5,752 results match your criteria Osteogenesis Imperfecta


High-resolution peripheral quantitative computed tomography in children with osteogenesis imperfecta.

Pediatr Radiol 2020 Jul 1. Epub 2020 Jul 1.

Academic Unit of Child Health, University of Sheffield, Damer Street, Sheffield, S10 2TH, UK.

Bone health in children with osteogenesis imperfecta is monitored using radiographs and dual-energy X-ray absorptiometry, which have limitations. High-resolution peripheral quantitative CT can non-invasively derive bone microarchitectural data. Children with severe osteogenesis imperfecta have fragile deformed bones, and positioning for this scan can be difficult. Read More

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http://dx.doi.org/10.1007/s00247-020-04736-8DOI Listing

A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability.

Ochsner J 2020 ;20(2):204-208

Department of Orthopedic Surgery, Ochsner Clinic Foundation, New Orleans, LA.

Bruck syndrome is a rare autosomal recessive condition that presents with many of the symptoms of osteogenesis imperfecta. In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by arthrogryposis with pterygia. Joint contractures are frequently bilateral and severe. Read More

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http://dx.doi.org/10.31486/toj.18.0145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310181PMC
January 2020

Therapeutic application of extracellular vesicles for musculoskeletal repair & regeneration.

Connect Tissue Res 2020 Jun 30:1-16. Epub 2020 Jun 30.

Medical College of Georgia, Augusta University , Augusta, GA, USA.

Traumatic musculoskeletal injuries are common in both the civilian and combat care settings. Significant barriers exist to repairing these injuries including fracture nonunion, muscle fibrosis, re-innervation, and compartment syndrome, as well as infection and inflammation. Recently, extracellular vesicles (EVs), including exosomes and microvesicles, have attracted attention in the field of musculoskeletal regeneration. Read More

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http://dx.doi.org/10.1080/03008207.2020.1781102DOI Listing

'A confident parent breeds a confident child': Understanding the experience and needs of parents whose children will transition from paediatric to adult care.

J Child Health Care 2020 Jun 30:1367493520936422. Epub 2020 Jun 30.

Institute of Human Sciences, 8695 University of Wolverhampton , UK.

Transitional care for young people with long-term conditions emphasizes the importance of supporting parents, particularly in relation to promoting adolescent healthcare autonomy. Yet, little practical guidance is provided, and transitional care remains suboptimal for many families. This study aimed to examine how parents understand and experience their caregiving role during their child's transition to adult services, to identify parents' needs, and to inform service improvements. Read More

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http://dx.doi.org/10.1177/1367493520936422DOI Listing

Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study.

J Am Dent Assoc 2020 Jul;151(7):480-490.e2

Background: The incidence of malocclusion is higher among people with osteogenesis imperfecta (OI) than the general population, and treatment options are limited due to the weak structure of bones and teeth. Focusing on those malocclusion traits that might have a high impact on a patient's oral health-related quality of life (OHRQoL) is warranted.

Methods: A total of 138 children and adolescents with OI were examined for malocclusion traits. Read More

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http://dx.doi.org/10.1016/j.adaj.2020.03.040DOI Listing

Craniofacial allometry in the OIM mouse model of osteogenesis imperfecta.

FASEB J 2020 Jun 27. Epub 2020 Jun 27.

Department of Anatomy, Cell Biology & Physiology, Indiana University School of Medicine, Indianapolis, IN, USA.

Osteogenesis imperfecta (OI) is a skeletal disorder characterized by the impaired synthesis of type I collagen (Col1). This study tests the hypothesis that the craniofacial phenotype of severe OI is linked to an overall reduction in body size. 3D landmark data were collected from µCT scans of adult OIM and wild-type (WT) mice and used to calculate centroid sizes (CS) and interlandmark distances (ILDs). Read More

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http://dx.doi.org/10.1096/fj.202000715RDOI Listing

Oral Bisphosphonate Therapy for Osteogenesis Imperfecta: A Systematic Review and Meta-Analysis of Six Randomized Placebo-Controlled Trials.

