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Parental Knowledge of Pre-Hospital Management of Avulsed Permanent Tooth in Children at Kath
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作者 Ama Agyeibea Amuasi Samuel K. Addo Solomon Obiri-Yeboah 《Open Journal of Stomatology》 2024年第2期87-102,共16页
BACKGROUND: Permanent tooth avulsion is one of the severe forms of dental traumatic injuries. The immediate action taken at the site of the accident is crucial to the prognosis of the tooth. Replantation is considered... BACKGROUND: Permanent tooth avulsion is one of the severe forms of dental traumatic injuries. The immediate action taken at the site of the accident is crucial to the prognosis of the tooth. Replantation is considered as the treatment of choice. OBJECTIVE: The study was undertaken to assess the knowledge of parents who accompany their children to the pediatric dental clinic, KATH on the pre-hospital management of avulsed permanent tooth in children. METHODS: A researcher administered structured questionnaire was used to collect data on the knowledge of pre-hospital management of avulsed permanent tooth from 83 parents who accompanied their wards to the pediatric dental clinic at KATH. RESULTS: A total of 83 parents were involved in the study. 30 (36%) were males while 53 (64%) were females. The majority of the parents (57%) were either university trained or had attended college of education. Only 32 parents (39%) were aware of the possibility of replantation. Majority of the parents chose non-physiologic media as the transport media of choice and only 10% would attempt self-replantation before seeking professional help. 76 parents (92%) had no previous education on pre-hospital management of avulsed tooth. CONCLUSION: The results obtained from this study indicate that parental knowledge on pre-hospital management of avulsed permanent tooth is low hence the need for massive public educational campaigns. 展开更多
关键词 Parental Knowledge tooth Avulsion Pre-Hospital Management Permanent tooth
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Effect of different interventions on orthodontic tooth movement acceleration:A network meta-analysis
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作者 CHEN Hui-ying ZHANG Li +2 位作者 ZHAN Le WAN Ni MO Li-wen 《Journal of Hainan Medical University》 CAS 2024年第2期41-50,共10页
Objective: To explore the effectiveness of various interventions in accelerating tooth movement, a systematic review and net-work meta analysis were used to draw a conclusion. Methods: MEDLINE, EMBASE, Willey Library,... Objective: To explore the effectiveness of various interventions in accelerating tooth movement, a systematic review and net-work meta analysis were used to draw a conclusion. Methods: MEDLINE, EMBASE, Willey Library, EBSCO, Web of Science Databases, and Cochrane Central Register of Controlled Trials databases to identify relevant studies. ADDIS 1.16.6 and Stata 16.0 software were used for NMA. Results: Five thousand five hundred and forty-two articles were searched out. After screening by two independent investigators, forty-seven randomized controlled trials, 1 390 participants, were included in this network meta-analysis. A total of 11 interventions involving Piezocision (Piezo), Photobiomodulation therapy (PBMT), Plate- let-rich plasma(PRP), Electromagnetic field(EF), Low intensity laser therapy(LLLT), Low intensity pulsed ultrasound(LI-PUS), Low-frequency vibrations(LFV), Distraction osteogenesis(DAD), Corticotomy(Corti), Microosteoperforations (MOPS), Traditional orthodontic(OT)were identified and classified into 3 classes including surgical treatment, non-surgical treatment and traditional orthodontic treatment. According to SUCRA probability ranking of the best intervention effect, when orthodontic treatment lasted for 1 month, PBMT (90.6%), Piezo(87.4%) and MOPs(73.6%)were the top three interventions to improve the efficiency of canine tooth movement. When orthodontic treatment lasted for 2 months, Corti (75.7%), Piezo (69.6%) and LFV(58.9%)were the top three interventions for improving the mobility efficiency of canine tooth movement. When orthodontic treatment lasted for 3 months, Cort (73.3%), LLLT(68.4%)and LFV(60.8%)were the top three interventions for improving the mobility efficiency of canine tooth movement. Conclusion: PBMT and Piezo can improve the efficiency of canine tooth movement significantly after 1 month, while Corti and LFV can improve the efficiency of canine tooth movement better after 2 and 3 months. 展开更多
