早发型先天性骨梅毒X线表现分析(附3例报告及文献复习)

第43卷第1期Journal of Nongken Medicine Vol.43No.1DOORS 综合征一例病例报道及文献复习艾丹阳周建国（复旦大学附属儿科医院新生儿科，上海，201102）【摘要】目的：通过一例DOORS(耳聋-指甲发育不良-骨发育不良-神经发育迟缓-惊厥)综合征新生儿病例报道及文献复习，分析该病的临床特点及诊断。

方法：报道复旦大学附属儿科医院收治的1例DOORS 综合征病例，结合文献复习，分析DOORS 综合征的临床特点、诊断等。

结果：一例足月出生新生儿，因出生后反复惊厥入院，入院查体发现面容粗狂，指/趾甲发育不良，小指短，心前区杂音，肌张力低下。

脑干诱发电位显示极重度听力损害，手足部影像学检查提示指/趾骨发育不良，头颅磁共振检查提示脑干及双侧基底节区异常信号，脑电图有多灶尖波，尖慢波发放，心脏彩超提示室间隔缺损，卵圆孔未闭。

通过文献检索，自2000年以来，10篇病例报道发表，包括本例患儿在内，共报道13例患者。

男性患者7例，女6例，除DOORS 特征性表现外；脑部影像学检查异常，先天性心脏病等是常见合并症。

结论：DOORS 综合征发病率低，临床上一旦发现指/趾甲发育不良、惊厥的患儿，需进一步检查，警惕其他相关畸形，如耳聋、神经发育迟缓等，以便早期诊断，评估相关并发症，及时干预，改善预后。

【关键词】DOORS 综合征；耳聋；指甲发育不良；骨发育不良；神经发育迟缓；惊厥中图分类号：R722.1文献标识码：ADOORS Syndrome ：a Case Report and the Literature ReviewAI Dan-yang,ZHOU Jian-guo（Neonatology department,Children ’s Hospital of Fudan University,Shanghai,201102）【Abstract 】Objective:To detect the clinical characteristics of DOORS syndrome and to review the latestrelevant clinical literatures.Method:Clinical features and investigations of a case with DOORS syndrome admitted to Children ’s hospital of Fudan University was reported.Clinical characteristics of DOOR syndrome cases reported in English databases such as PubMed and OVID were analyzed and reviewed .Results:A male neonate was admitted to neonatal intensive care unit due to refractory seizure events,and physical examinations and following investigations revealed deafness,onychodystrophy,osteodystrophy,mental retardation.So the diagnosis of DOORS syndrome was confirmed.After literature review since 2000,thirteen cases including the current case with DOORS syndrome were retrieved and analyzed.Associated clinical symptoms and anomalies apart from the typical five anomalies of DOORS included abnormal cranial CT/MRI images,and congenital heart defects.Conclusi ons:DOORS syndrome as a rare disease should be suspected when nail dystrophy and seizure are found in the clinical practice.Identification of associated malformations and close follow-up are required,and interventions should be carried out early in order to ensure a good outcome.【Key words 】DOORS syndrome;Congenitaldeafness;Onychodystrophy;Osteodystrophy;Mental retardation;Seizure通讯作者：周建国，副主任医师，硕士研究生导师，从事新生儿诊治方面的研究。

