1,187 results match your criteria Imaging in Osteogenesis Imperfecta


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

Cornea 2020 Aug;39(8):935-939

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

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

Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish.

Cell Syst 2020 Mar 18;10(3):275-286.e5. Epub 2020 Mar 18.

Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA; Department of Mechanical Engineering, University of Washington, Seattle, WA, USA.

Genetic mosaicism can manifest as spatially variable phenotypes that vary from site to site within an organism. Here, we use imaging-based phenomics to quantitate phenotypes at many sites within the axial skeleton of CRISPR-edited G0 zebrafish. Through characterization of loss-of-function cell clusters in the developing skeleton, we identify a distinctive size distribution shown to arise from clonal fragmentation and merger events. Read More

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http://dx.doi.org/10.1016/j.cels.2020.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213258PMC

Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta.

Int J Nanomedicine 2019 2;14:9423-9435. Epub 2019 Dec 2.

Faculty of Dentistry, University of Toronto, Toronto, Canada.

Introduction: Dentinogenesis imperfecta type 1 (OIDI) is considered a relatively rare genetic disorder (1:5000 to 1:45,000) associated with osteogenesis imperfecta. OIDI impacts the formation of collagen fibrils in dentin, leading to morphological and structural changes that affect the strength and appearance of teeth. However, there is still a lack of understanding regarding the nanoscale characterization of the disease, in terms of collagen ultrastructure and mechanical properties. Read More

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http://dx.doi.org/10.2147/IJN.S217420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6897053PMC
February 2020

Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST).

J Pediatr Orthop 2020 Jan;40(1):48-52

Department of Orthopaedics.

Background: Evaluation of the union of osteotomies and fractures in patients with osteogenesis imperfecta (OI) is a critical component of patient care. Studies of the OI patient population have so far used varied criteria to evaluate bony union. The radiographic union score for tibial fractures (RUST), which was subsequently revised to the modified RUST, is an objective standardized method of evaluating fracture healing. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001068DOI Listing
January 2020

Fetal magnetic resonance imaging of skeletal dysplasias.

Pediatr Radiol 2020 02 27;50(2):224-233. Epub 2019 Nov 27.

Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229, USA.

Background: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.

Objective: The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.

Materials And Methods: This retrospective study was approved by the institutional review board; informed consent was waived. Read More

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http://dx.doi.org/10.1007/s00247-019-04537-8DOI Listing
February 2020

Pediatric otosyphilis-An unusual cause of conductive hearing loss.

Radiol Case Rep 2020 Jan 9;15(1):65-70. Epub 2019 Nov 9.

Barts Health NHS Trust, The Royal London Hospital, Whitechapel Rd, Whitechapel E1 1BB, UK.

We present the case of a 5 year old female with a unilateral conductive hearing loss which had a relapsing and remitting course over a 3 year period. An initial noncontrast CT temporal bone study was unremarkable and a diagnosis of otitis media was made in the first instance. However, a second CT temporal bone study performed 3 years later demonstrated bilateral demineralisation of the ossicles and abnormal lucency affecting both the otic capsules. Read More

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http://dx.doi.org/10.1016/j.radcr.2019.09.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849424PMC
January 2020

HR-pQCT Measures of Bone Microarchitecture Predict Fracture: Systematic Review and Meta-Analysis.

J Bone Miner Res 2020 Mar 19;35(3):446-459. Epub 2019 Nov 19.

Research Center, Shriners Hospital for Children, Montreal, Canada.

High-resolution peripheral quantitative computed tomography (HR-pQCT) is a noninvasive imaging modality for assessing volumetric bone mineral density (vBMD) and microarchitecture of cancellous and cortical bone. The objective was to (1) assess fracture-associated differences in HR-pQCT bone parameters; and (2) to determine if HR-pQCT is sufficiently precise to reliably detect these differences in individuals. We systematically identified 40 studies that used HR-pQCT (39/40 used XtremeCT scanners) to assess 1291 to 3253 and 3389 to 10,687 individuals with and without fractures, respectively, ranging in age from 10. Read More

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http://dx.doi.org/10.1002/jbmr.3901DOI Listing
March 2020
6.832 Impact Factor

Acetabular Protrusio in Patients With Osteogenesis Imperfecta: Risk Factors and Progression.