Orthop Surg 2020 Jun 26. Epub 2020 Jun 26.

Department of Orthopaedic Surgery, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, China.

Objective: To assess the effectiveness and safety of oral bisphosphonates in increasing bone mineral density (BMD), reducing fractures, and improving clinical function in patients with osteogenesis imperfecta (OI).

Methods: Studies were eligible for inclusion if they were randomized controlled trials of directly comparing oral bisphosphonate therapy with placebo-group in OI patients. Data synthesis regarding to bone mineral density as measured by dual-energy X-ray absorptiometry (DEXA), decreased fracture incidence, change in biochemical markers of bone and mineral metabolism, bone histology, growth, bone pain, quality of life, and others were assessed, and meta-analysis done when possible. Read More

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http://dx.doi.org/10.1111/os.12611DOI Listing

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.

Mol Genet Genomic Med 2020 Jun 25:e1366. Epub 2020 Jun 25.

The Second Hospital, Shanxi Medical University, Taiyuan, China.

Background: Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein collagen type I. With the use of next-generation sequencing and panels approaches, an increasing number of OI patients can be confirmed and new pathogenic variants can be discovered. This study sought to identify pathogenic gene variants in a Chinese family with OI I. Read More

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http://dx.doi.org/10.1002/mgg3.1366DOI Listing

Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.

Fetal Pediatr Pathol 2020 Jun 18:1-19. Epub 2020 Jun 18.

Department of Embryo-Fetopathology, Maternity and Neonatology Center, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

The aim of this study was to classify the fetal skeletal dysplasias (FSD) in a series of affected fetuses based on radio-pathologic criteria. We gathered clinicopathologic data of 72 cases which were diagnosed among 5995 autopsies performed over a 8-year period. The prevalence of FSD was 1. Read More

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http://dx.doi.org/10.1080/15513815.2020.1775735DOI Listing

New insights on the clinical variability of FKBP10 mutations.

Eur J Med Genet 2020 Jun 9;63(9):103980. Epub 2020 Jun 9.

Center for Medical Genetics, Ghent University, Ghent, Belgium.

To date 45 autosomal recessive disease-causing variants are reported in the FKBP10 gene. Those variant were found to be associated with Osteogenesis Imperfecta (OI) for which the hallmark phenotype is bone fractuers or Bruck Syndrome (BS) where bone fractures are accompanied with contractures. In addition, a specific homozygous FKBP10 mutation (p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103980DOI Listing

Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.

Mol Genet Genomic Med 2020 Jun 11:e1350. Epub 2020 Jun 11.

Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Lin Hai, P.R. China.

Background: Wnt signaling pathway plays an important role in promoting ostergenesis. WNT1 mutations have been considered as a major cause of ostergenesis imperfect (OI). We identified an OI patient with pathogenic consanguineous-derived homozygous WNT1 missense mutation. Read More

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http://dx.doi.org/10.1002/mgg3.1350DOI Listing

Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta.

J Pediatr (Rio J) 2020 Jun 8. Epub 2020 Jun 8.

Universidade de Brasília, Faculdade de Educação Física, Brasília, DF, Brazil.

Objective: To describe postural balance, handgrip strength and mobility in children and adolescents with different types of osteogenesis imperfecta.

Methods: Cross-sectional study. Fifty selected subjects diagnosed with types I (n=11), III (n=21), and IV (n=18), followed up at Brazilian reference center for osteogenesis imperfecta in the Midwest region, aged 2-21 years (9. Read More

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http://dx.doi.org/10.1016/j.jped.2020.05.003DOI Listing

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a Variant.

J Clin Res Pediatr Endocrinol 2020 Jun 10. Epub 2020 Jun 10.

Division of Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.

Osteogenesis Imperfecta (OI) is characterized by fractures and progressive bone deformities. Fracture rates peak during the toddler and adolescent years and decline during adulthood but do not stop entirely. We describe a 3-person kindred (mother and 2 sons) who presented with a unique phenotype of OI. Read More

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0012DOI Listing

Pharmacotherapy in Rare Skeletal Diseases.

