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imperfecta osteogenesis

Magali Hernandez, Bérengère Phulpin, Ludovic Mansuy, Dominique Droz
New targeted cancer therapies such as bisphosphonates, denosumab and bevacizumab are routinely used in adult for the past decades. Their introduction into pediatric medicine is more recent that means there is a paucity of data on long-term effects on dental development and on the risk of osteonecrosis of jaw. This paper aims to outline adverse effects of new targeted cancer therapies on oral cavity including dental abnormalities observed in pediatric population treated with these molecules and the risk of osteonecrosis of the jaw (ONJ)...
October 25, 2016: Journal of Oral Pathology & Medicine
Darwin J Prockop
From the outset, it was apparent that developing new therapies with mesenchymal stem/stromal cells (MSCs) was not a simple or easy task. Among the earliest experiments was administration of MSCs from normal mice to transgenic mice that developed brittle bones because they expressed a mutated gene for type 1 collagen isolated from a patient with osteogenesis imperfecta. The results prompted a clinical trial of MSCs in patients with severe osteogenesis imperfecta. Subsequent work by large numbers of scientists and clinicians has established that, with minor exceptions, MSCs do not engraft or differentiate to a large extent in vivo...
October 18, 2016: Cytotherapy
Xiao-Jie Xu, Fang Lv, Yi Liu, Jian-Yi Wang, Dou-Dou Ma, Asan, Jia-Wei Wang, Li-Jie Song, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by decreased bone mass and increased fracture risk. The majority of OI cases have an autosomal dominant pattern of inheritance and are usually caused by mutations in genes encoding type I collagen. OI cases of autosomal recessive inheritance are rare, and OI type XI is attributable to mutation of the FKBP10 gene. Here, we used next-generation sequencing and Sanger sequencing to detect mutations in FKBP10 and to analyze their relation to the phenotypes of OI type XI in three Chinese patients...
August 25, 2016: Journal of Human Genetics
Anja Lisbeth Frederiksen, Morten Duno, Iben B G Johnsen, Morten Frost Nielsen, Anne Bruun Krøigård
Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.
October 2016: Clinical Case Reports
Kerry Dwan, Carrie A Phillipi, Robert D Steiner, Donald Basel
BACKGROUND: Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix which typically results in multiple fractures with little or no trauma. Bisphosphonates are used in an attempt to increase bone mineral density and reduce these fractures in people with osteogenesis imperfecta. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effectiveness and safety of bisphosphonates in increasing bone mineral density, reducing fractures and improving clinical function in people with osteogenesis imperfecta...
October 19, 2016: Cochrane Database of Systematic Reviews
Hao Zhang, Hua Yue, Chun Wang, Weiwei Hu, Jiemei Gu, Jinwei He, Wenzhen Fu, Yunqiu Hu, Miao Li, Zhenlin Zhang
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by brittle bone fractures. The aim of the present study was to investigate the pathogenic gene mutation spectrum and clinical manifestations of mutations in collagen type I, alpha 1 (COL1A1) and collagen type I, alpha 2 (COL1A2) genes in Chinese patients with OI. A total of 61 unrelated Chinese OI patients with COL1A1 and COL1A2 mutations were recruited. All the exons and the exon-intron boundaries of the COL1A1 and COL1A2 genes were amplified and directly sequenced and lumbar spine bone mineral density was measured by dual‑energy X‑ray absorptiometry...
October 12, 2016: Molecular Medicine Reports
Divanshu Gupta, Alaka Purohit
Osteogenesis imperfecta (OI) is a rare genetically inherited syndrome involving connective tissues, resulting in anatomic and physiologic abnormalities, which results in any form of anesthesia, a challenging task. We hereby report a case of OI type I presented with distinctively blue sclera, hearing loss, kyphoscoliosis, and mild pulmonary restrictive disease who underwent rush nail removal in the femur.