关键词 Orthodontic tooth movement ACCELERATION Network Meta-analysis Randomized controlled trials
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Three-Dimensional Conjugate Tooth Surface Design and Contact Analysis of Harmonic Drive with Double-Circular-Arc Tooth Profle
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作者 Chaosheng Song Feihong Zhu +1 位作者 Xinzi Li Xuesong Du 《Chinese Journal of Mechanical Engineering》 SCIE EI CAS CSCD 2023年第5期248-265,共18页
A three-dimensional conjugate tooth surface design method for Harmonic Drive with a double-circular-arc tooth profle is proposed. The radial deformation function of the fexspline (FS), obtained through Finite Element ... A three-dimensional conjugate tooth surface design method for Harmonic Drive with a double-circular-arc tooth profle is proposed. The radial deformation function of the fexspline (FS), obtained through Finite Element (FE) analysis, is incorporated into the kinematics model. By analyzing the FS tooth enveloping process, the optimization of the overlapping conjugate tooth profle is achieved. By utilizing the hobbing process, the three-dimensional machinable tooth surface of FS can be acquired. Utilizing the coning deformation of the FS, simulations are conducted to analyze the multi-section assembly and meshing motion of the machinable tooth surface. The FE method is utilized to analyze and compare the loaded contact characteristics. Results demonstrate that the proposed design method can achieve an internal gear pair consisting of a circular spline with a spur gear tooth surface and the FS with a machinable tooth surface. With the rated torque, approximately 24% of the FS teeth are engaged in meshing, and more than 4/5 of the tooth surface in the axial direction carries the load. The contact patterns, maximum contact pressure, and transmission error of the machinable tooth surface are 227.2%, 40.67%, and 71.24% of those on the spur gear tooth surface, respectively. It clearly demonstrates exceptional transmission performance. 展开更多
关键词 Three-dimensional conjugate tooth surface Coning deformation Double-circular-arc tooth profle Harmonic Drive Contact characteristics
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Comparative Study of the Rock-breaking Mechanism of a Disc Cutter and Wedge Tooth Cutter by Discrete Element Modelling
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作者 Hua Jiang Huiyan Zhao +2 位作者 Xiaoyan Zhang Yusheng Jiang Yaofu Zheng 《Chinese Journal of Mechanical Engineering》 SCIE EI CAS CSCD 2023年第3期269-285,共17页
The operation of a shield tunnel boring machine(TBM)in a high-strength hard rock stratum results in significant cutter damage,adversely affecting the thrust and torque of the cutter head.Therefore,it is very important... The operation of a shield tunnel boring machine(TBM)in a high-strength hard rock stratum results in significant cutter damage,adversely affecting the thrust and torque of the cutter head.Therefore,it is very important to carry out the research on the stress characteristics and optimize the cutter parameters of cutters break high-strength hard rock.In this paper,the rock-breaking performance of cutters in an andesite stratum in the tunnel of Qingdao Metro Line No.8 was investigated using the discrete element method and theoretical analysis.The rock-breaking processes of a disc cutter and wedge tooth cutter were simulated by software particle flow code PFC^(3D),and the rock-breaking degree,stress of the cutter,and rock-breaking specific energy were analyzed.The rock damage caused by the cutter in a specific section was divided into three stages:the advanced influence,crushing,and stabilizing stages.The rock-breaking degree and the tangential and normal forces of the wedge tooth cutter are larger than that of the disc cutter under the same conditions.The disc cutter(wedge tooth cutter)has the highest rock-breaking efficiency at a cutter spacing of 100 mm(110 mm)and a penetration depth of 8 mm(10 mm),and the rock-breaking specific energy is 11.48 MJ/m^(3)(12.05 MJ/m^(3)).Therefore,two types of cutters with different penetration depths or cutter spacing should be considered.The number of teeth of wedge tooth cutters can be increased in hard strata to improve the rock-breaking efficiency of the shield.The research results provide a reference for shield cutterhead selection and cutter layout in similar projects. 展开更多
关键词 Qingdao andesite Rock breaking with cutter Wedge tooth cutter Specific energy PFC^(3D)