Handb Exp Pharmacol 2020 Jun 10. Epub 2020 Jun 10.

Faculty of Medicine, University of Cologne, Cologne, Germany.

New therapeutic approaches have been established in the field of rare skeletal diseases (e.g., for osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia, and fibrodysplasia ossificans progressiva). Read More

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http://dx.doi.org/10.1007/164_2019_305DOI Listing

Molecular alterations in the extracellular matrix in the brains of newborns with congenital Zika syndrome.

Sci Signal 2020 Jun 9;13(635). Epub 2020 Jun 9.

Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of São Paulo, São Paulo, Brazil.

Zika virus (ZIKV) infection during pregnancy can cause a set of severe abnormalities in the fetus known as congenital Zika syndrome (CZS). Experiments with animal models and in vitro systems have substantially contributed to our understanding of the pathophysiology of ZIKV infection. Here, to investigate the molecular basis of CZS in humans, we used a systems biology approach to integrate transcriptomic, proteomic, and genomic data from the postmortem brains of neonates with CZS. Read More

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http://dx.doi.org/10.1126/scisignal.aay6736DOI Listing

The Rare Bone Disease TeleECHO Program: Leveraging Telehealth to Improve Rare Bone Disease Care.

Curr Osteoporos Rep 2020 Jun 8. Epub 2020 Jun 8.

New Mexico Clinical Research & Osteoporosis Center, 300 Oak St NE, Albuquerque, NM, 87106, USA.

Purpose Of Review: Rare bone diseases constitute ~ 5% of all known rare diseases and can require complex, multidisciplinary care. Advancing access to current medical knowledge is an important strategy for improving care for rare bone diseases throughout the world. To support this goal, the Rare Bone Disease Alliance launched the Rare Bone Disease TeleECHO in 2019. Read More

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http://dx.doi.org/10.1007/s11914-020-00595-2DOI Listing

Recurrent Coronary Vasospasm After Cardiac Surgery.

Ann Thorac Surg 2020 Jun 5. Epub 2020 Jun 5.

Division of Cardiac Surgery, Montreal Heart Institute, University of Montreal, 5000 Belanger Street, Montreal, Quebec H1T 1C8, Canada. Electronic address:

Post-operative coronary vasospasm is a rare but potentially life-threatening complication after cardiac surgery. We present the case of a young patient with osteogenesis imperfecta who developed coronary vasospasm after each of his two aortic valve procedures. We believe this case provides new information about the presentation, potential for recurrence and clinical progression of perioperative coronary vasospasm. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2020.04.082DOI Listing

Extensive protein expression changes induced by pamidronate in RAW 264.7 cells as determined by IP-HPLC.

PeerJ 2020 21;8:e9202. Epub 2020 May 21.

Department of Oral Pathology, College of Dentistry, Gangneung-Wonju National University, Gangneung, Gangwondo, South Korea.

Background: Bisphosphonate therapy has become a popular treatment for osteoporosis, Paget's disease, multiple myeloma, osteogenesis imperfecta, myocardial infarction, and cancer despite its serious side effects. Bisphosphonate-induced molecular signaling changes in cells are still not clearly elucidated.

Methods: As bisphosphonates are primarily engulfed by macrophages, we treated RAW 264. Read More

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http://dx.doi.org/10.7717/peerj.9202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246033PMC

Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling.

Bone Res 2020 22;8:21. Epub 2020 May 22.

Department of Chemistry and Biochemistry, The Ohio State University, Columbus, OH 43210 USA.

Mutations in actin-bundling protein plastin 3 (PLS3) emerged as a cause of congenital osteoporosis, but neither the role of PLS3 in bone development nor the mechanisms underlying PLS3-dependent osteoporosis are understood. Of the over 20 identified osteoporosis-linked PLS3 mutations, we investigated all five that are expected to produce full-length protein. One of the mutations distorted an actin-binding loop in the second actin-binding domain of PLS3 and abolished F-actin bundling as revealed by cryo-EM reconstruction and protein interaction assays. Read More

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http://dx.doi.org/10.1038/s41413-020-0095-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244493PMC

Paediatric olecranon fractures: a systematic review.