September 2016: Anesthesia, Essays and Researches
Yoshifumi Itoda, Kan Nawata, Haruo Yamauchi, Osamu Kinoshita, Mitsutoshi Kimura, Minoru Ono
Aortic insufficiency (AI) is a significant complication of long-term support of continuous flow left ventricular assist device (CF-LVAD) for patients with end-stage heart failure. A 26-year-old female with osteogenesis imperfecta (OI) was diagnosed with dilated phase hypertrophic cardiomyopathy (d-HCM)) and was implanted with Jarvik 2000, for bridge to transplantation. AI gradually developed and surgical intervention was indicated. We performed central aortic valve closure (CAVC) instead of valve replacement 20 months after CF-LVAD implantation...
October 15, 2016: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
Shinya Takigawa, Brian Frondorf, Shengzhi Liu, Yang Liu, Baiyan Li, Akihiro Sudo, Joseph M Wallace, Hiroki Yokota, Kazunori Hamamura
Salubrinal is an agent that reduces the stress to the endoplasmic reticulum by inhibiting de-phosphorylation of eukaryotic translation initiation factor 2 alpha (eIF2α). We and others have previously shown that the elevated phosphorylation of eIF2α stimulates bone formation and attenuates bone resorption. In this study, we applied salubrinal to a mouse model of osteogenesis imperfecta (Oim), and examined whether it would improve Oim's mechanical property. We conducted in vitro experiments using RAW264.7 pre-osteoclasts and bone marrow derived cells (BMDCs), and performed in vivo administration of salubrinal to Oim (+/-) mice...
October 1, 2016: Journal of Pharmacological Sciences
Anastasia N Fotiadou, Michele Calleja, Rikin Hargunani, Richard Keen
The skeletal manifestations of osteogenesis imperfecta are investigated. The antenatal and postnatal diagnosis of the disease is briefly mentioned and the characteristic appearances of bone deformities are analyzed in detail. The distinctive bony manifestations of osteogenesis imperfecta are illustrated using typical examples. Finally, we comment on the differential diagnosis.
July 2016: Seminars in Musculoskeletal Radiology
Lars Folkestad, Jannie Dahl Hald, Jeppe Gram, Bente L Langdahl, Anne Pernille Hermann, Axel Cp Diederichsen, Bo Abrahamsen, Kim Brixen
BACKGROUND: Osteogenesis imperfecta (OI) is a hereditary connective tissue disease often due to mutations in genes coding for type 1 collagen. Collagen type 1 is important in the development of the heart and vasculature. Little is known about the risk of cardiovascular disease (CVD) in OI. OBJECTIVE: To investigate the risk of symptomatic CVD in OI. DESIGN: A Danish nationwide, population-based and register-based longitudinal open cohort study...
September 30, 2016: International Journal of Cardiology
Joseph A Gil, Steven F DeFroda, Kunal Sindhu, Aristides I Cruz, Alan H Daniels
Osteogenesis imperfecta is caused by qualitative or quantitative defects in type I collagen. Although often considered a disease with primarily pediatric manifestations, more than 25% of lifetime fractures are reported to occur in adulthood. General care of adults with osteogenesis imperfecta involves measures to preserve bone density, regular monitoring of hearing and dentition, and maintenance of muscle strength through physical therapy. Surgical stabilization of fractures in these patients can be challenging because of low bone mineral density, preexisting skeletal deformities, or obstruction by instrumentation from previous surgeries...
October 13, 2016: Orthopedics
Ilkka Vuorimies, Heidi Arponen, Helena Valta, Outi Tiesalo, Marja Ekholm, Helena Ranta, Marjut Evälahti, Outi Mäkitie, Janna Waltimo-Sirén
Bisphosphonates have established their role as medical therapy for pediatric osteogenesis imperfecta (OI) patients. Since bisphosphonates have also been shown to delay tooth development in animal models, we aimed to assess whether the medication has a similar effect on children with OI. In this cross-sectional study, bisphosphonate-treated OI patients of whom dental panoramic tomograph was taken between 3 and 16years of age formed the study group. The patients, 22 in total, had been treated with pamidronate, zoledronic acid or risedronate for at least one year before the radiography...