石骨症的临床及X线表现--着重分析7个家族22例
王成林;王立振;吴政光;刘辉安;陆普选;龚小龙
【期刊名称】《中国医学影像技术》
【年(卷),期】2004(020)005
【摘要】目的探讨家族性石骨症的遗传、临床及X线表现特点.方法对59例石骨症患者临床资料作回顾性总结分析.结果在家族性病例中以恶性型(幼儿型)居多,多在Ⅰ、Ⅱ代发病,偶见连续三代发病者.散发型中则以良性型(成人型)为主.X线表现以骨质硬化,髓腔闭塞为基本特征,椎体"夹心征"及髂骨"同心圆征"为其特征性表现.结论临床工作中要注重对石骨症患者进行家系调查,尤其对有遗传倾向者,有必要在胎儿期进行检测.
【总页数】3页(P763-765)
【作者】王成林;王立振;吴政光;刘辉安;陆普选;龚小龙
【作者单位】北京大学深圳医院影像中心,广东深圳,518036;黑龙江省双鸭山煤碳总医院影像科;广东省177医院影像科;深圳市布吉人民医院放射科;深圳市东湖医院放射科;深圳市东湖医院放射科
【正文语种】中文
【中图分类】R589.9;R814.41
【相关文献】
1.石骨症X线表现:2例报告 [J], 石新霞;宋锦文;李中华
2.家族性结肠息肉症临床X线表现及其染色体变异的初步观察(附四个家族谱系调
查报告) [J], 蔡锡类
3.全身石骨症合并病理骨折X线表现分析 [J], 刘舰;齐延红
4.婴儿石骨症合并佝偻病X线表现一例 [J], 刘东;马达智
5.石骨症X线表现1例 [J], 王武军;王毅;张伟国
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.病例报告Case report.Charcot’s 关节病一例报道李灿　孙娟娟　王朝夫DOI: 10.3969/j.issn.2095-252X.2015.05.022 中图分类号：R684作者单位：200032 上海，复旦大学附属肿瘤医院病理科通信作者：王朝夫，Email:******************A case report of Charcot’s joint LI Can, SUN Juan-juan, WANG Chao-fu. Department of Pathology, CancerHospital, Fudan University, Shanghai, 200032, PRCCorresponding author:WANGChao-fu,Email:******************【Abstract】Objective To investigate the clinicopathologic features and main points of diagnosis and differential diagnosis of Charcot’s joint. Methods A case of Charcot’s joint was studied and the related literatures were reviewed. Its clinical manifestations and pathomorphological characteristics were analyzed. Results A 41-year-old male was admitted to the hospital due to loss of range of motion ( ROM ) of the left shoulder joint progressively and painlessly. The X-ray showed the humeral head was partially missing. The CT represent ed irregular soft tissue mass es in high density with an indistinct edge, and discontiguous left scapulabone. The MRI showed changes of syringomyelia was presented in the glenoid cavity of the left shoulder joint, humeral head, proximal humerus and spinal cord of thoracic segments. According to the histological findings, free bone detritus accumulationswere microscopicallyseen in the lesions and adjacent soft tissues at an early stage, andthe secondary changes due to the reactions of osteoclast-likemultinucleated giant cells and inflammatory cells and proliferation of fibrous tissues. The formation of pannusacted as an important basisfor distinguishing Charcot’s joint and other kinds of arthritis. Conclusions Charcot’s joint isa kind of neuropathic arthropathy which lacks distinctive histopathologic features. So it is necessary to combineclinical features, pathological manifestations with radiographic examination results in clarifying the diagnosis. Only based on typical clinical symptoms, clear imaging features and mixed pathological changes of injury and repair, can a definitediagnosis be made.【Key words】 Charcot’s joint; Pathological examination; Imaging examination【关键词】　Charcot’s 关节病；病理学检查；影像学检查Charcot’s 关节神经性关节病也称为 Charcot’s 关节病，1868 年 Charcot 首先描述。

