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Bilateral papilledema in a child with osteogenesis imperfecta

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Eye and Vision 2016年第1期3卷 197-201页

作者： Selam Yekta Sendul Cemile Ucgul Atilgan Semra Tiryaki Dilek Guven Department of Ophthalmology Sisli Hamidiye Etfal Training and Research HospitalEtfal Street34280 IstanbulSisliTurkey Department of Ophthalmology Ulucanlar Eye Training and Research HospitalUlucanlar street06030 AnkaraAltindagTurkey

Background:To present a female child patient with osteogenesis imperfecta who had bilateral *** presentation:A twelve-year-old girl with osteogenesis imperfecta was referred to our *** best corrected visual acuity of the patient was 5/10(corrected with+3.50 for right eye,+5.00 for left eye)with a standard Snellen scale at a distance of a 6 *** chamber,iris and lens examination of both of her eyes were *** her fundus examination,bilateral stage 2 papilledema and the wrinkles in papillomacular area were *** coherence tomography images revealed the macular pucker and thickening in the retinal nerve fibre layers of both *** tomography images revealed that there were ossifications in the optic chiasma and occlusion in all periorbital sinus ***:osteogenesis imperfecta is a rare,autosomal dominant connective tissue disorder characterised by bone fractures,deafness and blue *** would like to draw attention to the clinical course of our patient with computed tomography,optical coherence tomography and visual field findings.

关键词： Optical coherence tomography osteogenesis imperfecta Papilledema Visual field defect

osteogenesis imperfecta: One Disease, Two or More Faces: A Case Report

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Case Reports in Clinical Medicine 2023年第2期12卷 52-60页

作者： Anjali-Larisha Chhiba Firdose Lambey Nakwa Kebashni Thandrayen Department of Paediatrics Chris Hani Baragwanath Academic Hospital Johannesburg South Africa School of Clinical Medicine Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa

Being such a rare condition in paediatrics, osteogenesis imperfecta (OI) is not a diagnosis which is made often. It is however, a diagnosis necessitating early diagnosis and timeous and effective management to improve morbidity and increase the quality of life for our patients. We report two cases of osteogenesis imperfecta in this case report to highlight the different phenotypic presentations. Both of these patients are unique in their presentations and each case highlights the importance of a high clinical index of suspicion by the practitioner in making the diagnosis of osteogenesis imperfecta. The first case is a patient who was diagnosed with osteogenesis imperfecta on day one of life. She had disproportionate short stature, blue sclera, a small chest and bowing of her lower limbs with swellings and tenderness over both of her femurs. A babygram radiograph revealed multiple fractures, with the presence of callus formation at some fracture sites suggesting intrauterine fractures. The second case is a patient who had normal anthropometry and was well at birth. She was subsequently diagnosed at two weeks of age when she presented to the Chris Hani Baragwanath Academic Hospital with an E. coli meningitis and she was suspected to have a right clavicular fracture and possibly rib fractures as she had pain on palpation over these areas. She was noted to have no blue sclera. Subsequent X-rays confirmed a right clavicular fracture as well as left and right rib fractures at different stages of healing. A lateral skull radiograph revealed Wormian bones. With no available genetic testing in South Africa, both diagnoses were made clinically. Both of our patients were started on zoledronic acid at three months of age and were followed up by the Metabolic Unit at the Chis Hani Baragwanath Academic Hospital. This case report of two patients highlights the characteristics important in diagnosing and treating this uncommon condition with varying phenotypical presentations, thus

关键词： Paediatrics osteogenesis imperfecta Case Report Fractures South Africa

Classification of osteogenesis imperfecta:Importance for prophylaxis and genetic counseling

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World Journal of Clinical Cases 2023年第12期11卷 2604-2620页

