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Imperfect Osteogenesis

P D'Eufemia, R Finocchiaro, A Zambrano, V Lodato, L Celli, S Finocchiaro, P Persiani, A Turchetti, M Celli
: This study evaluates serum creatine kinase isoenzyme activity in children with osteogenesis imperfecta to determine its usefulness as a biochemical marker during treatment with bisphosphonate. The changes of creatine kinase (CK) isoenzyme activity during and after discontinuation therapy were observed. These results could be useful in addressing over-treatment risk prevention. INTRODUCTION: The brain isoenzyme of creatine kinase (CKbb) is highly expressed in mature osteoclasts during osteoclastogenesis, thus plays an important role in bone resorption...
August 25, 2016: Osteoporosis International
Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee-Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa, Adeline Jacquinet, Yusuke Yamazumi, Shu-Ting Chen, Alain Verloes, Yuki Okada, Yuki Katou, Tomohiko Nakamura, Tetsu Akiyama, Pierre Gressens, Roger Foo, Sandrine Passemard, Ene-Choo Tan, Vincent El Ghouzzi, Katsuhiko Shirahige
Cellular homeostasis is maintained by the highly organized cooperation of intracellular trafficking systems, including COPI, COPII, and clathrin complexes. COPI is a coatomer protein complex responsible for intracellular protein transport between the endoplasmic reticulum and the Golgi apparatus. The importance of such intracellular transport mechanisms is underscored by the various disorders, including skeletal disorders such as cranio-lenticulo-sutural dysplasia and osteogenesis imperfect, caused by mutations in the COPII coatomer complex...
August 4, 2016: American Journal of Human Genetics
Havva Serap Toru, Banu Guzel Nur, Cem Yasar Sanhal, Ercan Mihci, İnanç Mendilcioğlu, Elanur Yilmaz, Gulden Tasova Yilmaz, Irem Hicran Ozbudak, Kamil Karaali, Ozgul M Alper, Fatma Şeyda Karaveli
Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1...
2015: Fetal and Pediatric Pathology
Ahmet Şalvarcı, Serdar Altınay
Due to their efficient osteoclastic inhibitor effect in bone metabolism and antiangiogenic activity, bisphosphonates are widely used in many cancer diseases particularly in prostate cancers with bone metastasis, lung cancer, breast cancer and multiple myeloma, as well as in systemic diseases such as osteoporosis, osteopenia, Paget disease and osteogenesis imperfect for the last 13 years. Prostate cancer is a common cancer in males and it is the leading cause of bone metastasis. Mandibular metastasis is rarely encountered during the course of prostate cancer...
March 2015: Turkish Journal of Urology
Jianhai Wang, Xiuzhi Ren, Xue Bai, Tianke Zhang, Yi Wang, Keqiu Li, Guang Li
Osteogenesis imperfecta (OI), a congenital bone disorder, is caused by mutations in COL1A1 and COL1A2 genes, leading to deficiency of type I collagen. The high resolution melting (HRM) analysis has been used for detecting mutations, polymorphisms and epigenetic alteration in double-stranded DNAs. This study was to evaluate the potential application of HRM analysis for identifying gene mutations in patients with OI. This study included four children with OI and their parents and fifty normal people as controls...
2015: Scientific Reports
Vuk Uskokovic
This article provides a critical view of the current state of the development of nanoparticulate and other solid-state carriers for the local delivery of antibiotics in the treatment of osteomyelitis. Mentioned are the downsides of traditional means for treating bone infection, which involve systemic administration of antibiotics and surgical debridement, along with the rather imperfect local delivery options currently available in the clinic. Envisaged are more sophisticated carriers for the local and sustained delivery of antimicrobials, including bioresorbable polymeric, collagenous, liquid crystalline, and bioglass- and nanotube-based carriers, as well as those composed of calcium phosphate, the mineral component of bone and teeth...
2015: Critical Reviews in Therapeutic Drug Carrier Systems
Hui Zhang, Dong Wu, Qiaofang Hou, Zhiyou Liu, Litao Qin, Shixiu Liao
OBJECTIVE: To detect mutation of COL1A1 gene in a Chinese family affected with type I osteogenesis imperfecta (OI) and to provide prenatal diagnosis for a fetus at 17th gestational week. METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclease analysis were used to verify the detected mutation among other members of the family and 100 healthy controls. RESULTS: No mutation has been detected in the COL1A2 gene in all of the subjects...
December 2014: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Samir K Trehan, Emmanouil Morakis, Cathleen L Raggio, Kristin D Twomey, Daniel W Green
BACKGROUND: Osteogenesis imperfect (OI) is a genetic disorder characterized by increased bone fragility, frequent fractures, and extremity deformities among other clinical findings. A frequent radiographic finding in OI patients is acetabular protrusio (AP). We hypothesized that AP incidence would be significant in OI patients and highest among type III OI patients, who have a more severe disease phenotype. In addition, we hypothesized that there would be a correlation between AP and proximal femur fracture incidence...
September 2015: Journal of Pediatric Orthopedics
Bernat de Pablo Márquez, Ana María Cueto González, Christian Yela Verdú, Maria Elena May Llanes
No abstract text is available yet for this article.
December 23, 2014: Medicina Clínica
R J Escribano-Rey, J Duart-Clemente, O Martínez de la Llana, J L Beguiristáin-Gúrpide
OBJECTIVES: To describe our experience in the management of patients with osteogenesis imperfect (OI). MATERIAL AND METHODS: We conducted a retrospective study of a series of cases affected with OI treated in the Clínica Univesidad de Navarra from 1980 to 2007, with a mean follow up of 17.3 years (7-27 years). We collected descriptive data of the sample, the fractures and the deformities, and the treatments given. The complications presented and the functional outcomes at the end of follow-up were also reviewed...