J Pediatr Orthop 2019 Nov/Dec;39(10):e750-e754

Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, NY.

Background: Osteogenesis imperfecta (OI) is a genetic disorder commonly associated with osteopenia, osteoporosis, bone fractures, bone deformities, and other clinical features. A frequent radiologic finding with OI is acetabular protrusio (AP). We hypothesized that AP develops in patients with OI over time. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001051DOI Listing
January 2020
7 Reads

Distal Femur Insufficiency Fracture in a Pediatric Patient: An Atypical Presentation of Osteogenesis Imperfecta: A Case Report.

JBJS Case Connect 2019 Jul-Sep;9(3):e0317

Department of Orthopaedic Surgery and Rehabilitation, The University of Texas Medical Branch, Galveston, Texas.

Case: We present an unusual case of a distal metaphyseal femur insufficiency fracture in an adolescent with a history of multiple low-energy appendicular fractures. A genetic workup was significant for a variant of unknown significance to the Col1A1 gene.

Conclusions: To our knowledge, this is the first report of this collagen gene variant as a risk factor for multiple fractures. Read More

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http://dx.doi.org/10.2106/JBJS.CC.18.00317DOI Listing

Young Female With Pain in the Left Leg.

Ann Emerg Med 2019 10;74(4):e75-e76

Department of Medicine, St. Vincent's Medical Center, Bridgeport, CT.

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http://dx.doi.org/10.1016/j.annemergmed.2019.03.029DOI Listing
October 2019

Quantification of collagen structural changes during chick corneal development.

J Biophotonics 2020 Jan 6;13(1):e201900144. Epub 2019 Nov 6.

Department of Physics, National Taiwan University, Taipei, Taiwan, ROC.

As the most abundant structural mammalian protein, collagen has been implicated in the pathogenesis of numerous diseases such as osteogenesis imperfecta, and cancer. In the case of cornea, abnormal cornea development can lead to conditions such as agenesis, megalocornea, microcornea, and cornea plana. Therefore, understanding the mechanisms of collagen assembly during development may contribute to the prevention or treatment of corneal diseases. Read More

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http://dx.doi.org/10.1002/jbio.201900144DOI Listing
January 2020
2 Reads

Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Dec 17;128(6):621-630. Epub 2019 Jul 17.

Adjunct Professor, Department of Clinical Dentistry, Federal University of Ceará, Fortaleza, Brazil. Electronic address:

Objective: This study aimed to assess the prevalence of dental findings on panoramic radiographs (PRs) of patients with osteogenesis imperfecta (OI) and correlate these results with epidemiologic and medical data.

Study Design: A case-control study was conducted with 24 patients with OI and 48 sex- and age-matched controls. Demographic, clinical, and bisphosphonate regimen-related data were recorded. Read More

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http://dx.doi.org/10.1016/j.oooo.2019.07.001DOI Listing
December 2019
2 Reads

Management of Catastrophic Proximal Junctional Failure Following Spinal Deformity Correction in an Adult with Osteogenesis Imperfecta: Case Report and Technical Note.

World Neurosurg 2019 Nov 6;131:154-158. Epub 2019 Aug 6.

The Centre for Spinal Studies and Surgery, Queens Medical Centre Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.

Background: Proximal junctional failure (PJF) is a major and sometimes devastating problem following adult spinal deformity (ASD) correction surgery. Common consensus still lags on guidelines for preventing and managing these complications. Surgical treatment of scoliosis in the presence of osteogenesis imperfecta (OI) in the pediatric population is well described. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.07.230DOI Listing
November 2019
1 Read

Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients.

Spine (Phila Pa 1976) 2019 Aug;44(15):1057-1063

Hospital for Special Surgery, New York, NY.

Study Design: Retrospective clinical study of individuals with osteogenesis imperfecta (OI).

Objective: To assess the relationship between severity of scoliosis and pulmonary function, and to assess the relationship between restrictive lung disease and self-reported quality of life in individuals with OI.

Summary Of Background Data: OI is a heritable connective tissue disorder characterized by osteopenia and a predisposition to fracture. Read More

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http://dx.doi.org/10.1097/BRS.0000000000003012DOI Listing
August 2019
2 Reads

Hearing impairment and osteogenesis imperfecta: Literature review.

