Infobox disease Name Osteogenesis imperfecta Image BonesCase 40,41 & 42.jpg Caption The classic blue sclerae of a person with osteogenesis imperfecta ICD10 ICD10 Q 78 0 q 65 ICD9 ICD9 756.51 ICDO OMIM MedlinePlus 001573 eMedicineSubj ped eMedicineTopic 1674 DiseasesDB 9342 MeshID D010013 Osteogenesis ... of Type I collagen . ref cite journal author Rauch F, Glorieux FH title Osteogenesis imperfecta ... S, Redaelli A, Buehler MJ title Molecular and mesoscale disease mechanisms of Osteogenesis ... cite web url http www.oif.org site PageServer?pagename FastFacts title Osteogenesis Imperfecta Foundation ... Pepin, MG, Byers, PH, Pagon, RA, Bird, TD, Dolan, CR, Stephens, K, Adam, MP title Osteogenesis Imperfecta ... recessive Type I File Osteogenesis sclerae.gif thumb Blue sclera in osteogenesis imperfecta. Collagen ... Type V osteogenesis imperfecta a new form of brittle bone disease journal J. Bone Miner. Res. volume ... Osteogenesis imperfecta Reviewed November 2007 ref Type VIII OI caused by mutation in the gene LEPRE1 ... osteogenesis imperfecta journal N. Engl. J. Med. volume 339 issue 14 pages 947 52 year 1998 pmid 9753709 ... pamidronate in children with osteogenesis imperfecta journal J. Bone Miner. Res. volume 21 issue ... AM, Fontanges E, et al. title Effects of oral alendronate on BMD in adult patients with osteogenesis ... Hospital Osteogenesis imperfecta accessdate 2007 07 05 work ref In 1959, with Edward A. Miller ... glass bone disease . The name osteogenesis imperfecta dates to at least 1895 ref K. Buday, Beitr ge zur Lehre von der Osteogenesis imperfecta 1895 ref and has been the usual medical term in the 20th ... Sillence DO, Senn A, Danks DM title Genetic heterogeneity in osteogenesis imperfecta journal J. Med ... ref An older system deemed less severe types osteogenesis imperfecta tarda while more severe forms were deemed osteogenesis imperfecta congenita. ref cite web url http www.oif.org site PageServer?pagename Glossary title Osteogenesis Imperfecta Foundation Glossary accessdate 2007 07 05 work ref As this did ... more details
Interventions infobox Name Distraction osteogenesis Image Caption ICD10 ICD9 ICD9proc 78.3 , ICD9proc 84.53 MeshID D019857 OPS301 OtherCodes Distraction osteogenesis , also called callus distraction , ref ... the bone is allowed to keep healing. Distraction osteogenesis has the benefit of simultaneously increasing .... coauthors Toth, B.A. year 1996 title Distraction osteogenesis in maxillofacial surgery using internal ... of lengthening the limb to be achieved. Difficulties arising during distraction osteogenesis Difficulties that may arise during distraction osteogenesis are commonly classified in medical scientific ... surgery surgeon , in 1951, is the oldest and most common method of distraction osteogenesis. It often ..., and crooked ones straightened. Breakthroughs in distraction osteogenesis in the 1990s, however ... Osteogenesis Correcting the majority of congenital craniofacial defects, as well as some facial injuries resulting from Physical trauma trauma , requires making bones longer. Distraction osteogenesis ..., the device will be ready to use in people. In distraction osteogenesis procedures involving ... software capable of simulating the entire process of distraction osteogenesis. ref With financial ... Osteogenesis, CIMIT Forum, October 2, 2007 ref General solid bone regeneration Infobox Anatomy Name Distraction osteogenesis Latin GraySubject GrayPage Image Meninges en.svg Caption The periosteum ... distraction osteogenesis part III. Gradual distraction versus acute lengthening journal Plast ... cite journal author ALDEGHERI, R. title Distraction Osteogenesis for Lengthening of the Tibia in Patients ... fixators . Possible uses of distraction osteogenesis Although distraction osteogenesis is most .... A list of the possible uses of distraction osteogenesis are as follows Congenital deformities birth ... Distraction osteogenesis in maxillofacial surgery using internal devices Review of five cases journal ... Rat Mandibular Distraction Osteogenesis II. Molecular Analysis of Transforming Growth Factor Beta 1 ... more details
