Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11833711 | PMC |
| http://dx.doi.org/10.1016/j.jdcr.2024.10.031 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case Report: White-Sutton syndrome and cannabidiol, an update on a reported patient with a successful response to off--label therapy.
Front Pediatr
February 2025
Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
White-Sutton syndrome (WSS), associated with gene mutations, is a rare genetic disorder characterized by a spectrum of phenotypic features, including intellectual disabilities, developmental delays, and epilepsy. A case report described a female patient diagnosed with WSS who experienced seizures resistant to conventional antiseizure medications. Despite various therapeutic attempts, including valproate, topiramate, levetiracetam, clobazam, rufinamide, and vigabatrin, the patient's seizures persisted.
View Article and Find Full Text PDFIvabradine in treatment of symptomatic heart failure and supraventricular tachycardias in patients under six months of age.
Front Pharmacol
February 2025
Pharmacy Department, Vall d'Hebron University Hospital, Barcelona, Spain.
Background: Although heart failure (HF) and supraventricular tachycardias (SVT) are associated with high morbidity and mortality in pediatrics, especially, in children under 6 months; the efficacy of available treatments is limited, requiring the use of off-label therapies. The aim of the study is to investigate the efficacy, dosage, and safety of off-label ivabradine in patients under 6 months of age with HF or SVT.
Methods: Retrospective observational study, which included patients under 6 months of age with HF or SVT who received ivabradine between January 2020 - May 2024.
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
Front Pediatr
February 2025
Division of Neonatology, Saint-Luc University Hospital, UCLouvain, Brussels, Belgium.
Introduction: Rare pathogenic variants in the and genes are the main molecular causes of Noonan syndrome (NS). Most are dominant gain-of-function variants that cause an overactivation of the RAS/MAPK signaling pathway leading to uncontrolled cell proliferation in many organs and systems. Albeit phenotypically heterogeneous, NS can be associated with severe cardiovascular and lymphatic anomalies, potentially lethal during infancy, neonatal and fetal periods.
View Article and Find Full Text PDFNatural compounds in the management of polycystic ovary syndrome: a comprehensive review of hormonal regulation and therapeutic potential.
Front Nutr
February 2025
Department of Endocrine and Metabolic Disease, The Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, Jilin, China.
Polycystic ovary syndrome (PCOS) is a multifaceted endocrine disorder characterized by irregularities in gonadotropin secretion, hyperandrogenism, chronic anovulation, and polycystic ovarian morphology. In addition, it is often associated with metabolic dysfunctions, most notably insulin resistance (IR). This disorder affects approximately 6-20% of individuals, primarily emerging during early adolescence, and considerably increases the risk of conditions such as impaired glucose tolerance, type 2 diabetes, endometrial cancer, cardiovascular diseases, dyslipidemia, and postpartum complications.
View Article and Find Full Text PDFIntegrating MAPK pathway inhibition into standard-of-care therapy for pediatric low-grade glioma.
Front Oncol
February 2025
Division of Hematology, Oncology and Bone Marrow Transplant, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, United States.
Pediatric low-grade gliomas (pLGG) are a group of tumors largely driven by alterations in a single genetic pathway, known as the RAS-RAF-mitogen-activated protein kinase (MAPK) pathway. Recent biologic insights and therapeutic targeting of MAPK-alterations have dramatically shifted the treatment approach in pLGG. While chemotherapy remains front-line therapy for unresectable pLGG in most scenarios (with the notable exception of -altered tumors), many patients recur following cytotoxic agents and require further treatment.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!