EFORT Open Rev 2020 May 1;5(5):280-288. Epub 2020 May 1.

St George's University Hospitals NHS Foundation Trust, London, UK.

The optimal management and long-term outcomes of olecranon fractures in the paediatric population is not well understood. This systematic review aims to analyse the literature on the management of paediatric olecranon fractures and the long-term implications.A systematic review of several databases was conducted according to PRISMA guidelines. Read More

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http://dx.doi.org/10.1302/2058-5241.5.190082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7265082PMC

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Eur J Hum Genet 2020 Jun 1. Epub 2020 Jun 1.

Children's Hospital of Philadelphia, Philadelphia, PA, USA.

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. Read More

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http://dx.doi.org/10.1038/s41431-020-0654-4DOI Listing
June 2020
4.349 Impact Factor

Elucidation of proteostasis defects caused by osteogenesis imperfecta mutations in the collagen-α2(I) C-propeptide domain.

J Biol Chem 2020 Jun 1. Epub 2020 Jun 1.

Department of Chemistry, Massachusetts Institute of Technology, United States.

Intracellular collagen assembly begins with the oxidative folding of ~30-kDa C-terminal propeptide (C-Pro) domains. Folded C-Pro domains then template the formation of triple helices between appropriate partner strands. Numerous C-Pro missense variants that disrupt or delay triple-helix formation are known to cause disease, but our understanding of the specific proteostasis defects introduced by these variants remains immature. Read More

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http://dx.doi.org/10.1074/jbc.RA120.014071DOI Listing

Limitations in Use of Elastic Stable Intramedullary Nailing (ESIN) in Children with Disorders of Bone Mineralization.

Ortop Traumatol Rehabil 2020 Apr;22(2):77-83

Orthopedic & Trauma Department with Arthrogriposis Ward, University Pediatric Hospital in Cracow, Poland / Department of Pediatric Surgery, Jagiellonian University Collegium Medicum, Cracow, Poland.

Background: Elastic intramedullary nails (ESIN) have been the treatment of choice in many long bone fractures in children for more than 20 years. The introduction of ESIN has drastically reduced tissue traumatization during fracture fixation procedures and decreased the risk of growth cartilage damage, as well as allowing for preservation of the natural biology of closed fracture healing. The objective of the present report is to draw attention to a small group of patients with bone mineralization disorders, who consequently demonstrate decreased mechanical resistance of the skeletal system, in whom indications for using ESIN fixation are limited. Read More

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http://dx.doi.org/10.5604/01.3001.0014.1154DOI Listing

Reproductive options for families at risk of Osteogenesis Imperfecta: a review.

Orphanet J Rare Dis 2020 May 27;15(1):128. Epub 2020 May 27.

Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Tartu, Estonia.

Background: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Read More

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http://dx.doi.org/10.1186/s13023-020-01404-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251694PMC

The synergistic effect of NELL1 and adipose-derived stem cells on promoting bone formation in osteogenesis imperfecta treatment.

Biomed Pharmacother 2020 Aug 23;128:110235. Epub 2020 May 23.

Department of Genetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, People's Republic of China. Electronic address:

Background: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and deformity. Mesenchymal stem cells (MSCs) infusion can improve bone performance mainly due to their differentiation into osteoblasts in OI therapy. The osteoinductive activity of NELL1 have benefited various bone defect and osteoporotic models by promoting bone formation. Read More

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http://dx.doi.org/10.1016/j.biopha.2020.110235DOI Listing
August 2020
2.023 Impact Factor

Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis.

J Bone Miner Res 2020 May 26. Epub 2020 May 26.

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

Plastin 3 (PLS3), encoded by PLS3, is a newly recognized regulator of bone metabolism, and mutations in the encoding gene result in severe childhood-onset osteoporosis. Because it is an X chromosomal gene, PLS3 mutation-positive males are typically more severely affected whereas females portray normal to increased skeletal fragility. Despite the severe skeletal pathology, conventional metabolic bone markers tend to be normal and are thus insufficient for diagnosing or monitoring patients. Read More

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http://dx.doi.org/10.1002/jbmr.4097DOI Listing

Bisphosphonate Therapy and Tooth Development in Children and Adolescents with Osteogenesis Imperfecta.

