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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/28098982/glycine-substitutions-in-collagen-heterotrimers-alter-triple-helical-assembly
#1
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
https://www.readbyqxmd.com/read/28094678/orthotic-treatment-of-positional-brachycephaly-associated-with-osteogenesis-imperfecta
#2
Carolina G Matarazzo, Gerd Schreen, Camilla D do Lago-Rizzardi, Maria Stella Peccin, Fernando Cg Pinto
Osteogenesis imperfecta is an inherited disorder of the connective tissue characterized primarily by fractures with no or small causal antecedents and extremely variable clinical presentation. The disorder requires a global and, therefore, multidisciplinary therapeutic approach that should aim, among other aspects, at the prevention and treatment of deformities resulting from osteogenesis imperfecta. Due to limitations related to bony deformities, it can be difficult to place these infants in a variety of positions that would help remediate skull deformities, so a cranial orthosis becomes the therapy of choice...
January 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28089253/progressive-bilateral-vertebral-artery-dissection-in-a-case-of-osteogenesis-imperfecta
#3
Yuji Kato, Harumitsu Nagoya, Tetsuya Abe, Takeshi Hayashi, Masanori Yasuda, Akira Uchino, Norio Tanahashi, Masaki Takao
A 32-year-old woman with osteogenesis imperfecta (OI) was admitted to the hospital because of a right-sided occipital headache and facial paresthesia. She was diagnosed with lateral medullary syndrome due to right vertebral artery (VA) dissection. She was treated conservatively without antithrombotic therapy. She developed subarachnoid hemorrhage because of contralateral VA dissection 18 days later. This clinical course may reflect the underlying weakness of the vessel wall in OI. In patients with OI, occlusion of a unilateral VA could cause dissection and subsequent rupture of the contralateral VA...
January 11, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28068493/bmp1-and-tll1-are-required-for-maintaining-periodontal-homeostasis
#4
J Wang, D Massoudi, Y Ren, A M Muir, S E Harris, D S Greenspan, J Q Feng
Mutations in bone morphogenetic protein 1 (BMP1) in humans or deletion of BMP1 and related protease tolloid like 1 (TLL1) in mice lead to osteogenesis imperfecta (OI). Here, we show progressive periodontal defects in mice in which both BMP1 and TLL1 have been conditionally ablated, including malformed periodontal ligament (PDL) (recently shown to play key roles in normal alveolar bone formation), significant loss in alveolar bone mass ( P < 0.01), and a sharp reduction in cellular cementum. Molecular mechanism studies revealed a dramatic increase in the uncleaved precursor of type I collagen (procollagen I) and a reduction in dentin matrix protein 1 (DMP1), which is partially responsible for defects in extracellular matrix (ECM) formation and mineralization...
January 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28058531/developmental-charts-for-children-with-osteogenesis-imperfecta-type-i-body-height-body-weight-and-bmi
#5
Krzysztof Graff, Malgorzata Syczewska
: Osteogenesis imperfecta (OI) is a rare genetic disorder of type I collagen. Type I is the most common, which is called a non-deforming type of OI, as in this condition, there are no major bone deformities. This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. The body height of these patients is regarded as normal, or only slightly reduced, but there are no data proving this in the literature. The aim of this study is the preparation of the developmental charts of children with OI type I...
January 5, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28057908/clinical-application-of-quantitative-computed-tomography-in-osteogenesis-imperfecta-suspected-cat
#6
Sungjun Won, Woo-Jo Chung, Junghee Yoon
One year-old male Persian cat was presented with multiple fractures without known traumatic history. Marked decrease of bone radiopacity and thin cortices of all long bones were identified in radiography. Tentative diagnosis was osteogenesis imperfecta, which is congenital disorder characterized with fragile bone. To identify bone material density (BMD), quantitative computed tomography (QCT) was performed. With QCT, mean trabecular BMD of vertebral bodies was 149.9 ± 86.5 mg/cm³. After bisphosphonate therapy, BMD of same site was 218...
