5,503 results match your criteria Osteogenesis Imperfecta


Characterization of PPIB interaction in the P3H1 ternary complex and implications for its pathological mutations.

Cell Mol Life Sci 2019 Apr 16. Epub 2019 Apr 16.

Department of Pathophysiology, Shanghai Tongren Hospital/Faculty of Basic Medicine, Hongqiao International Institute of Medicine; Key Laboratory of Cell Differentiation and Apoptosis of the Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

The P3H1/CRTAP/PPIB complex is essential for prolyl 3-hydroxylation and folding of procollagens in the endoplasmic reticulum (ER). Deficiency in any component of this ternary complex is associated with the misfolding of collagen and the onset of osteogenesis imperfecta. However, little structure information is available about how this ternary complex is assembled and retained in the ER. Read More

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http://dx.doi.org/10.1007/s00018-019-03102-8DOI Listing
April 2019
1 Read

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

BDJ Open 2019 11;5. Epub 2019 Apr 11.

2University of the Western Cape/University of Cape Town Collaborative Dental Genetics Clinic, Red Cross Children's Hospital, Cape Town, South Africa.

Background: The maxillofacial and dental manifestations of Osteogenesis imperfecta (OI) have significant implications in terms of management. Although the occurrence of abnormal dentine in some forms of OI is well documented, there is scant information on the association of abnormal dentine in the Black African persons with phenotypic OI III and genotypic OI XI in South Africa.

Methods: This was a cross-sectional analytic study. Read More

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http://dx.doi.org/10.1038/s41405-019-0014-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459848PMC

Limb lengthening and deformity correction in children with abnormal bone.

Injury 2019 Apr 8. Epub 2019 Apr 8.

Russian Ilizarov Scientific Centre for Restorative Traumatology and Orthopaedics, 6, M. Ulyanova Street, 640014, Kurgan, Russian Federation. Electronic address:

Flexible intramedullary nailing (FIN) provides multiple advantages in limb lengthening and progressive deformity correction in combination with external fixation. The article presents brief literature review and authors' experience in limb lengthening of abnormal bone (Ollier's disease, fibrous dysplasia, osteogenesis imperfecta). Titanium and, especially, hydroxyapatite-coated bent elastic nails in combination with external fixator are appropriate in limb lengthening of abnormal bone in children. Read More

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http://dx.doi.org/10.1016/j.injury.2019.03.045DOI Listing

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Clin Dysmorphol 2019 Apr 10. Epub 2019 Apr 10.

Department of Paediatrics, KK Women's and Children's Hospital.

Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1 and COL1A2, variants in noncollagen genes have been identified in the remaining cases. The recurring heterozygous variant in IFITM5 (c. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000279DOI Listing
April 2019
1 Read

Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both and , Coexisting With Pituitary Stalk Interruption Syndrome.

Front Endocrinol (Lausanne) 2019 28;10:193. Epub 2019 Mar 28.

Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, China.

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome (PSIS) is usually associated with environmental and hereditary factors. Here, we report a rare case of OI and PSIS co-occurrence. Read More

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http://dx.doi.org/10.3389/fendo.2019.00193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447649PMC
March 2019
2 Reads

Radiation exposure in adult and pediatric patients with osteogenesis imperfecta.

J Orthop 2019 Jul-Aug;16(4):320-324. Epub 2019 Mar 22.

University of Tennessee, Campbell Clinic Department of Orthopaedic Surgery, 1211 Union Avenue, Suite 510, Memphis, TN, 38104, USA.

Diagnostic radiographs, computed tomography (CT), nuclear medicine studies, and intraoperative fluoroscopy durations were analyzed for radiation exposure. Cumulative and yearly effective ionizing radiation doses, cumulative background radiation, and total radiograph studies were compared between pediatric and adult populations. In 24 patients with 1,246 imaging studies (average 5. Read More

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http://dx.doi.org/10.1016/j.jor.2019.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441714PMC

Dentinogenesis Imperfecta Type II in Children: A Scoping Review.

J Clin Pediatr Dent 2019 Apr 9. Epub 2019 Apr 9.