作者： Monica-Cristina Panzaru Andreea Florea Lavinia Caba Eusebiu Vlad Gorduza Department of Medical Genetics Faculty of Medicine“Grigore T.Popa”University of Medicine and PharmacyIasi 700115Romania Department of Medical Genetics-Medical Genetics resident “Grigore T.Popa”University of Medicine and PharmacyIasi 700115Romania

osteogenesis imperfecta(OI)is a genetically heterogeneous monogenic disease characterized by decreased bone mass,bone fragility,and recurrent *** phenotypic spectrum varies considerably ranging from prenatal fractures with lethal outcomes to mild forms with few fractures and normal *** basic mechanism is a collagen-related defect,not only in synthesis but also in folding,processing,bone mineralization,or osteoblast *** recent years,great progress has been made in identifying new genes and molecular mechanisms underlying *** this context,the classification of OI has been revised several times and different types are *** Sillence classification,based on clinical and radiological characteristics,is currently used as a grading of clinical *** on the metabolic pathway,the functional classification allows identifying regulatory elements and targeting specific therapeutic *** classification has the advantage of identifying the inheritance pattern,an essential element for genetic counseling and *** genotype-phenotype correlations may sometimes be challenging,genetic diagnosis allows a personalized management strategy,accurate family planning,and pregnancy management decisions including options for mode of delivery,or early antenatal OI *** research on molecular pathways and pathogenic variants involved could lead to the development of genotype-based therapeutic *** narrative review summarizes our current understanding of genes,molecular mechanisms involved in OI,classifications,and their utility in prophylaxis.

关键词： osteogenesis imperfecta Heterogeneity Classification Molecular mechanism Genetic counseling Prophylaxis

Mesenchymal stem cells in the treatment of osteogenesis imperfecta

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Cell Regeneration 2023年第1期12卷 386-406页

作者： Erica Lang Julie A.Semon Department of Biological Sciences Missouri University of Science and Technology400 W 11th St.RollaMOUSA

osteogenesis imperfecta(OI)is a disease caused by mutations in different genes resulting in mild,severe,or lethal *** no cure,researchers have investigated the use of cell therapy to correct the underlying molecular defects of *** stem cells(MSCs)are of particular interest because of their differentiation capacity,immunomodulatory effects,and their ability to migrate to sites of *** can be isolated from different sources,expanded in culture,and have been shown to be safe in numerous clinical *** review summarizes the preclinical and clinical studies of MSCs in the treatment of ***,the culmination of these studies show that MSCs from different sources:1)are safe to use in the clinic,2)migrate to fracture sites and growth sites in bone,3)engraft in low levels,4)improve clinical outcome but have a transient effect,5)have a therapeutic effect most likely due to paracrine mechanisms,and 6)have a reduced therapeutic potential when isolated from patients with OI.

关键词： osteogenesis imperfecta Mesenchymal stem cells Cell therapy Transplantation

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

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Journal of Genetics and Genomics 2011年第4期38卷 149-156页

作者： Zhenping Xu Yulei Li Xiangyang Zhang Fanming Zeng Mingxiong Yuan Mugen Liu Qing Kenneth Wang Jing Yu Liu Key Laboratory of Molecular Biophysics of the Ministry of Education Center for Human Genome ResearchCollege of Life Science and TechnologyHuazhong University of Science and TechnologyWuhan 430074China Key Open Laboratory for Tissue Regeneration of Henan Universities Department of Life Science and TechniqueXinxiang Medical UniversityXinxiang 453003China Department of Molecular Cardiology Cleveland ClinicClevelandOH 44195USA

osteogenesis imperfecta（OI,also known as brittle bone disease）is caused mostly by mutations in two type I collagen genes,COL1A1 and COLIA2 encoding the pro-α1（I）and pro-α2（I）chains of type I collagen,*** Chinese families with autosomal dominant OI were identified and *** analysis revealed linkage of both families to COL1A2 on chromosome *** analysis was carried out using direct DNA sequence *** novel missense mutations,c.3350AG and c.3305GC,were identified in exon 49 of COL1A2 in the two families,*** c.3305GC mutation resulted in substitution of a glycine residue（G）by an alanine residue（A）at codon 1102（p.G1102A）,which was found to be mutated into serine（S）,argine（R）,aspartic acid（D）,or valine（V）in other *** c.3350AG variant may be a de novo mutation resulting in *** mutations co-segregated with OI in respective families,and were not found in 100 normal *** G1102 and Y1117 residues were evolutionarily highly conserved from zebrafish to *** analysis did not identify any mutation in the COX-2 gene（a modifier gene of OI）.This study identifies two novel mutations p.G1102A and p.Y1117C that cause OI,significantly expands the spectrum of COL1A2 mutations causing OI,and has a significant implication in prenatal diagnosis of OI.

