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Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis.
Genes Chromosomes Cancer
January 2025
Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Infantile myofibromatosis (IM) comprises a wide clinical spectrum, ranging from solitary or multicentric lesions to generalized life-threatening forms. IM is mostly linked to germline or somatic heterozygous mutations in the PDGFRβ tyrosine kinase, encoded by the PDGFRB gene. Treatments for IM range from wait and see approach to systemic chemotherapy, according to the clinical context.
View Article and Find Full Text PDFEvaluation of Five Ready-to-Use Bases for the Topical Administration of Propranolol Hydrochloride to Treat Infantile Hemangioma.
Pharmaceutics
January 2025
Department of Pharmacy-Pharmaceutical Sciences, University of Bari Aldo Moro, 70125 Bari, Italy.
: Since 2008, following clinical studies conducted on children that revealed the ability of the β-adrenergic antagonist propranolol to inhibit capillary growth in infantile hemangiomas (IHs), its oral administration has become the first-line treatment for IHs. Although oral propranolol therapy at a dosage of 3 mg/kg/die is effective, it can cause systemic adverse reactions. This therapy is not necessarily applicable to all patients.
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 PDFThe timing and safety of topical timolol treatment for superficial infantile hemangioma: a retrospective cohort study.
Eur J Pediatr
January 2025
Department of Pediatric Surgery, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Unlabelled: Numerous studies have shown that topical timolol is effective in treating infantile hemangioma (IH) with minimal adverse events. However, consensus is lacking on optimal timing, dosage, frequency, and safety parameters for this treatment. This study aims to explore the timing and safety of topical timolol treatment for superficial IH.
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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