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Osteogenesis imperfecta

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https://www.readbyqxmd.com/read/28812463/novel-col1a1-mutation-c-3290g-t-associated-with-severe-form-of-osteogenesis-imperfecta-in-a-fetus
#1
Laura Tanner, Paula Vainio, Minna Sandell, Jukka Laine
Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28810924/mutational-analysis-of-col1a1-and-col1a2-genes-among-estonian-osteogenesis-imperfecta-patients
#2
Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country. METHODS: We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations...
August 15, 2017: Human Genomics
https://www.readbyqxmd.com/read/28802583/cytoskeleton-and-nuclear-lamina-affection-in-recessive-osteogenesis-imperfecta-a-functional-proteomics-perspective
#3
Assunta Gagliardi, Roberta Besio, Chiara Carnemolla, Claudia Landi, Alessandro Armini, Mona Aglan, Ghada Otaify, Samia A Temtamy, Antonella Forlino, Luca Bini, Laura Bianchi
Osteogenesis imperfecta (OI) is a collagen-related disorder associated to dominant, recessive or X-linked transmission, mainly caused by mutations in type I collagen genes or in genes involved in type I collagen metabolism. Among the recessive forms, OI types VII, VIII, and IX are due to mutations in CRTAP, P3H1, and PPIB genes, respectively. They code for the three components of the endoplasmic reticulum complex that catalyzes 3-hydroxylation of type I collagen α1Pro986. Under-hydroxylation of this residue leads to collagen structural abnormalities and results in moderate to lethal OI phenotype, despite the exact molecular mechanisms are still not completely clear...
August 9, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28799995/fassier-duval-telescopic-system-how-i-do-it
#4
Francois Fassier
The author describes step-by-step the technique for Fassier-Duval rodding of both femurs and tibiae in osteogenesis imperfecta. Preoperative evaluations and planning, postoperative care and place of bisphosphonates as explained. Emphasis is given on the different tricks to avoid intraoperative problems.
September 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28799316/mirror-aneurysm-with-right-frontal-ich-in-a-patient-with-osteogenesis-imperfecta
#5
Vijay Sardana, Sumit Kamble, Sunil K Sharma, Dilip Maheshwari, Bharat Bhushan
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders that occur owing to the abnormalities in type 1 collagen, and is characterized by increased bone fragility and other extraskeletal manifestations. OI may be associated with vascular complications such as aortic and cervical artery dissection, carotid cavernous fistula, and coronary artery aneurysms but unlike other connective tissue diseases, the cerebrovascular system is less frequently involved. We report rare case of 50 year female patient who was diagnosed with OI following right frontal haemorrhage secondary to a ruptured middle cerebral artery mirror aneurysm...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28796986/evaluation-of-stomatognathic-problems-in-children-with-osteogenesis-imperfecta-osteogenesis-imperfecta-oi-preliminary-study
#6
Danuta Smoląg, Małgorzata Kulesa-Mrowiecka, Jerzy Sułko
According to epidemiological data, muscular dysfunctions of the masticatory system occur in 15-23% of the population. Preventive examinations of functional disorders of the stomatognathic system are, therefore, of particular importance. A distinct group of patients exposed to dysfunctions in the area of the masticatory organ locomotor apparatus comprises those with genetic diseases characterised by disorders in collagen formation. One of such diseases is osteogenesis imperfecta (OI) and dentinogenesis imperfecta that usually goes together with the former...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28783850/fetal-skeletal-lethal-dysplasia-case-report
#7
Alexandre Mello Savoldi, Maria Auxiliadora Monteiro Villar, Heloisa Novaes Machado, Juan C Llerena Júnior
The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant...
August 7, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28777275/gait-deviations-in-children-with-osteogenesis-imperfecta-type-i
#8
Christina R Garman, Adam Graf, Joseph Krzak, Angela Caudill, Peter Smith, Gerald Harris
BACKGROUND: Osteogenesis imperfecta (OI) is a congenital connective tissue disorder often characterized by orthopaedic complications that impact normal gait. As such, mobility is of particular interest in the OI population as it is associated with multiple aspects of participation and quality of life. The purpose of the current study was to identify and describe common gait deviations in a large sample of individuals with type I OI and speculate the etiology with a goal of improving function...
August 2, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#9
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28751993/multiple-spontaneous-intracranial-extracranial-arterial-dissections-in-a-patient-with-osteogenesis-imperfecta
#10
Mehmet Kolukısa, Elif Gökçal, Azize Esra Gürsoy, Çiğdem Deniz, Ayşe Aralaşmak, Talip Asil
A 40-year-old male with osteogenesis imperfecta (OI) was admitted to the hospital with an acute right monoparesis. Diffusion-weighted MRI showed infarction in the territory of the left anterior cerebral artery (ACA) and in the left posterior cerebral artery (PCA). In his vascular imaging, occlusion of the left vertebral artery (VA) starting from V2 segment was consistent with dissection and pseudoaneurysm in the right ACA. We presented this case because of the presence of spontaneous and simultaneous occurrence of both intracranial and extracranial arterial dissections in OI...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28742716/management-of-scoliosis-in-children-with-osteogenesis-imperfecta
#11
Courtney O'Donnell, Nikki Bloch, Nicole Michael, Mark Erickson, Sumeet Garg
No abstract text is available yet for this article.
July 25, 2017: JBJS Reviews
https://www.readbyqxmd.com/read/28737193/-vertebral-fractures-in-children-with-type-i-osteogenesis-imperfecta
#12
Andrea M Sepúlveda, Claudia V Terrazas, Josefina Sáez, María L Reyes
Osteogenesis imperfecta (OI) is an hereditary disease affecting conective tissue, mainly associated to growth retardation and pathological fractures. OI type I (OI type I), is the mildest, most often, and homogeneous in its fenotype. Vertebral fractures are the most significant complications, associated to skeletical and cardiopulmonary morbidity. OBJECTIVES: To characterize clinically a cohort of children with OI type I. PATIENTS AND METHODS: A cohort of OI type I children younger than 20 year old was evaluated...
June 2017: Revista Chilena de Pediatría
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
#13
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
#14
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
#15
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
#16
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 25, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28695180/custom-hemiarthroplasties-for-retention-of-existing-hardware-associated-with-osteogenesis-imperfecta
#17
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
#18
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
#19
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
#20
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
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