Eur Ann Otorhinolaryngol Head Neck Dis 2019 Oct 13;136(5):379-383. Epub 2019 Jun 13.

Service ORL, hôpital Necker-enfants malades, 149, rue de Sèvres, 75015 Paris, France.

The goal is to clarify the epidemiology of hearing loss in patients with osteogenesis imperfecta (OI), so as to improve management. A literature review analyzed data from 15 patient series. Hearing loss prevalence in OI varied widely, from 2% to 94. Read More

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http://dx.doi.org/10.1016/j.anorl.2019.05.004DOI Listing
October 2019
9 Reads

Solanum muricatum Ameliorates the Symptoms of Osteogenesis Imperfecta In Vivo.

J Food Sci 2019 Jun 22;84(6):1646-1650. Epub 2019 May 22.

Dept. of Pediatric Surgery, the First Affiliated Hospital of Zhengzhou Univ., No. 1 Jianshe Rd., Zhengzhou, 450052, Henan, China.

Pepino (Solanum muricatum), which is an evergreen plant native to South America, is well-known for its effects in antioxidation, antidiabetic activity, anti-inflammation, and antitumor activity. A previous study in our lab indicated that Solanum muricatum (SM) extract promoted osteogenic differentiation by upregulating Wnt and BMP signaling pathway in rat bone marrow stromal cells. The osteogenesis imperfecta (OI) mouse model was used in order to further discover the osteogenic properties of SM extract in the present research. Read More

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http://dx.doi.org/10.1111/1750-3841.14637DOI Listing
June 2019
6 Reads

Accumulation of microdamage and low bone mass in the femoral head as a cause of subchondral insufficiency fracture in a patient with osteogenesis imperfecta.

J Bone Miner Metab 2019 Sep 11;37(5):768-772. Epub 2019 May 11.

Department of Orthopedic Surgery, Faculty of Medicine, Kagawa University, 1750-1 Ikenobe, Miki-cho, Kita-gun, Kagawa, 761-0793, Japan.

Subchondral insufficiency fractures of the femoral head are generally considered to be osteoporosis-related fragility fractures. There have been reports of microfractures being found in subchondral bone on pathological examination. However, the mechanism of these microfractures is not known. Read More

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http://dx.doi.org/10.1007/s00774-019-01006-yDOI Listing
September 2019
10 Reads

Use of sliding transphyseal flexible intramedullary nailing in pediatric osteogenesis imperfecta patients.

Acta Orthop Belg 2019 Mar;85(1):1-11

In our country, the sliding Flexible Intramedullary Nailing is used alone or in combination with Ilizarov frame in children with osteogenesis imperfecta. The study assesses the results of sliding intramedullary nailing in deformity correction in severe types of osteogenesis imperfecta. We retrospectively reviewed 17 consecutive cases (mean age 5. Read More

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March 2019
9 Reads

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
12 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
March 2019
27 Reads

Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report.

BMC Musculoskelet Disord 2019 Feb 23;20(1):92. Epub 2019 Feb 23.

Department of Orthopedic Surgery, Showa University School of Medicine, 1-5-8 Hatanodai Shinagawa-ku, Tokyo, 142-8555, Japan.

Background: Gnathodiaphyseal dysplasia (GDD) is an extremely rare autosomal dominant disease characterized by cemento-osseous lesions in the jawbones, bone fragility, and diaphyseal sclerosis of the tubular bones. Patients with GDD are prone to sustain fractures by minor accidents. Although over 80 cases have been reported, detailed information about the orthopedic treatment of the fractures is limited. Read More

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https://bmcmusculoskeletdisord.biomedcentral.com/articles/10
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http://dx.doi.org/10.1186/s12891-019-2464-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387549PMC
February 2019
14 Reads

Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view.

J Pediatr Orthop B 2019 Sep;28(5):505-508

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
September 2019
6 Reads

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Nat Med 2019 03 28;25(3):439-447. Epub 2019 Jan 28.