关键词： osteogenesis imperfecta Mutation COL1A2 COX-2

Benefit of infusions with ibandronate treatment in children with osteogenesis imperfecta

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Chinese Medical Journal 2011年第19期000卷 3049-3053页

作者： LI Mei XIA Wei-bo XING Xiao-ping YU Wei HU Ying-ying JIANG Yan WANG Ou LIU Hai-juan HAN Lan-wen MENG Xun-wu XU Ling Department of Endocrinology Endocrine Key Laboratory of the Ministryof Health of China Peking Union Medical College Hospital Peking Union Medical CollegeChinese Academy of Medical Sciences Beijing 100730 China Department of Radiology Paeking Union Miedical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences Beijing100730 China Department of Gynaecology and Obstetrics Peking Union Medical College Hospital Peking UnionMedical College Chinese Academy of Medical Sciences Beijing100730 China

Background osteogenesis imperfecta （OI） is a rare bone disease and its effective treatment is relatively deficient. We tried to assess the effects of new bisphosphonate, ibandronate on children with *** In this open-label, prospective, controlled study, 30 children with OI were enrolled. They received either infusions of ibandronate （2 mg） in every three months or oral calcitriol 0.25 μg daily for 24 months. All patients took 500 mg calcium plus 200 U vitamin D daily together. The endpoints were the change of annual new fracture rate （observed by case history and X ray films of spine）, bone mineral density （BMD, measured by dual energy X-ray absortiometry）, serum concentration of carboxy-telopeptide cross-links of type Ⅰ collagen （CTX, bone resorption marker） and alkaline phosphatase （ALP, bone formation marker） during the *** After the cyclic infusions of ibandronate, the annual new fracture rate was significantly decreased from 1.9 to 0.13 time, obviously lower than that of calcitriol group, which decreased from 1.8 to 1.0 time after the treatment （P 〈0.001）.The significant increase of BMD at the lumbar spine, femoral neck, trochanter, total hip was found in the group of ibandronate by 59.0%, 42.0%, 47.5% and 36.6% in time dependent manner （compared with the baseline, P 〈0.001）. The increase of BMD in ibandronate group was greater than that of calcitriol group （P 〈0.001）. The concentrations of ALP and CTX were obviously decreased in ibandronate group, and the reduction of CTX was more significant than that of ALP （P 〈0.001）. The tolerance of the children to ibandronate was quite well. Mild fever and muscle pain were found in 9 cases within 1-3 days after the first infusion of ibandronate, which could relieve after 1-2 days without special *** The benefits of cyclic infusions of ibandronate to children with OI are significant because ibandronate could significantly reduce annual bone fracture rate, increase lumbar and hip BMD

关键词： osteogenesis imperfecta ibandronate annual new fracture rate bone mineral density

Case Report and Clinical Management of a Case of osteogenesis imperfecta Detected in the Prenatal Period

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Open Journal of Obstetrics and Gynecology 2024年第7期14卷 996-1002页

作者： Amina Chaieb Oumayma Ben Rejeb Samar Knaz Yasmine Ben Ali Syrine Chelly Safia Ernez Mouna Derouiche Department of Gynecology and Obstetrics Farhat Hached University Hospital Sousse Tunisia Faculty of Medicine Ibn Al Jazzar University of Sousse Sousse Tunisia

osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed through genetic studies. We present a case of osteogenesis imperfecta suspected during obstetrical ultrasound at 19 weeks’ gestation, which was later confirmed radiographically through computed tomography. Due to the severity of the condition, therapeutic termination of pregnancy was indicated.

