5,462 results match your criteria Osteogenesis Imperfecta


Animal models of osteogenesis imperfecta: applications in clinical research.

Orthop Res Rev 2016 27;8:41-55. Epub 2016 Sep 27.

Department of Biomedical Engineering, Florida Institute of Technology, Melbourne, FL, USA,

Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a genetic disease characterized by extreme bone fragility and consequent skeletal deformities. This connective tissue disorder is caused by mutations in the quality and quantity of the collagen that in turn affect the overall mechanical integrity of the bone, increasing its vulnerability to fracture. Animal models of the disease have played a critical role in the understanding of the pathology and causes of OI and in the investigation of a broad range of clinical therapies for the disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/ORR.S85198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209373PMC
September 2016

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

Am J Hum Genet 2019 Feb 11. Epub 2019 Feb 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.007DOI Listing
February 2019

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

Spec Care Dentist 2019 Feb 13. 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/scd.12368
Publisher Site
http://dx.doi.org/10.1111/scd.12368DOI Listing
February 2019
4 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2019.02.001DOI Listing
February 2019
1 Read

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

View Article

Download full-text PDF

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

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, Via Ferrata 9/A, 27100 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 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

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/jbmr.3692
Publisher Site
http://dx.doi.org/10.1002/jbmr.3692DOI Listing
February 2019
2 Reads

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

View Article

Download full-text PDF

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

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Hum Mutat 2019 Feb 4. Epub 2019 Feb 4.

Department of Medical Genetics, 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 non-collagen genes), including 102 novel variants, in 340 probands with a detection rate of 90%. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23718DOI Listing
February 2019
2 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.61043
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61043DOI Listing
March 2019
3 Reads

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 Jan 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1213/XAA.0000000000000968DOI Listing
January 2019
1 Read

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

J Hum Genet 2019 Jan 28. 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

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s10038-019-0565-9
Publisher Site
http://dx.doi.org/10.1038/s10038-019-0565-9DOI Listing
January 2019
4 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

View Article

Download full-text PDF

Source
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. 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

View Article

Download full-text PDF

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

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Bone 2019 Jan 23;121:191-195. Epub 2019 Jan 23.

Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Osteogenesis imperfecta (OI) is the commonest form of heritable bone fragility. It is mainly characterized by fractures, hearing loss and dentinogenesis imperfecta. OI patients are at increased risk of cardiovascular disease of variable severity. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.01.022DOI Listing
January 2019

De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta.

Mol Genet Genomic Med 2019 Jan 24:e559. Epub 2019 Jan 24.

Department of Traumatology and Orthopedics, University of Tartu, Tartu, Estonia.

Background: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen-related OI were investigated.

Methods: A comparative analysis was performed of the genotypes and phenotypes of 146 unrelated inherited and de novo collagen I OI cases from Estonia, Ukraine, and Vietnam. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.559DOI Listing
January 2019

Pregnancy-associated osteoporosis: a UK case series and literature review.

Osteoporos Int 2019 Jan 23. Epub 2019 Jan 23.

Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, Bath, BA1 1RL, UK.

Mini Abstract: Pregnancy-associated osteoporosis (PAO) is a rare syndrome affecting women during late pregnancy and the early postpartum period. We set out to review the clinical features of ten cases of PAO from a single UK centre. Patients had attended the Royal National Hospital for Rheumatic Diseases, Bath (RNHRD) between January 2000 and June 2016. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00198-019-04842-wDOI Listing
January 2019
2 Reads

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Hum Mol Genet 2019 Jan 16. Epub 2019 Jan 16.

Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent 9000, Belgium.

The cyclic adenosine monophosphate (AMP) responsive element binding protein 3-like 1 (CREB3L1) gene codes for the endoplasmic reticulum stress transducer old astrocyte specifically induced substance (OASIS), which has an important role in osteoblast differentiation during bone development. Deficiency of OASIS is linked to a severe form of autosomal recessive osteogenesis imperfecta (OI), but only few patients have been reported. We identified the first homozygous pathogenic missense variant (p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz017DOI Listing
January 2019

Suitability of growth standards for growth monitoring in children with genetic diseases.

Anthropol Anz 2019 Jan 15. Epub 2019 Jan 15.

University of Cologne, Institute of Medical Statistics and Computational Biology, Kerpener Str. 62, 50937 Cologne, Germany.

Growth references are used worldwide. The objective of monitoring growth of apparently healthy children is to identify treatable diseases early. Children with compromised growth, e. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1127/anthranz/2019/0932DOI Listing
January 2019

Osteogenesis Imperfecta: A Need to Understand Divergent Treatment Outcomes in a Disorder Rich in Heterogeneity.

