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Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

Bone Research 2017年第3期5卷 242-249页

作者： Bo Wu Ou Wang Yan Jiang Mei Li xiaoping xing Weibo Xia Department of Endocrinology Key Laboratory of Endocrinology Ministry of Health Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences

Familial hypocalciuric hypercalcemia （FHH） is caused by inactivating mutations in the calcium-sensing receptor （CaSR） gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographicaUy. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone （PTH）, 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient＇s CaSR gene revealed a new missense mutation （c.2279T 〉 A） in exon 7, leading to the damaging amino change （p.I760N） in the mature CaSR protein, confirming the diagnosis of ~H. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated ~H levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that CaSR mutations may have a partial role in the pathogenesis of skeletal deformities.

关键词： Ca Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient PTH BMD

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Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

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Bone Research 2016年第1期4卷 48-54页

作者： Qianqian Pang Xuan Qi Yan Jiang Ou Wang Mei Li xiaoping xing Jin Dong Weibo Xia Department of Endocrinology Key Laboratory of EndocrinologyThe Ministry of HealthPeking Union Medical College HospitalChinese Academy of Medical Sciences Department of Endocrinology The First Affiliated Hospital of Shanxi Medical University

Hereditary vitamin D-resistant rickets （HVDRR） is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor （VDR）, which lead to complete or partial target organ resistance to the action of 1,25- dihydroxy vitamin D~ A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene was found to be responsible for the patient＇s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

关键词： VDR Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

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青年女性,乏力,低血钾,高血糖

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协和医学杂志 2024年第2期15卷 456-461页

作者：陈蓉王曦宋桉王佳佳李伟陈适邢小平中国医学科学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室北京100730

本文报道1例合并乏力、低血钾、高血糖的青年女性患者。其既往合并糖尿病,因乏力、发现血钾低5年而就诊,辅助检查示低血钾、低血镁、代谢性碱中毒、低尿钙,SLC12A3致病性突变,确诊为Gitelman综合征。予以氯化钾、镁剂治疗后,患者乏力得... 详细信息

本文报道1例合并乏力、低血钾、高血糖的青年女性患者。其既往合并糖尿病,因乏力、发现血钾低5年而就诊,辅助检查示低血钾、低血镁、代谢性碱中毒、低尿钙,SLC12A3致病性突变,确诊为Gitelman综合征。予以氯化钾、镁剂治疗后,患者乏力得到改善,血钾、血镁基本正常,口服降糖药物后血糖控制达标。本文梳理该患者的诊疗历程,并结合文献复习,以期为临床诊疗提供参考。

关键词：低钾血症低镁血症 Gitelman综合征糖尿病

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自噬相关基因FpAtg3参与假禾谷镰孢的生长和致病

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中国农业科学 2024年第6期57卷 1080-1090页

作者：董在芳丁腾腾单艺轩李洪连陈琳琳邢小萍河南农业大学植物保护学院/小麦玉米作物学国家重点实验室

【背景】假禾谷镰孢（Fusarium pseudograminearum）引起的小麦茎基腐病是我国小麦生产上的新病害。自噬是真核生物中普遍发生的细胞过程，调控多种植物病原真菌的生长发育和侵染，但其在假禾谷镰孢中的作用还不明确。【目的】明确假禾... 详细信息

