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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/28725987/gene-mutation-spectrum-and-genotype-phenotype-correlation-in-a-cohort-of-chinese-osteogenesis-imperfecta-patients-revealed-by-targeted-next-generation-sequencing
#1
Y Liu, Asan, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, X Xing, W Yu, J Wang, J Sun, L Song, Y Zhu, H Yang, J Wang, M Li
The achievement of more accurate diagnosis would greatly benefit the management of patients with osteogenesis imperfecta (OI). In this study, we present the largest OI sample in China as screened by next generation sequencing. In particular, we successfully identified 81 variants, which included 45 novel variants. We further did a genotype-phenotype analysis, which helps make a better understanding of OI. INTRODUCTION: This study aims to reveal the gene mutation spectrum and the genotype-phenotype relationship among Chinese OI patients by next generation sequencing (NGS)...
July 19, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28723699/intraoperative-bleeding-in-patients-with-osteogenesis-imperfecta-type-iii-treated-by-fassier-duval-femoral-rodding-analysis-of-risk-factors
#2
Pietro Persiani, Maria V Pesce, Lorena Martini, Filippo M Ranaldi, Patrizia D'Eufemia, Anna Zambrano, Mauro Celli, Ciro Villani
The surgical treatment of osteogenesis imperfecta (OI) is negatively influenced by clinical features such as osteoporosis, limb deformities and bone changes caused by bisphosphonate therapy. Blood loss during femoral nailing surgeries in patients with OI is a serious problem. Platelet anomalies have been associated with an elevation of the serum pyrophosphate originating from the platelets during clotting, even if the causality with the platelet dysfunction has not yet been established. To identify predictive risk factors regarding intraoperative bleeding, a retrospective analysis was conducted on 23 patients aged between 6 and 13 years, affected by OI type III, who were treated to correct femoral deformities or to perform an osteosynthesis for femoral shaft fractures, using the Fassier-Duval telescopic nail...
July 18, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28716975/metabolic-phenotype-in-the-mouse-model-of-osteogenesis-imperfecta
#3
Iris Boraschi-Diaz, Josephine T Tauer, Omar El Rifai, Delphine Guillemette, Geneviève Lefebvre, Frank Rauch, Mathieu Ferron, Svetlana V Komarova
Osteogenesis Imperfecta (OI) is the most common heritable bone fragility disorder, usually caused by dominant mutations in genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Osteocalcin is now recognized as a bone-derived regulator of insulin secretion and sensitivity and glucose homeostasis. Since OI is associated with increased rates of bone formation and resorption, we hypothesized that the levels of undercarboxylated osteocalcin are increased in OI. The objective of this study was to determine changes in osteocalcin and to elucidate the metabolic phenotype in the Col1a1Jrt/+ mouse, a model of dominant OI caused by a Col1a1 mutation...
July 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28696707/cyclophilin-b-deficiency-causes-abnormal-dentin-collagen-matrix
#4
Masahiko Terajima, Yuki Taga, Wayne A Cabral, Masako Nagasawa, Noriko Sumida, Shunji Hattori, Joan C Marini, Mitsuo Yamauchi
Cyclophilin B (CypB) is an endoplasmic reticulum-resident protein that regulates collagen folding, and also contributes to prolyl 3-hydroxylation (P3H) and lysine (Lys) hydroxylation of collagen. In this study, we characterized dentin type I collagen in CypB null (KO) mice, a model of recessive osteogenesis imperfecta type IX, and compared to those of wild-type (WT) and heterozygous (Het) mice. Mass spectrometric analysis demonstrated that the extent of P3H in KO collagen was significantly diminished compared to WT/Het...
July 11, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28695180/custom-hemiarthroplasties-for-retention-of-existing-hardware-associated-with-osteogenesis-imperfecta
#5
Kevin Nishida, Daniel Choi, Mathias Bostrom
Osteogenesis imperfecta is a rare genetic disorder that presents with heterogeneous phenotypes ranging from brittle bones to impaired hearing. Because of the decreased bone mineral density frequently observed in this patient population, many patients experience recurring and long-term fractures, which often require orthopaedic management. With the advancement of nonsurgical and surgical management and increased longevity of patients with osteogenesis imperfecta, the incidence of osteoarthritis has risen, presenting new orthopaedic challenges...