J Bone Miner Res 2019 Feb 15;34(2):205-206. Epub 2019 Jan 15.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3647DOI Listing
February 2019

Osteogenesis Imperfecta: Phenotypic and Intraoperative Findings Observed in Patients Treated Surgically at the World Hearing Centre.

J Int Adv Otol 2018 Dec;14(3):478-483

Institute of Physiology and Pathology of Hearing, World Hearing Center, Warsaw, Poland; Institute of Sensory Organs, Nadarzyn, Poland.

Objectives: Osteogenesis imperfecta (OI) is a systemic connective tissue disease that affects many systems and organs. Features of the disease are bone deformities, blue sclerae, and changes in the teeth, all of which may be accompanied by hearing loss. Bone fragility also affects structures of the ear, with half the patients developing changes in the auditory ossicles, which manifest as hearing loss. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5152/iao.2018.5643DOI Listing
December 2018

Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review.

Disabil Health J 2018 Dec 31. Epub 2018 Dec 31.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

Background: Osteogenesis Imperfecta (OI) is a rare genetic condition whose key characteristic is increased bone fragility. OI has the potential to impact upon all family members, making it important to consider the challenges families face, how they cope and their support needs as the affected individual moves from childhood through to adult life.

Objective: To conduct a mixed-methods systematic review investigating the experiences of families when a family member is affected with OI. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S19366574183025
Publisher Site
http://dx.doi.org/10.1016/j.dhjo.2018.12.003DOI Listing
December 2018
3 Reads

Olecranon Fractures in Pediatric Patients With Osteogenesis Imperfecta.

J Pediatr Orthop 2019 Jan 8. Epub 2019 Jan 8.

Department of Orthopaedic Surgery, Shriners Hospital for Children-Chicago, Chicago, IL.

Background: Osteogenesis imperfecta (OI) is a hereditary disorder characterized by an abnormality of the quality or quantity of type I collagen, leading to bone fragility. Fractures in children with OI may result from minor trauma and have atypical patterns. Previous studies have found a strong relationship between olecranon fractures and OI in pediatric populations, but the characteristics of olecranon fractures within the OI patient population have not been fully described. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001333DOI Listing
January 2019

Outcomes following intravenous bisphosphonate infusion in pediatric patients: A 7-year retrospective chart review.

Bone 2019 Jan 4;121:60-67. Epub 2019 Jan 4.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, United States; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States.

Introduction: Intravenous bisphosphonates (IV BP) have been used to treat children with osteoporosis for many years. Favorable side effect profile and improvements in bone mineral density (BMD) have been demonstrated in patients with osteogenesis imperfecta (OI), a primary form of osteoporosis in pediatrics. Less is known about the safety of IV BP in children with secondary osteoporosis or glucocorticoid-induced osteoporosis (GIO). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.01.003DOI Listing
January 2019
2 Reads

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.

Chin Med J (Engl) 2019 Jan;132(2):145-153

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 100730, China.

Background: Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.

Methods: A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study. Read More

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00029330-201901200-0000
Publisher Site
http://dx.doi.org/10.1097/CM9.0000000000000013DOI Listing
January 2019
1 Read

Pigment epithelium-derived factor (PEDF) reduced expression and synthesis of SOST/sclerostin in bone explant cultures: implication of PEDF-osteocyte gene regulation in vivo.

J Bone Miner Metab 2019 Jan 3. Epub 2019 Jan 3.

Department of Orthopaedics and Rehabilitation H089, Penn State College of Medicine, 500 University Drive, Hershey, PA, 17033, USA.

Mutations in Serpinf1 gene which encodes pigment epithelium-derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective matrix mineralization. We reported previously that PEDF reduced expression and synthesis of Sost/Sclerostin as well as other osteocytes genes encoding proteins that regulate matrix mineralization [1]. To determine whether PEDF had an effect on osteocyte gene expression in bone, we used bone explant cultures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00774-018-0982-4DOI Listing
January 2019
2.460 Impact Factor

Effect of rapamycin on bone mass and strength in the α2(I)-G610C mouse model of osteogenesis imperfecta.

J Cell Mol Med 2019 Mar 30;23(3):1735-1745. Epub 2018 Dec 30.

Orthopaedic Research and Biotechnology Unit, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Osteogenesis imperfecta (OI) is commonly caused by heterozygous type I collagen structural mutations that disturb triple helix folding and integrity. This mutant-containing misfolded collagen accumulates in the endoplasmic reticulum (ER) and induces a form of ER stress associated with negative effects on osteoblast differentiation and maturation. Therapeutic induction of autophagy to degrade the mutant collagens could therefore be useful in ameliorating the ER stress and deleterious downstream consequences. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jcmm.14072DOI Listing

Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study.

