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Osteogenesis imperfecta

Diana Olvera, Rachel Stolzenfeld, Joan C Marini, Michelle S Caird, Kenneth M Kozloff
Osteogenesis imperfecta (OI) is a genetic disorder characterized by altered bone quality and imbalanced bone remodeling, leading to skeletal fractures which are most prominent during childhood. Treatments for OI have focused on restoring pediatric bone density and architecture to recover functional strength and consequently reduce fragility. Though antiresorptive agents like bisphosphonates (BP) are currently the most common intervention for the treatment of OI, a number of studies have shown efficacy of sclerostin antibody (SclAb) in inducing gains in bone mass and reducing fragility in OI mouse models...
March 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Aleksandra Augusciak-Duma, Joanna Witecka, Aleksander L Sieron, Magdalena Janeczko, Jacek J Pietrzyk, Karolina Ochman, Anna Galicka, Maria K Borszewska-Kornacka, Jacek Pilch, Elzbieta Jakubowska-Pietkiewicz
Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined...
March 15, 2018: Acta Biochimica Polonica
Roy Morello
Osteogenesis imperfecta, or brittle bone disease, is a congenital disease that primarily causes low bone mass and bone fractures but it can negatively affect other organs. It is usually inherited in an autosomal dominant fashion, although rarer recessive and X-chromosome-linked forms of the disease have been identified. In addition to type I collagen, mutations in a number of other genes, often involved in type I collagen synthesis or in the differentiation and function of osteoblasts, have been identified in the last several years...
March 11, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
Carolyn J Baglole, Feng Liang, Hussein Traboulsi, Angela Rico de Souza, Christian Giordano, Josephine T Tauer, Frank Rauch, Basil J Petrof
BACKGROUND: Osteogenesis imperfecta (OI) is most often caused by mutations in type I collagen genes. Respiratory complications have been largely attributed to spine and ribcage deformities. We hypothesized that direct involvement of the pulmonary parenchyma and/or diaphragm by the disease may occur. METHODS: In Col1a1Jrt/+ mice, a model of severe dominant OI, mean linear intercept length (Lm) was used to assess distal airspace size. Cross-sectional area (CSA) and myosin heavy chain (MyHC) phenotype of diaphragm muscle fibers, as well as contractile properties, were determined...
March 14, 2018: Pediatric Research
Brian C Goh, Amit Jain, Paul D Sponseller
CASE: A 12-year-old girl with osteogenesis imperfecta (OI) underwent posterior spinal arthrodesis (from T2 to the sacrum) for double major-curve scoliosis. She developed complete paralysis of all of the extremities 24 hours after surgery, without evidence of ischemia or infarction. The rods were removed, and the neurologic status improved; there was full restoration of strength within 1 week. She then underwent in situ fixation. At the 2-year follow-up, there had been no lapse in neurologic function...
March 14, 2018: JBJS Case Connector
Lois Salter, Amaka C Offiah, Nicholas Bishop
BACKGROUND: Elevated platelet counts are observed in cancer, autoimmunity and inflammation with concurrent illness. Proinflammatory cytokines are elevated in murine osteogenesis imperfecta (OI) models. We hypothesised that platelet counts might be elevated in children with moderate-severe OI. METHODS: We reviewed the hospital records of 71 children with moderate-severe OI, treated in the Sheffield Children's Hospital's Severe, Complex and Atypical Osteogenesis Imperfecta Highly Specialised Service...
March 13, 2018: Archives of Disease in Childhood
Y Song, D Zhao, X Xu, F Lv, L Li, Y Jiang, O Wang, W Xia, X Xing, M Li
We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by low bone mineral density, recurrent fractures, and progressive bone deformities...