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Single cell RNA sequencing reveals mesenchymal heterogeneity and critical functions of Cd271 in tooth development
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作者 Yan-Yan Zhang Feng Li +6 位作者 Xiao-Ke Zeng Yan-Hui Zou Bing-Bing Zhu Jia-Jia Ye Yun-Xiao Zhang Qiu Jin Xin Nie 《World Journal of Stem Cells》 SCIE 2023年第6期589-605,共17页
BACKGROUND Accumulating evidence suggests that the maxillary process,to which cranial crest cells migrate,is essential to tooth development.Emerging studies indicate that Cd271 plays an essential role in odontogenesis... BACKGROUND Accumulating evidence suggests that the maxillary process,to which cranial crest cells migrate,is essential to tooth development.Emerging studies indicate that Cd271 plays an essential role in odontogenesis.However,the underlying mechanisms have yet to be elucidated.AIM To establish the functionally heterogeneous population in the maxillary process,elucidate the effects of Cd271 deficiency on gene expression differences.METHODS p75NTR knockout(Cd271-/-)mice(from American Jackson laboratory)were used to collect the maxillofacial process tissue of p75NTR knockout mice,and the wildtype maxillofacial process of the same pregnant mouse wild was used as control.After single cell suspension,the cDNA was prepared by loading the single cell suspension into the 10x Genomics Chromium system to be sequenced by NovaSeq6000 sequencing system.Finally,the sequencing data in Fastq format were obtained.The FastQC software is used to evaluate the quality of data and CellRanger analyzed the data.The gene expression matrix is read by R software,and Seurat is used to control and standardize the data,reduce the dimension and cluster.We search for marker genes for subgroup annotation by consulting literature and database;explore the effect of p75NTR knockout on mesenchymal stem cells(MSCs)gene expression and cell proportion by cell subgrouping,differential gene analysis,enrichment analysis and protein-protein interaction network analysis;understand the interaction between MSCs cells and the differentiation trajectory and gene change characteristics of p75NTR knockout MSCs by cell communication analysis and pseudo-time analysis.Last we verified the findings single cell sequencing in vitro.RESULTS We identified 21 cell clusters,and we re-clustered these into three subclusters.Importantly,we revealed the cell–cell communication networks between clusters.We clarified that Cd271 was significantly associated with the regulation of mineralization.CONCLUSION This study provides comprehensive mechanistic insights into the maxillary-process-derived MSCs and demonstrates that Cd271 is significantly associated with the odontogenesis in mesenchymal populations. 展开更多
关键词 Cd271 Mesenchymal stem cells Single cell RNA sequencing OSTEOGENESIS MINERALIZATION tooth development
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Tooth arrangement design of retractable DTH hammer bit used for drilling while casing
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作者 ZHANG Boyao CHEN Baoyi +2 位作者 YANG Da BO Kun CAO Pinlu 《Global Geology》 2023年第1期40-46,共7页
Down-the-hole(DTH)hammer with casing while drilling(CWD)is a technology that has been proven to be able to alleviate many of the problems faced by complex formations.However,the drill bit is suffered from rapid wear,l... Down-the-hole(DTH)hammer with casing while drilling(CWD)is a technology that has been proven to be able to alleviate many of the problems faced by complex formations.However,the drill bit is suffered from rapid wear,low drilling efficiency,and high energy consumption due to the unreasonable tooth arrangement and impact energy selection in drilling process,which affect the application effect of this technology.ABAQUS software was used for numerical simulation of rock breaking behavior under impact load with the single,three,and five teeth arrangement drill bit respectively,to improve the application effect and solve the aforementioned technical problems.Based on the calculated parameters of tooth arrangement,we designed a novel drill bit for hard rocks and provided a theoretical basis for the tooth arrangement of largediameter drill bits. 展开更多
关键词 casing while drilling drill bit tooth arrangement rock breaking ABAQUS
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A Rare Case: Multiple Mandibular Arteriovenous Malformation with High Output: May a Tooth Extraction Alone Turn to a Catastrophic Condition?
