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Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
JIMD Rep
January 2025
United for Metabolic Diseases (UMD) The Netherlands.
Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.
View Article and Find Full Text PDFA Systematic Review on the Effectiveness and Safety of Combining Biostimulators with Botulinum Toxin, Dermal Fillers, and Energy-Based Devices.
Aesthetic Plast Surg
December 2024
Research and Innovation Hub, Innovation Aesthetics, London, WC2H 9JQ, UK.
Introduction: Aesthetic medicine has evolved towards minimally invasive procedures, with biostimulators like Poly-L-Lactic Acid (PLLA), Calcium Hydroxylapatite (CaHA), and Polycaprolactone (PCL) gaining attention for their role in collagen induction, improving skin texture, elasticity, and volume. Combining these agents with other treatments-such as botulinum toxin, dermal fillers, and energy-based devices (e.g.
View Article and Find Full Text PDFRuptured Sinus of Valsalva Aneurysm: Transcatheter Closure Through Retrograde Approach.
Catheter Cardiovasc Interv
December 2024
Department of Cardiology, A J Institute of Medical Sciences and Research Centre, Mangaluru, India.
The ruptured sinus of Valsalva aneurysm (RSOV), a rare but well-recognized clinical entity, is invariably a form of left-to-right shunt due to rupture into right-sided chambers. It causes profound hemodynamic effects, especially when the rupture is acute. Like most other left-to-right shunts, it was only a matter of time before this rare defect also became amenable to transcatheter closure (TCC).
View Article and Find Full Text PDFApplication of four pricing models for orphan medicines: a case study for lumasiran.
Orphanet J Rare Dis
December 2024
Medicine for Society, Platform at Amsterdam University Medical Center - University of Amsterdam, Amsterdam, The Netherlands.
Background: The combination of high prices and uncertain effectiveness is a growing challenge in the field of orphan medicines, hampering health technology assessments. Hence, new methods for establishing price benchmarks might be necessary to support reimbursement negotiations. In this study, we applied several pricing models containing cost-based elements to the case of lumasiran for treating primary hyperoxaluria type 1.
View Article and Find Full Text PDFHuman genetics and genomics as a unifying factor for harmony and progress in Africa: a report from the 12 African Society of Human Genetics meeting in Bamako, Mali.
Pan Afr Med J
December 2024
Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
Since its inception in 2003, the African Society of Human Genetics (AfSHG) has been central to the promotion of genetics research on the continent, and facilitated the networking of African researchers within Africa and abroad, thereby significantly contributing to the career development of African geneticists. The continuation of these accomplishments was stimulated by the 12 international conference of AfSHG held jointly with the 1 Congress of the Malian Society of Human Genetics (MSHG) in Bamako, Mali from September 18 to 21 2019. The main theme of the conference was "Human Genetics and Genomics as a Unifying Factor for Harmony and Progress in Africa".
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