The three letter acronym OIF may refer to the following. Geoengineering Ocean Iron Fertilization , the practice of adding iron or iron compounds to the ocean to stimulate phytoplankton growth Events Operation Iraqi Freedom , the initial portion of the Iraq War Formats Object Interchange Format, a database management protocol developed by the Object Data Management Group Foundations Optimist International Optimist International Foundation , a charitable foundation dedicated to instilling optimism in youth Osteogenesis Imperfecta Foundation, a charitable foundation in support of osteogenesis imperfecta Offices Office for Intellectual Freedom, a subunit of the American Library Association Organizations and forums Francophonie Organisation internationale de la Francophonie , or simply the Francophonie, an organization of French speaking polities Optical Internetworking Forum , a communications industry forum disambig ... more details
protein Name leucine proline enriched proteoglycan leprecan 1 caption image width HGNCid 19316 Symbol LEPRE1 AltSymbols EntrezGene 64175 OMIM 610339 RefSeq NM 022356 UniProt Q32P28 PDB ECnumber Chromosome 1 Arm p Band 34.1 LocusSupplementaryData Leprecan is a protein associated with osteogenesis imperfecta ref name pmid18566967 cite journal author Cabral WA, Chang W, Barnes AM, et al title Prolyl 3 hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal severe osteogenesis imperfecta journal Nat. Genet. volume 39 issue 3 pages 359 65 year 2007 month March pmid 17277775 doi 10.1038 ng1968 ref type VIII. References reflist External links MeshName leprecan protein, human biochem stub Fibrous proteins ... more details
deafness Nonsyndromic deafness, autosomal dominant Nonsyndromic deafness, autosomal recessive Osteogenesis imperfecta osteogenesis imperfecta Type I Osteogenesis Imperfecta, Type I osteogenesis imperfecta Type II Osteogenesis Imperfecta, Type II osteogenesis imperfecta Type III Osteogenesis Imperfecta, Type III osteogenesis imperfecta Type IV Osteogenesis Imperfecta, Type IV Smith Magenis syndrome ... more details
In bone surgery , a corticotomy is a cutting of the bone that may or may not split it into two pieces bone fracture but involves Cortex anatomy cortex only, leaving intact the Medullary cavity medullary Blood vessel vessels and periosteum . Corticotomy is particularly important in distraction osteogenesis . References http www.corronline.com pt re corr fulltext.00003086 199903000 00010.htm Bone repair techniques, bone graft, and bone graft substitutes . CR Perry Clin. Orthop. Rel. Res, 1999 corronline.com Surgery stub Category Orthopedic surgery es Corticotom a ... more details
in collagen cause the signs and symptoms of the disorder. Osteogenesis imperfecta Osteogenesis imperfecta, type I Osteogenesis imperfecta is the most common disorder caused by mutations in this gene. Mutations that inactivate one of the two copies of the COL1A1 gene cause osteogenesis imperfecta ... and other symptoms. Osteogenesis imperfecta Osteogenesis imperfecta, type II Many different types of mutations in the COL1A1 gene can cause osteogenesis imperfecta type II. These mutations range ..., type II osteogenesis imperfecta. Osteogenesis imperfecta Osteogenesis imperfecta, type III Mutations ..., leading to the signs and symptoms of type III osteogenesis imperfecta. Osteogenesis imperfecta Osteogenesis imperfecta, type IV Several different types of mutations in the COL1A1 gene cause osteogenesis imperfecta type IV. These mutations may involve missing pieces of the COL1A1 gene or changes ... collagen molecule and prevent the production of mature type I collagen, which results in type IV osteogenesis ... in stem cells from individuals with osteogenesis imperfecta journal Science year 2004 pages 1198 ... JC title Osteogenesis imperfecta prospects for molecular therapeutics journal Mol Genet Metab ... author Kocher MS, Shapiro F title Osteogenesis imperfecta journal J Am Acad Orthop Surg year 1998 pages ... Further reading citations cite journal author Byers PH, Wallis GA, Willing MC title Osteogenesis imperfecta ... UW entry on Osteogenesis Imperfecta OMIM 120150 EntrezGene 1277 http www.genecards.org cgi bin carddisp.pl ... more details
Juvenile osteoporosis is osteoporosis in children and adolescents. Osteoporosis is rare in children and adolescents. When it occurs, it is usually secondary to some other condition, ref http www.childrenfirst.nhs.uk teens health conditions o osteoporosis juvenile.html Great Ormond Street factsheet ref e.g. osteogenesis imperfecta , rickets , eating disorders or arthritis . In some cases, there is no known cause and it is called idiopathic juvenile osteoporosis . Idiopathic juvenile osteoporosis usually goes away spontaneously. ref http www.niams.nih.gov Health Info Bone Bone Health Juvenile juvenile osteoporosis.asp NIAMS page ref Also, child abuse should be suspected in recurring cases of bone fracture. Treatment for secondary juvenile osteoporosis focuses on treating any underlying disorder. References reflist Category Osteopathies Category Rare diseases medicine stub ... more details
