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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/29787832/a-comparative-study-of-quality-of-life-functional-and-bone-outcomes-in-osteogenesis-imperfecta-with-bisphosphonate-therapy-initiated-in-childhood-or-adulthood
#1
Andrew G Feehan, Margaret R Zacharin, Angelina S Lim, Peter J Simm
Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI in terms of fracture incidence, quality of life and physical function, with minimal published evidence to support this clinical observation. This study describes functional outcomes of a cohort of adults with OI, stratified according to severity and treated with intravenous bisphosphonates as children...
May 19, 2018: Bone
https://www.readbyqxmd.com/read/29766672/ribcage-deformity-and-the-altered-breathing-pattern-in-children-with-osteogenesis-imperfecta
#2
Antonella LoMauro, Paolo Fraschini, Simona Pochintesta, Marianna Romei, Maria G D'Angelo, Andrea Aliverti
AIM: Osteogenesis Imperfecta (OI) is a genetic disease characterized by bones fragility and progressive deformity. Life expectancy is reduced in the non-lethal most severe type III form before the age of 10 years. The main cause of death in OI is respiratory insufficiency resulting from impaired thoracic function worsened by ribcage deformity and scoliosis. METHODS: We used opto-electronic plethysmography to study chest geometry, the ventilatory, and the thoraco-abdominal pattern at rest in supine position in children younger than 10 years...
May 15, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#3
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29758270/collagen-gly-missense-mutations-effect-of-residue-identity-on-collagen-structure-and-integrin-binding
#4
Yimin Qiu, Arya Mekkat, Hongtao Yu, Sezin Yigit, Samir Hamaia, Richard W Farndale, David L Kaplan, Yu-Shan Lin, Barbara Brodsky
Gly missense mutations in type I collagen, which replace a conserved Gly in the repeating (Gly-Xaa-Yaa)n sequence with a larger residue, are known to cause Osteogenesis Imperfecta (OI). The clinical consequences of such mutations range from mild to lethal, with more serious clinical severity associated with larger Gly replacement residues. Here, we investigate the influence of the identity of the residue replacing Gly within and adjacent to the integrin binding 502 GFPGER507 sequence on triple-helix structure, stability and integrin binding using a recombinant bacterial collagen system...
May 11, 2018: Journal of Structural Biology
https://www.readbyqxmd.com/read/29706737/a-rare-case-of-triceps-brachii-injury-after-electrocution
#5
Debora Lana, Luigi Tarallo, Fabio Catani
Injuries of the triceps brachii muscle are a rare entity and mostly concern its distal tendon. These represent the least common of all muscle and tendons injuries. The most common reported causes are repeated strong physical efforts, a fall on an outstretched forearm when a sudden deceleration is put on contract triceps, or a direct trauma. High-dosed and prolonged corticosteroid therapies, repeated local steroid injections, chronic renal failure, diabetes, rheumatoid arthritis, hyperparathyroidism, and osteogenesis imperfecta are reported as systemic causes...
April 2018: Journal of Hand and Microsurgery
https://www.readbyqxmd.com/read/29700899/cyclic-intravenous-pamidronate-in-a-very-low-birthweight-infant-with-osteogenesis-imperfecta
#6
Shohei Eto, Satoshi Hada, Rie Fukuhara, Gen Nishimura, Masaki Takagi
No abstract text is available yet for this article.
April 26, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29676157/high-throughput-assay-for-collagen-secretion-suggests-an-unanticipated-role-for-hsp90-in-collagen-production
#7
Madeline Y Wong, Ngoc Duc Doan, Andrew S DiChiara, Louis J Papa, Jaime H Cheah, Christian K Soule, Nicki Watson, John D Hulleman, Matthew D Shoulders
Collagen overproduction is a feature of fibrosis and cancer, while insufficient deposition of functional collagen molecules and/or the secretion of malformed collagen are common in genetic disorders like osteogenesis imperfecta. Collagen secretion is an appealing therapeutic target in these and other diseases, as secretion directly connects intracellular biosynthesis to collagen deposition and biological function in the extracellular matrix. However, small molecule and biological methods to tune collagen secretion are severely lacking...