Dentinogenesis Imperfecta type II (DI2), also known as hereditary opalescent dentin, is one of the most common genetic disorders affecting the structure of dentin, not related with osteogenesis imperfecta, which involves both primary and permanent dentitions. The purpose of this article is to perform a scoping review of the published peer-reviewed literature (1986-2017) on DI2 management in children and to outline the most relevant clinical findings extracted from this review. Forty four articles were included in the present scoping review. Read More

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http://dx.doi.org/10.17796/1053-4625-43.3.1DOI Listing
April 2019
4 Reads

A novel missense mutation in causes mild osteogenesis imperfecta.

Biosci Rep 2019 Apr 4. Epub 2019 Apr 4.

Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

Osteogenesis imperfecta (OI) is a rare heritable bone disorder characterized by low bone mineral density (BMD), recurrent bone fractures and progressive bone deformities. encodes protein disulfide isomerase (PDI) and is identified as a novel candidate gene of OI. The purposes of this study are to detect pathogenic mutation, to evaluate the phenotypes of a Chinese family with mild OI and to investigate the effects of bisphosphonates on bone of the proband. Read More

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http://bioscirep.org/lookup/doi/10.1042/BSR20182118
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http://dx.doi.org/10.1042/BSR20182118DOI Listing
April 2019
3 Reads

A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).

Fetal Pediatr Pathol 2019 Apr 3:1-9. Epub 2019 Apr 3.

a Pathology Department , University of Illinois at Chicago , Chicago , IL , USA.

Background: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations in the COL1A1 or COL1A2 genes, inherited in an autosomal dominant manner.

Case Report: A fetal form of this disorder that included brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and narrow thoracic cavity is described. Read More

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http://dx.doi.org/10.1080/15513815.2019.1579877DOI Listing
April 2019
4 Reads

Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases.

Paediatr Drugs 2019 Apr 3. Epub 2019 Apr 3.

Children's and Adolescent's Hospital, University of Cologne, Cologne, Germany.

Increasing knowledge in the field of rare diseases has led to new therapeutic approaches in the last decade. Treatment strategies have been developed after elucidation of the underlying genetic alterations and pathophysiology of certain diseases (e.g. Read More

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http://link.springer.com/10.1007/s40272-019-00330-0
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http://dx.doi.org/10.1007/s40272-019-00330-0DOI Listing
April 2019
7 Reads

Neurosurgical Implications of Osteogenesis Imperfecta in a Child after Fall: Case Illustration.

J Pediatr Neurosci 2018 Oct-Dec;13(4):459-461

University of Cartagena, Cartagena de Indias, Colombia.

Osteogenesis imperfecta (OI) is a group of hereditary genetic pathologies of connective tissue, which is characterized by bone fragility and fractures. It is classified into types I, II, III, IV, V, and VI. The disorder is caused by an autosomal-dominant mutation in one of the two genes that encode the alpha chains of type I collagen, COL1A1 and COL1A2. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/4/459
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http://dx.doi.org/10.4103/JPN.JPN_9_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413607PMC
April 2019
6 Reads

Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.

Eur J Hum Genet 2019 Mar 27. Epub 2019 Mar 27.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

The Boost Brittle Bones Before Birth (BOOSTB4) clinical trial is investigating the safety and efficacy of transplanting fetal derived mesenchymal stromal cells (MSCs) prenatally and/or in early postnatal life to treat severe Osteogenesis Imperfecta (OI). This study aimed to explore stakeholder views to understand perceived benefits or concerns, identify ethical issues and establish protocols for support and counselling. Semi-structured qualitative interviews were conducted with three groups; 1. Read More

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http://www.nature.com/articles/s41431-019-0387-4
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http://dx.doi.org/10.1038/s41431-019-0387-4DOI Listing
March 2019
1 Read

Mobility in osteogenesis imperfecta: a multicenter North American study.

Genet Med 2019 Mar 28. Epub 2019 Mar 28.

Orthopaedic Rehabilitation and Engineering Center, Marquette University, Milwaukee, WI, USA.

