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Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Eur J Hum Genet
December 2024
Department of Genomic Medicine for Rare Diseases, French Reference Center for Constitutional Bone Diseases, Necker-Enfants Malades Hospital, Paris, France.
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1 and COL1A2 account for approximately 85-90% of OI cases, there are now more than twenty genes described, responsible for rare forms of OI. Treatment is based on the use of bisphosphonates and though it is well established that they increase lumbar spine (LS) bone mineral density (BMD), the clinical impact on fracture reduction is still debated.
View Article and Find Full Text PDFEfficacy and Safety of Radiofrequency-Based Renal Denervation on Resistant Hypertensive Patients: A Systematic Review and Meta-analysis.
High Blood Press Cardiovasc Prev
July 2024
Heart Institute, Sao Paulo, 05403-900, Brazil.
Introduction: New therapies for resistant hypertension (RH), including renal denervation (RDN), have been studied.
Aim: Access the safety and effectiveness of radiofrequency-based RDN vs pharmacological treatment for RH.
Methods: A thorough literature search was conducted across PubMed, EMBASE, and the Cochrane databases, focusing on studies that compared the effects of radiofrequency-based RDN versus pharmacological treatment for RH.
Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva.
BMC Med Res Methodol
November 2023
Departments of Orthopedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, US.
Article Synopsis
- The background discusses the challenges of designing clinical trials for ultra-rare diseases like Fibrodysplasia ossificans progressiva (FOP) and highlights the role of palovarotene, a selective retinoic acid receptor gamma agonist, in this research.
- The methods outline three key studies: a natural history study (PVO-1A-001), a randomized phase II trial (PVO-1A-201), and its open-label extension (PVO-1A-202), detailing their designs, treatment regimens, and assessment of disease progression and flare-up outcomes.
- The results emphasized the recruitment of participants, with significant insights reported from the studies on the suitability of endpoints and the effectiveness of imaging
Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia.
Adv Ther
May 2023
Universitätskinderklinik Magdeburg, Otto von Guericke University, Magdeburg, Germany.
Introduction: Vosoritide is the first approved pharmacological treatment for achondroplasia and is indicated for at-home injectable administration by a trained caregiver. This research aimed to explore parents' and children's experience of initiating vosoritide and administering this treatment at home.
Methods: Qualitative telephone interviews were conducted with parents of children being treated with vosoritide in France and Germany.
Hydroxychloroquine significantly decreases the risk of preeclampsia in pregnant women with autoimmune disorders: a systematic review and meta-analysis.
Clin Rheumatol
May 2023
Department of Obstetrics and Gynecology, Peking University First Hospital, Peking University, Beijing, China.
This meta-analysis aimed to investigate whether hydroxychloroquine (HCQ) intervention could decrease the incidence of preeclampsia and other maternal and fetal outcomes among pregnant women with autoimmune disorders. PubMed, EMBASE, Web of Science, and the Cochrane databases were searched from inception until January 2022. Data on maternal or fetal outcomes of the control and hydroxychloroquine treatment groups were gathered and analyzed.
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