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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/28448325/combined-spinal-epidural-anesthesia-with-dexmedetomidine-based-sedation-for-multiple-corrective-osteotomies-in-a-child-with-osteogenesis-imperfecta-type-iii-a-case-report
#1
Anju Gupta, Geeta Kamal, Nishkarsh Gupta, Anil Aggarwal
Osteogenesis imperfecta (OI) is a rare disabling genetic connective tissue disorder. General anesthesia in these patients is associated with increased risks. Regional anesthesia is favored wherever feasible, but there are limited reports of use of a sole regional technique in OI in pediatric patients. Moreover, combined spinal-epidural anesthesia has never been described previously. We are reporting the use of combined spinal-epidural anesthesia for a prolonged surgery (multiple osteotomies) of lower limbs in a 10-year-old wheelchair-bound child with OI type III...
April 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28442844/a-rare-case-of-bilateral-morgagni-s-hernia-with-intestinal-obstruction-and-malrotation-of-the-gut-in-an-adult-patient-with-severe-osteogenesis-imperfecta-presenting-as-severe-respiratory-distress
#2
S Y Kulgod, Amit Shivashankar Ammanagi, Pradeep Vagarali, Ravi Patil
Osteogenesis imperfecta (OI) is associated with congenital inguinal hernia that can occur due to genetic mutation. Morgagni's hernia is a rare congenital diaphragmatic herniation and is usually diagnosed in childhood. We present a case of an 18-year-old male presenting with bilateral Morgagni's hernia with intestinal obstruction with osteogenesis imperfecta with malrotation of the gut.
April 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#3
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28435282/managing-the-patient-with-osteogenesis-imperfecta-a-multidisciplinary-approach
#4
REVIEW
Caroline Marr, Alison Seasman, Nick Bishop
Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable. The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. As such, medical, surgical, and allied health professionals' assessments all play a role in the management of these children...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28433416/static-postural-control-in-youth-with-osteogenesis-imperfecta-type-i
#5
Annie Pouliot-Laforte, Martin Lemay, Frank Rauch, Louis-Nicolas Veilleux
OBJECTIVE: To assess static postural control in eyes-open and eyes-closed conditions in individuals with osteogenesis imperfecta (OI) type I as compared to typically developing (TD) individuals. The second aim was to explore the relation between postural control and lower-limbs muscle function. DESIGN: This is a cross-sectional study. SETTINGS: The study was carried out in the outpatient department of a pediatric orthopedic hospital. PARTICIPANTS: 22 individuals with OI type I (mean age [range]: 13...
April 19, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28432596/exploiting-the-wnt-signaling-pathway-for-clinical-purposes
#6
REVIEW
Mark L Johnson, Robert R Recker
PURPOSE OF REVIEW: The goal of this paper is to evaluate critically the literature published over the past 3 years regarding the Wnt signaling pathway. The Wnt pathway was found to be involved in bone biology in 2001-2002 with the discovery of a (G171V) mutation in the lipoprotein receptor-related protein 5 (LRP5) that resulted in high bone mass and another mutation that completely inactivated Lrp5 function and resulted in osteoporosis pseudoglioma syndrome (OPPG). The molecular biology has been complex, and very interesting...
April 21, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#7
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28406943/defective-enamel-and-bone-development-in-sodium-dependent-citrate-transporter-nact-slc13a5-deficient-mice
#8
Armando R Irizarry, Guirui Yan, Qingqiang Zeng, Jonathan Lucchesi, Matthew J Hamang, Yanfei L Ma, James Xiaojun Rong
There has been growing recognition of the essential roles of citrate in biomechanical properties of mineralized tissues, including teeth and bone. However, the sources of citrate in these tissues have not been well defined, and the contribution of citrate to the regulation of odontogenesis and osteogenesis has not been examined. Here, tooth and bone phenotypes were examined in sodium-dependent citrate transporter (NaCT) Slc13a5 deficient C57BL/6 mice at 13 and 32 weeks of age. Slc13a5 deficiency led to defective tooth development, characterized by absence of mature enamel, formation of aberrant enamel matrix, and dysplasia and hyperplasia of the enamel organ epithelium that progressed with age...