Purpose: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder that causes bone fragility. Phenotypic severity influences ability to walk, however, little is known about ambulatory characteristics of individuals with OI, especially in more severe forms. The purpose of this work was to characterize mobility in OI using standard clinical assessment tools and determine if patient characteristics could be used to predict mobility outcomes. Read More

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http://dx.doi.org/10.1038/s41436-019-0491-4DOI Listing
March 2019
2 Reads

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.

Endocr Pract 2019 Mar;25(3):230-241

Objective: Osteogenesis imperfecta (OI) is a group of heritable fragile bone diseases, and the majority are caused by pathogenic variants in the COL1A1 and COL1A2 genes. We sought to identify the genetic causes and phenotypes of OI in Chinese patients without COL1A1 or COL1A2 mutations.

Methods: Twenty-three patients who were diagnosed with sporadic OI but did not carry COL1A1/2 mutations were recruited, and their genomic DNA was analyzed using targeted next-generation sequencing of rare OI-related genes. Read More

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http://dx.doi.org/10.4158/EP-2018-0443DOI Listing
March 2019
1 Read

Development of the Good2Go MyHealth Passport for individuals with Osteogenesis Imperfecta: A knowledge-synthesis study.

Int J Orthop Trauma Nurs 2018 Dec 5. Epub 2018 Dec 5.

McGill University, Ingram School of Nursing, 680 Sherbrooke Street West, Suite 1800, Montreal, Quebec, H3A 2M7, Canada; Shriners Hospitals for Children®-Canada, 1003 Decarie Blvd, Montreal, QC, H4A 0A9, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18781241183009
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http://dx.doi.org/10.1016/j.ijotn.2018.11.005DOI Listing
December 2018
3 Reads

Fetal stem cell transplantation and gene therapy.

Best Pract Res Clin Obstet Gynaecol 2019 Mar 5. Epub 2019 Mar 5.

Department of Clinical Science, Intervention and Technology, K57, Division of Obstetrics and Gynecology, Karolinska University Hospital, Huddinge Karolinska Institutet, Stockholm, Sweden. Electronic address:

The present chapter summarizes our current knowledge on fetal stem cell and gene therapy. It focuses on these therapeutic alternatives in regard to past experiences and ongoing and planned studies in humans. Several methodological challenges are discussed that may have wide implications on how these methods could be introduced in clinical practices. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15216934183024
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http://dx.doi.org/10.1016/j.bpobgyn.2019.02.007DOI Listing
March 2019
7 Reads

Compromised Exercise Capacity and Mitochondrial Dysfunction in the Osteogenesis Imperfecta Murine (oim) Mouse Model.

J Bone Miner Res 2019 Mar 25. Epub 2019 Mar 25.

Department of Biochemistry, University of Missouri, Columbia, Missouri.

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often arises from type I collagen, COL1A1 and COL1A2, gene defects leading to skeletal fragility, short stature, blue-gray sclera, and muscle weakness. Relative to the skeletal fragility, muscle weakness is much less understood. Recent investigations into OI muscle weakness in both patients and mouse models have revealed the presence of an inherent muscle pathology. Read More

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http://dx.doi.org/10.1002/jbmr.3732DOI Listing
March 2019
2 Reads

Increased Rates of Vitamin D Insufficiency in Boys With Duchenne Muscular Dystrophy Despite Higher Vitamin D Supplementation.

Glob Pediatr Health 2019 15;6:2333794X19835661. Epub 2019 Mar 15.

The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Vitamin D supplementation is important for many chronic pediatric conditions to help maintain bone health; however, there is little evidence about how disease-related factors affect vitamin D status. The objective was to compare 25-hydroxyvitamin D (25(OH)D) concentrations in 3 pediatric cohorts (Duchenne muscular dystrophy [DMD], systemic lupus erythematosus [SLE], and osteogenesis imperfecta [OI]). In a retrospective study of 367 subjects, children with DMD had increased prevalence of vitamin D insufficiency (25% vs 14% [SLE] and 10% [OI], = . Read More

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http://dx.doi.org/10.1177/2333794X19835661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421611PMC
March 2019
1 Read

Deficiency of lysyl hydroxylase 2 in mice causes systemic endoplasmic reticulum stress leading to early embryonic lethality.

