Exploring the Perceived Self-management Needs of Young Adults With Osteogenesis Imperfecta

Conclusions Similar to other childhood-onset conditions, adolescents and young adults with OI require education and mentorship, and clinicians in the adult healthcare system need to be prepared and supported to receive them. Collective efforts are needed to improve the self-management and transitional care needs for young adults with OI.
Source: Clinical Nurse Specialist - Category: Nursing Tags: Feature Article Source Type: research

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Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
AbstractOsteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by repeated fractures and skeletal disorders. At present, bisphosphonate (BP) therapy is the gold standard for OI treatment. The present retrospective study evaluated the effect of BP therapy on tooth development and eruption of permanent teeth in a cohort of children receiving pamidronate. Three groups were studied: patients with OI who were treated with BPs (n = 45), patients with OI who were not treated with BPs (n = 117), and age- and gender-matched healthy controls (n = 121). Denta...
Source: Calcified Tissue International - Category: Orthopaedics Source Type: research
Publication date: August 2020Source: Biomedicine &Pharmacotherapy, Volume 128Author(s): Yi Liu, Mingyan Ju, Zihan Wang, Jiaci Li, Chenyi Shao, Ting Fu, Yaqing Jing, Yuxia Zhao, Zhe Lv, Guang Li
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
CONCLUSIONS: NELL1 and ADSCs exhibited synergistic effect on stimulating bone formation of OI mice, which might provide an alternative strategy in OI treatment. Compared with dose escalation or multiple administration of rmNELL1, lentivirus-mediated long term expression of NELL1 might be more feasible and convenient. However, further studies are needed to confirm the safety and optimize the therapeutic regime. PMID: 32454289 [PubMed - as supplied by publisher]
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - Category: Drugs & Pharmacology Authors: Tags: Biomed Pharmacother Source Type: research
Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In conclusion, our findings provided additional evidence of involvement of homozygous sequence variants in the SP7, SERPINF1, SPARC and WNT1 genes causing severe OI. It also highlights the importance of extensive genetic investigations to search for the culprit gene in each case of skeletal deformity. PMID: 32413570 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
ConclusionThis study identified a novel pathogenic variant ofIFITM5, which not only manifested the molecular characteristics ofIFITM5, but also provided new evidence for the study of the molecular mechanisms of IFITM5 association with OI.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
ABSTRACTSince a key function of Wnt1 in brain development was established early on through the generation of non ‐viableWnt1‐deficient mice, it was initially surprising thatWNT1 mutations were found to cause either early ‐onset osteoporosis (EOOP) or osteogenesis imperfecta type XV (OI‐XV). The deduced function of Wnt1 as an osteoanabolic factor has been confirmed in various mouse models with bone‐specific inactivation or over‐expression, but mice carrying disease‐causingWnt1 mutations have not yet been described. Triggered by the clinical analysis of EOOP patients carrying a heterozygousWNT1 mutation (p.R235...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
PMID: 32314604 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
AJP Rep 2020; 10: e139-e147 DOI: 10.1055/s-0040-1709512A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head. Serum alkaline phosphatase was very low on admission. Extensive metaphyseal abnormalities, bowing of long bones, and poor ossification of all bones were noted on skeletal survey (radiography). Based on ultrasound evidence of “bowing” and long bone fractures at 26 weeks, amniocentesis was performed that later diagnosed hypophosphatasia by genet...
Source: American Journal of Perinatology Reports - Category: Perinatology & Neonatology Authors: Tags: Case Report Source Type: research
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