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imperfecta osteogenesis

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https://www.readbyqxmd.com/read/29051885/the-reversed-less-invasive-stabilisation-system-distal-femur-technique-application-in-an-adult-patient-with-osteogenesis-imperfecta-sustaining-a-femoral-fracture
#1
Markus S Hanke, Marius Johann Keel, Inga A Todorski, Johannes Dominik Bastian
INTRODUCTION: The aim of this study was to report the surgical management and to discuss the options for fracture fixation in an adult patient with osteogenesis imperfecta (OI) who sustained a trochanteric femoral fracture after a simple fall from standing position. CASE REPORT: As a result of multiple fractures during childhood, this adult patient with OI presented with a short stature. The radiographs revealed a displaced, intertrochanteric fracture with subtrochanteric extension of the left femur...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29051883/early-motor-delay-an-outstanding-initial-sign-of-osteogenesis-imperfecta-type-1
#2
Vito Pavone, Teresa Mattina, Piero Pavone, Raffaele Falsaperla, Gianluca Testa
INTRODUCTION: Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29044725/serum-sclerostin-levels-in-adults-with-osteogenesis-imperfecta-comparison-with-normal-individuals-and-response-to-teriparatide-therapy
#3
Lindsey Nicol, Ying Wang, Rosamund Smith, John Sloan, Sandesh C S Nagamani, Jay Shapiro, Brendan Lee, Eric Orwoll
Sclerostin (SOST), a glycoprotein primarily derived from osteocytes, is an important regulator of bone remodeling. Osteogenesis imperfecta ([1]) is a heritable disorder of bone characterized by low bone mass, bone fragility, recurrent fractures, and bone deformities. Altered SOST-mediated signaling may have a role in pathogenesis of type I collagen-related OI; however this has not been evaluated in humans. We measured serum SOST levels in adults with OI who were enrolled in a randomized, placebo-controlled clinical trial that evaluated the effects of osteoanabolic therapy with teriparatide...
October 17, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29037585/iatrogenic-mandibular-fracture-after-open-reduction-and-internal-fixation-in-a-patient-with-osteogenesis-imperfecta
#4
M-Y Kim, C-H Kim
To the best of our knowledge, this is the first report to discuss the possible mechanisms of an iatrogenic fracture during operation on an original mandibular fracture in a patient with osteogenesis imperfecta.
October 13, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/29036614/identification-of-a-candidate-mutation-in-the-col1a2-gene-of-a-chow-chow-with-osteogenesis-imperfecta
#5
E M Quist, R Doan, R R Pool, B F Porter, D L Bannasch, S V Dindot
Osteogenesis imperfecta (OI) is a genetic disease that occurs in humans and animals. Individuals with OI exhibit signs of extreme bone fragility and osteopenia with frequent fractures and perinatal lethality in severe cases. In this study, we report the clinical diagnosis of OI in a dog and the use targeted next-generation sequencing to identify a candidate autosomal dominant mutation in the COL1A2 gene. A five-month old male Chow Chow was examined with a fractured left humerus and resolving, bilateral femoral fractures...
September 19, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/29021887/a-modified-technique-of-fixation-for-proximal-femoral-valgus-osteotomy-in-abnormal-bone-a-report-of-two-cases
#6
S Logheswaren, A R Sulaiman, I Munajat
The ideal size of intramedullary device to fix corrective osteotomy of proximal femur in abnormal bone in children and small patients may not be easily available. We report the successful use of Rush rod in combination with multiple Kirschner wires to fix the corrective osteotomy of coxa vara and shepherd crook deformity in two patients with osteogenesis imperfecta and fibrous dysplasia. The union was achieved on time, neck shaft angle and rotation were maintained.
July 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28988680/macroscopic-anisotropic-bone-material-properties-in-children-with-severe-osteogenesis-imperfecta
#7
Carolyne Albert, John Jameson, Sergey Tarima, Peter Smith, Gerald Harris
Children with severe osteogenesis imperfecta (OI) typically experience numerous fractures and progressive skeletal deformities over their lifetime. Recent studies proposed finite element models to assess fracture risk and guide clinicians in determining appropriate intervention in children with OI, but lack of appropriate material property inputs remains a challenge. This study aimed to characterize macroscopic anisotropic cortical bone material properties and investigate relationships with bone density measures in children with severe OI...
September 14, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/28988216/efficacy-and-treatment-costs-of-zoledronate-versus-pamidronate-in-paediatric-osteoporosis
#8
Vrinda Saraff, Jaskiran Sahota, Nicola Crabtree, Sophia Sakka, Nicholas J Shaw, Wolfgang Högler
Intravenous pamidronate has been used in the treatment of osteogenesis imperfecta (OI) in children for over 20 years. The more potent zoledronate is an attractive alternative as it is administered less frequently. This study compares the clinical efficacy of intravenous pamidronate (1.5 mg/kg/day over 2 days, every 3 months) versus zoledronate (0.05 mg/kg/dose every 6 months) in 40 children (20 per group) with mild to moderate OI and the treatment costs of the two drugs in a tertiary centre for children with osteoporosis...