2017: PloS One
https://www.readbyqxmd.com/read/28396251/gene-expression-profiling-of-bone-marrow-mesenchymal-stem-cells-from-osteogenesis-imperfecta-patients-during-osteoblast-differentiation
#9
Carla Martins Kaneto, Patrícia S Pereira Lima, Karen Lima Prata, Jane Lima Dos Santos, João Monteiro de Pina Neto, Rodrigo Alexandre Panepucci, Houtan Noushmehr, Dimas Tadeu Covas, Francisco José Alburquerque de Paula, Wilson Araújo Silva
Mesenchymal stem cells (MSCs) are precursors present in adult bone marrow that are able to differentiate into osteoblasts, adipocytes and chondroblasts that have gained great importance as a source for cell therapy. Recently, a number of studies involving the analysis of gene expression of undifferentiated MSCs and of MSCs in the differentiation into multiple lineage processes were observed but there is no information concerning the gene expression of MSCs from Osteogenesis Imperfecta (OI) patients. Osteogenesis Imperfecta is characterized as a genetic disorder in which a generalized osteopenia leads to excessive bone fragility and severe bone deformities...
April 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28386803/bioactivity-and-osteointegration-of-hydroxyapatite-coated-stainless-steel-and-titanium-wires-used-for-intramedullary-osteosynthesis
#10
Arnold V Popkov, Elena N Gorbach, Natalia A Kononovich, Dmitry A Popkov, Sergey I Tverdokhlebov, Evgeniy V Shesterikov
A lot of research was conducted on the use of various biomaterials in orthopedic surgery. Our study investigated the effects of nanostructured calcium-phosphate coating on metallic implants introduced into the bone marrow canal. Stainless steel or titanium 2-mm wires (groups 1 and 2, respectively), and hydroxyapatite-coated stainless steel or titanium wires of the same diameter (groups 3 and 4, respectively) were introduced into the tibial bone marrow canal of 20 dogs (each group = 5 dogs). Hydroxyapatite coating was deposited on the wires with the method of microarc oxidation...
April 6, 2017: Strategies in Trauma and Limb Reconstruction
https://www.readbyqxmd.com/read/28378289/molecular-diagnosis-in-children-with-fractures-but-no-extraskeletal-signs-of-osteogenesis-imperfecta
#11
G Bardai, L M Ward, P Trejo, P Moffatt, F H Glorieux, F Rauch
In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes. INTRODUCTION: In children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the diagnostic yield of genetic testing in this context, by sequencing a panel of genes that are associated with OI...
April 4, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28370407/bps804-anti-sclerostin-antibody-in-adults-with-moderate-osteogenesis-imperfecta-results-of-a-randomized-phase-2a-trial
#12
Francis H Glorieux, Jean-Pierre Devogelaer, Michaela Durigova, Stefan Goemaere, Sarah Hemsley, Franz Jakob, Uwe Junker, Jon Ruckle, Lothar Seefried, Peter J Winkle
TRIAL DESIGN: This 21-week, open-label, phase 2a trial aimed to evaluate the pharmacodynamics and safety of multiple, escalating infusions of BPS804, a neutralizing, anti-sclerostin antibody, in adults with moderate osteogenesis imperfecta (OI). METHODS: Patients received BPS804 (three escalating doses each separated by 2 weeks [5, 10 and 20 mg/kg]) or no treatment (reference group). The primary efficacy endpoints were mean changes from baseline to day 43 in: procollagen type 1 N-terminal propeptide (P1NP), procollagen type 1 C-terminal propeptide (P1CP), bone-specific alkaline phosphatase (BSAP), osteocalcin (OC) and type 1 collagen cross-linked C-telopeptide (CTX-1)...