Orphanet J Rare Dis 2018 Dec 29;13(1):231. Epub 2018 Dec 29.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Background: Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, and recent data from questionnaire studies suggest that these may include increased risk for sleep apnea, a finding that lacks clinical evidence from cohort studies. In this cross-sectional study, 25 adults with OI underwent clinical otorhinolaryngology examination as well as overnight polysomnography to address the question. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0971-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310950PMC
December 2018
2 Reads

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

Eur J Med Genet 2018 Dec 26. Epub 2018 Dec 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.12.011DOI Listing
December 2018
3 Reads

Fassier-Duval Rods are Associated With Superior Probability of Survival Compared With Static Implants in a Cohort of Children With Osteogenesis Imperfecta Deformities.

J Pediatr Orthop 2018 Dec 26. Epub 2018 Dec 26.

Department of Orthopaedic Surgery, Children's Hospital Colorado, Aurora, CO.

Background: The survival of Fassier-Duval (FD) telescoping rods as compared with static implants in children affected by osteogenesis imperfecta is not well characterized. The purpose of this study was to compare risk of lower extremity implant failure in FD rods versus static implants.

Methods: Data were retrospectively collected from patients with osteogenesis imperfecta who underwent surgical treatment using either FD rods or static implants (Rush rods, flexible nails, or Steinmann pins) between 1995 and 2015. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001324DOI Listing
December 2018
10 Reads

ER-to-Golgi trafficking of procollagen in the absence of large carriers.

J Cell Biol 2018 Dec 26. Epub 2018 Dec 26.

Cell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, UK

Secretion and assembly of collagen are fundamental to the function of the extracellular matrix. Defects in the assembly of a collagen matrix lead to pathologies including fibrosis and osteogenesis imperfecta. Owing to the size of fibril-forming procollagen molecules it is assumed that they are transported from the endoplasmic reticulum to the Golgi in specialized large COPII-dependent carriers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201806035DOI Listing
December 2018
1 Read

A Newborn with Multiple Fractures in Osteogenesis Imperfecta: A Case Report.

J Orthop Case Rep 2018 May-Jun;8(3):71-73

Department of Orthopedic and Traumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

Introduction: Multiple bone fractures in a newborn can be associated with osteogenesis imperfect (OI). OI is a rare genetic disorder that causes Type I collagen synthesis disturbance results in bone fragility.

Case Report: We present a female newborn which had numerous fractures of the humerus, bilateral clavicle, and bilateral femur. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.13107/jocr.2250-0685.1116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298723PMC
December 2018
1 Read

Endoplasmic reticulum stress is induced in growth plate hypertrophic chondrocytes in G610C mouse model of osteogenesis imperfecta.

Biochem Biophys Res Commun 2019 Jan 20;509(1):235-240. Epub 2018 Dec 20.

Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD, 21201, USA; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, 43205, USA. Electronic address:

Osteogenesis imperfecta (OI) is a hereditary bone disorder most commonly caused by autosomal dominant mutations in genes encoding type I collagen. In addition to bone fragility, patients suffer from impaired longitudinal bone growth. It has been demonstrated that in OI, an accumulation of mutated type I collagen in the endoplasmic reticulum (ER) induces ER stress in osteoblasts, causing osteoblast dysfunction leading to bone fragility. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2018.12.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370306PMC
January 2019

Bone dysplasias in 1.6 million births in Argentina.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

National Network of Congenital Anomalies in Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health, Argentina. Electronic address:

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.12.008DOI Listing
December 2018
6 Reads
1.486 Impact Factor

Health-related quality of life in children with osteogenesis imperfecta: a large-sample study.

Osteoporos Int 2018 Dec 19. Epub 2018 Dec 19.

Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No.1, Dongcheng District, Beijing, 100730, China.

In this large-sample study, we demonstrated that osteogenesis imperfecta (OI) significantly impaired the quality of life (QoL) in children. Moderate/severe OI patients had worse QoL scores than patients with mild OI. Furthermore, the QoL for OI patients was correlated with the presence of pathogenic gene mutations. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00198-018-4801-5
Publisher Site
http://dx.doi.org/10.1007/s00198-018-4801-5DOI Listing
December 2018
8 Reads

Special form of osteoporosis in a 53-year-old man.

BMJ Case Rep 2018 Dec 13;11(1). Epub 2018 Dec 13.

Division of Endocrinology and Diabetes, Luzerner Kantonsspital, Luzern, Switzerland.