Interventions infobox Name Electromagnetic therapy Image Caption ICD10 ICD10PCS 6A2 6 A 2 ICD9 MeshID D055909 OPS301 OtherCodes HCPCSlevel2 Electromagnetic therapy or Electromagnetic field therapy refers to therapy involving the use of magnet s or electromagnets . Types include Bioelectromagnetics , the study of how electromagnetic fields interact with and influence biological processes. Electrotherapy , the use of electrical or electromagnetic energy in medicine Electromagnetic therapy alternative medicine , the use of electromagnetic radiation to treat disease. Evidence of efficacy is lacking. Pulsed Electromagnetic Field Therapy , or PEMF , the use of weak electromagnetic fields to initiate osteogenesis . See also Magnet therapy , use of static magnetic field s with the aim of treating disease. Evidence of efficacy is lacking. Extracorporeal assistance, performance, and therapy medicine stub Category Medical procedures Category Electromagnetism ... more details
Expert subject Biology date February 2009 There are five types of bone cells . Osteoblast s These are commonly called bone forming cells. They secrete osteoid , which forms the bone matrix . They also begin mineralization biology mineralization , and are unable to divide. Osteocyte s A mature osteoblast which no longer secretes matrix, yet is surrounded by it. Maintains metabolism, and participates in nutrient waste exchange via blood. Unable to divide. Osteoclast s These function in resorption and degradation of existing bone, the opposite of osteoblasts. Monocytes a type of white blood cell fuse together to create these huge cells, which are concentrated in the endosteum . Osteoblast Osteogenesis Osteoprogenitors Immature cells which cellular differentiation differentiate to make osteoblasts . May divide. Bone lining cell Cellular structure Bone lining cells quiescent osteoblasts covering the bone ref cite journal author Miller, Scott C. Jee, Webster S. S. title The bone lining cell A distinct phenotype? journal Calcified Tissue International volume 41 issue 1 pages 1 5 year 1987 doi 10.1007 BF02555122 ref Although Osteoblast Osteogenesis osteogenic or osteoprogenitor cells are commonly mentioned in bone literature, these do not appear to be a unique type of cell. Rather, osteoblasts derive from mesenchymal stem cell s, which have shown the ability to differentiate into chondrocyte s and adipocyte s as well. Notes reflist References cite journal author Dominici M, Hofmann TJ, Horwitz EM title Bone marrow mesenchymal cells biological properties and clinical applications journal J. Biol. Regul. Homeost. Agents volume 15 issue 1 pages 28 37 year 2001 pmid 11388742 cite journal author Bianco P, Riminucci M, Gronthos S, Robey PG title Bone marrow stromal stem cells nature, biology, and potential applications journal Stem Cells volume 19 issue 3 pages 180 92 year 2001 pmid 11359943 doi 10.1634 stemcells.19 3 180 http stemcells.nih.gov info scireport appendixE.asp Stem c ... more details
Doctor Peter Radtke born 1943 is a Germany German actor and playwright who is the author of many scientific publications on disability issues and has a PhD in Romance languages . From 1957 to 1961 Peter Radtke completed training as an interpreter of English language English , French language French , and Spanish language Spanish at a private foreign language school in Regensburg . In 1963 he studied at the University of Pennsylvania and acquired a Certificate into American Culture and Civilization. Afterwards he studied at Regensburg and Geneva . He would then go on to write an autobiography and appear in three films starting in 1995 with My Mother s Courage . He did drama and theater work before that. In 2003 he was appointed as a member of the national ethics advisory committee by resolution of the Federal Cabinet. Dr. Radtke received a service medal from Bavaria on 17 July 2003. He has osteogenesis imperfecta . External links http www.ethikrat.org english press 2003 02.html German National Ethics Council page mentioning him en icon http www.iiz dvv.de englisch Publikationen Ewb ausgaben 61 2004 eng radtke.htm Interview with Peter Radtke en icon http www.peter radtke.de His website de icon IMDb name id 0705865 name Peter Radtke Persondata Metadata see Wikipedia Persondata . NAME Radtke, Peter ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1943 PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Radtke, Peter Category 1943 births Category Living people Category German actors Category German people with disabilities Category People with osteogenesis imperfecta Category Officers Crosses of the Order of Merit of the Federal Republic of Germany de Peter Radtke ... more details