January 4, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28040117/skeletal-dysplasia-with-bowing-long-bones-proposed-flowchart-for-prenatal-diagnosis-with-case-demonstration
#7
Gabriele Tonni, Marcella Palmisano, Mario Lituania, Gianpaolo Grisolia, Ave Maria Baffico, Maria Paola Bonasoni, Pierpaolo Pattacini, Claudio De Felice, Edward Araujo Júnior
OBJECTIVE: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS AND METHODS: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. RESULTS: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28035422/-corrigendum-clinical-characteristics-and-the-identification-of-novel-mutations-of-col1a1-and-col1a2-in-61%C3%A2-chinese-patients-with-osteogenesis-imperfecta
#8
Hao Zhang, Hua Yue, Chun Wang, Weiwei Hu, Jiemei Gu, Jinwei He, Wenzhen Fu, Yunqiu Hu, Miao Li, Zhenlin Zhang
Following the publication of this article, an interested reader drew to our attention that, in Table IV, we describe a c.1081C>T, p.Arg361X mutation in collagen type I, alpha 2 (COL1A2). Codon 361 is a glycine residue, not an arginine, according to the transcript, Z74616.1. We re‑examined the original data, and identified that the mutation c.1081C>T, p.Arg361X was of the collagen type I, alpha 1 COL1A1 gene, and furthermore, it was not novel in the mutation spectrum of COL1A1. Therefore, in the paper, the c...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28031688/premature-atherosclerosis-and-drug-eluting-stent-restenosis-in-an-adult-with-osteogenesis-imperfecta
#9
Mutlu Gungor, Mustafa Aparci, Ali C Özer
Mild form of osteogenesis imperfecta (OI) may have a normal life span. However, cardiovascular complications including aortic and valvular heart disease, and coronary artery disease may complicate the life period. We presented a patient with mild form of OI and premature coronary atherosclerosis. He had been performed primary percutaneous angioplasty and drug eluting stent implantation to left anterior descending coronary artery osteal lesion. Then he presented with unstable angina pectoris due to the diffuse in-stent restenosis and a highly critical lesion adjacent to previously stented segment...
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28019684/diaphyseal-femur-fractures-in-osteogenesis-imperfecta-characteristics-and-relationship-with-bisphosphonate-treatment
#10
Pamela Trejo, François Fassier, Francis H Glorieux, Frank Rauch
Several recent case reports have suggested that bisphosphonate treatment in individuals with osteogenesis imperfecta (OI) is causally related to atypical femur fractures. However, it is not known whether atypical femur fractures are actually more frequent in patients who have received bisphosphonates. In the present study, we retrospectively analyzed 166 femur fractures in 119 children with a diagnosis of OI that had not undergone intramedullary rodding procedures. A total of 130 fractures in 90 patients occurred in femurs with pre-existing deformities (age at fracture between 1 month and 19...
December 26, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28009707/the-spine-in-patients-with-osteogenesis-imperfecta
#11
Maegen J Wallace, Richard W Kruse, Suken A Shah
Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology. The incidence of lumbosacral spondylolysis and spondylolisthesis is higher in patients with osteogenesis imperfecta than in the general population...
February 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28003667/urinary-cross-linked-n-terminal-telopeptide-of-type-i-collagen-levels-of-infants-with-osteogenesis-imperfecta-and-healthy-infants
#12
Miho Yamashita, Kosei Hasegawa, Yousuke Higuchi, Takayuki Miyai, Ayumi Okada, Hiroyuki Tanaka, Hirokazu Tsukahara
The urinary cross-linked N-terminal telopeptide of type I collagen (uNTx) levels in infantile osteogenesis imperfecta (OI) have not been well studied. Here we investigated the levels of uNTx in infants with OI and healthy infants. We collected spot urine samples from 30 infants with OI (male/female, 14/16; Sillence classification, I/II/III/IV: 15/3/6/6; age, 5.2±4.4 months) and 120 healthy infants (male/female, 75/45; age, 5.1±4.1 months) for the measurement of uNTx levels. The uNTx levels of the OI infants were significantly lower than those of the healthy infants (mean±SD, 1,363...