全自动化学发光仪筛查梅毒螺旋体抗体结果分析乔秀真【摘要】Objective To comprehensively analyze the examination results of treponema pallidum antibody detected by full-automatic chemiluminescence apparatus (A2000).Methods A total of 10,715 patients who were hospitalized and routinely examined before blood transfusion and before surgery in our hospital were enrolled in the study,the serum levels of treponema pallidum antibody were detected by chemiluminescent immunoassay (CLIA).Results The positive rate of treponema pallidum antibody was the highest in department of dermatology (52 cases),accounting for 0.49％ of the total specimens,no false positive specimen was found.The positive rate of treponema pallidum antibody was increased in department of obstetrics and gynecology,which was second only to department of dermatology.In department of gynaecology and obstetrics,there were 24 cases of preliminary screening positive,6 cases of false positive.In dpsrtment of internal medicine,there were 15 cases of positive and 2 cases of false positive,moreover,there were 13 cases of positive and 3 cases of false positive in department of surgery.In addition there were 13 cases of preliminary screening positive,without false positive specimen in department of ophthalmology and otorhinolaryngology,and there was 1 case of preliminary screening positive,1 case of false positive in department of osteology.Besides there were 2 cases of preliminary screening positive,without false positivespecimen in ICU,however,the positive rate of treponema pallidum antibody was 0 in department of pediatrics.Among 10715 specimens,there was no false negative specimen,there were 12 cases of false positive specimens,which were all weakly positive,with S/Co value being 1 ～3.32,and total false positive rate was 0.11％.Conclusion The application of full-automatic chemiluminescence detector (A2000) by means of CLIA in a great number of preliminary screening detection of syphilis has advantages of quick detection and high sensitivity,which can meet the clinical needs,however,because of its high sensitivity,the positive results should not be regarded as the only basis for clinical diagnosis and treatment,it should be combined with the patient's symptoms,medical history,other laboratory methodology examination,the patient's response to treatment and epidemiological information to evaluate the detection results.%目的对全自动化学发光仪(A2000)筛检梅毒螺旋体抗体的结果进行综合分析.方法选取住院的输血前和手术前常规检查患者及门诊就诊患者10 715例,应用磁微粒化学发光法(CLIA)检测血清中梅毒螺旋体抗体.结果梅毒螺旋体抗体阳性标本以皮肤性病科(52例)最多,占总检测人数的0.49％,无假阳性现象;妇产科梅毒螺旋体抗体阳性标本增高,仅次于皮肤性病科,妇产科初筛阳性24例,假阳性6例;整个内科梅毒螺旋体抗体阳性15例,假阳性2例;整个外科梅毒螺旋体抗体阳性13例,假阳性3例;五官科初筛阳性9例,无假阳性;骨科初筛阳性1例,假阳性1例;重症医学科初筛阳性2例,无假阳性;儿科梅毒螺旋体抗体阳性率为0.10 715例血标本总共假阴性0例,假阳性12例,结果均为弱阳性,S/CO值介于1～3.32,总假阳性率0.11％.结论全自动化学发光仪(A2000)应用CLIA法对于梅毒的大批量初筛检测,快速且灵敏度高,可满足临床需要,但正因为它的高灵敏性,所测得的阳性结果,不应作为临床诊治的唯一依据,应结合患者的体征、病史、其他的实验室方法学检查、患者的治疗反应及流行病学等信息进行综合考虑.尤其要重视筛检S/CO值介于1～3.32的弱阳性结果,工作中要注意血样本离心要充分,避免技术性假阳性.对于筛检阳性结果要及时通知临床并进行沟通,建议确证,避免因假阳性情况误导临床治疗.【期刊名称】《河北医药》【年(卷),期】2018(040)003【总页数】4页(P452-455)【关键词】梅毒螺旋体抗体;全自动化学发光仪(A2000);孕妇;老年男性【作者】乔秀真【作者单位】053000 河北省衡水市第二人民医院检验科【正文语种】中文【中图分类】R377.1梅毒呈全世界流行，据WHO估计，全球每年约有1 200万新发病例。

海绵窦综合征1例分析并文献复习朱凯;陈关福【期刊名称】《浙江中西医结合杂志》【年(卷),期】2015(000)003【总页数】5页(P295-298,0)【关键词】海绵窦综合征;临床报告;诊断与治疗【作者】朱凯;陈关福【作者单位】浙江省湖州市中心医院口腔科湖州 313000;浙江大学附属第二医院杭州 310000【正文语种】中文海绵窦综合征（cavernous sinus syndrome，CSS）是以痛性眼肌麻痹表现为主，为海绵窦区由于多种原因而受侵犯，影响其邻近多根（组）颅神经受累的临床症候群。

临床上常由于肿瘤、炎症、外伤、血管病变等引起，以神经外科及神经内科为主要首诊科室，口腔科首诊较为少见，本文报道1例收治口腔科的海绵窦综合征，并结合文献资料，对该疾病进行文献复习及分析。

患者张XX，女性，67岁，因“左上睑下垂半年，左面部肿胀伴张口受限2个月”于2010年3月17日入院。

患者半年前无明显诱因下出现左上睑睁眼困难，下垂渐渐加重，偶有头晕不适。

2个月前，下垂加重至近乎完全遮挡左眼，且出现左面部肿胀伴张口受限，同时左耳听力进行性下降，未就诊。

22天前因肿胀加剧，且出现行走不稳现象而至浙江省人民医院就诊，查血培养示“表皮葡萄球菌”，予全身抗炎治疗10天（具体不详），体温较前下降，左侧肢体活动障碍较前好转，余疗效不佳。

遂于3月5日出院来浙江大学附属第二医院门诊就诊，行左侧咽隐窝肿块切取活检，病理示“少量黏膜组织伴大量坏死”，考虑炎症为主，行全身抗炎治疗（用药不详）5天，肿胀有所好转，患者遂返当地。