June 2017: Arthroplasty Today
https://www.readbyqxmd.com/read/28692452/acetabular-protrusio-in-patients-with-osteogenesis-imperfecta-risk-factors-and-progression
#6
Junho Ahn, Erin Carter, Cathleen L Raggio, Daniel W Green
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. In addition, we hypothesized that AP also develops in patients with OI without radiographic evidence of AP on initial examination. METHODS: Medical records and radiographs of 55 patients (109 hips) diagnosed with OI evaluated at our institution were retrospectively reviewed...
July 7, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28689307/long-term-follow-up-in-osteogenesis-imperfecta-type-vi
#7
P Trejo, T Palomo, K Montpetit, F Fassier, A Sato, F H Glorieux, F Rauch
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies. INTRODUCTION: Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1. Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations...
July 9, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28684193/treatment-with-neridronate-in-children-and-adolescents-with-osteogenesis-imperfecta-data-from-open-label-not-controlled-three-year-italian-study
#8
L Idolazzi, A Fassio, O Viapiana, M Rossini, G Adami, F Bertoldo, F Antoniazzi, D Gatti
INTRODUCTION: The present study assessed the long-term efficacy and safety of intravenous (i.v.) neridronate in children and adolescents affected by osteogenesis imperfecta (OI). METHODS: 55 young patients (mean age 12.6±3.9years) affected by OI were included in the study. Neridronate was administered by i.v. infusion at a dose of 2mg/kg (maximum dose of 100mg) at intervals of three-months for three years. Dual X-ray absorptiometry of the lumbar spine, hip and ultradistal and proximal radius were evaluated every 6months...
July 3, 2017: Bone
https://www.readbyqxmd.com/read/28676897/health-related-quality-of-life-in-adults-with-osteogenesis-imperfecta
#9
Jannie Dahl Hald, Lars Folkestad, Torben Harsløf, Kim Brixen, Bente Langdahl
Osteogenesis imperfecta (OI) is a systemic connective tissue disorder most often caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. It is unknown whether the systemic effect of defect collagen type 1 influences the quality of life in patients with OI. We therefore aimed to investigate health-related quality of life (HRQoL) in a well-characterized cohort of adult patients with OI. We included 85 adult patients with mild to severe OI (types I, III, and IV) and obtained information about skeletal- and non-skeletal phenotypes and patient demographics...
July 4, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28674909/comparative-x-ray-morphometry-of-prenatal-osteogenesis-imperfecta-type-2-and-thanatophoric-dysplasia-a-contribution-to-prenatal-differential-diagnosis
#10
Maria Pia Bondioni, Ugo Ernesto Pazzaglia, Claudia Izzi, Giuseppe Di Gaetano, Francesco Laffranchi, Maurizia Baldi, Federico Prefumo
OBJECTIVE: The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis imperfecta type 2 (OI-2). METHOD: The diaphyseal length and the bowed shape of long bones associated with vertebral body dimension assessment were investigated in a group of 14 pregnancy terminations carried out in the time period 2007-2013...
July 3, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28668235/severe-hypotonia-and-postnatal-growth-impairment-in-a-girl-with-a-missense-mutation-in-col1a1-implication-of-expanded-phenotypic-spectrum-of-type-i-collagenopathy
#11
Jin Sook Lee, Jieun Seo, Anna Cho, Byung Chan Lim, Murim Choi, Jung-Wook Kim, Ok-Hwa Kim, Tae-Joon Cho, Jong-Hee Chae
BACKGROUND: It is known that type I collagenopathy has a broad-spectrum phenotypic variability. Here, we report a case of a Korean girl with a heterozygous COL1A1 mutation who had an atypical presentation. CASE PRESENTATION: A 26-month-old girl presented with delayed motor development and failure to thrive. She had severe growth retardation. She exhibited right-sided plagiocephaly, blue sclerae, and facial dysmorphism, including a small pointed chin, frontal bossing, and a triangular face, but had microcephaly...
June 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28665926/exome-sequencing-revealed-a-novel-homozygous-splice-site-variant-in-wnt1-gene-underlying-osteogenesis-imperfecta-type-3
#12
Muhammad Umair, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B Haack, Elisabeth Graf, Asmat Ullah, Farooq Ahmad, Tim M Strom, Thomas Meitinger, Wasim Ahmad
BACKGROUND: Osteogenesis Imperfecta (OI) is a heritable bone fragility disorder usually caused by dominant variants in COL1A1 or COL1A2 genes. Over the last few years, seventeen genes including twelve autosomal recessive and five autosomal dominant forms of OI, involved in various aspects of bone formation, have been identified. METHODS: Whole exome sequencing followed by conventional Sanger sequencing was performed in single affected individual IV-3 in the present family...