【背景】假禾谷镰孢（Fusarium pseudograminearum）引起的小麦茎基腐病是我国小麦生产上的新病害。自噬是真核生物中普遍发生的细胞过程，调控多种植物病原真菌的生长发育和侵染，但其在假禾谷镰孢中的作用还不明确。【目的】明确假禾谷镰孢自噬相关基因FpAtg3在该病菌生长和致病中的作用，解析假禾谷镰孢致病机理，为小麦茎基腐病科学防控提供理论依据。【方法】从NCBI数据库中下载主要真菌的Atg3氨基酸序列，利用MEGA5.05构建系统进化树。利用Split-PCR策略构建FpAtg3基因敲除盒，经PEG介导的原生质体转化导入假禾谷镰孢野生型菌株中。利用潮霉素抗性筛选阳性转化子，并经PCR检测获得FpAtg3基因缺失突变体（ΔFpAtg3）。构建pKNTG-FpAtg3重组载体，导入ΔFpAtg3菌株，利用FpAtg3自身启动子启动FpAtg3的转录，以获得FpAtg3缺失突变体的回补菌株。利用假禾谷镰孢营养生长的培养基PDA、CM和MM测定菌丝生长速率和菌落形态；PDA培养基上测定菌丝形态和菌丝融合率；CMC培养液中测定分生孢子的产量及形态；皮氏培养基上测定孢子融合芽管调控的融合率。将假禾谷镰孢的菌丝块接种小麦胚芽鞘和大麦叶片测定病原菌的致病力，采用盆栽试验测定假禾谷镰孢引起的小麦茎基腐病。在PDA培养基中分别加入刚果红、SDS和过氧化氢测定假禾谷镰孢对细胞壁、细胞膜和氧化胁迫的耐受性。【结果】细胞自噬相关蛋白Atg3在真菌中非常保守，且与生物进化的方向一致，假禾谷镰孢FpAtg3与禾谷镰孢和尖镰孢的Atg3同源性最高。获得了FpAtg3基因缺失突变体和回补菌株，表型测定结果显示，与假禾谷镰孢野生型和回补菌株相比，ΔFpAtg3在营养培养基上的菌丝生长明显减慢，气生菌丝减少，菌丝呈波纹状卷曲，分生孢子产量减少，孢子变短，分生孢子分隔减少；野生型和回补菌株菌丝融合发生非常普遍，在相同条件下ΔFpAtg3的菌丝融合率和孢子融合芽管调控的融合率均明显降低；ΔFpAtg3侵染大麦叶片和小麦胚芽鞘造成的病斑较野生型和回补菌株侵染的病斑明显减小，盆栽试验进一步验证ΔFpAtg3的致病力降低；与野生型和回补菌株相比，ΔFpAtg3在刚果红、SDS和过氧化氢胁迫中的耐受性降低。【结论】自噬相关基因FpAtg3参与假禾谷镰孢的菌丝生长、分生孢子产生、菌丝融合、致病力以及对非生物胁迫的耐受性。

关键词：小麦茎基腐病假禾谷镰孢 Atg3 菌丝融合致病力

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山东省威海市刘公岛周边海域海底沉积物粒度特征及沉积动力环境研究

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山东国土资源 2024年第5期40卷 24-30页

作者：袁星芳徐昌李方舟邢晓平战蓉蓉孙萌鑫山东省第六地质矿产勘查院山东威海264209

为系统分析刘公岛周边海域沉积物粒度特征及沉积动力环境,本次研究在充分收集以往资料的基础上,结合本次测试结果,对沉积物类型及粒度特征进行了总结。研究结果表明:区内沉积物类型主要有4种,分别为含砾泥((g)M)、砾质泥(gM)、砂质粉砂(... 详细信息

为系统分析刘公岛周边海域沉积物粒度特征及沉积动力环境,本次研究在充分收集以往资料的基础上,结合本次测试结果,对沉积物类型及粒度特征进行了总结。研究结果表明:区内沉积物类型主要有4种,分别为含砾泥((g)M)、砾质泥(gM)、砂质粉砂(sZ)、粉砂(Z),其中砂质粉砂与粉砂分布最广;区内平均粒径整体呈东南向西北递增的趋势,分选性整体为差,偏态属于正偏范畴,峰态以中等型为主;区内沉积物整体位于三角图的左上部位,黏土和粉砂两端沉积物很少,表明区内水动力条件整体较弱。

关键词：海底沉积物粒度特征沉积动力环境刘公岛山东威海

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Efficacy and safety of extracorporeal shock wave therapy combined with sodium hyaluronate in treatment of knee osteoarthritis:a systematic review and Meta-analysis

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Journal of Traditional Chinese Medicine 2024年第2期44卷 243-250页

