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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/29344653/a-novel-variant-of-osteogenesis-imperfecta-type-iv-and-low-serum-phosphorus-level-caused-by-a-val94asp-mutation-in-col1a1
#1
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI...
January 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29344330/developments-in-rare-bone-diseases-and-mineral-disorders
#2
REVIEW
Siobhan Bacon, Rachel Crowley
In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. We review the other therapies showing promising results, including denosumab, teriparatide, sclerostin, transforming growth factor β inhibition and gene targeted approaches...
January 2018: Therapeutic Advances in Chronic Disease
https://www.readbyqxmd.com/read/29329516/bilateral-giant-retinal-tears-in-osteogenesis-imperfecta
#3
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
BACKGROUND: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI...
January 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29317961/successful-treatment-of-rapidly-progressive-life-threatening-esophageal-submucosal-hematoma-in-a-patient-with-van-der-hoeve-syndrome
#4
Yasuhiro Watanabe, Naomi Shimizu, Masahiro Iwakawa, Takashi Yamaguchi, Noriko Ban, Hidetoshi Kawana, Atsuhito Saiki, Emiko Sakaida, Chiaki Nakaseko, Yasuhiro Matsuura, Nobuyuki Aotsuka, Hideaki Bujo, Ichiro Tatsuno
Osteogenesis imperfecta (OI) is a rare inherited disorder of the connective tissue with many reports on its association with bleeding diatheses. OI patients with blue sclera, hearing loss, and bone vulnerability are classified as having van der Hoeve syndrome. Here, we report the first case of rapidly progressing, massive esophageal submucosal hematoma in this syndrome. Bleeding in OI is reportedly due to defective capillary integrity and platelet dysfunction; however, our patient did not show such findings...
February 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29310786/production-and-purification-of-recombinant-human-sparc
#5
Gail Workman, Amy D Bradshaw
The matricellular protein SPARC (secreted protein acidic and rich in cysteine, also known as osteonectin or as BM-40) is a collagen-binding protein with a capacity to induce cell rounding and influence proliferation in cultured cells. In mice that do not express SPARC, fibrillar collagen is reduced in some adult tissues; notably, a reduction in fibrosis is reported in response to fibrotic stimuli in lungs, heart, skin, liver, and in the eye. Recently, mutations in the gene encoding SPARC were found in patients afflicted with osteogenesis imperfecta...
2018: Methods in Cell Biology
https://www.readbyqxmd.com/read/29310646/fatigue-and-disturbances-of-sleep-in-patients-with-osteogenesis-imperfecta-a-cross-sectional-questionnaire-study
#6
Heidi Arponen, Janna Waltimo-Sirén, Helena Valta, Outi Mäkitie
BACKGROUND: Persisting fatigue has been reported to be a common complaint by individuals with connective tissue disorders, including Osteogenesis imperfecta (OI). This controlled study evaluated in an adult OI population the subjective experience of fatigue, affecting daily life. Sleep disturbances and chronic pain were examined as hypothesized underlying factors. METHODS: This cross-sectional study analyzed the answers of 56 OI patients and 56 matched healthy controls to a questionnaire, designed to evaluate levels of experienced fatigue and bodily pain, as well as the presence or absence of symptoms related to sleep disturbances or sleep apnea...
January 8, 2018: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29285457/osteogenesis-imperfecta
#7
REVIEW
Justin Easow Sam, Mala Dharmalingam
Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI-XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts. The mainstay of treatment is bisphosphonate therapy. The prognosis is variable.
November 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29285334/bisphosphonates-therapy-in-children-with-osteogenesis-imperfecta-clinical-experience-in-oral-surgery
#8
G Ierardo, M Bossù, G D'Angeli, M Celli, G Sfasciotti
Objectives: To define the possible complications of oral surgery in childhood in patients affected by type 1 Osteogenesis imperfecta (OI) and treated with bisphosphonates (BP). Methods: The study was conducted among 20 patients in childhood with an age range 8-14 (12 ♂ e 8 ♀) affected by OI. Patients were initially evaluated at the Policlinico Umberto I, University Hospital of Rome, Rare Disease Center Skeletal Dysplasia-Bone Metabolic Pathologies and after at the Policlinico Umberto I, University Hospital of Rome, Head and Neck Department, UOC Pediatric Dentistry...
