OSTEOPETROSIS

作品数：21被引量：26H指数：3
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相关领域：医药卫生更多>>
相关作者：崔建国更多>>
相关机构：华中科技大学昆明医学院第二附属医院四川大学更多>>
相关期刊：《World Journal of Clinical Cases》《Journal of Clinical and Translational Hepatology》《World Journal of Clinical Pediatrics》《Chinese Journal of Traumatology》更多>>
相关基金：国家自然科学基金国家重点基础研究发展计划北京市自然科学基金更多>>
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Renal tubular acidosis:Varied aetiologies and clinical presentations:Three case reports
《World Journal of Nephrology》2025年第2期168-177,共10页Akhila Bhandarkar Anwitha Varmudy Hiya Boro Sowrabha Bhat 
BACKGROUND Renal tubular acidosis(RTA)refers to a group of kidney disorders characterized by defective acid excretion or bicarbonate reabsorption,leading to metabolic acidosis.This case series presents three cases of ...
关键词：Renal tubular acidosis Guibaud-Vainsel syndrome Marble brain disease OSTEOPETROSIS Focal segmental glomerulosclerosis Graves’disease Case series Case report 
Osteopetrosis-like disorders induced by osteoblast-specific retinoic acid signaling inhibition in mice
《Bone Research》2024年第4期832-845,共14页Siyuan Sun Yuanqi Liu Jiping Sun Bingxin Zan Yiwen Cui Anting Jin Hongyuan Xu Xiangru Huang Yanfei Zhu Yiling Yang Xin Gao Tingwei Lu Xinyu Wang Jingyi Liu Li Mei Lei Shen Qinggang Dai Lingyong Jiang 
supported in part by grants from the Hainan Provincial Natural Science Foundation of China (824MS152);the National Natural Science Foundation of China (81870740,82071083,82271006,82101048);the National Science Foundation of Shanghai (21ZR1436900,22ZR1436700);the Program of Shanghai Academic/Technology Research Leader (20XD1422300);the Cross-Disciplinary Research Fund of Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine (JYJC202116,JYJC201902);the Project of Biobank of Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine (YBKB201909,YBKB202216);the Original Exploration Project of Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine (JYYC003);the Clinical Research Plan of SHDC (SHDC2020CR4084);the Biomaterials and Regenerative Medicine Institute Cooperative Research Project Shanghai Jiao Tong University School of Medicine (2022LHB02);Two-Hundred Talent Project of Shanghai Jiao Tong University School of Medicine (20221809);Shanghai Jiao Tong University’s“Jiaotong University Star”Program Medical and Industrial Cross Research Fund (YG2023ZD14);Shanghai Science and Technology Innovation Action Plan-International Science and Technology Cooperation Program (23410713600)。
Osteopetrosis is an inherited metabolic disease,characterized by increased bone density and narrow marrow cavity.Patients with severe osteopetrosis exhibit abnormal bone brittleness,anemia,and infection complications,...
关键词：IMPAIRED METABOLISM SPLEEN 
Case Report: Four Siblings with Osteopetrosis and Pyloric Stenosis and Three Cousins with Osteopetrosis
《Open Journal of Pediatrics》2023年第5期605-612,共8页Fahad Mishal Al Harbi Elsharif A. Bazie Marwah Ali Al Hausa Lamyaa Alomar Tasneem H. Aldraye 
Osteopetrosis incidence is less than 1:200,000 births in most populations. It’s more common in consanguineous people as it’s unusual for two members of the same family. The incidence of Hypertrophic pyloric stenosis...
关键词：OSTEOPETROSIS Pyloric Stenosis Siblings 
Portal Hypertension Refractory Ascites Caused by Secondary Hemochromatosis
《Journal of Clinical and Translational Hepatology》2023年第4期987-990,共4页Jun Tie Wen Yuan Jia Xiaoyuan Gou 
We report a patient with refractory ascites because of portal hypertension caused by hemochromatosis secondary to osteopetrosis.To our knowledge,this is the first well-documented case of this association.A 46-year-old...
关键词：Refractory ascites Secondary hemochromatosis OSTEOPETROSIS Transjugular intrahepatic portosystemic shunt Case report 
Clinical and genetic diagnosis of autosomal dominant osteopetrosis typeⅡin a Chinese family:A case report
《World Journal of Clinical Cases》2023年第3期700-708,共9页Hong-Ping Gong Yan Ren Pan-Pan Zha Wen-Yan Zhang Jin Zhang Zhi-Wen Zhang Chun Wang 
Supported by the Science and Technology Plan Program of Sichuan of China,No.2018JY0608。
BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts.Approximately,80%of autosomal dominant osteopetrosis type II(ADO-II)patients ...