October 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28981938/-mutational-analysis-and-prenatal-diagnosis-of-col1a1-and-col1a2-genes-in-four-chinese-families-affected-with-osteogenesis-imperfecta
#9
Ying Bai, Xiangdong Kong, Ning Liu, Shumin Ren, Hongxiang Guo, Kaihui Zhao
OBJECTIVE: To detect potential mutations of COL1A1 and COL1A2 genes in four Chinese pedigrees affected with osteogenesis imperfecta (OI) and provide prenatal diagnosis for a fetus at 18th gestational week. METHODS: All coding regions and exon/intron boundaries of the COL1A1 and COL1A2 genes were analyzed with targeted next-generation sequencing (NGS). Suspected mutations were confirmed with Sanger sequencing in the probands, unaffected relatives and 200 unrelated healthy individuals...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28979858/using-humeral-nail-for-surgical-reconstruction-of-femur-in-adolescents-with-osteogenesis-imperfecta
#10
Paphon Sa-Ngasoongsong, Tanyawat Saisongcroh, Chanika Angsanuntsukh, Patarawan Woratanarat, Pornchai Mulpruek
Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder caused by mutation of collagen which results in a wide spectrum of clinical manifestations including long bone fragility fractures and deformities. While the treatment for these fractures was recommended as using intramedullary fixation for minimizing stress concentration, the selection of the best implant in the adolescent OI patients for the surgical reconstruction of femur was still problematic, due to anatomy distortion and implant availability...
September 18, 2017: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28977334/clinical-features-and-pattern-of-fractures-at-the-time-of-diagnosis-of-osteogenesis-imperfecta-in-children
#11
Evelise Brizola, Marina Bauer Zambrano, Bruna de Souza Pinheiro, Ana Paula Vanz, Têmis Maria Félix
OBJECTIVE: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. METHODS: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures...
April 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28971516/osteogenesis-imperfecta-and-keratoconus-in-an-italian-family
#12
Fabrizio Zeri, Peter G Swann, Shehzad Naroo
No abstract text is available yet for this article.
October 3, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28965204/dental-manifestations-of-pediatric-bone-disorders
#13
REVIEW
Juan F Yepes
PURPOSE OF REVIEW: Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental-oral manifestations: fibrous dysplasia, Paget's disease, osteogenesis imperfecta, renal osteodystrophy, hypophosphatasia, and osteoporosis. The specific intraoral characteristics will reviewed in detail. RECENT FINDINGS: Recent studies confirmed the close relationship between the mandible and the maxilla with the most prevalent systemic bone disorders in children...
September 30, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28956891/a-novel-de-novo-col1a1-mutation-in-a-thai-boy-with-osteogenesis-imperfecta-born-to-consanguineous-parents
#14
Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI...
September 21, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28953610/confirmation-of-the-pathogenicity-of-a-mutation-p-g337c-in-the-col1a2-gene-associated-with-osteogenesis-imperfecta
#15
Mingrui Jia, Ranran Shi, Xuli Zhao, Zhijian Fu, Zhijing Bai, Tao Sun, Xuejun Zhao, Wenbo Wang, Chao Xu, Fang Yan
Mutation analysis as the gold standard is particularly important in diagnosis of osteogenesis imperfecta (OI) and it may be preventable upon early diagnosis. In this study, we aimed to analyze the clinical and genetic materials of an OI pedigree as well as to confirm the deleterious property of the mutation.A pedigree with OI was identified. All family members received careful clinical examinations and blood was drawn for genetic analyses. Genes implicated in OI were screened for mutation. The function and structure of the mutant protein were predicted using bioinformatics analysis...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28938474/response-to-letter-the-effect-of-whole-body-vibration-training-on-bone-and-muscle-function-in-children-with-osteogenesis-imperfecta
#16
Wolfgang Högler, Nick Bishop, Peter Nightingale, Nick Shaw, Raja Padidela, Nicola Crabtree
No abstract text is available yet for this article.
August 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938436/comment-on-the-effect-of-whole-body-vibration-training-on-bone-and-muscle-function-in-children-with-osteogenesis-imperfecta
#17
Heike Hoyer-Kuhn, Eckhard Schoenau, Oliver Semler
No abstract text is available yet for this article.
August 30, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28924529/anterior-fontanelle-wormian-bone-fontanellar-bone-a-review-of-this-rare-anomaly-with-case-illustration
#18
Jaspreet Johal, Joe Iwanaga, Marios Loukas, R Shane Tubbs
Wormian bones are a relatively rare skeletal anomaly that present as accessory bone(s) within the sutures of the cranium and even more rarely within the fontanelles. It is believed that they arise from the formation of abnormal cranial ossification centers. Although not extensively reported in the literature, this anomaly is thought to be associated with other anatomical anomalies such as osteogenesis imperfecta, rickets, and other bone dysplasias. When located within the fontanelles, the most likely site of occurrence is the posterior fontanelle...
July 7, 2017: Curēus
https://www.readbyqxmd.com/read/28916840/a-novel-col1a2-c-propeptide-cleavage-site-mutation-causing-high-bone-mass-osteogenesis-imperfecta-with-a-regional-distribution-pattern
#19
T Rolvien, U Kornak, J Stürznickel, T Schinke, M Amling, S Mundlos, R Oheim
Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3...
September 15, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28916811/an-enu-induced-splice-site-mutation-of-mouse-col1a1-causing-recessive-osteogenesis-imperfecta-and-revealing-a-novel-splicing-rescue
#20
Koichi Tabeta, Xin Du, Kei Arimatsu, Mai Yokoji, Naoki Takahashi, Norio Amizuka, Tomoka Hasegawa, Karine Crozat, Tomoki Maekawa, Sayuri Miyauchi, Yumi Matsuda, Takako Ida, Masaru Kaku, Kasper Hoebe, Kinji Ohno, Hiromasa Yoshie, Kazuhisa Yamazaki, Eva Marie Y Moresco, Bruce Beutler
GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mature mRNA, underlying one common molecular mechanism of genetic diseases. Using N-ethyl-N-nitrosourea, a novel recessive mutation named seal was produced, associated with fragile bones and susceptibility to fractures (spine and limbs). A single nucleotide transversion (T → A) at the second position of intron 36 of the Col1a1 gene, encoding the type I collagen, α1 chain, was responsible for the phenotype...
September 15, 2017: Scientific Reports
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