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

Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus. However, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence. Here we report on the development and validation of, and early clinical experience with, a new approach for non-invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases. Read More

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http://www.nature.com/articles/s41591-018-0334-x
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http://dx.doi.org/10.1038/s41591-018-0334-xDOI Listing
March 2019
48 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
44 Reads

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

Osteoporos Int 2019 May 23;30(5):939-948. 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

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http://dx.doi.org/10.1007/s00198-019-04842-wDOI Listing
May 2019
3 Reads

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

Eur J Med Genet 2019 Dec 26;62(12):103606. 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

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http://dx.doi.org/10.1016/j.ejmg.2018.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594916PMC
December 2019
10 Reads

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

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http://dx.doi.org/10.3390/ma11122533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316674PMC
December 2018
35 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

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http://dx.doi.org/10.1097/BPO.0000000000001273DOI Listing
January 2019
21 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

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

Central nervous system toxicity due to mefenamic acid.

Am J Emerg Med 2019 03 17;37(3):561.e1-561.e2. 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

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http://dx.doi.org/10.1016/j.ajem.2018.11.027DOI Listing
March 2019
3 Reads

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

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

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Am J Med Genet A 2018 12 21;176(12):2882-2886. Epub 2018 Nov 21.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

Cole-Carpenter syndrome is a rare skeletal dysplasia associated with low-bone mass or an osteogenesis imperfecta (OI)-like syndrome. Only 3 and 6 variants in SEC24D have been reported in patients with Cole-Carpenter syndrome type 2 and autosomal recessive OI, respectively. We describe a 15-year-old Japanese boy with short stature of the short-trunk type and craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Read More

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http://dx.doi.org/10.1002/ajmg.a.40643DOI Listing
December 2018
6 Reads

Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series.

Osteoporos Int 2019 Feb 17;30(2):513-517. Epub 2018 Nov 17.

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 165, Aarhus N, 8200, Aarhus, Denmark.

Atypical femoral fractures (AFFs) are low-energy femoral fractures with characteristic radiological features and a suspected relation to treatment with bisphosphonate (BP) or denosumab. In osteogenesis imperfecta (OI), BP is currently the drug of choice when medical treatment is indicated. Due to bone deformities, the radiologic appearance of femoral fractures may be different in patients with OI and patients with osteoporosis. Read More

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http://link.springer.com/10.1007/s00198-018-4769-1
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http://dx.doi.org/10.1007/s00198-018-4769-1DOI Listing
February 2019
10 Reads

Basilar impression in osteogenesis imperfecta treated with staged halo traction and posterior decompression with short-segment fusion.

J Craniovertebr Junction Spine 2018 Jul-Sep;9(3):212-215

Department of Orthopaedics, Nemours/Alfred I. Dupont Hospital for Children, Wilmington, Delaware, USA.

Basilar impression is a cranial base abnormality associated with osteogenesis imperfecta (OI) with serious neurologic implications but controversial treatment options. Combined anterior and posterior decompression with long-segment posterior fusion is often recommended. We report a patient with OI (Sillence type III) with basilar impression treated with halo traction followed by posterior surgery. Read More

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http://www.jcvjs.com/text.asp?2018/9/3/212/242819
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http://dx.doi.org/10.4103/jcvjs.JCVJS_63_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187899PMC
November 2018
31 Reads

Multimodal imaging in a young male with osteogenesis imperfecta complicated with choroidal neovascularization.

Eur J Ophthalmol 2020 Jan 8;30(1):NP21-NP24. Epub 2018 Nov 8.

Department of Ophthalmology, IRCCS - Fondazione Bietti, Rome, Italy.

Purpose: To evaluate the role of multimodal imaging in the diagnosis and monitoring of patients with osteogenesis imperfecta complicated with choroidal neovascularization.

Case Report: A 28-year-old man, diagnosed with osteogenesis imperfecta, was referred 2 months after the appearance of central scotoma and metamorphopsia in the right eye. The patient underwent a complete ophthalmological evaluation including visual acuity examination as well as ophthalmoscopy, spectral-domain optical coherence tomography, optical coherence tomography angiography, fundus autofluorescence imaging, fluorescein angiography and microperimetry. Read More

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http://journals.sagepub.com/doi/10.1177/1120672118811247
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http://dx.doi.org/10.1177/1120672118811247DOI Listing
January 2020
20 Reads

Cortical bone properties in the Brtl/+ mouse model of Osteogenesis imperfecta as evidenced by acoustic transmission microscopy.