April 20, 2018: Biochemistry
https://www.readbyqxmd.com/read/29669893/-sost-deficiency-leads-to-reduced-mechanical-strains-at-the-tibia-midshaft-in-strain-matched-in-vivo-loading-experiments-in-mice
#8
Laia Albiol, Myriam Cilla, David Pflanz, Ina Kramer, Michaela Kneissel, Georg N Duda, Bettina M Willie, Sara Checa
Sclerostin, a product of the Sost gene, is a Wnt-inhibitor and thus negatively regulates bone accrual. Canonical Wnt/β-catenin signalling is also known to be activated in mechanotransduction. Sclerostin neutralizing antibodies are being tested in ongoing clinical trials to target osteoporosis and osteogenesis imperfecta but their interaction with mechanical stimuli on bone formation remains unclear. Sost knockout (KO) mice were examined to gain insight into how long-term Sost deficiency alters the local mechanical environment within the bone...
April 2018: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#9
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29665967/structural-and-functional-changes-in-the-heart-of-adult-patients-with-osteogenesis-imperfecta-case-control-study
#10
Verónica Hernández Jiménez, Jesús Saavedra Falero, María Teresa Alberca Vela, Rebeca Mata Caballero, José Antonio Rosado Sierra, Isabel Pavón de Paz
INTRODUCTION AND OBJECTIVES: Osteogenesis imperfecta (OI) is a connective tissue disease characterised by an anomalous synthesis of type i collagen. Little is known about the cardiovascular affectation suffered by these patients. The most frequently described are valvular dysfunction and dilatation of the aorta. We wanted to analyse the structural and functional changes of the heart in adult patients with OI. METHODS: We prospectively studied 82 patients with OI and compared them with 60 healthy subjects matched for age and sex...
April 14, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29665086/severely-impaired-bone-material-quality-in-chihuahua-zebrafish-resembles-classical-dominant-human-osteogenesis-imperfecta
#11
Imke A K Fiedler, Felix N Schmidt, Eva M Wölfel, Christine Plumeyer, Petar Milovanovic, Roberta Gioia, Francesca Tonelli, Hrishikesh A Bale, Katharina Jähn, Roberta Besio, Antonella Forlino, Björn Busse
Excessive skeletal deformations and brittle fractures in the vast majority of patients suffering from osteogenesis imperfecta (OI) are a result of substantially reduced bone quality. Since the mechanical competence of bone is dependent on the tissue characteristics at small length scales, it is of crucial importance to assess how osteogenesis imperfecta manifests at the micro- and nanoscale of bone. In this context, the Chihuahua (Chi/ +) zebrafish, carrying a heterozygous glycine substitution in the α1 chain of collagen type I, has recently been proposed as suitable animal model of classical dominant OI, showing skeletal deformities, altered mineralization patterns and a smaller body size...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29644031/the-use-of-magnetically-controlled-growing-rods-in-paediatric-osteogenesis-imperfecta-with-early-onset-progressive-scoliosis
#12
A Gardner, J Sahota, H Dong, V Saraff, W Högler, N J Shaw
Osteogenesis Imperfecta (OI) is a condition of bone fragility and can present with early onset scoliosis that can cause respiratory complications in later life. The fear of instrumenting the spine in OI is the possibility of fracture either on primary insertion or subsequent lengthening. Magnetically controlled growing rods were inserted to control a scoliosis in a 6-year old with OI type IV. Fixation was obtained using pedicle screws proximally and distally with sublaminar bands around the ribs proximally...
