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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/28326186/a-novel-col1a1-mutation-in-a-family-with-osteogenesis-imperfecta-associated-with-phenotypic-variabilities
#1
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
#2
Ilkka Vuorimies, Mervi K Mäyränpää, Helena Valta, Heikki Kröger, Sanna Toiviainen-Salo, Outi Mäkitie
CONTEXT: Bisphosphonates' (BPs) short-term benefits are evident in the treatment of children with osteogenesis imperfecta (OI) but some concerns related to long-term effects still 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: Study included 93 patients with OI...
January 17, 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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28257626/two-novel-compound-heterozygous-bmp1-mutations-in-a-patient-with-osteogenesis-imperfecta-a-case-report
#8
Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic activity to remove the C-propeptide from procollagen. CASE PRESENTATION: We report a Thai OI patient who had his first fracture at the age of three months. Using next generation sequencing, we successfully identified two novel compound heterozygous BMP1 mutations...
March 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28242392/two-novel-mutations-in-the-ppib-gene-cause-a-rare-pedigree-of-osteogenesis-imperfecta-type-ix
#9
Yu Jiang, Jingxin Pan, Dongwei Guo, Wei Zhang, Jie Xie, Zishui Fang, Chunmiao Guo, Qun Fang, Weiying Jiang, Yibin Guo
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder characterized by increased bone fragility and vulnerability to fractures. PPIB is identified as a candidate gene for OI-IX, here we detect two pathogenic mutations in PPIB and analyze the genotype-phenotype correlation in a Chinese family with OI. METHODS: Next-generation sequencing (NGS) was used to screen the whole exome of the parents of proband. Screening of variation frequency, evolutionary conservation comparisons, pathogenicity evaluation, and protein structure prediction were conducted to assess the pathogenicity of the novel mutations...
February 24, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28242145/delayed-recognition-of-hypopharyngeal-perforation-injury-caused-by-transesophageal-echocardiography-in-a-patient-with-osteogenesis-imperfecta
#10
Alex Cravanas, Aneeta Bhatia, Jiapeng Huang
No abstract text is available yet for this article.
December 9, 2016: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#11
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28206698/fkbp10-deletion-in-osteoblasts-leads-to-qualitative-defects-in-bone
#12
Caressa D Lietman, Joohyun Lim, Ingo Grafe, Yuqing Chen, Hao Ding, Xiaohong Bi, Catherine G Ambrose, Nadja Fratzl-Zelman, Paul Roschger, Klaus Klaushofer, Wolfgang Wagermaier, Ingo Schmidt, Peter Fratzl, Jyoti Rai, MaryAnn Weis, David Eyre, Douglas R Keene, Deborah Krakow, Brendan H Lee
Osteogenesis imperfecta (OI), also known as brittle bone disease, displays a spectrum of clinical severity from mild (OI type I) to severe early lethality (OI type II), with clinical features including low bone mass, fractures, and deformities. Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65-kDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass. We previously showed that Fkbp10 expression is limited to bone, tendon, and ligaments in postnatal tissues...
February 16, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#13
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28177155/a-chaperone-complex-formed-by-hsp47-fkbp65-and-bip-modulates-telopeptide-lysyl-hydroxylation-of-type-i-procollagen
#14
Ivan Duran, Jorge H Martin, Mary Ann Weis, Pavel Krejci, Peter Konik, Bing Li, Yasemin Alanay, Caressa Lietman, Brendan Lee, David Eyre, Daniel H Cohn, Deborah Krakow
Lysine hydroxylation of type I collagen telopeptides varies from tissue to tissue and these distinct hydroxylation patterns modulate collagen crosslinking to generate a unique extracellular matrix. Abnormalities in these patterns contribute to pathologies that include osteogenesis imperfecta (OI), fibrosis and cancer. Telopeptide procollagen modifications are carried out by lysyl hydroxylase 2 (LH2), however, little is known regarding how this enzyme regulates hydroxylation patterns. We identified an ER complex of resident chaperones that includes HSP47, FKBP65 and BiP regulating the activity of LH2...
February 8, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28173822/an-example-of-the-utility-of-genomic-analysis-for-fast-and-accurate-clinical-diagnosis-of-complex-rare-phenotypes
#15
Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J Williams, Maria Bitner-Glindzicz
BACKGROUND: We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt...
February 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28144608/the-current-perspectives-of-stem-cell-therapy-in-orthopedic-surgery
#16
REVIEW
Serkan Akpancar, Oner Tatar, Hasan Turgut, Faruk Akyildiz, Safak Ekinci
CONTEXT: Musculoskeletal injuries may be painful, troublesome, life limiting and also one of the global health problems. There has been considerable amount of interest during the past two decades to stem cells and tissue engineering techniques in orthopedic surgery, especially to manage special and compulsive injuries within the musculoskeletal system. EVIDENCE ACQUISITION: The aim of this study was to present a literature review regarding the most recent progress in stem cell procedures and current indications in orthopedics clinical care practice...
December 2016: Archives of Trauma Research
https://www.readbyqxmd.com/read/28130572/long-term-effects-of-neridronate-in-adults-with-osteogenesis-imperfecta-an-observational-three-year-italian-study
#17
O Viapiana, L Idolazzi, A Fassio, G Orsolini, M Rossini, G Adami, F Bertoldo, D Gatti
The aim of this study was to assess the long-term efficacy and safety of i.v. neridronate in the treatment of osteogenesis imperfecta (OI). One hundred and fourteen patients affected by OI were included in the study. Neridronate was administered by i.v. infusion at the dosage of 2 mg/kg, up to a maximum of 100 mg at three-month intervals for 3 years. Dual X-ray absorptiometry of the lumbar spine, hip, and ultradistal and proximal radius were evaluated every 6 months. Blood calcium, phosphate, albumin, fasting urinary calcium/creatinine ratio, total serum alkaline phosphatase, and bone alkaline phosphatase were obtained at baseline and every 3 months...
January 27, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28120769/ruptured-intracranial-aneurysm-in-patients-with-osteogenesis-imperfecta-2-familial-cases-and-a-systematic-review-of-the-literature
#18
REVIEW
T Gaberel, A Rochey, C di Palma, F Lucas, E Touze, E Emery
OBJECTIVE: Osteogenesis imperfecta is an inherited connective tissue disorder that causes bone fragility. Vascular complications have been described, but only few cases of ruptured intracranial aneurysm have been reported. MATERIALS AND METHODS: We first described 2 familial cases of ruptured intracranial aneurysm and then conducted a systematic review of the literature. RESULTS: A mother and her daughter with a typical history of osteogenesis imperfecta presented with subarachnoid hemorrhage, which was related to a posterior communicating artery aneurysm in both cases...
December 2016: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#19
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E Heath, Pablo Lapunzina, Victor L Ruiz-Perez
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28098982/glycine-substitutions-in-collagen-heterotrimers-alter-triple-helical-assembly
#20
Katherine A Clements, Amanda M Acevedo-Jake, Douglas R Walker, Jeffrey D Hartgerink
Osteogenesis imperfecta typically results from missense mutations in the collagen genome where the required glycine residues are replaced with another amino acid. Many models have attempted to replicate the structure of mutated collagen on the triple helix level. However, composition and register control of the triple helix is complicated and requires extreme precision, especially when these destabilizing mutations are present. Here we present mutations to a composition- and register-controlled AAB helix where one of the requisite glycines in the A chain of the triple helix is changed to serine or alanine...
January 18, 2017: Biomacromolecules
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