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Biomarkers associated with progression of infantile hemangioma: Exploratory study.
J Dermatol
January 2025
Department of Dermatology, Wakayama Medical University, Wakayama, Japan.
To identify patients with infantile hemangioma (IH) in need of early-stage treatment in this multicenter, prospective, observational study, we investigated the potential of plasma cytokines as a clinically useful marker. Plasma samples were collected at three time points from 41 patients with infantile hemangioma: baseline (days 14-60 after delivery), visit 1 (days 61-150, the proliferative phase), and visit 2 (days 151-395, the involuting phase). With a twofold or more increase in tumor volume during the baseline-visit 1 period regarded as progression, progression was seen in 15 cases (36.
View Article and Find Full Text PDFSurgical management and outcomes of pure sacroiliac joint dislocations: A systematic review.
J Orthop
August 2025
University of Turin, Centro Traumatologico Ortopedico (CTO), Department of Orthopaedic Surgery, Turin, Italy.
Introduction: Sacroiliac joint (SIJ) dislocations, particularly pure SIJ dislocations without associated fractures, represent a rare and complex subset of pelvic ring injuries. Given the intricate pelvic anatomy and the need to achieve both stability and functional recovery, the optimal surgical management for these injuries remains a topic of debate. This systematic review aims to evaluate the various surgical techniques employed in treating this rare and challenging injury and assess associated clinical outcomes and complications.
View Article and Find Full Text PDFPulsatile dexamethasone in patients with Infantile Spasms: A retrospective analysis of a unique therapy regime.
Neuropediatrics
January 2025
Pediatric Neurology, Jena University Hospital, Jena, Germany.
Objective Infantile Spasms (IS) are an age-specific epilepsy syndrome associated with poor outcome. Sustained and early spasm-control remains the main goal of therapy. We aimed to evaluate a unique pulsatile dexamethasone therapy regime in children with IS, applying a prolonged first pulse in cases of insufficient spasm-control.
View Article and Find Full Text PDFHighlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In the infantile form, the weakness is often severe and leads to motor difficulties from the first few months of life.
View Article and Find Full Text PDFClinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
Ital J Pediatr
January 2025
Pediatrics Department, Genetics Unit, Mansoura University, Mansoura, Egypt.
Background: Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.
Methods: The aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations.
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