October 7, 2016: Bone
C Barbirato, M Trancozo, M R G O Rebouças, V Sipolatti, V R R Nunes, F Paula
Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients...
September 2, 2016: Genetics and Molecular Research: GMR
Mark L Johnson
Rare bone diseases, generally defined as monogenic traits with either autosomal recessive or dominant patterns of inheritance, have provided a rich database of genes and associated pathways over the past 2-3 decades. The molecular genetic dissection of these bone diseases has yielded some major surprises in terms of the causal genes and/or involved pathways. The discovery of genes/pathways involved in diseases such as osteopetrosis, osteosclerosis, osteogenesis imperfecta and many other rare bone diseases have all accelerated our understanding of complex traits...
2016: BoneKEy Reports
Yi Liu, Jiawei Wang, Doudou Ma, Fang Lv, Xiaojie Xu, Weibo Xia, Yan Jiang, Ou Wang, Xiaoping Xing, Peiran Zhou, Jianyi Wang, Wei Yu, Mei Li
INTRODUCTION: Osteogenesis imperfecta (OI) type V is a rare inherited disease characterized by multiple fractures, intraosseous membrane calcification, and hypercallus formation. We investigate the causative gene, phenotype and also observe the effects of zoledronic acid in Chinese OI type V patients. METHODS: The clinical phenotype and causative gene mutation was investigated in eleven patients with type V OI. Patients were given a dose of zoledronic acid 5mg intravenously...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Charlotte Marshall, Jaime Lopez, Laura Crookes, Rebecca C Pollitt, Meena Balasubramanian
Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance. However, within the last two decades, there have been growing number of variants identified in genes that follow an autosomal recessive pattern of inheritance. Our proband is a child born in Mexico with multiple fractures of ribs, minimal calvarial mineralisation, platyspondyly, marked compression and deformed long bones...
September 24, 2016: Gene
Soumaya Lemai, Assya Benhabiles
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and low bone mass, rare disease (with an estimated prevalence of 1 per 10,000 to 20,000), and is responsible for fractures, long bone and vertebral deformities (spinal deformities). IOs are genetic and hereditary diseases, usually autosomal dominant, and are transmitted from generation to generation. In our country, Algeria, the rate of consanguinity is 38% to 40%, which results in an increase in "hereditary diseases". On the other hand, therapists face difficulties with patient care, made worse by the lack of a prevention policy...
September 2016: Annals of Physical and Rehabilitation Medicine
Arkady Rutkovskiy, Kåre-Olav Stensløkken, Ingvar Jarle Vaage
Ossification is a tightly regulated process, performed by specialized cells called osteoblasts. Dysregulation of this process may cause inadequate or excessive mineralization of bones or ectopic calcification, all of which have grave consequences for human health. Understanding osteoblast biology may help to treat diseases such as osteogenesis imperfecta, calcific heart valve disease, osteoporosis, and many others. Osteoblasts are bone-building cells of mesenchymal origin; they differentiate from mesenchymal progenitors, either directly or via an osteochondroprogenitor...
September 26, 2016: Medical Science Monitor Basic Research
Leonid S Grossman, Amber L Price, Eric T Rush, Jennifer L Goodwin, Maegen J Wallace, Paul W Esposito
BACKGROUND: To report a single-center surgical experience treating humeral deformity and fractures in children with osteogenesis imperfecta (OI) using the Fassier-Duval (FD) intramedullary elongating rods. METHODS: A retrospective review was conducted between December 2005 and July 2013 of all OI patients who underwent FD rodding with a minimum of 1-year follow-up. All patients were also being concurrently treated with bisphosphonates. RESULTS: Eighteen patients underwent internal fixation on a total of 35 humeri: 7 males and 11 females with an average age of 49 months...
September 22, 2016: Journal of Pediatric Orthopedics
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