Biochem Biophys Res Commun 2019 May 21;512(3):486-491. Epub 2019 Mar 21.

Department of Dentistry and Oral-Maxillofacial Surgery, Chiba University Hospital, Chiba, Japan; Department of Oral Science, Graduate School of Medicine, Chiba University, Chiba, Japan.

Lysyl hydroxylase 2 (LH2) is an endoplasmic reticulum (ER)-resident enzyme that catalyzes the hydroxylation of lysine residues in the telopeptides of fibrillar collagens. This is a critical modification to determine the fate of collagen cross-linking pathway that contributes to the stability of collagen fibrils. Studies have demonstrated that the aberrant LH2 function causes various diseases including osteogenesis imperfecta, fibrosis, and cancer metastasis. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.03.091DOI Listing

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Am J Med Genet A 2019 Mar 21. Epub 2019 Mar 21.

Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal recessive (AR) forms are being identified, which are caused by defects in genes involved in collagen metabolism, bone mineralization, or osteoblast differentiation. Bi-allelic mutations in WNT1 have been associated with a rare form of AR OI, characterized by severe osteoporosis, vertebral compression, scoliosis, fractures, short stature, and variable neurological problems. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61119
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http://dx.doi.org/10.1002/ajmg.a.61119DOI Listing
March 2019
15 Reads
2.159 Impact Factor

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.

Eur J Hum Genet 2019 Mar 18. Epub 2019 Mar 18.

Department of Medical Genetics and Rare Orthopaedic Diseases, and CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI types I-IV was evaluated. The study population was composed of 262 OI type I, 24 type II, 39 type III, and 39 type IV patients. Read More

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http://dx.doi.org/10.1038/s41431-019-0373-xDOI Listing
March 2019
1 Read

Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta.

Eur Arch Paediatr Dent 2019 Mar 13. Epub 2019 Mar 13.

Consultant Senior Lecturer in Paediatric Dentistry, Bristol Dental Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

Background: Osteogenesis imperfecta (OI) is the most common inherited disorder of bone fragility in children, increasing fracture risk 100-fold and can feature dental and facial bone involvement causing additional morbidities.

Aim: To assess the utilisation of tertiary dental services by children and young people with OI attending a supra-regional multi-disciplinary OI service and review of the pathology identified and interventions undertaken.

Design: Case notes review of the current caseload of children and young people (0-18 years) with OI at a large regional OI specialist centre (n = 92). Read More

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http://dx.doi.org/10.1007/s40368-019-00424-wDOI Listing
March 2019
2 Reads

New Insights Into Monogenic Causes of Osteoporosis.

Front Endocrinol (Lausanne) 2019 25;10:70. Epub 2019 Feb 25.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland.

Osteoporosis, characterized by deteriorated bone microarchitecture and low bone mineral density, is a chronic skeletal disease with high worldwide prevalence. Osteoporosis related to aging is the most common form and causes significant morbidity and mortality. Rare, monogenic forms of osteoporosis have their onset usually in childhood or young adulthood and have specific phenotypic features and clinical course depending on the underlying cause. Read More

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http://dx.doi.org/10.3389/fendo.2019.00070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397842PMC
February 2019
4 Reads

Biodegradable polymer promotes osteogenic differentiation in immortalized and primary osteoblast-like cells.

Biomed Mater 2019 Mar 11. Epub 2019 Mar 11.

Chemistry, Middle East Technical University, Chemistry Department,, Middle East Technical University,, Cankaya, Ankara, 06800, TURKEY.

Biodegradable polymers have been broadly used as agents that can complex with and deliver osteoinductive agents, but osteoinductivity of the polymers themselves has been rarely studied. Here we report the osteoinductivity of poly(4-hydroxy-L-proline ester) (PHPE), a biodegradable cationic polymer with cell penetrating properties. Under physiological conditions, PHPE degrades into trans-4-hydroxy-L-proline (trans-Hyp), a non-coded amino acid with essential functions in collagen fibril formation and fibril stability. Read More

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http://dx.doi.org/10.1088/1748-605X/ab0e92DOI Listing
March 2019
3 Reads

Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.