MedalTableTop MedalCountry USA MedalSport Ice sledge hockey MedalCompetition Paralympic Games MedalGold 2010 Winter Paralympics 2010 Vancouver Ice sledge hockey at the 2010 Winter Paralympics Tournament MedalBottom Andrew Taylor Lipsett born in Mesquite, Texas on January 20, 1987 is an ice sledge hockey player and Paralympic Gold and bronze medalist. He graduated from Southern Methodist University and is married. ref http usparalympics.org athletes taylor lipsett Paralympic bio ref He is also a member of the charity Team for Tomorrow ref http sports.espn.go.com espn wire?section oly&id 4761936 ESPN ref and has Osteogenesis imperfecta . ref http 74.125.95.132 search?q cache Y50kPA6cvLwJ www.usahockey.com uploadedFiles USAHockey Menu Team USA Menu Sled National Team SledTeamMediaGuide08.pdf taylor lipsett osteogenesis&cd 12&hl en&ct clnk&gl us 15 USA Hockey ref References Reflist Persondata Metadata see Wikipedia Persondata . NAME Lipsett, Taylor ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH January 20, 1987 PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Lipsett, Taylor Category 1987 births Category Living people Category American ice sledge hockey players Category Southern Methodist University alumni Category Paralympic ice sledge hockey players of the United States Category Ice sledge hockey players at the 2006 Winter Paralympics Category Ice sledge hockey players at the 2010 Winter Paralympics Category Paralympic bronze medalists for the United States Category People with osteogenesis imperfecta US Paralympic medalist stub US icehockey bio stub no Taylor Lipsett ... more details
The Brittle Bone Society is the only UK wide charitable organization charity dedicated to providing support to people affected by osteogenesis Imperfecta OI . Background The Brittle Bone Society was established in 1968 in Dundee by Margaret Grant, who has OI. When she was young Margaret was aware that there virtually no support for people with OI and that many medical professionals knew little or nothing about the condition. When her daughter Yvonne was born some years later very little had changed. For many years Margaret was the driving force of the Brittle Bone Society, which was recognised when she was awarded an MBE in 1989. The Society now has more than 1,000 members and works closely with specialist medical units and other professionals throughout the UK. Its current chief executive is Patricia Osborne. External links http www.brittlebone.org Official site Category Health charities in the United Kingdom Category Medical and health organizations by medical condition UK charity stub ... more details
PBB geneid 1278 Collagen alpha 2 I chain is a protein that in humans is encoded by the COL1A2 gene . ref name pmid3857213 cite journal author Retief E, Parker MI, Retief AE title Regional chromosome mapping of human collagen genes alpha 2 I and alpha 1 I COLIA2 and COLIA1 journal Hum Genet volume 69 issue 4 pages 304 8 year 1985 month May pmid 3857213 pmc doi 10.1007 BF00291646 ref ref name pmid2897363 cite journal author Wenstrup RJ, Cohn DH, Cohen T, Byers PH title Arginine for glycine substitution in the triple helical domain of the products of one alpha 2 I collagen allele COL1A2 produces the osteogenesis imperfecta type IV phenotype journal J Biol Chem volume 263 issue 16 pages 7734 40 year 1988 month Jun pmid 2897363 pmc doi ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta , Ehlers Danlos syndrome , idiopathic osteoporosis, and atypical Marfan syndrome . Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha 1 type I collagen since alpha 2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes. ref cite web title Entrez Gene COL1A2 collagen, type I, alpha 2 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 1278 accessdate ref See also Type I collagen Collagen References Reflist External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part oi GeneReviews NCBI NIH UW entry on Osteogenesis Imperfecta Further reading Refbegin 2 PBB Further reading citations Cite journal author Byers PH, Wallis GA, Willing MC title Osteogenesis imperfecta translation of mutation to phenotype journa ... more details
