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Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

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Chinese Medical Journal 2019年第2期132卷 145-153页

作者： Lu-Jiao Li Fang Lyu Yu-Wen Song Ou Wang Yan Jiang Wei-Bo Xia Xiao-Ping Xing Mei Li Department of Endocrinology National Health Commission Key Laboratory of EndocrinologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China

Background:Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen.This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.Methods:A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study.The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing.A new clinical scoring system was developed to quantitatively assess the clinical severity of OI and the genotype-phenotype relationship was analyzed.The independent sample t-test, analysis of variance, Mann-Whitney U-test, Chi-squared test, Pearson correlation, and multiple linear regression were applied for statistical analyses.Results:Among 161 patients with OI, 32.9% missense mutations, 16.8% non-sense mutations, 24.2% splice-site mutations, 24.8% frameshift mutations, and 1.2% whole-gene deletions were identified, of which 38 variations were novel.These mutations led to 53 patients carrying qualitative defects and 67 patients carrying quantitative defects in type I collagen.Compared to patients with quantitative mutations, patients with qualitative mutations had lower alkaline phosphatase level (296 [132, 346] U/L vs.218 [136, 284] U/L, P=0.009) and higher clinical score (12.2 ± 5.3 vs.7.4 ± 2.4, Pimperfecta (DI).Patients would not present with DI if the glycine substitutions happened before the 79th amino acid in triple helix of α1 chains .Conclusions:This presented distinctive COL1A1 mutation spectrum in a large cohort of Chinese patients with OI.This new quantitative analysis of

关键词： Osteogenesis imperfecta COL1A1 Clinical scoring system Genotype Phenotype

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Using humeral nail for surgical reconstruction of femur in adolescents with osteogenesis imperfecta

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World Journal of Orthopedics 2017年第9期8卷 735-740页

作者： Paphon Sa-ngasoongsong Tanyawat Saisongcroh Chanika Angsanuntsukh Patarawan Woratanarat Pornchai Mulpruek Department of Orthopedics Faculty of Medicine Ramathibodi Hospital Mahidol University

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. We are reporting the surgical modification by using a humeral nail for femoral fixation in three adolescent OI patients with favorable outcomes.

关键词： Osteogenesis imperfecta Adolescent Humeral nail Femoral fracture Femoral bowing deformity

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Radiographic Features of Osteogenesis imperfecta about a Female Sibship

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Open Journal of Medical Imaging 2020年第1期10卷 52-61页

作者： B. M. A. Tiemtore-Kambou A. M. Napon N.-A. Ndé-Ouédraogo A. Koutou I. F. N. Sieba I. Ouédraogo O. Diallo R. Cissé Joseph Ki Zerbo University Ouagadougou Burkina Faso Bogodogo Teaching Hospital Ouagadougou Burkina Faso Charles de Gaulle Pediatric Teaching Hospital Ouagadougou Burkina Faso Yalgado Ouedraogo Teaching Hospital Ouagadougou Burkina Faso

Osteogenesis imperfecta (OI) belongs to a group of congenital osteoporosis which hallmark feature is “affecting skeleton, increasing bone fragility that fracture easily and decreasing bone density due to quantitative and/or qualita-tive abnormalities”. We report a female sibling’s involvement in 3 cases with probable recessive inheritance pattern. Only female aged between 5 and 13 years were affected with skeletal lesions in the lower limbs. The boy of this family had no skeletal or extra-skeletal lesions. Their parents had no affection and no bond of consanguinity. The observed malformations can be classified as type V or VI according to Sillence’s clinical classification. Lack of genetic test in our context has limited accuracy of the diagnosis as new data evoke a genetic classification into 12 types that leading an effective therapeutic management.

关键词： Osteogenesis imperfecta Familial Involvement Female Radiological Features Recessive Mode

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Carotid Artery Prolapse and Myringocarotidopexy in Osteogenesis imperfecta

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International Journal of Otolaryngology and Head & Neck Surgery 2015年第4期4卷 286-289页

作者： Hassanin Abdulkarim Hassan Haidar Ahmad Abualsoud Ahmed Elsotouhy A. Salam Alqahtani Department of Otorhinolaryngology Head & Neck Surgery Hamad Medical Corporation Doha Qatar Department of Radiology Hamad Medical Corporation Doha Qatar

Osteogenesis imperfecta is a rare genetic disorder of connective tissue that is caused by an error in collagen formation. The disease is characterized by abnormal bone fragility, osteopenia, blue discoloration of the sclerae and hearing loss. Chronic non-suppurative otitis media is frequent in Osteogenesis imperfecta patients and usually attributed to Eustachian tube dysfunction due to cranial molding and deformities. In some cases of severe Osteogenesis imperfecta, the fragile bone of the petrous carotid canal can be broken down by the pulsations of the carotid artery, this may result in prolapse of the carotid artery into the protympanum with resultant Eustachian tube obstruction and tympanic membrane retraction with adhesion to prolapsed carotid artery, a condition called myringocarotidopexy.

关键词： Eustachian Tube Carotid Artery Osteogenesis imperfecta Chronic Otitis Media Myringocarotidopexy Hearing Loss

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The Use of Near-Infrared Spectroscopy As a Substitute for Blood Pressure Monitoring in a Patient with Severe Osteogenesis imperfecta

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Open Journal of Anesthesiology 2012年第4期2卷 195-197页

作者： Joshua D. Dilley Edwin J. Abraham Taranjit S. Sangari Department of Anesthesiology University of Arkansas for Medical Sciences Little Rock Arkansas Department of Pediatric Anesthesiology Arkansas Children’s Hospital Little Rock Arkansas

The use of near-infrared spectroscopy (NIRS) as a means of assessing regional oxygen supply is a method that has gained recent support and interest. Given the potential of NIRS, this technology was utilized in an infant patient with a case of severe osteogenesis imperfecta that precluded conventional blood pressure monitoring. Using NIRS as a monitor and titrating the anesthetic accordingly produced a good outcome, with no post-operative evidence of detrimental intra-operative hypotension or ischemia.

关键词： Near Infrared Spectroscopy Osteogenesis imperfecta Monitoring

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