作者： ZHOU Mingwang DONG Zhuanli WEI Changhao FENG Lufang WANG xiaoping LIU Haiping JI xing YANG Kehu LI Shenghua Department of Orthopaedics Gansu Provincial Hospital of Traditional Chinese MedicineLanzhou 730050China Department of Quality Management Lanzhou Petrochemical General HospitalLanzhou 730050China Department of Orthopaedics Lanzhou Petrochemical General HospitalLanzhou 730050China Evidence-Based Social Science Research Center School of Public HealthLanzhou UniversityLanzhou730000China Evidence-Based Medicine Center School of Basic Medical SciencesLanzhou UniversityLanzhou 730000China Key Laboratory of Evidence Based Medicine and Knowledge Translation of Gansu Province Lanzhou 730000China Center for Translational Medicine Gansu Provincial Hospital of Traditional Chinese MedicineLanzhou 730050China Department of Orthopaedics Gansu Provincial Hospital of Traditional Chinese MedicineLanzhou 730000China

OBJECTIVE:To assess the efficacy and safety of extracorporeal shockwave therapy(ESWT)combined with sodium hyaluronate(HA)for the treatment of knee osteoarthritis(KOA).METHODS:PubM ed,Embase,the Cochrane Library,Web of Science,China National Knowledge Infrastructure,Wanfang database,China Science and Technology Journal Database,and SinoMed were searched from inception to July 2020.The quality of the randomized controlled trials was evaluated independently by two reviewers according to the criteria in the Cochrane Collaboration for Systematic Reviews.The identified articles were then screened individually using EndnoteX9 for eligibility in this Meta-analysis.The heterogeneity among the articles was evaluated using I2.RESULTS:A total of 17 studies,comprising 2000 individuals,were included in this Meta-analysis.The results showed that a significant improvement was observed in knee pain and function based on the clinical efficacy of ESWT combined with HA.Statistical analysis of clinical efficacy showed that[relative risk(RR)=1.21,95%confidence interval(CI)(1.12,1.30),P<0.01].Statistical analysis of visual analog scale showed that[standardized mean difference(SMD)=-2.84,95%CI(-4.01,-1.66),P<0.01].Western Ontario and McMaster University osteoarthritis index statistical analysis showed that[SMD=-1.57,95%CI(-2.52,-0.61),P<0.01].Lysholm score statistical analysis showed that[SMD=1.71,95%CI(0.98,2.44),P<0.01].In addition,only minor side effects,such as redness and swelling of the skin,were observed.CONCLUSIONS:Medium to low quality evidence showed that ESWT combined with HA offers an inexpensive,welltolerated,safe,and effective method to improve pain and functionality in patients with KOA.However,tightly controlled,randomized,large multicenter trials are warranted to validate the current findings.

关键词： osteoarthritis knee randomized controlled trial extracorporeal shockwave therapy hyaluronic acid Meta-analysis

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The Chinese guidelines for the diagnosis and treatment of pancreatic neuroendocrine neoplasms(2020)

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Journal of Pancreatology 2021年第1期4卷 1-17页

作者： Wenming Wu Jie Chen Chunmei Bai Yihebali Chi Yiqi Du Shiting Feng Li Huo Yuxin Jiang Jingnan Li Wenhui Lou Jie Luo Chenghao Shao Lin Shen Feng Wang Liwei Wang Ou Wang Yu Wang Huanwen Wu xiaoping xing Jianming Xu Huadan Xue Ling Xue Yang Yang Xianjun Yu Chunhui Yuan Hong Zhao Xiongzeng Zhu Yupei Zhao on behalf of the Chinese Pancreatic Surgery Association Department of General Surgery State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing Department of Gastroenterology The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhouGuangdong Province Department of Medical Oncology Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing Department of Medical Oncology National Cancer CenterNational Clinical Research Center for CancerCancer HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing Department of Gastroenterology Changhai Hospital Affiliated to Navy Medical UniversityShanghai Department of Radiology The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhouGuangdong Province Department of Nuclear Medicine Beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear MedicinePeking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing Department of Ultrasound Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing Department of Gastroenterology Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing Department of General Surgery Zhongshan Hospital of Fudan University Department of Pathology China-Japan Friendship HospitalBeijing Department of Pancreatic-biliary Surgery Changzheng HospitalNavy Medical UniversityShanghai Department of Gastrointestinal Oncology Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education)Peking University Cancer Hospital&InstituteBeijing Department of Nuclear Medicine Nanjing First HospitalNanjing Medical UniversityNanjingJiangsu Province Department of Oncology Renji HospitalShanghai JiaoTong University School of MedicineShanghai Department of Endocrinology Peking Union Medical College HospitalChinese Academy of Medical Sc

