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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Nat Rev Nephrol
January 2025
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, endo ERN and ERN BOND, Paris, France.
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
View Article and Find Full Text PDFUse and Costs of Supplemental Benefits in Medicare Advantage, 2017-2021.
JAMA Netw Open
January 2025
Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital, Boston, Massachusetts.
Importance: Nearly all Medicare Advantage (MA) plans offer dental, vision, and hearing benefits not covered by traditional Medicare (TM). However, little is known about MA enrollees' use of those benefits or how much they cost MA insurers or enrollees.
Objective: To estimate use, out-of-pocket (OOP) spending, and insurer payments for dental, hearing, and vision services among Medicare beneficiaries.
Do national cancer control plans address care and research for children, adolescents, and young adults? A review of status, priorities, and recommendations across 41 European countries.
Lancet Reg Health Eur
February 2025
European Society for Paediatric Oncology (SIOPE), Clos Chapelle-aux-Champs 30, 1200, Brussels, Belgium.
Paediatric cancers, although rare, are the leading cause of disease-related mortality in European children above one year. A key pillar of the European Health Union, Europe's Beating Cancer Plan (EBCP) puts a spotlight on childhood cancer. National Cancer Control Plans (NCCPs) have a key role but did not address childhood cancers sufficiently previously.
View Article and Find Full Text PDFSingle Teeth and Partial Implant Rehabilitations Using Ultra-Hydrophilic Multi-Zone Anodized Surface Implants: A Retrospective Study with 1-Year Follow-Up.
J Clin Med
December 2024
Oral Surgery Department, MALO CLINIC, Avenida dos Combatentes, 43, Level 9, 1600-042 Lisboa, Portugal.
: In the last decades, dental implant surfaces have been evolving to increase success and implant survival rates. More studies evaluating outcomes with implants with ultra-hydrophilic multi-zone anodized surfaces are necessary. The aim of this study is to evaluate the short-term outcome of implants of conical connection with anodized ultra-hydrophilic surfaces for support of single teeth and partial rehabilitations.
View Article and Find Full Text PDFPhase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.
Cell Rep Med
December 2024
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan. Electronic address:
Duchenne muscular dystrophy (DMD) is a severe muscle disorder caused by mutations in the DMD gene, leading to dystrophin deficiency. Antisense oligonucleotide (ASO)-mediated exon skipping offers potential by partially restoring dystrophin, though current therapies remain mutation specific with limited efficacy. To overcome those limitations, we developed brogidirsen, a dual-targeting ASO composed of two directly connected 12-mer sequences targeting exon 44 using phosphorodiamidate morpholino oligomers.
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