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作者 Aziz Aysel Eda Aysan +2 位作者 Bilge Tuncer Mustafa Turan Ezgi Erkılıç 《Open Journal of Anesthesiology》 2023年第11期221-225,共5页
Background: Arteriovenous malformations (AVM) in mandible and neck are potentially life-threatening conditions because of possible massive hemorrhage. They are often first diagnosed by dentists as bleeding. In this ca... Background: Arteriovenous malformations (AVM) in mandible and neck are potentially life-threatening conditions because of possible massive hemorrhage. They are often first diagnosed by dentists as bleeding. In this case, we report how a tooth extraction turned to a catastrophic condition in a patient with multiple AVMs in the mandibular, submandibular and hyoid region. Case: A 19-year-old male patient diagnosed with AVMs in the mandibular and submandibular regions was admitted to our hospital with the complaint of leaky hemorrhage around the lower left 3rd molar tooth. Tooth extraction was planned after embolization procedure. The patient was intubated uneventfully using video laryngoscope. However, an acute bleeding of more than 1600 ml occurred in one minute just after the mouth opener was inserted. The patient was transferred to the Interventional Radiology and other branches of the high-flow AVM were embolized. The patient was taken back to the operating room and the tooth was extracted uneventfully. Conclusion: In AVM cases, trauma should be minimized during induction of general anesthesia and intubation should be performed gently with fiberoptic bronchoscopy or video laryngoscopy. We conclude that a multidisciplinary approach as applied to our patient would be valuable in such cases. 展开更多
关键词 Arteriovenous Malformations tooth Extraction Anesthetic Management
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Charcot-Marie-Tooth病的遗传、临床和电生理观察(附20例临床分析) 被引量:11
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作者 程源深 周宝礼 《临床神经病学杂志》 CAS 1995年第4期220-222,共3页
本文报道 20例 Charcot-Marie-Tooth病的遗传、临床和电生理资料。其中男 16例,女 4例,平均发病年龄为26.75岁。发现4例显性遗传,3例隐性遗传,10例散发,3例遗传情况不详。主要症状有高弓足、垂... 本文报道 20例 Charcot-Marie-Tooth病的遗传、临床和电生理资料。其中男 16例,女 4例,平均发病年龄为26.75岁。发现4例显性遗传,3例隐性遗传,10例散发,3例遗传情况不详。主要症状有高弓足、垂足、鹤腿和腱反射消失;上肢前臂有肌萎缩者占1/4。所有病人电生理检查均有失神经现象,特别是MCV有明显减慢。且发现MCV的减慢和临床严重程度无相关联系。 展开更多
关键词 Charcot-Marie tooth 遗传 腓骨肌萎缩
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人体词“牙/齿”和“tooth”语义转移的认知研究 被引量:7
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作者 赵学德 《西安外国语大学学报》 2011年第2期34-37,共4页
人体词"牙/齿",对应的英文词"tooth",基本义指称人体重要的部位之一。在漫长的语言演变过程中,主要借助隐喻和转喻的作用下,构成了一个连续统一的语义转移系统——基于突显和邻近原则的转喻所指:"年龄、口味... 人体词"牙/齿",对应的英文词"tooth",基本义指称人体重要的部位之一。在漫长的语言演变过程中,主要借助隐喻和转喻的作用下,构成了一个连续统一的语义转移系统——基于突显和邻近原则的转喻所指:"年龄、口味、言语、情感";基于形貌相似的隐喻所指:"齿状物";基于隐喻转喻互动的隐转喻所指:"战争"。这说明了英汉民族某些共同的身体体验决定了认知的相通性。同时,在英汉民族思维中牙齿的言语交际功能都占有很突显的地位,汉民族还注重牙齿的外貌特征。 展开更多
关键词 牙/齿 tooth 语义转移 隐喻 转喻
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剔除小鼠神经微管运动蛋白Kif1b基因导致类似Charcot-Marie-Tooth病动物模型 被引量:1
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作者 董铭 于澎 +1 位作者 饶明俐 田中庸介 《中风与神经疾病杂志》 CAS CSCD 北大核心 2007年第3期275-277,共3页