J Mech Behav Biomed Mater 2019 02 11;90:125-132. Epub 2018 Oct 11.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.

Higher skeletal fragility has been established for the Brtl/+ mouse model of osteogenesis imperfecta at the whole bone level, but previous investigations of mechanical properties at the bone material level were inconclusive. Bone material was analyzed separately at endosteal (ER) and periosteal regions (PR) on transverse femoral midshaft sections for 2-month old mice (wild-type n = 6; Brtl/+ n = 6). Quantitative backscattered electron imaging revealed that the mass density computed from mineral density maps was higher in PR than in ER for both wild-type (+2. Read More

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http://dx.doi.org/10.1016/j.jmbbm.2018.10.010DOI Listing
February 2019
2 Reads

Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing.

Eur J Obstet Gynecol Reprod Biol 2019 Apr 9;235:128-129. Epub 2018 Oct 9.

Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03012115183102
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http://dx.doi.org/10.1016/j.ejogrb.2018.10.022DOI Listing
April 2019
6 Reads

TBS as a Tool to Differentiate the Impact of Antiresorptives onCortical and Trabecular Bone in Children With OsteogenesisImperfecta.

J Clin Densitom 2019 Apr - Jun;22(2):229-235. Epub 2018 Sep 8.

Children's Hospital, University Hospital Cologne, Cologne, Germany; Cologne Centre for Rare Skeletal Dysplasia in Childhood, University Hospital Cologne, Cologne, Germany.

Introduction/background: Osteogenesis imperfecta is a hereditary connective tissue disorder, resulting in low bone mass and high bone fragility. Dual-energy X-ray absorptiometry (DXA) and in adulthood also the trabecular bone score (TBS) are well established to assess bone health and fracture risk. The purpose of this investigation was to assess the usefulness of TBS in respect to different treatment regimes in children with osteogenesis imperfecta. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10946950183013
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http://dx.doi.org/10.1016/j.jocd.2018.09.001DOI Listing
June 2020
3 Reads

Zebra stripe sign: Transverse sclerotic lines in the long bones.

J Med Imaging Radiat Oncol 2018 Oct;62 Suppl 1:169-170

Department of Radiology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

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http://dx.doi.org/10.1111/1754-9485.38_12786DOI Listing
October 2018
3 Reads

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.

Am J Med Genet A 2019 01 5;179(1):65-70. Epub 2018 Oct 5.

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

Severe forms of osteogenesis imperfecta (OI) are usually caused by mutations in genes that code for collagen Type I and frequently are associated with craniofacial abnormalities. However, the dental and craniofacial characteristics of OI caused by the p.Ser40Leu mutation in the IFITM5 gene have not been reported. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40383
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http://dx.doi.org/10.1002/ajmg.a.40383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347491PMC
January 2019
35 Reads

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

Pediatr Radiol 2019 01 3;49(1):3-22. Epub 2018 Oct 3.

Aoba Ward, Miyagi Children's Hospital, Sendai, Miyagi Prefecture, Japan.

Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e. Read More

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http://link.springer.com/10.1007/s00247-018-4239-0
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http://dx.doi.org/10.1007/s00247-018-4239-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313373PMC
January 2019
57 Reads
1.651 Impact Factor

Heterozygous WNT1 variant causing a variable bone phenotype.

Am J Med Genet A 2018 11 24;176(11):2419-2424. Epub 2018 Sep 24.

University of California, San Diego, La Jolla, California.

Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I collagen; at least 17 other genes have been associated with OI. Biallelic loss-of-function mutations in WNT1 cause severe OI. Read More

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http://dx.doi.org/10.1002/ajmg.a.40347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289778PMC
November 2018
2 Reads

Using a corkscrew-tipped telescopic nail in the treatment of osteogenesis imperfecta: a biomechanical study and preliminary results of 17 consecutive cases.

J Pediatr Orthop B 2019 Mar;28(2):173-178

Department of Pathology, Bezmialem Vakif University, Istanbul.

High complication rates were reported with the telescopic nail technique systems. To overcome such technical difficulties, we designed a corkscrew-tipped telescopic nail (CTTN). We biomechanically compared its pullout strength with that of two other tip designs. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000537DOI Listing
March 2019
13 Reads

Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III.