Pancreatic neuroendocrine neoplasms(pNENs)are highly heterogeneous,and the management of pNENs patients can be intractable.To address this challenge,an expert committee was established on behalf of the Chinese Pancreatic Surgery Association,which consisted of surgical oncologists,gastroenterologists,medical oncologists,endocrinologists,radiologists,pathologists,and nuclear medicine specialists.By reviewing the important issues regarding the diagnosis and treatment of pNENs,the committee concluded evidence-based statements and recommendations in this article,in order to further improve the management of pNENs patients in China.

关键词： Diagnosis Guidelines Pancreatic Neuroendocrine Neoplasm Treatment

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GCM2突变相关原发性甲状旁腺功能亢进症的发病机制及临床特点

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中华内分泌代谢杂志 2022年第5期38卷 437-439页

作者：宋桉王鸥邢小平中国医学科学院北京协和医学院北京协和医院内分泌科卫生健康委员会内分泌重点实验室北京100730

原发性甲状旁腺功能亢进症(primary hyperparathyroidism,PHPT)大部分为散发性,少数(<10%)病例为家族性或综合征性。其中胶质细胞缺失基因2(glial cell missing 2,GCM2)在2016年被Guan B等证实为一种新的PHPT致病基因,目前共4个GCM2变... 详细信息

原发性甲状旁腺功能亢进症(primary hyperparathyroidism,PHPT)大部分为散发性,少数(<10%)病例为家族性或综合征性。其中胶质细胞缺失基因2(glial cell missing 2,GCM2)在2016年被Guan B等证实为一种新的PHPT致病基因,目前共4个GCM2变异被证实与家族性或散发性PHPT具有确定的相关性。本文就GCM2突变相关PHPT的发病机制及临床特点进行综述。

关键词：原发性甲状旁腺功能亢进症胶质细胞缺失基因2 发病机制临床特点

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The Clinical Phenotypes in Chinese Primary Hyperparathyroidism Patients was Associated with Calcium-sensing Receptor Gene R990G Polymorphisms

The Clinical Phenotypes in Chinese Primary Hyperparathyroidi...

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中华医学会第七次全国骨质疏松和骨矿盐疾病学术会议

作者： Guiyan Han Ou Wang Min Nie Yan Zhu Xunwu Meng Yingying Hu Huaicheng Liu xiaoping xing Key Laboratory of Endocrinology of Ministry of Health Department of Endocrinology Peking Union Medical CollegeChinese Academy of Medical Sciences Department of Endocrine Teaching Hospital of Capital Medical University of Beijing Electric Power Hospital

Objective To investigate the distribution of A986S and R990Gpolymorphisms of CASR gene in Chinese population,and their relationship with the risk and clinical phenotypes of primary hyperparathyroidism(PHPT) in Chinese population. Patients and methods 164 consecutive Chinese Han PHPT patients(M/F:51/113) and 230 healthy controls(M/F:50/180) were enrolled.The clinical parameters in PHPT patients including biochemical

关键词： primary hyperparathyroidism calcium-sensing receptor polymorphism nephrolithiasis

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The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKARIA Causes Acrodysostosis

The First Mutation Identified in a Chinese Acrodysostosis Pa...

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中华医学会第七次全国骨质疏松和骨矿盐疾病学术会议

作者： Nan Li Min Nie Mei Li Yan Jiang xiaoping xing Ou Wang Chunlin Li Weibo Xia Department of Geriatric Endocrinology Chinese PLA General Hospital Department of Endocrinology Key Laboratory of EndocrinologyMinistry of HealthPeking Union Medical College HospitalChinese Academy of Medical Science

Objective Acrodysostosis(ACRDYS) is a rare skeletal dysplasia,some of which have multiple hormone resistance.PRKAR1A gene,which encodes the typeⅠ-alpha regulatory subunits of cAMP-dependent protein kinase,has been found to be associated with ACRDYS.Our objective was to investigate the clinical manifestation and genetic background of a Chinese girl of ACRDYS with multiple hormone resistance.

关键词： rare skeletal dysplasia Chinese cAMP signaling hormone resistance PRKAR1A

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