Orthop Clin North Am 2019 Apr;50(2):193-209

Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Read More

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http://dx.doi.org/10.1016/j.ocl.2018.10.003DOI Listing
April 2019
4 Reads

Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review.

J Child Orthop 2019 Feb;13(1):22-32

Hacettepe University, Faculty of Medicine, Dept of Orthopaedics Ankara, Turkey.

The severity of osteogenesis imperfecta (OI), the associated reduced quality and quantity of collagen type I, the degree of bone fragility, ligamentous laxity, vertebral fractures and multilevel vertebral deformities all impair the mechanical integrity of the whole spinal architecture and relate to the high prevalence of progressive kyphoscoliotic deformities during growth. Bisphosphonate therapy may at best slow down curve progression but does not seem to lower the prevalence of deformities or the incidence of surgery. Brace treatment is problematic due to pre-existing chest wall deformities, stiffness of the curve and the brittleness of the ribs which limit transfer of corrective forces from the brace shell to the spine. Read More

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http://dx.doi.org/10.1302/1863-2548.13.180185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376432PMC
February 2019
1 Read

The orthopaedic management of long bone deformities in genetically and acquired generalized bone weakening conditions.

Authors:
T Wirth

J Child Orthop 2019 Feb;13(1):12-21

Department of Orthopaedics, Klinikum Stuttgart, Olgahospital, Stuttgart, Germany.

Purpose: Diseases such as osteogenesis imperfecta, fibrous dysplasia, hypophosphataemic rickets and others lead to soft and weak bones and long bone deformity in affected patients. As a consequence, these patients lose their walking capacity and functional abilities of the upper extremities as well.

Methods: In combination with bisphosphonate treatment and physical rehabilitation programmes surgical interventions are being applied to correct and stabilize the deformed and less mechanically resistant long bones. Read More

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http://dx.doi.org/10.1302/1863-2548.13.180184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376434PMC
February 2019
2 Reads

Current concepts in osteogenesis imperfecta: bone structure, biomechanics and medical management.

J Child Orthop 2019 Feb;13(1):1-11

Department of Orthopaedic Surgery, University Medical Centre Utrecht, Wilhelmina Children's Hospital, The Netherlands.

The majority of patients with osteogenesis imperfecta (OI) have mutations in the COL1A1 or COL1A2 gene, which has consequences for the composition of the bone matrix and bone architecture. The mutations result in overmodified collagen molecules, thinner collagen fibres and hypermineralization of bone tissue at a bone matrix level. Trabecular bone in OI is characterized by a lower trabecular number and connectivity as well as a lower trabecular thickness and volumetric bone mass. Read More

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http://dx.doi.org/10.1302/1863-2548.13.180190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376438PMC
February 2019
5 Reads

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.

Mol Genet Genomic Med 2019 Mar 4:e619. Epub 2019 Mar 4.

Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.

Background: Osteogenesis imperfecta (OI), a genetically determined connective tissue disorder, is characterized by increased bone fragility and reduced bone mass. Clinical presentation severity ranges from very mild types with nearly no fractures to intrauterine fractures and perinatal lethality. It can be accompanied by blue sclerae, dentinogenesis imperfecta (DI), hearing loss, muscle weakness, ligament laxity, and skin fragility. Read More

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http://dx.doi.org/10.1002/mgg3.619DOI Listing
March 2019
1 Read

Stress, Depression, and Quality of Life Among Caregivers of Children With Osteogenesis Imperfecta.

J Pediatr Health Care 2019 Mar 1. Epub 2019 Mar 1.

Introduction: The purpose of this study was to evaluate stress, depressive symptoms, and quality of life (QOL) among caregivers of children with osteogenesis imperfecta (OI) and to determine if associations exist with patient disease-related characteristics.

Methods: Psychosocial outcomes were evaluated in 33 caregivers of 31 patients with OI using the Pediatric Inventory for Parents (assessing stress), PedsQL Family Impact Module (assessing QOL), and Center for Epidemiologic Studies Depression Scale (assessing depressive symptoms).

