Read by QxMD icon Read

Imperfect Osteogenesis

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
Carolyn J Baglole, Feng Liang, Hussein Traboulsi, Angela Rico de Souza, Christian Giordano, Josephine T Tauer, Frank Rauch, Basil J Petrof
BackgroundOsteogenesis imperfecta (OI) is most often caused by mutations in type I collagen genes. Respiratory complications have been largely attributed to spine and ribcage deformities. We hypothesized that direct involvement of the pulmonary parenchyma and/or diaphragm by the disease may occur.MethodsIn Col1a1Jrt/+ mice, a model of severe dominant OI, mean linear intercept length (Lm) was used to assess the distal airspace size. Cross-sectional area (CSA) and myosin heavy chain (MyHC) phenotype of the diaphragm muscle fibers, as well as contractile properties, were determined...
May 9, 2018: Pediatric Research
Lixue Ouyang, Fan Yang
RATIONALE: Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP genes have been reported. PATIENT CONCERNS: A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 cases...
December 2017: Medicine (Baltimore)
Yichi Xu, Haoye Meng, Heyong Yin, Zhen Sun, Jiang Peng, Xiaolong Xu, Quanyi Guo, Wenjing Xu, Xiaoming Yu, Zhiguo Yuan, Bo Xiao, Cheng Wang, Yu Wang, Shuyun Liu, Shibi Lu, Zhaoxu Wang, Aiyuan Wang
Degradation limits the application of magnesium alloys, and evaluation methods for non-traumatic in vivo quantification of implant degradation and bone formation are imperfect. In the present study, a micro-arc-oxidized AZ31 magnesium alloy was used to evaluate the degradation of implants and new bone formation in 60 male New Zealand white rabbits. Degradation was monitored by weighing the implants prior to and following implantation, and by performing micro-computed tomography (CT) scans and histological analysis after 1, 4, 12, 24, 36, and 48 weeks of implantation...
January 2018: Experimental and Therapeutic Medicine
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
Guowei Li, Yanling Jin, Mitchell A H Levine, Heike Hoyer-Kuhn, Leanne Ward, Jonathan D Adachi
No abstract text is available yet for this article.
March 2018: Acta Paediatrica
Vito Pavone, Teresa Mattina, Piero Pavone, Raffaele Falsaperla, Gianluca Testa
INTRODUCTION: Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency...
May 2017: Journal of Orthopaedic Case Reports
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...
January 2017: 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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"