目的研究杂合子小鼠Kiflb基因剔除后导致的表现型,探讨其作为类似Charcot-Marie-Tooth (CMT)病动物模型的可行性。方法用Southern blotting和PCR检测同源重组和基因型,Western blotting测定杂合子KIF1B蛋白表达量,行为学实验观察其表现... 目的研究杂合子小鼠Kiflb基因剔除后导致的表现型,探讨其作为类似Charcot-Marie-Tooth (CMT)病动物模型的可行性。方法用Southern blotting和PCR检测同源重组和基因型,Western blotting测定杂合子KIF1B蛋白表达量,行为学实验观察其表现型。结果杂合子Kif1b基因剔除小鼠的KIF1B蛋白表达量减少了一半以上,行为学实验结果表明,杂合子基因剔除小鼠在运动和感觉方面均有异常。Rota-rod实验,Rod walking实验和Wire hanging实验中,野生型小鼠的停留时间均明显长于Kif1b基因剔除小鼠。同时,杂合子Kif1b基因剔除小鼠在热板实验和福尔马林实验中,表现出对温度觉和痛觉反应的迟钝,其反应时间与野生型小鼠相比明显延长,反应强度降低。结论杂合子Kif1b基因剔除小鼠的表现型与人类腓骨肌萎缩症相似,作为疾病模型具备可行性。 展开更多
关键词 微管运动蛋白 基因剔除 CHARCOT-MARIE-tooth 动物模型
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Charcot-Marie-Tooth病的诊治 被引量:2
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作者 洪道俊 张玉生 《暨南大学学报(自然科学与医学版)》 CAS CSCD 北大核心 2014年第5期432-438,共7页
Charcot-Marie-Tooth病(CMT)是最常见的一种遗传性周围神经病,是一组具有显著临床异质性和遗传异质性的疾病,主要表现为肢体远端肌肉进行性无力和萎缩,伴有轻到中度感觉减退,腱反射减弱和足部畸形等.近20年CMT致病基因的不断被克隆,其... Charcot-Marie-Tooth病(CMT)是最常见的一种遗传性周围神经病,是一组具有显著临床异质性和遗传异质性的疾病,主要表现为肢体远端肌肉进行性无力和萎缩,伴有轻到中度感觉减退,腱反射减弱和足部畸形等.近20年CMT致病基因的不断被克隆,其疾病分型、临床表型和基因表型的关系发生了巨大变化.本文主要阐述CMT的疾病分型演变、基因诊断策略、临床治疗进展. 展开更多
关键词 CHARCOT-MARIE-tooth 遗传病 分型 致病基因 诊断
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Charcot-Marie-Tooth病的研究与诊断进展 被引量:5
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作者 朱琳 胡静 《神经损伤与功能重建》 2011年第5期320-327,共8页
Charcot-Marie-Tooth病,是一组最常见的在遗传和临床上都具有高度异质性的家族性周围神经病,约占全部遗传性神经病的90%。其基本临床表现相似,目前已知的亚型多达35种,为该病的确诊带来极大困难。因此,本文综述该病各亚型的临床、电生... Charcot-Marie-Tooth病,是一组最常见的在遗传和临床上都具有高度异质性的家族性周围神经病,约占全部遗传性神经病的90%。其基本临床表现相似,目前已知的亚型多达35种,为该病的确诊带来极大困难。因此,本文综述该病各亚型的临床、电生理、周围神经病理、致病基因及有效诊断方法。 展开更多
关键词 CHARCOT-MARIE-tooth 分型 临床表现 电生理 遗传方式 致病基因 诊断
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无线系统中Bluetooth链路的有效性及可靠性研究 被引量:1
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作者 刘传菊 王克强 肖明明 《微计算机信息》 北大核心 2006年第05Z期215-216,274,共3页
本文通过蓝牙通信链路信道模型的自适应性研究,采用层次式编码方案和Turbo码编码技术,在蓝牙协议固有的编码基础上增加另一编码层,构成跨层的双重自适应结构,自适应于时变的信道特征和不同媒体业务的服务质量(QoS),最大限度地提高蓝牙... 本文通过蓝牙通信链路信道模型的自适应性研究,采用层次式编码方案和Turbo码编码技术,在蓝牙协议固有的编码基础上增加另一编码层,构成跨层的双重自适应结构,自适应于时变的信道特征和不同媒体业务的服务质量(QoS),最大限度地提高蓝牙无线链路的有效性和可靠性。 展开更多
关键词 无线测控 BLUEtooth 技术 通信链路
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Analysis of the Stress Distribution Pattern of Anatomic and Non-Anatomic Tooth Forms on Maxillary and Mandibular Edentulous Ridges—A Photoelastic Study 被引量:1
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作者 T. K. Chandrathara M. Lovely +1 位作者 Eldo Koshy Jitendra Jethwani 《Journal of Biosciences and Medicines》 2020年第6期113-126,共14页
<strong>Aim: </strong>To compare the type of stress distribution pattern occurring with anatomic and non-anatomic tooth forms beneath a complete denture in both maxillary and mandibular arch. <strong>... <strong>Aim: </strong>To compare the type of stress distribution pattern occurring with anatomic and non-anatomic tooth forms beneath a complete denture in both maxillary and mandibular arch. <strong>Methodology: </strong>A photoelastic model of the edentulous maxillary and mandibular ridge was prepared meticulously to simulate the human mandible and maxilla. Two sets of acrylic teeth with anatomic and non-anatomic occlusal forms were used to fabricate upper and lower dentures. A vertical static load of 100 N was applied through the mandibular model to the maxillary model. After load application on the dentures