Results: Higher levels of patient pain and lower patient physical functioning were significantly associated with both higher caregiver stress and poorer QOL (p < . Read More

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http://dx.doi.org/10.1016/j.pedhc.2018.12.003DOI Listing
March 2019
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Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls.

Injury 2019 Feb 15. Epub 2019 Feb 15.

Department of Anatomical, Histological, Forensic Medicine and Orthopaedic Science, Sapienza University of Rome, Department of Orthopaedics and Traumatology - Policlinico Umberto I Rome, Italy.

Introduction: Patients with Osteogenesis Imperfecta (OI) Type 3 may exhibit both primitive deformities and secondary fracture malunions on a femoral level. The orthopaedic surgeon's objective is to cure the deformities in order to prevent fractures and to treat the fractures in order to prevent deformities, by using telescopic nails as the gold standard method of fixation. However, the titanium elastic nail (TEN) is indicated as a possible alternative in certain selected cases. Read More

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http://dx.doi.org/10.1016/j.injury.2019.01.045DOI Listing
February 2019
2 Reads

Steady-State and Pulse-Chase Analyses of Fibrillar Collagen.

Methods Mol Biol 2019 ;1952:45-53

Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Steady-state and pulse-chase collagen analyses are powerful approaches to investigate in vitro the structure of collagen and its kinetic of secretion, respectively. The electrophoretic analysis of purified H-proline-labeled collagen allows to determine the nature and post translational modifications of its α chains, whereas short-pulse labeling can be used to follow collagen secretion over time. Read More

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http://link.springer.com/10.1007/978-1-4939-9133-4_4
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http://dx.doi.org/10.1007/978-1-4939-9133-4_4DOI Listing
January 2019
9 Reads

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

Am J Med Genet A 2019 May 1;179(5):846-851. Epub 2019 Mar 1.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

Cardiac valvular Ehlers-Danlos syndrome (EDS) is a rare EDS subtype, caused by specific recessive variants in the gene encoding pro-α2-chain of type I collagen (COL1A2). Cardiac valvular EDS is mainly characterized by generalized/peripheral joint hypermobility, moderate-severe cardiac valvular disease, skin hyperextensibility and other minor soft tissues features. Only five molecularly confirmed patients have been reported to date. Read More

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http://dx.doi.org/10.1002/ajmg.a.61100DOI Listing
May 2019
4 Reads

Categorization of the Usage of Adjunctive Structural Allograft Bone Graft in Extremity Surgery for Patients with Osteogenesis Imperfecta.

J Long Term Eff Med Implants 2018 ;28(3):205-208

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

Structural allograft bone plays a role in orthopedic surgery. Our purpose is to describe the methods of using structural allograft in extremity reconstruction surgery in patients with osteogenesis imperfecta (OI) and create a classification of usage with a single-center review of OI extremity cases from January 2002 to February 2017. Structural allograft was used in 19 bone segments in 15 patients with type III OI. Read More

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http://dx.doi.org/10.1615/JLongTermEffMedImplants.2018028895DOI Listing
January 2018
1 Read

Bladder and bowel symptoms experienced by children with osteogenesis imperfecta.

J Pediatr (Rio J) 2019 Feb 22. Epub 2019 Feb 22.

Ingram School of Nursing, Faculty of Medicine, McGill University, Montreal, Canada; Shriners Hospital for Children, Montreal, Canada.

Objective: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children with osteogenesis imperfecta and to describe the socio-demographic and clinical profile of these children.

Method: A descriptive study was conducted with a convenience sample of parent-child pairs of toilet-trained children aged from 3 to 18 years. Pairs were interviewed using three tools: (1) Socio-Demographic and Clinical Questionnaire; (2) Dysfunctional Voiding Scoring System; (3) Rome III Criteria along with the Bristol Stool Scale. Read More

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http://dx.doi.org/10.1016/j.jped.2018.12.008DOI Listing
February 2019
3 Reads

Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves.

Mamm Genome 2019 Feb 20. Epub 2019 Feb 20.

