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imperfecta osteogenesis

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https://www.readbyqxmd.com/read/29909786/longitudinal-analysis-of-the-audiological-phenotype-in-osteogenesis-imperfecta-a-follow-up-study
#1
S Martens, I J M Dhooge, F K R Swinnen
OBJECTIVE: This prospective study involved a longitudinal analysis of the progression of hearing thresholds in patients with osteogenesis imperfecta. METHODS: Audiometric results from 36 osteogenesis imperfecta patients (age range, 6-79 years) were compared between two test times with an average interval of 4 years. Audiometric evaluation included acoustic admittance measurements, acoustic stapedial reflex measurements, pure tone audiometry and otoacoustic emissions testing...
June 18, 2018: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/29909596/osteogenesis-imperfecta-muscle-bone-interactions-when-bi-directionally-compromised
#2
REVIEW
Charlotte L Phillips, Youngjae Jeong
PURPOSE OF REVIEW: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder of skeletal fragility and more recently muscle weakness. This review highlights our current knowledge of the impact of compromised OI muscle function on muscle-bone interactions and skeletal strength in OI. RECENT FINDINGS: The ramifications of inherent muscle weakness in OI muscle-bone interactions are just beginning to be elucidated. Studies in patients and in OI mouse models implicate altered mechanosensing, energy metabolism, mitochondrial dysfunction, and paracrine/endocrine crosstalk in the pathogenesis of OI...
June 16, 2018: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/29909096/aortic-valve-replacement-for-aortic-regurgitation-associated-with-osteogenesis-imperfecta
#3
Keito Suzuki, Akira Sezai, Satoshi Unosawa, Hiroyuki Hao, Masashi Tanaka
No abstract text is available yet for this article.
May 24, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29896840/17q21-32-q22-deletion-in-a-girl-with-osteogenesis-imperfecta-tricho-dento-osseous-syndrome-and-intellectual-disability
#4
Takayuki Yokoi, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
The17q21q22 region contains COL1A1 and DLX3. COL1A1 haploinsufficiency mutations and heterozygous deletion of the entire COL1A1 gene lead to the mildest form of Osteogenesis Imperfecta (OI) type 1 (Bardai et al., 2015; Mannstadt et al., 2014; van Dijk et al., 2010).
June 12, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29884797/a-novel-frameshift-deletion-in-pls3-causing-severe-primary-osteoporosis
#5
Alice Costantini, Panagiotis Ν Krallis, Anders Kämpe, Emmanouil M Karavitakis, Fulya Taylan, Outi Mäkitie, Artemis Doulgeraki
Mutations in the gene encoding plastin-3, PLS3, have recently been associated to severe primary osteoporosis. The molecular function of plastin-3 is not fully understood. Since PLS3 is located on the X chromosome, males are usually more severely affected than females. PLS3 mutations have thus far been reported in approximately 20 young patients with low bone mineral density (BMD). We describe an 8-year-old Greek boy with severe primary osteoporosis with multiple vertebral compression fractures and one low-energy long bone fracture...
June 8, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29881216/supracondylar-femur-fracture-repair-using-illuminoss-in-a-patient-with-osteogenesis-imperfecta-type-4
#6
D Meijering, G J Harsevoort, A J M Janus, S H van Helden
No abstract text is available yet for this article.
June 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29866498/-a-new-radiological-image-in-osteogenesis-imperfecta-%C3%A2-smoke-cloud%C3%A2
#7
Miguel Ángel Molina Gutiérrez, Belén Sagastizabal Cardelus, María Luisa Lorente Jareño, María Del Pilar Gutiérrez Díez
No abstract text is available yet for this article.