December 2016: Acta Medica Okayama
https://www.readbyqxmd.com/read/27995994/counteracting-bone-fragility-with-human-amniotic-mesenchymal-stem-cells
#13
Anna M Ranzoni, Michelangelo Corcelli, Kwan-Leong Hau, Jemma G Kerns, Maximilien Vanleene, Sandra Shefelbine, Gemma N Jones, Dafni Moschidou, Benan Dala-Ali, Allen E Goodship, Paolo De Coppi, Timothy R Arnett, Pascale V Guillot
The impaired maturation of bone-forming osteoblasts results in reduced bone formation and subsequent bone weakening, which leads to a number of conditions such as osteogenesis imperfecta (OI). Transplantation of human fetal mesenchymal stem cells has been proposed as skeletal anabolic therapy to enhance bone formation, but the mechanisms underlying the contribution of the donor cells to bone health are poorly understood and require further elucidation. Here, we show that intraperitoneal injection of human amniotic mesenchymal stem cells (AFSCs) into a mouse model of OI (oim mice) reduced fracture susceptibility, increased bone strength, improved bone quality and micro-architecture, normalised bone remodelling and reduced TNFα and TGFβ sigalling...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27942778/novel-mutations-in-the-sec24d-gene-in-chinese-families-with-autosomal-recessive-osteogenesis-imperfecta
#14
H Zhang, H Yue, C Wang, J Gu, J He, W Fu, W Hu, Z Zhang
: We sought to characterize the phenotypes and identify the SEC24D gene mutations associated with Chinese families of osteogenesis imperfecta (OI). Using whole-exome sequencing, we discovered two novel compound SEC24D mutations of OI patients. Our study extended both the phenotypic and the genotype of the OI patients with SEC24D mutations. INTRODUCTION: To date, only three compound heterozygous mutations in the SEC24D gene have been found to cause recessively inherited forms of OI...
December 10, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27932823/hereditary-dentine-dysplasias-terminology-in-the-context-of-osteogenesis-imperfecta
#15
M Chetty, T Roberts, L X G Stephen, P Beighton
Hereditary dentine dysplasias (HDD) such as dentinogenesis imperfecta (DI) and dentine dysplasia (DD) are a group of genetic conditions characterised by an abnormal dentine structure due to disturbances in the formation, composition, or organisation of the dentine matrix. Either the primary or both primary and secondary dentition are affected to varying degrees. These disorders result from mutations in the genes encoding the major protein constituents of dentine, notably collagens and phosphoproteins. The clinical and radiological features of the hereditary dentine dysplasias (HDD) are relevant to clinical dentistry, in particular osteogenesis imperfecta (OI) which is a well-known heterogeneous genetic disorder...
December 9, 2016: British Dental Journal
https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#16
REVIEW
Heeseog Kang, Smriti Aryal A C, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27898502/-full-metal-jacket-treatment-of-multiple-paravalvular-leaks
#17
Giuseppe Santoro, Giancarlo Scognamiglio, Maria T Palladino, Carola Iacono, Giampiero Gaio, Maria G Russo
A 40-year-old man with osteogenesis imperfecta type I submitted to multiple procedures of surgical mitral and aortic valve replacement was referred for refractory congestive heart failure due to significant paravalvular leaks (PVLs) of both mitral and aortic prostheses. Due to perceived very high risk of a further mitroaortic surgery, transcatheter closure of PVLs under three-dimensional echocardiographic guide was performed. Thus, four Amplatzer Vascular Plug type II (St. Jude Medical Corp, St. Paul, Minnesota, USA) devices were implanted into the aortic PVLs, and three Amplatzer Vascular Plug type II devices were used to occlude a huge mitral PVL...
November 24, 2016: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/27894323/health-related-quality-of-life-and-a-cost-utility-simulation-of-adults-in-the-uk-with-osteogenesis-imperfecta-x-linked-hypophosphatemia-and-fibrous-dysplasia
#18
Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K Javaid, Rafael Pinedo-Villanueva
BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016...
November 28, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27885708/oldest-medical-description-of-osteogenesis-imperfecta-17th-century-france
#19
Philippe Charlier, Antonio Perciaccante, Raffaella Bianucci
Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century...
November 7, 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27864101/targeted-exome-sequencing-identifies-novel-compound-heterozygous-mutations-in-p3h1-in-a-fetus-with-osteogenesis-imperfecta-type-viii
#20
Yanru Huang, Libin Mei, Weigang Lv, Haoxian Li, Rui Zhang, Qian Pan, Hu Tan, Jing Guo, Xiaomei Luo, Chen Chen, Desheng Liang, Lingqian Wu
Osteogenesis imperfecta (OI) is a highly clinically and genetically heterogeneous group of disorders. It is difficult to identify severe OI in the perinatal period. Here, a Chinese woman with a suspected history of fetal OI was referred to our institution at 19weeks of gestation, due to ultrasound inspection during antenatal screening, which revealed bulbous metaphyses, short humeri, and short thick bent femora in the fetus. Using targeted exome sequencing of 248 genes known to be involved in skeletal system diseases, we identified novel compound heterozygous mutation in the P3H1 gene in the fetus with OI type VIII: c...
January 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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