Notching of the ribs or rib notching is a radiological finding where the surface of the rib is deformed. It can be characterized as unilateral or bilateral. It can also be characterized as affecting the upper or lower surface of the rib.It can be at the superior and inferior border of the ribs. Inferior rib notching can be associated with aortic coarctation as a result of dilatation of intercostal arteries ref http www.learningradiology.com archives04 COW 20128 Coarctation coarctcorrect.htm LearningRadiology.com Coarctation Of the Aorta Retrieved August 2010 ref , superior vena caval obstruction , arteriovenous fistula , or following a Blalock Taussig shunt . ref name urlMedcyclopaedia Rib notching cite web url http www.medcyclopaedia.com library topics volume vii r rib notching.aspx title Medcyclopaedia Rib notching format work accessdate 2010 04 15 ref Some causes of superior rib notching are poliomyelitis, osteogenesis imperfecta, neurofibromatosis, Marfan s syndrome, collagen vascular disease & hyperparathyroidism. References reflist Category Radiologic signs medicine stub pl Uzury ... more details
A triangular face , in the simplest sense, is a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards. It is not necessarily caused by any disease, but is common in individuals with osteogenesis imperfecta . ref name agabegi2nd82 Page 82 in cite book author Elizabeth D Agabegi Agabegi, Steven S. title Step Up to Medicine Step Up Series publisher Lippincott Williams & Wilkins location Hagerstwon, MD year 2008 pages isbn 0 7817 7153 6 oclc doi accessdate ref In a broader sense, triangular face encompasses a constellation of a hypoplastic face with prominent zygomatic arch es, orbital hypertelorism , sunken cheeks, down turned mouth , and occasionally brownish facial discolouration . ref name segen This constellation is characteristic of Mulibrey nanism , but has also been described in Russell Silver syndrome and Turner syndrome . ref name segen http medical dictionary.thefreedictionary.com Triangular Face TheFreeDictionary.com Triangular Face citing Segen s Medical Dictionary. Copyright 2011 ref References reflist Category Facial features ... more details
Infobox Disease Name Dentinogenesis imperfecta Image 1471 2350 8 52 2 l.jpg Caption DiseasesDB ICD10 ICD10 K 00 5 k 00 ICD9 ICD9 520.5 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D003811 Dentinogenesis imperfecta hereditary Opalescent Dentin is a genetic disorder of tooth development . This condition causes teeth to be discolored most often a blue gray or yellow brown color and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary baby teeth and permanent teeth. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. Types Types of dentinogenesis imperfecta with similar dental formalities usually an autosomal dominant trait with variable expressivity but can be recessive if the associated osteogenesis imperfecta is of recessive type. This is type l. Type II Occurs in people without other inherited disorders i.e. Osteogenesis imperfecta .It is an autosomal dominant trait. A few families with type II have progressive hearing loss in addition to dental abnormalities. Mutations in the DSPP gene have been identified in people with type II and type III dentinogenesis imperfecta. Type I occurs as part of osteogenesis imperfecta. Clinical features Clinical appearance is variable. However, the teeth usually involved and more severely affected are deciduous teeth in type 1 whereas in type 2 both the dentitions are equally affected. The teeth may be gray to yellowish brown. They exhibit translucent or opalescent hue. Enamel is usually lost early due to loss of scalloping at the Dental enamel junction DEJ . However, the teeth are not more susceptible to dental caries than normal ones. Radiographic features Type I and II show total obliteration of the pulp chamber. Type III shows thin dentin and extremely enormo ... more details
and LEPRE1 mutations in recessive osteogenesis imperfecta journal Hum. Mutat. volume 29 issue 12 ... mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. journal Cell Tissue ... recessive osteogenesis imperfecta. journal Cell volume 127 issue 2 pages 291 304 year 2006 pmid ... A, et al. title Mutation and polymorphism spectrum in osteogenesis imperfecta type II implications ..., Nesbitt IM, Nikkels PG, et al. title CRTAP mutations in lethal and severe osteogenesis imperfecta ... more details
diagnosis of Brittle Bone Disease osteogenesis imperfecta ref Glorieux FH, Osteogenesis Imperfecta ... may also be seen in Pyknodysostosis Osteogenesis Imperfecta Rickets Kinky hair Menke s syndrome Cleidocranial ... more details
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