关键词：OSTEOPETROSIS Autosomal dominant osteopetrosis typeⅡ DIAGNOSIS Genetic analysis Case report 
Autosomal dominant osteopetrosis typeⅡresulting from a de novo mutation in the CLCN7 gene:A case report
《World Journal of Clinical Cases》2022年第20期6936-6943,共8页Xiu-Li Song Li-Yuan Peng Dao-Wen Wang Hong Wang 
BACKGROUND Osteopetrosis is a family of extremely rare diseases caused by failure of osteoclasts and impaired bone resorption. Among them, autosomal dominant osteopetrosis type Ⅱ(ADO Ⅱ), related to the chloride chan...
关键词：OSTEOPETROSIS Chloride channel 7 gene Autosomal dominant osteopetrosis typeⅡ Whole exome sequencing Case report 
Treatment for subtrochanteric fracture and subsequent nonunion in an adult patient with osteopetrosis:A case report and review of the literature被引量：1
《World Journal of Clinical Cases》2021年第35期11007-11015,共9页Hao Yang Guo-Xi Shao Zhen-Wu Du Zheng-Wei Li 
BACKGROUND As a congenital metabolic bone disease caused by defective osteoclastic resorption of immature bone,osteopetrosis is characterized by diffused sclerosis of bones,brittle bones,easy fracturing,narrow medulla...
关键词：OSTEOPETROSIS Subtrochanteric fracture NONUNION Platelet-rich plasma Radial extracorporeal shock wave therapy Case report 
The synergistic role of Pu.1 and Fms in zebrafish osteoclast-reducing osteopetrosis and possible therapeutic strategies被引量：1
《Journal of Genetics and Genomics》2020年第9期535-546,共12页Wei Liu Qianqian Di Kailun Li Jing Li Ning Ma Zhibin Huang Jiahao Chen Sheng Zhang Wenqing Zhang Yiyue Zhang 
supported by the National Natural Science Foundation of China(31671525,81770167,31922023);the National key R&D program of China(2018YFA0800200,2018YFA0801000);the Fundamental Research Funds for the Central Universities(2019ZD54);GDUPS(2019)。
Osteoclasts are bone resorption cells of myeloid origin. Osteoclast defects can lead to osteopetrosis, a genetic disorder characterized by bone sclerosis for which there is no effective drug treatment. It is known tha...
关键词：ZEBRAFISH Bone development OSTEOCLASTS OSTEOPETROSIS THERAPEUTICS 
Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications被引量：3
《Bone Research》2019年第2期195-209,共15页Antonio Maurizi Mattia Capulli Annabel Curle Rajvi Patel Argia Ucci Juliana Alves Cotes Harriet Oxford Shireen R. Lamandé John F. Bateman Nadia Rucci Anna Teti 
supported by the Fondazione Telethon Grants GGP09018 and GGP14014;the European Union funded project SYBIL—FP7-HEALTH-2013-INNOVATION—602300;the Progetti di Rilevante Interesse Nazionale(PRIN)grant 2015F3JHMB to A.T.A.M.;A.U.were recipients of Marie Curie fellowships from the European Union funded project RUBICON—H2020-MSCA-RISE-2015_690850 to A.T.
Autosomal dominant osteopetrosis type 2 (ADO2) is a high-density brittle bone disease characterized by bone pain,multiple fractures and skeletal-related events,including nerve compression syndrome and hematological fa...
关键词：Extra-skeletal MANIFESTATIONS dominant OSTEOPETROSIS IMPLICATIONS 
Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant被引量：2
《Chinese Medical Journal》2018年第3期354-356,共3页Wen-Hong Cao Wen-Bin Wei Gang Yu Li Li Qian Wu 
This study was supported by the grants from the National Natural Science Foundation of China （No. 81570891）; the National Natural Science Foundation of China （No. 81272981 ）; the Beijing Municipal Administration of Hospitals＇ Ascent Plan （No. DFL20150201 ）; the Science and Technology Project of Beijing Municipal Science and Technology Commission （No. ZI51100001615052）; the Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support （No. ZYLX201307）; the Beijing Natural Science Foundation （No. 7151003）; and the Advanced Health Care Professionals Development Project of Beijing Municipal Health Bureau （No. 2014-2-003）.
Infantile malignant osteopetrosis （IMO） is a rare congenital disease that is characterized by an impaired function or differentiation of osteoclasts.IMO is the most severe type of osteopetrosis.Patients usually pres...
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