Male osteoporosis often remains unrecognised. Osteoporotic fractures occur approximately 10 years later in men than in women due to higher peak bone mass. However, 30% of all hip fractures occur in men. Read More

View Article

Download full-text PDF

Source
http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22667
Publisher Site
http://dx.doi.org/10.1136/bcr-2018-226672DOI Listing
December 2018
8 Reads

TAVI as Therapy of Choice for Aortic Valve Disease in Osteogenesis Imperfecta.

J Heart Valve Dis 2018 Jan;27(1):104-106

Department of Cardiology, Pulmonology and Angiology, University Hospital, Düsseldorf, Germany.

Osteogenesis imperfecta (OI) is a syndrome that is often associated with dysfunction of the aortic valve. Because of the resultant fragile vessels and impaired hemostasis, surgical therapy to treat OI is challenging. Previous reports have suggested that transcatheter aortic valve implantation (TAVI) might be a suitable treatment for this condition. Read More

View Article

Download full-text PDF

Source
January 2018
3 Reads

Impact of Transphyseal Elastic Nailing On the Histostructure of the Tibia in Growing Animals (Non-Randomized Controlled Experimental Study).

Open Access Maced J Med Sci 2018 Nov 15;6(11):1972-1976. Epub 2018 Nov 15.

Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6, M. Ulyanova Street, Kurgan, Russia.

Background: The use of intramedullary elastic nailing is a method of choice for prevention of complications in children with osteogenesis imperfecta. However, the morphology of the growing long bones in the conditions created was not investigated.

Aim: The purpose of our experiment was to study the impact of elastic intramedullary nailing on the histostructure of long bones in their physiological growth. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3889/oamjms.2018.342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290436PMC
November 2018
1 Read

3D Imaging of Indentation Damage in Bone.

Materials (Basel) 2018 Dec 13;11(12). Epub 2018 Dec 13.

Henry Moseley X-ray Imaging Facility, Henry Royce Institute, School of Materials, The University of Manchester, Manchester M13 9PL, UK.

Bone is a complex material comprising high stiffness, but brittle, crystalline bio-apatite combined with compliant, but tough, collagen fibres. It can accommodate significant deformation, and the bone microstructure inhibits crack propagation such that micro-cracks can be quickly repaired. Catastrophic failure (bone fracture) is a major cause of morbidity, particularly in aging populations, either through a succession of small fractures or because a traumatic event is sufficiently large to overcome the individual crack blunting/shielding mechanisms. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ma11122533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316674PMC
December 2018
15 Reads

Roles of the endoplasmic reticulum-resident, collagen-specific molecular chaperone Hsp47 in vertebrate cells and human disease.

J Biol Chem 2019 Feb 12;294(6):2133-2141. Epub 2018 Dec 12.

From the Institute for Protein Dynamics,

Heat shock protein 47 (Hsp47) is an endoplasmic reticulum (ER)-resident molecular chaperone essential for correct folding of procollagen in mammalian cells. In this Review, we discuss the role and function of Hsp47 in vertebrate cells and its role in connective tissue disorders. Hsp47 binds to collagenous (Gly-Xaa-Arg) repeats within triple-helical procollagen in the ER and can prevent its local unfolding or aggregate formation, resulting in accelerating triple-helix formation of procollagen. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.TM118.002812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369284PMC
February 2019
2 Reads

A Quartet of Elastic Stable Intramedullary Nails for More Challenging Pediatric Femur Fractures.

J Pediatr Orthop 2019 Jan;39(1):e12-e17

Children's Healthcare of Atlanta.

Introduction: The insertion of 2 elastic stable intramedullary nails (ESINs) is a common treatment for pediatric femur fractures. However, the use of this technique in length-unstable or metadiaphyseal fractures has historically been associated with higher complication rates. To improve stability, the addition of a third ESIN has been assessed biomechanically and clinically, but the addition of a fourth nail has only been evaluated biomechanically. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001273DOI Listing
January 2019
2 Reads

Bone Marrow Transplantation for Treatment of the Col1a2 Osteogenesis Imperfecta Mouse Model.

Calcif Tissue Int 2018 Dec 8. Epub 2018 Dec 8.

Orthopaedic Research and Biotechnology Unit, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.

Bone marrow transplantation (BMT) of healthy donor cells has been postulated as a strategy for treating osteogenesis imperfecta (OI) and other bone fragility disorders. The effect of engraftment by tail vein injection and/or marrow ablation by 6 Gy whole body irradiation were tested in Col1a2 (OI) mice as a model of mild-moderate OI. Dual-emission X-ray absorptiometry, microCT, and 4-point bending were used to measure bone volume (BV), bone mineral density (BMD), and biomechanical strength. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-018-0504-3DOI Listing
December 2018
1 Read

Prophylaxis of osteonecrosis in the case of patients treated with bisphosphonates: A review paper.