March 9, 2018: Osteoporosis International
K H Bendixen, H Gjørup, L Baad-Hansen, J Dahl Hald, T Harsløf, M H Schmidt, B L Langdahl, D Haubek
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by a number of deviations in the orofacial region. The aims of the present study were to investigate the occurrence of temporomandibular disorders, to evaluate the psychosocial status, and to assess the dental occlusion in a population of adult OI patients. METHODS: Participants (n = 75) were classified with mild OI, type I (n = 56), or moderate-severe OI, type III and IV (n = 19). OI patients were examined according to the Research Diagnostic Criteria for Temporomandibular Disorders (axis I and II)...
March 7, 2018: BMC Oral Health
Hao Zhang, Yang Xu, Hua Yue, Chun Wang, Jiemei Gu, Jinwei He, Wenzhen Fu, Weiwei Hu, Zhenlin Zhang
The aim of the present study was to characterize the clinical manifestations and identify the mutations of Serpin family F member 1 (SERPINF1) and FK506 binding protein 10 (FKBP10) genes in Chinese patients with osteogenesis imperfecta (OI). Using whole‑exome sequencing in the first and third probands, a novel mutation was identified in SERPINF1 and a novel compound heterozygous mutation was revealed in FKBP10. Using Sanger sequencing, an additional novel mutation in SERPINF1 was identified in a proband of family 2...
March 7, 2018: International Journal of Molecular Medicine
Toshimi Michigami
Congenital skeletal dysplasias have been considered to be fundamentally untreatable diseases. However, molecular diagnosis by genetic testing has become more prevalent, and efforts are being made to develop novel therapies based on the pathogenesis. As treatments for osteogenesis imperfecta, in addition to anti-resorptive agents, neutralizing antibodies against sclerostin and transforming growth factor(TGF)-β and chemical chaperones can be beneficial. Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has been recently developed to treat hypophosphatasia and has much improved the prognosis of the patients affected with severe forms of the disease...
2018: Clinical Calcium
Pamela Trejo, Frank Rauch, Leanne Ward
Children with osteogenesis imperfecta (OI) type VI often have high fracture rates despite the current standard treatment with bisphosphonates. Subcutaneous injections of denosumab have been proposed as an alternative treatment approach, but safety data on denosumab in children are limited. Here we describe fluctuations in bone and mineral metabolism during denosumab treatment in four children with OI type VI who started denosumab (basic protocol: 1 mg per kg body mass every 3 months) between 1.9 and 9.0 years of age, after having received intravenous bisphosphonates previously...
March 1, 2018: Journal of Musculoskeletal & Neuronal Interactions
Peter J Simm, Andrew Biggin, Margaret R Zacharin, Christine P Rodda, Elaine Tham, Aris Siafarikas, Craig Jefferies, Paul L Hofman, Diane E Jensen, Helen Woodhead, Justin Brown, Benjamin J Wheeler, Denise Brookes, Antony Lafferty, Craig F Munns
Bisphosphonate therapy is the mainstay of pharmacological intervention in young people with skeletal fragility. The evidence of its use in a variety of conditions remains limited despite over three decades of clinical experience. On behalf of the Australasian Paediatric Endocrine Group, this evidence-based consensus guideline presents recommendations and discusses the graded evidence (using the GRADE system) for these recommendations. Primary bone fragility disorders such as osteogenesis imperfecta are considered separately from osteoporosis secondary to other clinical conditions (such as cerebral palsy, Duchenne muscular dystrophy)...
March 2018: Journal of Paediatrics and Child Health
Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix
BACKGROUND: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil...
March 2, 2018: BMC Pediatrics
Julia Mrosk, SriLakshmi Bhavani Gandham, Hitesh Shah, Jochen Hecht, Ulrike Krüger, Anju Shukla, Uwe Kornak, Katta Mohan Girisha
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disorder. Although differential diagnosis is greatly facilitated by next generation sequencing, its availability can vary considerably. In this study, we compared targeted gene panel or exome sequencing with clinical scoring and grouping in a cohort of 50 OI index patients recruited by a single Indian clinical center in an unselected fashion. In 48 patients we observed a total of 24 novel mutations and 24 known OI mutations, of which several were recurrent...