the photoelastic model as well as the upper and lower complete dentures were sectioned in the midline. The sectioned photoelastic model was viewed through a polariscope to observe the fringe pattern indicating varying amounts of stress distribution. In this study, a two-dimensional photoelastic stress analysis technique was utilized. <strong>Results:</strong> Force per unit area was observed more in anatomic teeth than the non-anatomic counterpart. Hence anatomic tooth forms may increase the possibility of bone resorption rate over a period of time. However, in non-anatomic lower teeth, a decrease in value was observed from posterior to anterior region. <strong>Conclusion: </strong>Stress of greater magnitude was observed with cuspal teeth whereas non-anatomic (0<span style="white-space:nowrap;">&deg;</span>) showed slightly less magnitude of stress. Depending upon the clinical situation the clinician needs to choose the type of occlusal tooth forms for edentulous patients. 展开更多
关键词 Complete Denture Anatomic tooth Forms Non Anatomic tooth Forms Stress Distribution Photoelastic Study
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Molar-Tooth构造成因争论分析 被引量:1
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作者 陈永红 《新疆地质》 CAS CSCD 2006年第4期395-397,共3页
综述了Molar-Tooth的时空分布及其形态特征,Molar-Tooth为元古代时期全球性的一种构造现象.其成因,地质学家们已争论了一个多世纪,直到今天还未取得一致的认识.归纳前人的研究成果,初步认为Molar-Tooth的成因与藻类等生物活动有关.
关键词 碳酸盐岩 Molar-tooth构造 成因
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Fate of root shell after pontic/socket shield techniques,is it better to extract the whole tooth? 被引量:1
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作者 Amit Arvind Agrawal 《World Journal of Meta-Analysis》 2021年第4期333-341,共9页
A series of changes occur in the remaining alveolar process after whole tooth extraction.The basic question is,why do the bony walls(especially the labial/buccal)get resorbed immediately after the tooth is removed?Thi... A series of changes occur in the remaining alveolar process after whole tooth extraction.The basic question is,why do the bony walls(especially the labial/buccal)get resorbed immediately after the tooth is removed?This could be because,with cementum of the concerned tooth and its periodontal ligament,the supporting bundle bone is dependent on the presence of the tooth.This loss can be compensated using numerous techniques,such as socket grafting using various biomaterials to preserve the alveolar bone and buccal grafting with guided tissue regeneration to increase the thickness of buccal bone or placement of implant immediately.However,none of these techniques prevent the modelling of the alveolar bone post-extraction.Few studies have demonstrated that preservation of the roots in the alveolar process maintains the bone volume and facilitates vertical bone growth.A histological study in animals and humans has shown that the retained root shell does not pose any interference in the osseointegration of the implant(if placed simultaneously).Although various names have been proposed to describe the concept of retaining full or part of the root to prevent the resorption of the ridge,socket-shield and pontic-shield are the two most commonly used terms worldwide.The