June 1, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29862271/beneficial-effects-of-concentrated-growth-factors-and-resveratrol-on-human-osteoblasts-in-vitro-treated-with-bisphosphonates
#8
Elisa Borsani, Veronica Bonazza, Barbara Buffoli, Pier Francesco Nocini, Massimo Albanese, Francesca Zotti, Francesco Inchingolo, Rita Rezzani, Luigi F Rodella
Bisphosphonates are primary pharmacological agents against osteoclast-mediated bone loss and widely used in the clinical practice for prevention and treatment of a variety of skeletal conditions, such as low bone density and osteogenesis imperfecta, and pathologies, such as osteoporosis, malignancies metastatic to bone, Paget disease of bone, multiple myeloma, and hypercalcemia of malignancy. However, long-term bisphosphonate treatment is associated with pathologic conditions including osteonecrosis of the jaw, named BRONJ, which impaired bone regeneration process...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29851749/radial-head-dislocation-and-malalignment-in-osteogenesis-imperfecta-type-v-case-report-pitfalls-in-the-treatment-and-review-of-the-literature
#9
Pietro Persiani, Lorena Martini, Filippo Maria Ranaldi, Anna Zambrano, Mauro Celli, Ciro Villani, Patrizia D'Eufemia
No abstract text is available yet for this article.
July 2018: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/29845016/spinal-anesthesia-in-an-infant-with-osteogenesis-imperfecta
#10
Ozkan Onal, Muhammed Emin Zora, Emine Aslanlar, Aysun Ozdemirkan, Jale Bengi Celik
No abstract text is available yet for this article.
February 2018: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/29813187/skeletal-response-to-soluble-activin-receptor-type-iib-in-mouse-models-of-osteogenesis-imperfecta
#11
Youngjae Jeong, Salah A Daghlas, Xie Yixia, Molly A Hulbert, Ferris M Pfeiffer, Mark R Dallas, Catherine L Omosule, R Scott Pearsall, Sarah L Dallas, Charlotte L Phillips
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder primarily due to mutations in the type I collagen genes (COL1A1 and COL1A2), leading to compromised biomechanical integrity in type I collagen containing tissues such as bone. Bone is inherently mechanosensitive and thus responds and adapts to external stimuli, such as muscle mass and contractile strength, to alter its mass and shape. Myostatin, a member of the TGF-β superfamily, signals through activin receptor type IIB to negatively regulate muscle fiber growth...
May 29, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29809174/micro-computed-tomography-reconstructions-of-tibiae-of-stem-cell-transplanted-osteogenesis-imperfecta-mice
#12
Anna M Ranzoni, Michelangelo Corcelli, Timothy R Arnett, Pascale V Guillot
Micro-computed tomography (micro-CT) is commonly used to assess bone quality and to evaluate the outcome of experimental therapies in animal models of bone diseases. Generating large datasets is however challenging and data are rarely made publicly available through shared repositories. Here we describe a dataset of micro-CT reconstructed scans of the proximal part of 21 tibiae from wild-type mice, osteogenesis imperfecta mice (homozygous oim/oim) and oim/oim mice transplanted with human amniotic fluid stem cells...
May 29, 2018: Scientific Data
https://www.readbyqxmd.com/read/29807018/genotype-phenotype-correlation-among-malaysian-patients-with-osteogenesis-imperfecta
#13
Nadiah Mohd Nawawi, Nalini M Selveindran, Rahmah Rasat, Chow Yock Ping, Zarina Abdul Latiff, Syed Zulkifli Syed Zakaria, Rahman Jamal, Nor Azian Abdul Murad, Bilkis Banu Abd Aziz
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. Nevertheless, new genes have been identified to be causally linked to OI. The clinical features between each OI groups share great similarities and it is sometimes difficult for clinicians to diagnose the disease accurately. Here, we identify the genetic mutations of OI patients from Malaysia and correlate the genetic mutations with the clinical features...
May 25, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29801479/splicing-defect-in-fkbp10-gene-causes-autosomal-recessive-osteogenesis-imperfecta-disease-a-case-report
#14
Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi
BACKGROUND: Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance...
May 25, 2018: BMC Medical Genetics
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Shohei Eto, Satoshi Hada, Rie Fukuhara, Gen Nishimura, Masaki Takagi
No abstract text is available yet for this article.
May 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
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