关键词： osteogenesis imperfecta Ultrasound Screening Antenatal Diagnosis

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Cell therapy of a patient with type Ⅲ osteogenesis imperfecta caused by mutation in COL1A2 gene and unstable collagen type I

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Open Journal of Genetics 2013年第1期3卷 49-60页

作者： Marcin Majka Magdalena Janeczko Jolanta Gozdzik Danuta Jarocha Aleksandra Augusciak-Duma Joanna Witecka Marta Lesiak Halina Koryciak-Komarska Aleksander L.Sieron Jacek Jozef Pietrzyk Department of Transplantation UJCMKrakowPoland Department of Pediatrics and Medical Genetics Chair of PediatricsUJCMKrakowPoland Department of Clinical Immunology UJCMKrakowPoland Department of General and Molecular Biology and Genetics Medical University of SilesiaKatowicePoland Network of CoE BioMedTech Poland

The allogenic bone marrow derived mesenchymal stem cells transplantation was given to the newborn girl diagnosed with osteogenesis imperfecta type III, with multiple bone fractures, extreme shortness and limbs deformities. The treatment was performed at the age of 4 and 6 weeks. The clinical diagnosis was supported by biochemical analysis of collagen type I recovered from culture medium of cultivated patient’s skin fibroblast, which revealed its triple helix instability at temperature about 2?C lower than normal. Sequencing of both genes encoding procollagen type I revealed heterozygous substitution G23569Ain COL1A2 gene causing change of glycine at position 517 to aspartate. The donor of mesenchymal stem cells was the girl’s father. She received two intravenous infusions of suspended cultured mesenchymal cells in 16 days apart without any side effects. An analysis of procollagen type I secreted to the culture medium by bone marrow-derived mesenchymal stem cells obtained from the patient, 3 months following transplantation revealed its normal triple helix stability. During the subsequent two years of follow up two new bone fractures were noted. Currently a two-year-old girl’s presents extreme growth and weight deficiency. The motoric development is also retarded, but the patient constantly improves and makes progresses.

关键词： Bone Mineralisation Cell Therapy Collagen Type I osteogenesis imperfecta Triple Helix Stability

Assessment of quality of life in children with osteogenesis imperfecta: a review

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Life Research 2020年第4期3卷 169-175页

作者： Yong-Jie Lai Hui-Jia Mao Yue-Yang Zhang Yi-Bo Wu Department of Clinical Pharmacy School of Pharmaceutical SciencesShandong UniversityJinan 250014China Pharmaceutical Engineering Major School of Pharmaceutical SciencesJiangxi University of Traditional Chinese MedicineNanchang 330004China School of Public Health Shandong UniversityJinan 250012China Peking University Health Science Center Beijing 100191China Health Culture Research Center of Shaanxi Xi’an 712046China

osteogenesis imperfecta is a rare hereditary bone disease which is commonly classified into types I-IV,each of varying *** clinical symptoms of the disease consist of increased bone brittleness and recurrent fractures coupled with a variety of *** disease damages children’s body functions and restricts their daily activities,thus affects their psychological experience of living conditions and reduces their quality of *** quality of life of children with osteogenesis imperfecta is primarily assessed through a universal scale and so far there is no osteogenesis imperfecta-specific quality of life scale,which is of great value to the assessment of quality of *** symptoms,related complications,and limitations on physical exercise have been shown to be related to the assessment of quality of life and negatively affect the physical and psychological aspects of quality of life in children with osteogenesis *** negative effect is found to be more serious in children diagnosed with severe types of osteogenesis *** research into bisphosphonate therapy as a treatment for osteogenesis imperfecta has shown promising results in providing a better quality of life,but this treatment needs to be further studied and guided by the assessing results of quality of *** the future,better methods of assessment and improvement of quality of life for children with osteogenesis imperfecta still rely on the efforts of all sectors of society.

关键词： Children osteogenesis imperfecta Quality of life Assessment