School of Veterinary Medicine and Biomedical Sciences, University of Nebraska-Lincoln, Lincoln, NE, 68583-0905, USA.

A genetic disorder, osteogenesis imperfecta (OI) is broadly characterized by connective tissue abnormalities and bone fragility most commonly attributed to alterations in Type I collagen. Two Red Angus calves by the same sire presented with severe bone and dental fragility, blue sclera, and evidence of in utero fractures consistent with OI congenita. Comparative analyses with human cases suggested the OI in these calves most closely resembled that classified as OI Type II. Read More

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http://dx.doi.org/10.1007/s00335-019-09794-4DOI Listing
February 2019

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Am J Hum Genet 2019 Mar 14;104(3):422-438. Epub 2019 Feb 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408318PMC
March 2019
3 Reads
10.931 Impact Factor

Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study.

Spec Care Dentist 2019 Mar 13;39(2):214-219. Epub 2019 Feb 13.

Faculty of Dentistry, McGill University, Montreal, Quebec, Canada.

Objective: Dentinogenesis Imperfecta (DI) forms a group of dental abnormalities frequently found associated with Osteogenesis Imperfecta (OI), a hereditary disease characterized by bone fragility. The objectives of this study were to quantify the dental caries prevalence and experience among different OI-types in the sample population and quantify how much these values change for the subset with DI.

Methods: To determine which clinical characteristics were associated with increased Caries Prevalence and Experience (CPE) in patients with OI, the adjusted DFT scores were used to account for frequent hypodontia, impacted teeth and retained teeth in OI population. Read More

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http://doi.wiley.com/10.1111/scd.12368
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http://dx.doi.org/10.1111/scd.12368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402806PMC
March 2019
12 Reads

The management of osteogenesis imperfecta in adults: state of the art.

Joint Bone Spine 2019 Feb 8. Epub 2019 Feb 8.

Service de médecine physique et de rééducation, 42270 Saint-Priest-en-Jarez, France.

Osteogenesis imperfecta (OI) is a genetic disease whose clinical phenotype and severity vary considerably. The increased risk of fractures due to bone fragility persists in adulthood, notably after 40 years of age, albeit at a lower level than during growth. Adults with OI require periodic evaluations of the other manifestations of OI including hearing loss, respiratory impairments, ocular and dental abnormalities, and cardiovascular disease. Read More

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http://dx.doi.org/10.1016/j.jbspin.2019.02.001DOI Listing
February 2019
8 Reads

Hemiarthroplasty of the Hip in a 52-Year-old Patient with Osteogenesis Imperfecta-Related Femoral Neck Fracture: A Case Report.

J Orthop Case Rep 2018 Sep-Oct;8(5):86-88

Department of Orthopedics and Trauma, CHUV Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, 1011 Lausanne, Switzerland.

Introduction: Osteogenesis imperfecta (OI)-related femoral neck fractures are rare. This is rarely described in the literature. This article presents a way to surgically treat such a fracture. Read More

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http://dx.doi.org/10.13107/jocr.2250-0685.1226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367281PMC
February 2019
2 Reads

SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants.

J Bone Miner Res 2019 Feb 5. Epub 2019 Feb 5.

The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.

PLOD genes encode for procollagen lysyl hydroxylase enzymes (LH/PLOD), a family of proteins essential for collagen biosynthesis. Several mutations affect these genes, causing severe disorders, such as Ehlers-Danlos and Bruck syndrome, as well a connective tissue disease with phenotype resembling osteogenesis imperfecta caused by lack of LH3 functions. The recently determined three-dimensional (3D) structures of the full-length human LH3/PLOD3 isoform, together with the structure of a fragment of a viral LH/PLOD homolog, are now allowing molecular mapping of the numerous disease-causing mutations, providing insights often suitable for the interpretation of the resulting disease phenotypes. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jbmr.3692
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http://dx.doi.org/10.1002/jbmr.3692DOI Listing
February 2019
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Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view.

J Pediatr Orthop B 2019 Jan 31. Epub 2019 Jan 31.

St Catherine Specialty Hospital.