March 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29626679/gamma-knife-radiosurgery-for-trigeminal-neuralgia-associated-with-osteogenesis-imperfecta
#13
Yoshiyasu Iwai, Kenichi Ishibashi, Kazuhiro Yamanaka
OBJECTIVE: Trigeminal neuralgia is a rare feature of basilar impression, a complication of osteochondrodysplastic disorders. Microvascular decompression is difficult in medically refractory cases. Gamma knife radiosurgery (GKS) is effective for classical trigeminal neuralgia and we first applied this GKS for a patient suffering from trigeminal neuralgia with basilar impression complicated by osteogenesis imperfecta. CLINICAL PRESENTATION: An 18-year-old man with typeⅠosteogenesis imperfecta presented with a 2-year history of typical left trigeminal neuralgia affecting the ophthalmic, maxillary, and mandibular nerves...
April 4, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29619932/mortality-and-morbidity-in-patients-with-osteogenesis-imperfecta-in-denmark
#14
Lars Folkestad
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the National Patient Register and alive at the end of 2012 out of a total population of 5,602,628 persons...
April 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29575674/dentin-dysplasia-type-i-a-dental-disease-with-genetic-heterogeneity
#15
REVIEW
Dong Chen, Xiaocong Li, Fangli Lu, Yingying Wang, Fu Xiong, Qiang Li
Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2...
March 25, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29572562/autosomal-recessive-osteogenesis-imperfecta-caused-by-a-novel-homozygous-col1a2-mutation
#16
Alice Costantini, Symeon Tournis, Anders Kämpe, Noor Ul Ain, Fulya Taylan, Artemis Doulgeraki, Outi Mäkitie
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I collagen, COL1A1 and COL1A2 and is inherited as an autosomal dominant trait. Here, we describe a consanguineous family with autosomal recessive OI caused by a novel homozygous glycine substitution in COL1A2, NM_000089.3: c.604G>A, p.(Gly202Ser), detected by whole-genome sequencing...
March 23, 2018: Calcified Tissue International
https://www.readbyqxmd.com/read/29564298/pauwels-osteotomy-for-femoral-neck-nonunion-in-two-adult-siblings-with-osteogenesis-imperfecta
#17
Peter Kloen, Johanna C E Donders, E Marelise W Eekhoff, Reggie C Hamdy
This is a retrospective review of two adult siblings with osteogenesis imperfecta (OI) type III (according to Sillence classification), who sustained a spontaneous femoral neck fracture and subsequent nonunion. The diagnosis of OI in these two patients was made based on clinical, radiological and genetic findings. The fracture was most likely caused by femoroacetabular impingement secondary to OI induced acetabular protrusio. A valgus osteotomy according to Pauwels'principles and fixation of the osteotomy and nonunion with a locking plate resulted in healing despite compromised bone quality and limited bone stock...
March 2018: Hip & Pelvis
https://www.readbyqxmd.com/read/29562257/osteogenesis-imperfecta-and-blue-sclera
#18
Hayato Mitaka
No abstract text is available yet for this article.
March 19, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29556892/successful-anterior-cruciate-ligament-reconstruction-and-meniscal-repair-in-osteogenesis-imperfecta
#19
Jae-Young Park, Tae-Joon Cho, Myung Chul Lee, Hyuk-Soo Han
A case of anterior cruciate ligament (ACL) reconstruction with meniscal repair in an osteogenesis imperfecta patient is reported. A 24-year-old female with osteogenesis imperfecta type 1a suffered from a valgus extension injury resulting in tear of ACL and medial meniscus. She underwent an arthroscopic-assisted ACL reconstruction and medial meniscus repair. Meniscal tear at the menisco-capsular junction of the posterior horn of medial meniscus was repaired with three absorbable sutures via inside-out technique...
March 20, 2018: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/29552444/osteogenesis-imperfecta-type-iii-ehlers-danlos-overlap-syndrome-in-a-chinese-man
#20
Yanqin Lu, Yanzhou Wang, Frank Rauch, Hu Li, Yao Zhang, Naixiang Zhai, Jian Zhang, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers...
February 2018: Intractable & Rare Diseases Research
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