3天前左颌面部复又肿胀，且伴张口受限，故来复诊，行左翼颌间隙穿刺，得稀薄黄色液体约10mL，收治入院。

体格检查：急性重病容，神志尚清，精神软，嗜睡状。

左侧颌面部肿胀明显，张口度一指，双侧颞下颌关节区无压痛。

左眼上睑下垂，睁眼困难，左眼球外展、内收、上视、下视均受限，球结膜轻度水肿，眼球前突，瞳孔散大，对光反射迟钝。

2021,25(4):19-21,25.实用临床医药杂志Journal of Clinical Medicine in Practice・19・改良"三位一体”防护法预防脊柱机器人俯卧位手术中压力性损伤的效果冯建萍，徐娟，赵娟，戴荣兄，张萍，李珍宇，杨美玲(南京医科大学第一附属医院/江苏省人民医院手术室，江苏南京，210022)摘要：目的探讨改良“三位一体”防护法预防脊柱机器人俯卧位手术中压力性损伤(PI)的效果。

方法选择行脊柱机器人椎间融合器植入植骨融合手术患者61例，随机分为观察组31例和对照组30例。

观察组采用改良“三位一体”防护法，即联合使用石蜡油、经亲水助剂处理后的熔喷无纺布及硅凝胶垫；对照组采用常规方法，即联合使用液体敷料、泡沫敷料及硅凝胶垫。

比较2组患者术后皮肤受压情况(包括皮肤压痕、红斑、水疱、破损等)。

结果观察组头面部、左侧競部、右侧競部的P)发生率低于对照组,差异均有统计学意义(P<0.05)。

观察组黏胶性皮肤损伤发生率为0,低于对照组的19.67%(5/30)，差异有统计学意义(P<0.0/)o结论脊柱机器人俯卧位手术中应用改良“三位一体”防护法能显著降低PI、黏胶性皮肤损伤发生率。

关键词：脊柱手术；机器人；俯卧位；压力性损伤中图分类号：R681.0；R472文献标志码：A文章编号：1972-2303(2221)04-019-03DO)：10.7719/jcmp.20210330Effect of modified"Three-in-one"protection methodin prevention of pressuro injury in patients withprone position suryery by spinal robohsFENG Jianpine,XU Juan,ZHAO Juan,DAI Ronexione,ZHANG Pine,LI Zhevyu,YANG Meiline(Operation Room,,The First Affiliated Hospital of Nanjing Medical University,JiangsuProvincial People's Hospital,Nanjing,Jiangsu,210029)Abstroct:Objective To iavestinaid thd effect of moUified11Three-in-oud"protectiou methoU in prevedtiou of pressure injro(PI)in patiecit with prouc positiou surneo by spinai roUott.MethodsA totai of61plidtp witli interOoUy fusiou cage implantatiou and bouc graft fusiou by spinai aUottwere raniomiy yiviOed也)!)oUservatiou group(n二31)and coutrol group(n二30).The oUservatiou group wnt treatei wii moUifiei11T0rec-in-ode H protectiou mcthoU,tint wnt thc combinatiou of parai Un oil,O ic melt blown nonwoad fanric ant silicoud gd pat processed by OyclrouPiVc dclclitiycs,whiid O ic coutroU group wns tredted withi thc couvedtiouai methoU,that wns thc combinatiou of liquin iresso ing,foam iressina ana silicouc gd pat.TI ic postouerativa couaitiou of pressure ou spin(iacluyina spin miedtatiou,erythmn,blistca,,eto.)of thc two groups were compared.Results TI ic iacinedco ratds of P)in the redious of heat ana faco ,led hip ana right hip in W c oUservatiou group were sipnificantty I owcv thaa those in W c coutroU group(P<0.05).Thr incinedco ratr of mpcinous spin injpro in the oUservatiou group was0 ,which wae sipnificantty lowea thaa19.07%(5/30)in the coutroU group(P<0.05).Conclusion Applicatiou of moUified11Three-in-one"protectioa methoU in proue positiou seraero by spinai aUots coa sipnificantty redpco the iacinedco ates of P)ana mucinous spin injure.Key worOs:spinai seraero;roUots;proue positiou；pressere injpro脊柱俯卧位手术患者因麻醉状态、禁饮禁食、的反射性保护作用，易发生压力性损伤(PI)⑴。