June 30, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28655963/a-novel-approach-to-the-anaesthetic-management-of-a-case-of-osteogenesis-imperfecta
#13
Jasveer Singh, Preeti Sharma, Sukanya Mitra
No abstract text is available yet for this article.
June 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#14
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28628032/osteocyte-specific-wnt1-regulates-osteoblast-function-during-bone-homeostasis
#15
Kyu Sang Joeng, Yi-Chien Lee, Joohyun Lim, Yuqing Chen, Ming-Ming Jiang, Elda Munivez, Catherine Ambrose, Brendan H Lee
Mutations in WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosis, identifying it as a key Wnt ligand in human bone homeostasis. However, how and where WNT1 acts in bone are unclear. To address this mechanism, we generated late-osteoblast-specific and osteocyte-specific WNT1 loss- and gain-of-function mouse models. Deletion of Wnt1 in osteocytes resulted in low bone mass with spontaneous fractures similar to that observed in OI patients. Conversely, Wnt1 overexpression from osteocytes stimulated bone formation by increasing osteoblast number and activity, which was due in part to activation of mTORC1 signaling...
June 30, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28626166/efficacy-of-denosumab-for-osteoporosis-in-three-female-patients-with-osteogenesis-imperfecta
#16
Masashi Uehara, Yukio Nakamura, Jun Takahashi, Mikio Kamimura, Shota Ikegami, Takako Suzuki, Shigeharu Uchiyama, Tomomi Yamaguchi, Tomoki Kosho, Hiroyuki Kato
Osteogenesis imperfecta (OI) is an inherited bone disorder that causes fractures due to impaired production of collagen type I. In recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis. This study investigated osteoporotic cases of OI to examine effects of denosumab on bone fragility. This was a retrospective, consecutive case series that included 3 female patients aged 42, 40, and 14 years, respectively...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28625337/osteogenesis-imperfecta-a-clinical-update
#17
Symeon Tournis, Anastasia D Dede
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. 85%-90% of cases are inherited in an autosomal dominant manner and are caused by mutations in the COL1A1 and COL1A2 genes, leading to quantitative or qualitative defects in type 1 collagen. In the last decade, defects in several other proteins involved in the normal processing of type 1 collagen have been described...
June 8, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28614531/alternative-option-for-osteogenesis-imperfecta-and-trigeminal-neuralgia
#18
Leonardo Gilmone Ruschel, Guilherme José Agnoletto, Sonival Cândido Hunhevicz, Daniel Benzecry de Almeida, Walter Oleschko Arruda
Osteogenesis imperfecta (OI) is a bone disorder that can lead to skull base deformities such as basilar invagination, which can cause compression of cranial nerves, including the trigeminal nerve. Trigeminal neuralgia in such cases remains a challenge, given distorted anatomy and deformities. We present an alternative option, consisting in cannulation of the foramen ovale and classical percutaneous treatment. Percutaneous balloon microcompression was performed in a 28 year-old woman with OI and severe trigeminal neuralgia using computed tomography (CT) and radiographic-guided cannulation of the Gasserian ganglion without neuronavigation or stereotactic devices...
April 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28605746/pls3-mutations-in-x-linked-osteoporosis-clinical-and-bone-characteristics-of-two-novel-mutations
#19
Peter Kannu, Areej Mahjoub, Riyana Babul-Hirji, Melissa T Carter, Jennifer Harrington
BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole gene PLS3 deletion, and review the literature on 9 previously reported cases. RESULTS: Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures. Heterozygous female carriers did not have a history of fragility fractures, although 1 individual presented with low BMD...
June 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28600151/splenomegaly-myeloid-lineage-expansion-and-increased-osteoclastogenesis-in-osteogenesis-imperfecta-murine
#20
Brya G Matthews, Emilie Roeder, Xi Wang, Hector Leonardo Aguila, Sun-Kyeong Lee, Danka Grcevic, Ivo Kalajzic
Osteogenesis imperfecta (OI) is a disease caused by defects in type I collagen production that results in brittle bones. While the pathology is mainly caused by defects in the osteoblast lineage, there is also elevated bone resorption by osteoclasts resulting in high bone turnover in severe forms of the disease. Osteoclasts originate from hematopoietic myeloid cells, however changes in hematopoiesis have not been previously documented in OI. In this study, we evaluated hematopoietic lineage distribution and osteoclast progenitor cell frequency in bone marrow, spleen and peripheral blood of osteogenesis imperfecta murine (OIM) mice, a model of severe OI...
June 7, 2017: Bone
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