February 27, 2018: Bone
Thivviya Vairamuthu, Susan Pfeiffer
The Late Archaic in northeastern North America (4500-2800 B.P.) pre-dates reliance on pottery and domesticated plants. It is thought to reflect a highly mobile, seasonal migratory foraging/hunting regimen. A juvenile skeleton with pervasive bone wasting and fragile jaws from the Hind Site (AdHk-1), ca. 3000 B.P., southwestern Ontario, provides evidence of the social context of her family group, including aspects of mobility and food management. The well-preserved bones and teeth are considered in bioarchaeological context...
March 2018: International Journal of Paleopathology
Avgi Loizidou, Savvas Andronikou, Christine P Burren
Osteogenesis imperfecta is a hereditary bone dysplasia characterized by bone fragility, deformity, and short stature. Treatment focuses on preventing bone fractures and symptom relief. Pamidronate, a second-generation bisphosphonate drug that minimizes bone loss, is the chosen treatment in osteogenesis imperfecta. Radiologically, each cycle of pamidronate treatment is depicted as a line of sclerosed nondecalcified cartilage at the metaphysis, termed a pamidronate line. In this case report, we demonstrate that a treatment timeline can be visualized on plain radiographs as the number and spacing of pamidronate lines reflects the number and timing of treatment cycles...
December 2017: Radiology Case Reports
Inusha Panigrahi, Siyaram Didel, Harita Kirpal, Ravishankara Bellampalli, Shabna Miyanath, Nandita Mullapudi, Sudha Rao
Osteogenesis imperfecta (OI) is an inherited disorder with osteoporosis and recurrent fractures. Children presenting with recurrent fractures and bowing of limbs have severe form of the disorder. Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis. We identified a family with novel WNT1 mutation. The index case, a 6 month old child presented with fractures from early infancy. Next generation sequencing (NGS)done for the child didn't show any variations in other OI genes including COL1A1, COL1A2, SERPINH1, CRTAP, LEPRE1, PP1B, 1F1TM5 and BMP1 genes...
February 23, 2018: European Journal of Medical Genetics
Alexandra Fane De Salis, Reza Saatchi, Paul Dimitri
Vertebral fractures are common in children with osteogenesis imperfecta (OI). Current imaging methods for fracture detection (X-ray and DXA) use ionising radiation. This pilot study explored whether the alteration in blood flow in vertebral fractures results in skin temperature changes that may be detected using high resolution thermal imaging (HRTI) and thus assist diagnosis and monitoring of fractures in OI patients. Eleven participants aged 5-18 years with OI and known vertebral fractures were enrolled...
February 26, 2018: Medical & Biological Engineering & Computing
Fang Lv, Yi Liu, Xiaojie Xu, Yuwen Song, Lujiao Li, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing
OBJECTIVE: Bisphosphonates have been demonstrated to increase the bone mineral density (BMD) of osteogenesis imperfecta (OI) patients. We aimed to compare the efficacy and safety of intravenous zoledronic acid and oral alendronate in patients with OI. METHODS: A total of 161 patients with OI ranging from 2 to 16 years old were included and randomized at a 2:1 ratio to receive either weekly oral alendronate (ALN) 70 mg or a once-yearly infusion of zoledronic acid (ZOL) for 2 years...
February 2018: Endocrine Practice
Morgan Jones, Lee Breakwell, Ashley Cole, Paul Arundel, Nick Bishop
PURPOSE: The objective of this article is to report a case of type V osteogenesis imperfecta (OI) undergoing posterior instrumented fusion for scoliosis. Type V OI is a moderately severe dysplasia causing primary defects in endochondral bone ossification or mineralisation. It is characterised by hyperplastic callus (HPC) formation, interosseous membrane calcifications, poor bone quality and spinal deformities including scoliosis. Data on the surgical management of spinal deformities in this patient group are lacking...
February 19, 2018: European Spine Journal
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