Dent Med Probl 2018 Oct-Dec;55(4):425-429

Medical University of Warsaw, Poland.

Bisphosphonates are a group of medicines used in the treatment of oncological osteoporosis, Paget disease and osteogenesis imperfecta. They significantly interfere with the regeneration processes of bone tissue and have a tendency to accumulate in the areas of increased bone remodeling, i.e. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17219/dmp/99021DOI Listing
December 2018
3 Reads

Improvement of bone microarchitecture parameters after 12 months of treatment with asfotase alfa in adult patient with hypophosphatasia: Case report.

Medicine (Baltimore) 2018 Nov;97(48):e13210

Rheumatology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients.

Patient Concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years-which needed numerous surgical corrections. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000013210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283215PMC
November 2018
9 Reads

[Secondary osteoporosis. Disease-Related Osteoporosis in Children.]

Clin Calcium 2018;28(12):1591-1598

Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.

Similarly to adult osteoporosis, childhood osteoporosis also is usually divided into primary and secondary causes. Primary osteoporosis includes genetic disorders represented by osteogenesis imperfecta. Secondary pediatric osteoporosis is associated with various diseases and glucocorticoid treatment, and malnutrition, impaired mobility, chronic inflammation and endocrine disorders can be risk factors. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/CliCa181215911598DOI Listing
January 2018
1 Read

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.

J Clin Med 2018 11 24;7(12). Epub 2018 Nov 24.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.

Osteogenesis imperfecta (OI) is a connective tissue disorder that is characterized by low bone density leading to recurrent fractures. The efficacy of the anti-resorption drug denosumab for OI with osteoporosis is still largely unknown. We herein describe the clinical outcomes of eight osteoporotic cases of OI to examine the effects and safety of denosumab. Read More

View Article

Download full-text PDF

Source
http://www.mdpi.com/2077-0383/7/12/479
Publisher Site
http://dx.doi.org/10.3390/jcm7120479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306860PMC
November 2018
3 Reads

Central nervous system toxicity due to mefenamic acid.

Am J Emerg Med 2018 Nov 17. Epub 2018 Nov 17.

Department of Emergency Medicine, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.

Mefenamic acid is a fenamate nonsteroidal anti-inflammatory (NSAI) drug, which is used for several years for pain management. However, it has been rarely reported that, mefenamic acid can induce central nervous system toxicity both in toxic doses and therapeutic usage. We report a case of a 27-year-old female who presented to the emergency department (ED) with altered mental status and vomiting. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajem.2018.11.027DOI Listing
November 2018
1 Read

Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report.

Int J Implant Dent 2018 Nov 23;4(1):36. Epub 2018 Nov 23.

Triangle Implant Center, 5318 NC Highway 55, Suite 106, Durham, NC, 27713, USA.

Bone fragility and skeletal irregularities are the characteristic features of osteogenesis imperfecta (OI). Many patients with OI have weakened maxillary and mandibular bone, leading to poor oral hygiene and subsequent loss of teeth. Improvements in implant therapy have allowed for OI patients to achieve dental restoration. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40729-018-0148-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250748PMC
November 2018

Otosclerosis and Dysplasias of the Temporal Bone.

Neuroimaging Clin N Am 2019 Feb 31;29(1):29-47. Epub 2018 Oct 31.

Department of Radiology, Boston Medical Center, Boston University School of Medicine, 820 Harrison Avenue, FGH 3rd Floor, Boston, MA 02118, USA; Department of Otolaryngology-Head and Neck Surgery, Boston Medical Center, Boston University School of Medicine, 820 Harrison Avenue, FGH 3rd Floor, Boston, MA 02118, USA; Department of Radiation Oncology, Boston Medical Center, Boston University School of Medicine, 820 Harrison Avenue, FGH 3rd Floor, Boston, MA 02118, USA. Electronic address:

Many bone dysplasias, some common and others rare, may involve the temporal bone causing conductive, sensorineural, or mixed hearing loss, vestibular dysfunction, or skull base foraminal narrowing, potentially affecting quality of life. Some conditions may affect only the temporal bone, whereas others may be more generalized, involving different regions of the body. High-resolution computed tomography may detect subtle osseous changes that can help define the type of dysplasia, and MR imaging can help define the degree of activity of lesions and potential associated complications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nic.2018.09.004DOI Listing
February 2019
18 Reads