July 2017: Oral & Implantology
https://www.readbyqxmd.com/read/29258527/case-report-osteogenesis-imperfecta-internal-mammary-artery-graft-nitinol-clips
#9
Ludovic Melly, Anne-Sophie Dincq, Claude Hanet, Benoît Rondelet
BACKGROUND: Osteogenesis imperfecta is a genetic disorder of connective tissue causing mostly left-sided heart valves and aortic root pathologies, but a coronary artery involvement reflecting an increased sensitivity to cardiovascular risk factors is also suspected in this patient population. CASE PRESENTATION: We report a 38-year-old patient with an osteogenesis imperfecta and a typical presentation of an acute myocardial infarction. The coronary angiogram showed a coronary 3-vessel disease...
December 19, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/29225276/mitral-regurgitation-and-heart-failure-as-the-first-presentation-in-a-patient-with-features-of-two-connective-tissue-disorders-a-rare-combination-of-mucopolysaccharidosis-and-osteogenesis-imperfecta
#10
Yasuhiro Hamatani, Junko Nakashima, Keiko Ohta-Ogo, Makoto Amaki, Masashi Koga, Daisetsu Aoyama, Kyohei Marume, Kenichiro Sawada, Yasuteru Nakashima, Atsushi Shibata, Atsushi Okada, Hiroyuki Takahama, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Yoshihiko Ikeda, Satoshi Yasuda, Hatsue Ishibashi-Ueda, Toshihisa Anzai
Connective tissue disorders sometimes involve cardiovascular systems. This report describes the case of a middle-aged man with mitral regurgitation and heart failure. He had distinctive features of mucopolysaccharidosis (MPS) type III, but no gene mutations that were known to be associated with MPS. Meanwhile, he had a COL1A2 gene mutation that is associated with osteogenesis imperfecta (OI), and had some features that were compatible with OI. The patient might have had a rare connective tissue disorder with the characteristics of MPS type III and OI, which was initially detected as a result of the cardiovascular manifestations...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29216697/-case-report-total-hip-replacement-in-osteogenesis-imperfecta
#11
T Ferrer-Catasús, A León-García, M Tey-Pons, A L Arenas-Díaz, F Marqués-López
We study, apropos of a case, a total hip arthroplasty in a patient with osteogenesis imperfecta. The characteristics of this disease, such as high risk of fracture and the presence of deformities, make this surgery a challenge for the orthopedic surgeon. In this manuscript, we review for the first time in this indication the preoperative planning and the selection of implants, with special emphasis on measures for the prevention of complications.
July 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/29207224/-bone-biopsy-in-the-chronic-kidney-disease-ckd
#12
REVIEW
Luca Dalle Carbonare, Maria Teresa Valenti
Histomorphometry or quantitative histology is the analysis on histologic sections of bone resorption, formation and structure parameters. It is the only technique allowing a dynamic evaluation of osteoblast activity after labelling with tetracycline. In addition, the use of computed image analyzer allows the possibility to assess bone microarchitecture. Histomorphometric bone biopsy is a reliable and well-tolerated procedure. Bone samples are taken at iliac crest level under local anesthesia and sedation. Samples are put into methyl-metacrilate resin where the sections are prepared for the microscopic analysis of different histomorphometric parameters...
December 5, 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29189536/incidence-of-fractures-from-perioperative-blood-pressure-cuff-use-tourniquet-use-and-patient-positioning-in-osteogenesis-imperfecta
#13
Brian T Sullivan, Adam Margalit, Vaibhav S Garg, Dolores B Njoku, Paul D Sponseller
BACKGROUND: Osteogenesis imperfecta (OI) is a rare connective tissue disease with varying severity. Patients with OI are highly susceptible to skeletal fractures. Optimal perioperative management of these patients is not well defined. We investigated the risks associated with intraoperative use of noninvasive blood pressure (NIBP) cuffs, tourniquets, and intra-arterial catheters, and patient positioning in children with OI. METHODS: We retrospectively reviewed records of patients younger than 21 years with OI who underwent surgery with general anesthesia from 2010 to 2016 at our tertiary care center...
November 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29188603/-genetic-mutation-and-clinical-features-of-osteogenesis-imperfecta-type-v
#14
Shizhen Guan, Xue Bai, Yi Wang, Zhigang Liu, Xiuzhi Ren, Tianke Zhang, Mingyan Ju, Keqiu Li, Guang Li
OBJECTIVE: To explore genetic mutations and clinical features of osteogenesis imperfecta type V. METHODS: Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. RESULTS: A heterozygous mutation (c...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29187770/classification-of-micro-ct-images-using-3d-characterization-of-bone-canal-patterns-in-human-osteogenesis-imperfecta
#15
Anas Z Abidin, John Jameson, Robert Molthen, Axel Wismüller
Few studies have analyzed the microstructural properties of bone in cases of Osteogenenis Imperfecta (OI), or 'brittle bone disease'. Current approaches mainly focus on bone mineral density measurements as an indirect indicator of bone strength and quality. It has been shown that bone strength would depend not only on composition but also structural organization. This study aims to characterize 3D structure of the cortical bone in high-resolution micro CT images. A total of 40 bone fragments from 28 subjects (13 with OI and 15 healthy controls) were imaged using micro tomography using a synchrotron light source (SRμCT)...
