Hepatopancreatobiliary Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Background: A growing number of centers offer hepatic artery infusion pump (HAIP) chemotherapy for advanced liver malignancies. While small series have demonstrated feasibility of robotic HAIP placement, comparison of outcomes with open placement is lacking. We compared outcomes after robotic versus open HAIP placement.
View Article and Find Full Text PDFPediatric eosinophilic fasciitis: similarities and differences with adult forms.
Eur J Pediatr
January 2025
Department of Pediatrics, Grenoble-Alpes University Hospital, Grenoble, France.
The purpose of this study was to identify pediatric eosinophilic fasciitis, which is an extremely rare condition, in order to describe their clinical, paraclinical, and therapeutic characteristics. We made a call for observations via societies for pediatric rheumatology in France and surrounding countries and collected clinical and paraclinical data of the cases fulfilling the diagnostic criteria. Eight patients under 18 years of age with confirmed eosinophilic fasciitis followed between April 2004 and July 2022 in France, Germany, Italy, and Spain were included.
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