中西医结合骨伤科学试题1一. 单项选择题(下列五个备选答案中只有一个是最佳或最恰当的答案)1. 正常的桡骨远端掌倾角是（）A、10 0 ～15 0B、15 0 ～25 0C、25 0 ～40 0D、30 0 ～45 0E、45 0 ～50 02. 桡骨远端骨折出现餐叉样畸形的是A.屈曲型B.粉碎型C.屈肘型D.伸直型E.各型均可3. 桡尺骨干双骨折，若为传达暴力所至者，骨折线表现为A. 两骨折线平面无一定规律B. 桡骨折线在上，尺骨折线在下C. 尺骨折线在上，桡骨折线在下D. 桡尺骨折线在同一平面E. 以上都不是4. 肱骨干骨折后，出现“垂腕”，说明损伤了A.正中神经B.尺神经C.肌皮神经D.腋神经E.桡神经5. 下列体征，不是腰椎间盘突出症体征。

A.屈颈试验阳性B.直腿抬高试验阳性C.跟腱反射亢进D.腰部畸形E.股神经牵拉试验阳性6. 类风湿关节炎重要诊断依据之一是：A.夜间痛醒；B.X线表现骶髂关节模糊；C.关节晨僵；D.关节游走性对称性疼痛；E.以上都不是7. 化脓性关节炎在以下期恢复后，其关节功能可完全恢复，不留后遗症。

A. 浆液纤维蛋白渗出期；B . 浆液性渗出期；D. 脓性渗出期；C. 滑膜增生期；E. 以上都不是8. ______的体征, 粘膝征阳性。

A. 膝关节前脱位B. 膝关节后脱位C. 髋关节前脱位D. 髋关节后脱位E. 膝关节侧方脱位9. 神经根型颈椎病检查, 可见______。

A. 上肢肌张力增高B. 腱反射亢进C. 神经根牵拉试验阳性D. 霍夫曼征阳性E. 以上均不是10. 踝关节骨折脱位分类中，具有外踝骨折位置较低、多为横断骨折特点的，应首选以下。

A. 旋前背伸型B. 旋后内收型C. 旋后外旋型D. 旋前外展型E. 旋前外旋型11. 股神经牵拉试验阴性，提示。

A. 腰4/5腰椎间盘突出B. 坐骨神经受压C. 腰5/骶1椎间盘突出D. 腰3/4椎间盘突出E. 以上均不是12. 以下骨折，不适用于行胫骨结节骨牵引。

重叠综合征一例报告并文献复习殷振杰;任英;张岩【摘要】目的：探讨同时罹患类风湿关节炎( rheumatoid arthritis, RA)、系统性红斑狼疮( systemic lupus erythe-matosus, SLE)及系统性硬化( systemicscleroderma, SSc)的重叠综合征发病特点,减少误诊。

方法对收治的同时罹患RA、SLE及SSc的重叠综合征1例的临床资料进行分析,并复习相关文献。

结果本例先以RA表现起病,后逐渐出现SSc及SLE症状。

依据临床表现(多关节肿痛、多浆膜腔积液、雷诺现象、面具脸等)及查抗CCP抗体、抗核抗体、抗Sm抗体均阳性,明确诊断为重叠综合征,予糖皮质激素、免疫抑制剂及扩血管药物治疗后病情缓解。

回顾文献发现国内较少有同时罹患3种结缔组织病的报道,国外文献亦很少报道此类病例。

结论同时罹患RA、SLE及SSc的重叠综合征临床极少见,治疗应以解决临床突出病变为主,同时综合考虑患者的病情特点,制定个体化治疗方案。

【期刊名称】《临床误诊误治》【年(卷),期】2016(029)009【总页数】3页(P38-40)【关键词】综合征,重叠;关节炎,类风湿;红斑狼疮,系统性;硬化,系统性【作者】殷振杰;任英;张岩【作者单位】710038 西安，第四军医大学唐都医院风湿免疫科;710038 西安，第四军医大学唐都医院风湿免疫科;710038 西安，第四军医大学唐都医院风湿免疫科【正文语种】中文【中图分类】R442.8重叠综合征(overlap syndromes， OS)是指患者同时或先后出现两种或两种以上明确诊断的结缔组织病，一般为多发性肌炎(polymyositis， PM)、类风湿关节炎(rheumatoid arthritis， RA)、系统性红斑狼疮(systemic lupus erythematosus，SLE)、干燥综合征(siccasyndrome， SS)、系统性硬化(systemicscleroderma，SSc)中的两种或两种以上的疾病重叠[1-2]。