Calcif Tissue Int 2020 May 25. Epub 2020 May 25.

Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.

Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by repeated fractures and skeletal disorders. At present, bisphosphonate (BP) therapy is the gold standard for OI treatment. The present retrospective study evaluated the effect of BP therapy on tooth development and eruption of permanent teeth in a cohort of children receiving pamidronate. Read More

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http://dx.doi.org/10.1007/s00223-020-00707-1DOI Listing

Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance.

Orphanet J Rare Dis 2020 May 19;15(1):117. Epub 2020 May 19.

The Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, OX3 7LD, UK.

Background: Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients. Read More

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http://dx.doi.org/10.1186/s13023-020-01398-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238497PMC

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Eur J Med Genet 2020 Aug 13;63(8):103954. Epub 2020 May 13.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, P.O. Box 3660, Riyadh, 11481, Saudi Arabia. Electronic address:

Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have also been described in the literature. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103954DOI Listing
August 2020
1.486 Impact Factor

Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound.

Diagnostics (Basel) 2020 May 7;10(5). Epub 2020 May 7.

Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan.

Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable and often overlap among different disorders. The molecular mechanisms underlying this condition are also diverse. Hundreds of genes are involved in the pathogenesis of SD, but most of them are yet to be elucidated, rendering genotyping almost infeasible except those most common such as fibroblast growth factor receptor 3 (), collagen type I alpha 1 chain (), collagen type I alpha 2 chain (), diastrophic dysplasia sulfate transporter (), and SRY-box 9 (). Read More

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http://dx.doi.org/10.3390/diagnostics10050286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277976PMC

A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.

Mol Genet Genomic Med 2020 May 8:e1287. Epub 2020 May 8.

Department of Obstetrics and Gynecology, 900 Hospital of the Joint Logistics Team or Dongfang Hospital, Fuzhou, Fujian, People's Republic of China.

Background: Osteogenesis imperfecta (OI) type V is a rare heritable bone disorder caused by pathogenic variants of IFITM5. Only two mutated alleles in IFITM5 have been identified worldwide, the role of which in OI pathology is not fully understood.

Methods: A neonatal case of suspected OI, clinically manifested as a rare clavicle transection fracture with delayed early fracture healing, was studied. Read More

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http://dx.doi.org/10.1002/mgg3.1287DOI Listing

Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone-Specific Phenotype.

J Bone Miner Res 2020 May 5. Epub 2020 May 5.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Since a key function of Wnt1 in brain development was established early on through the generation of non-viable Wnt1-deficient mice, it was initially surprising that WNT1 mutations were found to cause either early-onset osteoporosis (EOOP) or osteogenesis imperfecta type XV (OI-XV). The deduced function of Wnt1 as an osteoanabolic factor has been confirmed in various mouse models with bone-specific inactivation or overexpression, but mice carrying disease-causing Wnt1 mutations have not yet been described. Triggered by the clinical analysis of EOOP patients carrying a heterozygous WNT1 mutation (p. Read More

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http://dx.doi.org/10.1002/jbmr.4043DOI Listing

Total Hip Arthroplasty in Patients With Osteogenesis Imperfecta.

J Arthroplasty 2020 Mar 18. Epub 2020 Mar 18.

Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota.

Background: Osteogenesis imperfecta (OI) comprises a spectrum of disorders that result in bone fragility. This presents unique challenges when performing total joint arthroplasty in patients with OI. The purpose of this study is to determine the survivorship and clinical outcomes of total hip arthroplasty (THA) in patients with OI. Read More

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http://dx.doi.org/10.1016/j.arth.2020.03.023DOI Listing

Anterior Segment Findings in Patients With Osteogenesis Imperfecta: A Case-Control Study.

Cornea 2020 Apr 29. Epub 2020 Apr 29.