March 2017: Proceedings of SPIE
https://www.readbyqxmd.com/read/29186693/osteocyte-intrinsic-tgf-%C3%AE-signaling-regulates-bone-quality-through-perilacunar-canalicular-remodeling
#16
Neha S Dole, Courtney M Mazur, Claire Acevedo, Justin P Lopez, David A Monteiro, Tristan W Fowler, Bernd Gludovatz, Flynn Walsh, Jenna N Regan, Sara Messina, Daniel S Evans, Thomas F Lang, Bin Zhang, Robert O Ritchie, Khalid S Mohammad, Tamara Alliston
Poor bone quality contributes to bone fragility in diabetes, aging, and osteogenesis imperfecta. However, the mechanisms controlling bone quality are not well understood, contributing to the current lack of strategies to diagnose or treat bone quality deficits. Transforming growth factor beta (TGF-β) signaling is a crucial mechanism known to regulate the material quality of bone, but its cellular target in this regulation is unknown. Studies showing that osteocytes directly remodel their perilacunar/canalicular matrix led us to hypothesize that TGF-β controls bone quality through perilacunar/canalicular remodeling (PLR)...
November 28, 2017: Cell Reports
https://www.readbyqxmd.com/read/29182597/-epidemiology-of-imperfect-osteogenesis-a-rare-disease-in-the-valencia-region
#17
Silvia Gimeno-Martos, Carlos Pérez-Riera, Sandra Guardiola-Vilarroig, Clara Cavero-Carbonell
OBJECTIVE: Osteogenesis imperfecta (OI) is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The objective was to determine and describe the OI in the Valencia Region (VR) during the period 2004 to 2014. METHODS: From the Rare Diseases Information System of the VR (SIER-CV) patients from 2004 to 2014 with the codes of the International Classification of Diseases for the OI were identified: 756.51 from the 9th Revision-Clinical Modification and Q78...
November 28, 2017: Revista Española de Salud Pública
https://www.readbyqxmd.com/read/29178448/expanding-the-clinical-spectrum-of-phenotypes-caused-by-pathogenic-variants-in-plod2
#18
Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, Débora Romeo Bertola, Eva Åström, Johan Svensson, Guilherme Lopes Yamamoto, Anna Hammarsjö, Eva Horemuzova, Nikos Papadiogannakis, Erik Iwarsson, Giedre Grigelioniene, Emma Tham
Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dyplasias also include syndromes such as kyphomelic dysplasia [MIM:211350] and mesomelic dysplasia Kozlowski-Reardon [MIM249710], both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI...
November 27, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29177700/novel-mutations-in-plod2-cause-rare-bruck-syndrome
#19
Fang Lv, Xiaojie Xu, Yuwen Song, Lujiao Li, Asan, Jian Wang, Huanming Yang, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li
Bruck syndrome is a rare autosomal recessive form of osteogenesis imperfecta (OI), which is mainly characterized by joint contractures and recurrent fragility fractures. Mutations in FKBP10 and PLOD2 were identified as the underlying genetic defects of Bruck syndrome. Here we investigated the phenotypes and the pathogenic mutations of three unrelated Chinese patients with Bruck syndrome. Clinical fractures, bone mineral density (BMD), bone turnover biomarkers, and skeletal images were evaluated in detail. The pathogenic mutations were identified by targeted next-generation sequencing and subsequently confirmed by Sanger sequencing and cosegregation analysis...
November 24, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29174564/crispr-cas9-engineered-osteogenesis-imperfecta-type-v-leads-to-severe-skeletal-deformities-and-perinatal-lethality-in-mice
#20
Frank Rauch, Yeqing Geng, Lisa Lamplugh, Bahareh Hekmatnejad, Marie-Hélène Gaumond, Janice Penney, Yojiro Yamanaka, Pierre Moffatt
Osteogenesis imperfecta (OI) type V is caused by an autosomal dominant mutation in the IFITM5 gene, also known as BRIL. The c.-14C>T mutation in the 5'UTR of BRIL creates a novel translational start site adding 5 residues (MALEP) in frame with the natural coding of BRIL. A neomorphic function has been proposed for the MALEP-BRIL but the mechanisms at play are still unknown. In order to further understand the effects of MALEP-BRIL in vivo, we generated a knockin (KI) mouse model having the exact genetic -14C>T replica of patients with OI type V...
November 22, 2017: Bone
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