extraction of the whole tooth might be the choice of therapy when socket-shield or pontic-shield is not possible due to anatomical variations,infections,or lack of clinical expertise.Irrespective of the size,when a whole root or a root fragment(is left in situ),it is the dentist’s ethical duty to advise/inform the patient and ensure repeated clinical and radiographic follow-up.The present study aimed to highlight the current status of these techniques,their benefits,and possible complications and address whether the paradigm of the teeth extraction methods should be altered. 展开更多
关键词 Socket shield technique Pontic shield technique Alveolar resorption tooth root tooth extraction Ridge preservation Alveolar resorption
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一个Charcot-Marie-Tooth病家系的分子遗传学分析
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作者 杨莹韵 从杨 +3 位作者 孙之星 田原 刘辰 杨威 《基础医学与临床》 CSCD 北大核心 2010年第10期1046-1050,共5页
目的鉴定一个Charcot-Marie-Tooth病(CMT)家系的致病突变。方法根据家族史、临床表现和肌电图检查结果判断家系CMT分型。采集16名家系成员外周血,提取基因组DNA。针对CMT1的6个亚型,选择微卫星标记进行连锁分析。针对PMP22基因重复突变... 目的鉴定一个Charcot-Marie-Tooth病(CMT)家系的致病突变。方法根据家族史、临床表现和肌电图检查结果判断家系CMT分型。采集16名家系成员外周血,提取基因组DNA。针对CMT1的6个亚型,选择微卫星标记进行连锁分析。针对PMP22基因重复突变,采用实时定量PCR检测家系成员。结果本家系疾病呈常染色体显性遗传。患者均有青少年发病、缓慢进展的下肢无力症状。部分患者经查体发现下肢腱反射减弱、痛触觉减弱,下肢神经传导速度均小于30 m/s,提示为CMT1型。通过连锁分析排除了CMT1A、CMT1E以外的其他4个亚型,证实患者基因组内PMP22基因存在重复突变。结论此家系患者表型为CMT1A,其致病突变为染色体17p11.2区域内PMP22基因的重复。 展开更多
关键词 CHARCOT-MARIE-tooth PMP22 重复突变 定量PCR
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Charcot-Marie-Tooth病2S型合并重度僵硬性脊柱侧凸1例及文献复习
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作者 焦洋 梁锦前 +4 位作者 林嘉琛 冯尔维 王振 赵俊铎 沈建雄 《中华骨与关节外科杂志》 2022年第5期373-376,共4页
Charcot-Marie-Tooth病(Charcot-Marie-Tooth disease,CMT),又称进行性神经性腓骨肌萎缩症,亦称遗传性运动感觉周围神经病,发病率约为2/10000[1]。CMT具有遗传异质性,迄今已发现多种致病基因[2]。依据临床表现及遗传学特点,分为8种类型... Charcot-Marie-Tooth病(Charcot-Marie-Tooth disease,CMT),又称进行性神经性腓骨肌萎缩症,亦称遗传性运动感觉周围神经病,发病率约为2/10000[1]。CMT具有遗传异质性,迄今已发现多种致病基因[2]。依据临床表现及遗传学特点,分为8种类型,40多种亚型,其中CMT2S型非常罕见. 展开更多
关键词 Charcot-Marie-tooth综合征 脊柱侧凸 诊断 治疗
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周围髓鞘蛋白22基因重复异常的Charcot-Marie-Tooth病患者临床表型分析
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作者 叶静 翟红珍 +1 位作者 廖张原 李存江 《中国康复理论与实践》 CSCD 2009年第1期17-18,共2页
目的分析Charcot-Marie-Tooth病(CMT)周围髓鞘蛋白22(PMP22)基因重复异常患者临床症状、体征和电生理特点。方法61例CMT患者,14例为有家族史的先证者,47例为散发患者,PCR-双酶切方法检测周围髓鞘蛋白22(PMP22)基因重复异常片断,详细问... 目的分析Charcot-Marie-Tooth病(CMT)周围髓鞘蛋白22(PMP22)基因重复异常患者临床症状、体征和电生理特点。方法61例CMT患者,14例为有家族史的先证者,47例为散发患者,PCR-双酶切方法检测周围髓鞘蛋白22(PMP22)基因重复异常片断,详细问病史和神经系统查体、部分患者行腰穿和腓肠神经病理检查。结果检出PMP22基因重复异常患者41例,主要临床特点为以双足背屈力弱为主的双下肢无力,伴双侧小腿为主的四肢远端萎缩,80%伴上肢远端肌萎缩,97%踝反射减弱或消失,68%伴有深浅感觉障碍,少数脑脊液蛋白增高,神经电生理和腓肠神经病理提示为脱髓鞘伴有轴索变性。结论PMP22基因重复异常的CMT患者的临床表现为以下肢远端肌萎缩和肌无力为主,伴有感觉异常;周围神经髓鞘和轴索均有病变。 展开更多
关键词 Charcot-Marie-tooth病(CMT) 周围髓鞘蛋白22(PMP22)基因 基因重复异常 临床表型 病理
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Charcot-Marie-Tooth病1X型的临床与分子遗传学研究进展
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作者 乔晓会 李越星 《中国康复理论与实践》 CSCD 2009年第1期5-7,共3页
在Charcot-Marie-Tooth病(CMT)中,1X型发病率居于第2位,它由GJB1基因突变致Connexin32蛋白结构或功能异常,引起细胞间通道缺陷导致发病。文章综述了CMT1X的典型临床特征和分子遗传学进展,总结了CMT发病机制的研究。
关键词 Charcot-Marie-tooth病1X型 临床表现 分子遗传学 综述
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