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones. It is our aim to illustrate variability in clinical presentation of severe form of OI. As an example of personalized surgery approach we present an 11-year-old girl with OI type III. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000598DOI Listing
January 2019

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Hum Mutat 2019 May 25;40(5):588-600. Epub 2019 Feb 25.

Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.

Osteogenesis imperfecta (OI) is a rare hereditary skeletal dysplasia, characterized by recurrent fractures and bone deformity. This study presents a clinical characterization and mutation analysis of 668 patients, aiming to establish the mutation spectrum and to elucidate genotype-phenotype correlations in Chinese OI patients. We identified 274 sequence variants (230 in type I collagen encoding genes and 44 in noncollagen genes), including 102 novel variants, in 340 probands with a detection rate of 90%. Read More

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http://dx.doi.org/10.1002/humu.23718DOI Listing
May 2019
7 Reads
5.144 Impact Factor

A case of broken bones and systems: The threat of irresponsible testimony.

Authors:
Natasha Shur

Am J Med Genet A 2019 Mar 29;179(3):429-434. Epub 2019 Jan 29.

Division of Genetics, Children's National Medical Center, Washington, District of Columbia.

A 2-month-old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work-up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Read More

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http://doi.wiley.com/10.1002/ajmg.a.61043
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http://dx.doi.org/10.1002/ajmg.a.61043DOI Listing
March 2019
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Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.

Orphanet J Rare Dis 2019 01 29;14(1):23. Epub 2019 Jan 29.

College of Medicine, University of South Florida, Tampa, Florida, USA.

Background: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers. Read More

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http://dx.doi.org/10.1186/s13023-019-1004-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350324PMC
January 2019
1 Read

Supraglottic Airway Rescue After Failed Fiberoptic Intubation in a Patient With Osteogenesis Imperfecta: A Case Report.

A A Pract 2019 Jan 28. Epub 2019 Jan 28.

Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, California.

We describe the management of a pregnant patient with osteogenesis imperfecta with a history of numerous fractures, severe scoliosis, and anticipated difficult airway. Her pregnancy was complicated by progressive shortness of breath and a fetal diagnosis of osteogenesis imperfecta. Spine anatomy precluded neuraxial anesthesia. Read More

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http://dx.doi.org/10.1213/XAA.0000000000000968DOI Listing
January 2019
2 Reads

WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

J Hum Genet 2019 Apr 28;64(4):291-296. Epub 2019 Jan 28.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Read More

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http://www.nature.com/articles/s10038-019-0565-9
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http://dx.doi.org/10.1038/s10038-019-0565-9DOI Listing
April 2019
15 Reads

Skeletal open bite with amelogenesis imperfecta treated with compression osteogenesis: a case report.

Head Face Med 2019 Jan 28;15(1). Epub 2019 Jan 28.

Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8504, Japan.

Background: We successfully treated a 37-year-old male who had skeletal open bite with severe amelogenesis imperfecta (AI) with orthodontics, compression osteogenesis, and prosthodontics.

Case Presentation: The patient was diagnosed with severe anterior open bite caused by severe AI. Corticotomy was performed on both buccal and palatal sides of the molar regions, and anchor plates were placed onto the bilateral zygomatic buttress and the center of the hard palate. Read More

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http://dx.doi.org/10.1186/s13005-019-0187-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348607PMC
January 2019

Mesenchymal Cell-Derived Juxtacrine Wnt1 Signaling Regulates Osteoblast Activity and Osteoclast Differentiation.

J Bone Miner Res 2019 Jan 28:e3680. Epub 2019 Jan 28.

Institute of Biomedicine, University of Turku, Turku, Finland.

Human genetic evidence demonstrates that WNT1 mutations cause osteogenesis imperfecta (OI) and early-onset osteoporosis, implicating WNT1 as a major regulator of bone metabolism. However, its main cellular source and mechanisms of action in bone remain elusive. We generated global and limb bud mesenchymal cell-targeted deletion of Wnt1 in mice. Read More

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http://dx.doi.org/10.1002/jbmr.3680DOI Listing
January 2019
3 Reads