March 29, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28330797/flexible-intramedullary-nailing-for-treatment-of-proximal-humeral-and-humeral-shaft-fractures-in-children-a-retrospective-series-of-118-cases
#13
Z Pogorelić, S Kadić, K P Milunović, I Pintarić, M Jukić, D Furlan
BACKGROUND: The aim of this study was to analyze outcomes of treatment and complications in children treated with flexible intramedullary nailing (FIN) due to humeral fracture. HYPOTHESIS: The FIN for treatment of humeral fractures in children would allow an early functional and cast-free follow-up with a quick pain reduction and low complication rate. PATIENTS AND METHODS: From May 2002 until May 2016 case records of all children who underwent fixation with titanium intramedullary nails because of humeral fracture were retrospectively reviewed...
March 19, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28326186/a-novel-col1a1-mutation-in-a-family-with-osteogenesis-imperfecta-associated-with-phenotypic-variabilities
#14
Toshiyuki Seto, Toshiyuki Yamamoto, Keiko Shimojima, Haruo Shintaku
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this family showed various complications, such as heart valve diseases and severe scoliosis. The clinical heterogeneity in the family is discussed in this study.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28323993/bisphosphonate-treatment-and-the-characteristics-of-femoral-fractures-in-children-with-osteogenesis-imperfecta
#15
Ilkka Vuorimies, Mervi K Mäyränpää, Helena Valta, Heikki Kröger, Sanna Toiviainen-Salo, Outi Mäkitie
Context: The short-term benefits of bisphosphonates (BPs) are evident in the treatment of children with osteogenesis imperfecta (OI), but some concerns related to long-term effects remain. Objective: To elucidate the effect of BPs on characteristics of femoral fractures in children with OI. Design and Setting: Retrospective cohort study at a university hospital. Patients and Main Outcome Measure: The study included 93 patients with OI...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323974/phenotypic-spectrum-in-osteogenesis-imperfecta-due-to-mutations-in-tmem38b-unravelling-a-complex-cellular-defect
#16
Emma A Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J Crabtree, Brandi M Sargent, Sonja Gamsjaeger, Eleftherios P Paschalis, Paul Roschger, Klaus Klaushofer, Nick J Shaw, Joan C Marini, Wolfgang Högler
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies. Design and Setting: Natural history study in paediatric research centres. Patients: Eight patients with type XIV OI. Main Outcome Measures: Clinical examinations included: bone mineral density, radiographs, echocardiography and muscle biopsy...
March 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28319678/a-prenatal-case-of-osteogenesis-imperfecta-diagnosed-with-next-generation-sequencing
#17
Yi He, Jin-Mei Yan, Yan-Hui Liu, Jin Han, Dong-Zhi Li
No abstract text is available yet for this article.
March 20, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28317307/osteogenesis-imperfecta-complicated-with-renal-hypoplasia-leads-to-chronic-kidney-disease
#18
Takao Konomoto, Jun Kurogi, Hirotake Sawada, Satoshi Hisano, Hiroyuki Nunoi
No abstract text is available yet for this article.
March 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28277468/the-outcomes-of-nonelongating-intramedullary-fixation-of-the-lower-extremity-for-pediatric-osteogenesis-imperfecta-patients-a-meta-analysis
#19
Joseph P Scollan, Julio J Jauregui, Christina M Jacobsen, Joshua M Abzug
BACKGROUND: Osteogenesis imperfecta is usually due to autosomal dominant mutations in type I collagen, leading to an increase in fractures and bone deformities, especially in the long bones of the lower extremities. The use of nonelongating intramedullary rods is an established surgical intervention to address such deformities. The rate of surgical complications has been reported to be as high as 187%, with revision rates as high as 90%, although exact global rates are unknown. As such, we sought to determine the published rates of (1) bone-related complications (including both fracture and deformity), (2) rod migration, and (3) complications that require reoperation...
March 8, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28261977/tissue-specific-mosaicism-for-a-lethal-osteogenesis-imperfecta-col1a1-mutation-causes-mild-oi-eds-overlap-syndrome
#20
Sofie Symoens, Wouter Steyaert, Lynn Demuynck, Anne De Paepe, Karin E M Diderich, Fransiska Malfait, Paul J Coucke
Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers-Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Biochemical collagen analysis of the patients' dermal fibroblasts showed faint overmodification of the type I collagen bands, a finding specific for structural defects in type I collagen...
March 6, 2017: American Journal of Medical Genetics. Part A
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