March 2014: Revista Española de Cirugía Ortopédica y Traumatología
Penelope Pauley, Brya G Matthews, Liping Wang, Nathaniel A Dyment, Igor Matic, David W Rowe, Ivo Kalajzic
PURPOSE: Osteogenesis imperfecta is a serious genetic disorder that results from improper type I collagen production. We aimed to evaluate whether bone marrow stromal cells (BMSC) delivered locally into femurs were able to engraft, differentiate into osteoblasts, and contribute to formation of normal bone matrix in the osteogenesis imperfect murine (oim) model. METHODS: Donor BMSCs from bone-specific reporter mice (Col2.3GFP) were expanded in vitro and transplanted into the femoral intramedullary cavity of oim mice...
September 2014: International Orthopaedics
J Rituerto Sin, A Neville, N Emami
Hafnium is a passive metal with good biocompatibility and osteogenesis, however, little is known about its resistance to wear and corrosion in biological environments. The corrosion and tribocorrosion behavior of hafnium and commercially pure (CP) titanium in simulated body fluids were investigated using electrochemical techniques. Cyclic polarization scans and open circuit potential measurements were performed in 0.9% NaCl solution and 25% bovine calf serum solution to assess the effect of organic species on the corrosion behavior of the metal...
August 2014: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
Wanwisa Himakhun, Kitiwan Rojnueangnit, Sariya Prachukthum
Osteogenesis imperfecta (OI) is an inherited disorder of type I collagen synthesis with an estimate incidence of I in 100,000 live births. Among all types, OI type II is the most severe type with perinatal death. The authors describes a male neonate with characteristic features of osteogenesis imperfect type II, including short crumpling limbs, beaded ribs, poorly bony ossification and blue sclera. Autopsy with histological study revealed not only multiple fractures, but pulmonary hypoplasia and intracerebral hemorrhages were also present...
January 2012: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Antonella Vimercati, Mariantonietta Panzarino, Ilaria Totaro, Annarosa Chincoli, Luigi Selvaggi
OBJECTIVE: this paper reports an association between an increased Nuchal Translucency (NT) and Osteogenesis Imperfecta (OI), a type of skeletal dysplasia. Measurement of fetal NT at 10-14 weeks of gestation is a sensitive and effective screening method for chromosomal abnormalities. METHODS: a 35-year- old Caucasian woman in her fourth pregnancy was referred to our clinic for an ultrasound scan at 12 weeks of gestation, that confirmed increased Nuchal Translucency...
January 2013: Journal of Prenatal Medicine
Naresh Lingaraju, P J Nagarathna, R Vijayalakshmi, P Sheshadri
Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone deformity, scoliosis, barrel shaped rib cage, and short stature. The clinical, radiographic ad histologic features are reviewed along with management aspects...
January 2013: Journal of Contemporary Dental Practice
Ziqiang Wang, Yanqin Lu, Xiuzhi Ren, Yanzhou Wang, Zhiliang Li, Chao Xu, Jinxiang Han
We screened differential expression bone-related microRNAs (miRNAs) in serum of patients with osteogenesis imperfect (OI). First, we selected the reference gene (s) fit for quantitative detection of serum miRNAs by using geNorm and several other programmes. Then real-time fluorescent quntitative PCR was used to detect the expression level of bone-related miRNAs gained by means of miRanda, Targetscan and Pictar softwares caculation and reading literature. Then, the results were analyzed with the matched t test...
October 2012: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
P S Shilpa, Chaya M David, Rachna Kaul, C J Sanjay, B K Ram Narayan
Dentinogenesis imperfect (DI) is a hereditary dentine disorder affecting both deciduous and permanent teeth. DI is caused by mutations in genes encoding for type I collagen leading to discoloration of teeth. Shield around 30 years ago classified DI into 3 types (type I, II, and III). DI type I is associated with osteogenesis imperfect (OI), which is an inheritable disorder of connective tissue. Bone fragility and fracture of bone with minor trauma are hallmarks of this disorder. The objective of this article is to report and review a rare case of DI with OI affecting 4 generations of the family...
April 2012: Contemporary Clinical Dentistry
S Zhang, F S Kaplan, E M Shore
Progressive osseous heteroplasia (POH) and fibrous dysplasia (FD) are genetic diseases of bone formation at opposite ends of the osteogenic spectrum: imperfect osteogenesis of the skeleton occurs in FD, while heterotopic ossification in skin, subcutaneous fat, and skeletal muscle forms in POH. POH is caused by heterozygous inactivating germline mutations in GNAS, which encodes G-protein subunits regulating the cAMP pathway, while FD is caused by GNAS somatic activating mutations. We used pluripotent mouse ES cells to examine the effects of Gnas dysregulation on osteoblast differentiation...
September 2012: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Hao Peng, Yuhui Zhang, Zhigao Long, Ding Zhao, Zhenxin Guo, Jinjie Xue, Zhiguo Xie, Zhimin Xiong, Xiaojuan Xu, Wei Su, Bing Wang, Kun Xia, Zhengmao Hu
Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c...
July 10, 2012: Gene
Shu-Wei Chang, Sandra J Shefelbine, Markus J Buehler
Collagen constitutes one-third of the human proteome, providing mechanical stability, elasticity, and strength to organisms. Normal type I collagen is a heterotrimer triple-helical molecule consisting of two α-1 chains and one α-2 chain. The homotrimeric isoform of type I collagen, which consists of three α-1 chains, is only found in fetal tissues, fibrosis, and cancer in humans. A mouse model of the genetic brittle bone disease, osteogenesis imperfect, oim, is characterized by a replacement of the α-2 chain by an α-1 chain, resulting also in a homotrimer collagen molecule...
February 8, 2012: Biophysical Journal
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