J Pediatr Orthop B 2019 Mar;28(2):179-185

Department of Anatomical, Histological, Forensic Medicine and Locomotive System Sciences.

Osteogenesis imperfecta (OI) is a rare congenital osteodystrophy. Patients with OI present with osteoporosis, extreme bone fragility and severe deformities of the lower limbs, which predispose them to frequent fractures. The aim of our study is to describe the minimally invasive osteotomy technique to correct the tibial deformities in patients with OI type III, using the Fassier-Duval (FD) intramedullary nailing, which is considered the gold standard in this kind of surgery. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000536DOI Listing
March 2019
8 Reads

Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy.

J Bone Miner Metab 2019 May 5;37(3):545-553. Epub 2018 Sep 5.

Department of Orthopedic Surgery, Faculty of Medicine, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.

The purpose of this study was to clarify the prevalence of scoliosis and determine risk factors for the development of scoliosis in young children with osteogenesis imperfecta (OI) who underwent intravenous pamidronate (PAM) therapy. Thirty-four young children with OI who had no scoliosis at the first PAM administration underwent cyclic PAM therapy alone. The medical records and radiographs of these patients were retrospectively reviewed. Read More

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http://dx.doi.org/10.1007/s00774-018-0952-xDOI Listing
May 2019
26 Reads

Dual Interlocking Telescopic Rod Provides Effective Tibial Stabilization in Children With Osteogenesis Imperfecta.

Clin Orthop Relat Res 2018 11;476(11):2238-2246

C. H. Shin, W. J. Yoo, I. H. Choi, T.-J. Cho, Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea D. J. Lee, Department of Orthopaedic Surgery, Kangwon National University Hospital, Chuncheon, Republic of Korea.

Background: Interlocking telescopic rods for the management of osteogenesis imperfecta (OI)-related long bone fractures are a modification of the Sheffield rod. An interlocking pin anchors the obturator at the distal epiphysis, which spares the distal joint, while a T-piece anchors the sleeve at the proximal epiphysis. However, these devices are associated with some problems, including failure to elongate and difficulty with removal. Read More

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http://Insights.ovid.com/crossref?an=00003086-900000000-9841
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http://dx.doi.org/10.1097/CORR.0000000000000429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260010PMC
November 2018
3 Reads

Atypical femur fracture in a woman with osteogenesis imperfecta and multiple myeloma.

J Musculoskelet Neuronal Interact 2018 09;18(3):375-381

Division of Endocrinology and Metabolism, McGill University, Montreal, Canada.

Use of intravenous bisphosphonates has been demonstrated to improve clinical outcomes in children with osteogenesis imperfecta (OI). However, efficacy and safety of bisphosphonates in adults with OI remains unclear. Atypical femur fractures (AFF) are rare insufficiency fractures associated with long-term bisphosphonate use. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146197PMC
September 2018
8 Reads

Dental imaging of trabecular bone structure for systemic disorder screening: A systematic review.

Oral Dis 2019 May 17;25(4):1009-1026. Epub 2018 Sep 17.

Health Sciences Faculty, University of Brasília, Brasília, Brazil.

The purpose of this systematic review was to evaluate the potential use of dental imaging assessment of trabecular bone structure in the maxillomandibular complex as an adjuvant screening tool to identify systemic disorders. Five electronic databases and grey literature were searched. Studies were included if they investigated subjects with altered trabecular bone determined by dental radiographs. Read More

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http://dx.doi.org/10.1111/odi.12950DOI Listing
May 2019
9 Reads

Temporal Bone Imaging Features in Osteogenesis Imperfecta.

J Belg Soc Radiol 2017 Aug 11;101(1):27. Epub 2017 Aug 11.

Ziekenhuizen Oost-Limburg, Genk, BE.

We present the case of a 33-year old woman with osteogenesis imperfecta (OI) with progressive hearing loss and persisting vertigo. On CT-scan, symmetric extensive lucency in the pericochlear bony otic capsule and promontorium was demonstrated. The MRI-scan demonstrated symmetric areas of increased signal intensity on the T2-images with moderate contrast enhancement in the same regions. Read More

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http://dx.doi.org/10.5334/jbr-btr.1321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032794PMC
August 2017
4 Reads