Dr. Sami Ulus Children's Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Purpose: To evaluate the anterior segment parameters in patients with osteogenesis imperfecta (OI) compared with healthy control subjects.

Methods: Seventeen patients with OI and 19 age-matched healthy controls were included into this cross-sectional case-control study. Corneal topographic, topometric and Belin-Ambrósio Enhanced Ectasia Display III analysis, corneal densitometry (12-mm corneal diameter), and lens densitometry measurements were obtained by using the Pentacam HR-Scheimpflug imaging system (Oculus, Wetzlar, Germany). Read More

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http://dx.doi.org/10.1097/ICO.0000000000002345DOI Listing

The day-to-day experiences of caring for children with Osteogenesis Imperfecta: A qualitative descriptive study.

J Clin Nurs 2020 Apr 30. Epub 2020 Apr 30.

Ingram School of Nursing, McGill University, Montréal, Canada.

Aims And Objectives: To explore the day-to-day experiences of family caregivers who are caring for children with Osteogenesis Imperfecta (OI).

Background: Osteogenesis Imperfecta is a rare genetic condition known to cause bone fragility. Family caregivers of children with OI play an important role in helping these children live well at home. Read More

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http://dx.doi.org/10.1111/jocn.15310DOI Listing

Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study.

J Pediatr Genet 2020 Jun 6;9(2):93-100. Epub 2020 Jan 6.

Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Regional Center for the Diagnosis and Treatment of Children and Adolescents with Rare Skeletal Disorders, Pediatric Clinic, University of Verona, Verona, Italy.

The use of intravenous bisphosphonates has been linked to hypocalcemia both in children and adults with osteogenesis imperfecta (OI). The aims of this study were: (1) to investigate the incidence of hypocalcemia in the first 48 hours (T48) after neridronate infusion in a pediatric population with OI and (2) to assess any correlation between the baseline values of calcium, vitamin D (25-hydroxyvitamin D) and bone turnover markers, and the postinfusion calcium values. We conducted a prospective observational study on 37 pediatric patients. Read More

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http://dx.doi.org/10.1055/s-0039-1700972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183406PMC

[Analysis of a case with gonadal mosaicism for COL1A2 variant].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):523-526

Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, the Sixth Medical Center of PLA General Hospital, Beijing 100048, China.

Objective: To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.

Methods: Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.007DOI Listing

[Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):514-518

Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.

Objective: To analyze the clinical phenotype of six pedigrees affected with osteogenesis imperfecta and their genetic basis.

Methods: Peripheral blood or abortic tissues of the six pedigrees were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect pathological variants in the genome. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.005DOI Listing

Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases.

Eur J Ophthalmol 2020 Apr 21:1120672120919344. Epub 2020 Apr 21.

Retinoblastoma Referral Center, University of Siena, Siena, Italy.

Introduction: This case report presents two patients affected by a very rare association of bilateral retinoblastoma and osteogenesis imperfecta.

Case Report: Two Caucasian males with familial history and clinical signs of osteogenesis imperfecta came to our attention for bilateral leukocoria. The ocular fundus examination revealed bilateral retinoblastoma. Read More

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http://dx.doi.org/10.1177/1120672120919344DOI Listing
April 2020
1.058 Impact Factor

Perinatal Hypophosphatasia in a Premature Infant.

AJP Rep 2020 Apr 15;10(2):e139-e147. Epub 2020 Apr 15.

Department of Pediatrics, University at Buffalo, Buffalo, New York.

A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head. Serum alkaline phosphatase was very low on admission. Read More

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http://dx.doi.org/10.1055/s-0040-1709512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159980PMC

Late onset hyperplastic callus formation in osteogenesis imperfecta type V simulating osteosarcoma-A case report.

Int J Surg Case Rep 2020 28;69:83-86. Epub 2020 Mar 28.

Department of Orthopaedics and Traumatology, University Hospital Oldenburg, Germany.

Introduction: We report a case of late onset hyperplastic callus formation (HPC) in the right femur in type V osteogenesis imperfecta (OI) mimicking the occurrence of a malignant osteosarcoma.

Presentation Of Case: A 27-year-old female patient consulted us due to swelling in her right femur over 2-3 months without trauma. X-rays looked like an osteosarcoma, blood tests showed increased bone metabolism. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.03.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163286PMC

Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis.

Clin Dysmorphol 2020 Jul;29(3):155-157

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust.

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http://dx.doi.org/10.1097/MCD.0000000000000323DOI Listing

A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.

Mol Genet Genomic Med 2020 Jun 13;8(6):e1241. Epub 2020 Apr 13.

Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.

Background: Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in COL1A1 (17q21.33) or COL1A2 (7q21. Read More

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http://dx.doi.org/10.1002/mgg3.1241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284024PMC

Dislodgement of Telescopic Nail from the Epiphysis: A Case Report with an Analysis of Probable Mechanism.

Cureus 2020 Feb 28;12(2):e7130. Epub 2020 Feb 28.

Orthopaedics, All India Institute of Medical Sciences, Bhopal, IND.

Telescopic nails such as Fassier-Duval (FD) nails have become the standard treatment for stabilizing long bones and correcting deformities in osteogenesis imperfecta (OI). These nails do not require repeat surgery for their replacement when the bones outgrow them. However, they are not completely free from complications. Read More

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http://dx.doi.org/10.7759/cureus.7130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105006PMC
February 2020

Exploring the Perceived Self-management Needs of Young Adults With Osteogenesis Imperfecta.

Clin Nurse Spec 2020 May/Jun;34(3):99-106

Author Affiliations: McGill University, Ingram School of Nursing (Mss Michalovic and Anderson and Drs Rauch and Tsimicalis); and Shriners Hospitals for Children (Ms Thorstad and Drs Rauch and Tsimicalis), Montreal, Quebec, Canada.

Purpose: To explore the perceived self-management needs of young adults with osteogenesis imperfecta (OI) with the goal of optimizing the self-management and transitional care services.

Methods: A qualitative descriptive study was performed with young adults diagnosed with OI. Two semistructured interviews were conducted before and after their first appointment with a nurse practitioner in the adult healthcare settings (a new partnership initiated by the pediatric hospital). Read More

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http://dx.doi.org/10.1097/NUR.0000000000000517DOI Listing

Paediatric Metabolic Bone Disease: A Lifetime Ahead.

Adv Ther 2020 May 31;37(Suppl 2):38-46. Epub 2020 Mar 31.

Unidad de Gestión Clínica de Metabolismo Óseo y Mineral, Instituto Reina Sofía de Investigación, RedinRen ISCIII, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain.

Beyond its functions in locomotion, support and protection of vital organs, bone also interacts with other organs to adjust mineral balance in response to physiological requirements. Bone remodelling is a continuous process of bone resorption and formation for the purpose of maintaining healthy bone mass and growth. Any derangement in this process can cause bone disorders with important clinical consequences. Read More

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http://dx.doi.org/10.1007/s12325-019-01174-3DOI Listing

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.

Orphanet J Rare Dis 2020 Mar 31;15(1):80. Epub 2020 Mar 31.

Department of Dental Medicine, Division of Orthodontics and Pediatric Dentistry, Karolinska Institutet, POB 4064, SE-141 04, Huddinge, Sweden.

Background: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately 85% of cases. In recent years, recessive variants in genes involved in collagen processing have been found. Read More

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http://dx.doi.org/10.1186/s13023-020-01361-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110904PMC

Comprehensive bioinformatic analysis of Wnt1 and Wnt1-associated diseases.

Intractable Rare Dis Res 2020 Feb;9(1):14-22

School of Medicine and Life Sciences, University of Jinan, Shandong Academy of Medical Sciences, Ji'nan, China.

Wnt1 is the first member of the Wnt family that was identified. It is phylogenetically conserved and essential for oncogenesis and multiple developmental processes. This study has summarized diseases and mutations related to . Read More

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http://dx.doi.org/10.5582/irdr.2020.01018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062594PMC
February 2020

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC