简介：摘要目的分析5号染色体短臂（5p）末端的5p15.1-5p15.33重复患儿的临床特点及遗传学特征。方法收集四川大学华西第二医院儿童重症医学科于2021年7月确诊的存在5p15.1-5p15.33重复的1例患儿，总结其临床资料，并对文献报道的5p重复综合征的病例特点进行总结分析。结果患儿为男性，就诊时1岁5个月，以出生后逐渐出现生长受限及发育迟缓为主要临床表现，伴颅面畸形；7月龄时因四肢抽动被诊断为癫痫；目前为2岁龄，仍反复抽搐，不能抬头、独坐，不会爬，不会咿呀说话，伴肌张力减退。反复行头颅磁共振成像检查均示胼胝体发育不良。患儿父母表型正常。患儿拷贝数变异测序结果显示染色体5p15.1-5p15.33（chr5：1934522-18905656）存在部分重叠，根据拷贝数变异评判标准，判定为致病拷贝数变异，父母未检出异常。根据本研究设定的检索策略，共检索到10篇相关文献（均为英文）报道的17例及数据库中收录的4例，加上本例，共22例5p重复综合征患者，其中17例年龄≤14岁，起病年龄7（0，18）岁，男女比约为1.1∶1。22例患者中颅面畸形19例，发育障碍18例，骨骼/肌肉发育异常15例，自闭症11例，注意力缺陷多动障碍9例，智力障碍8例，肥胖症5例，癫痫5例，先天性心脏发育异常2例，肌张力减退4例，斜视/远视2例，表现为胼胝体发育不良、内分泌功能紊乱、腹股沟疝、脐疝各1例；多发畸形19例，单一畸形3例。结论5p15.1-5p15.33重复可能为该患儿的遗传学病因。面部畸形、发育迟缓、骨骼/肌肉发育异常、智力残疾、自闭症谱系障碍、注意力缺陷多动障碍是5p拷贝数重复最主要的临床表型；胼胝体发育不良可能为该位置染色体重复的扩展表型。

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简介：［摘要］目的探讨Fahr’s病的CT表现和临床资料，以更好地认识Fahr’s病。方法回顾性分析9例临床确诊为Fahr’s病的临床和影像学资料，全部病例均行颅脑CT扫描。结果全部病例发病年龄为15～70岁，血清钙、磷均在正常范围，CT表现为颅内广泛对称性钙化，主要累及基底节、小脑齿状核、皮质下和丘脑。临床表现最常见有帕金森综合征，其次有精神障碍、记忆力下降、智力低下、癫痫、舞蹈症等。结论根据CT表现、临床表现、实验室检查和家族病史，可以对Fahr’s病作出正确的诊断，CT是Fahr’s病诊断最有价值的影像学检查，预防与对症治疗是目前主要治疗目的。

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简介：摘要目的探讨乳头Paget’s病的临床特点、诊断及治疗方法，提高对乳头Paget’s病的诊治水平。方法回顾性分析我院2011年8月至2014年8月间收治的12例乳头Paget’s病患者的临床资料结果单纯湿疹样改变者2例，单纯乳腺肿块者3例，乳头湿疹样改变伴乳腺肿块者7例。最终病理证实乳腺浸润性导管癌伴乳头Paget’s病者8例，占所有病例的66.7%；导管内癌伴乳头Paget’s病者3例，占所有病例的25%；导管内癌局部微浸润伴乳头Paget’s病者1例，占所有病例的8.3%。结论乳头paget’s多伴有乳腺深部肿块，伴肿块的乳头paget’s病出现浸润性乳腺癌的可能性较大。预后较单纯浸润性乳腺癌差，需更为积极的综合治疗。

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简介：腋臭是美容外科临床工作中的常见病之一，目前的治疗方法很多，现介绍“S”形切口皮下修剪术治疗腋臭，效果较好，并发症少，现报道如下：

简介：AbstractTrauma-induced pulmonary thromboembolism is the second leading cause of death in severe trauma patients. Primary fibrinolytic hyperactivity combined with hemorrhage and consequential hypercoagulability in severe trauma patients create a huge challenge for clinicians. It is crucial to ensure a safe anticoagulant therapy for trauma patients, but a series of clinical issues need to be answered first, for example, what are the risk factors for traumatic venous thromboembolism? How to assess and determine the status of coagulation dysfunction of patients? When is the optimal timing to initiate pharmacologic prophylaxis for venous thromboembolism? What types of prophylactic agents should be used? How to manage the anticoagulation-related hemorrhage and to determine the optimal timing of restarting chemoprophylaxis? The present review attempts to answer the above questions.

简介：AbstractBackground:Meniere’s disease (MD) is an idiopathic disorder of the inner ear, which manifests as cochleo-vestibular dysfunction. Hearing loss will progress to a profound levelin a subset of patients with MD, and vestibular interventions can independently cause loss of hearing. The aim of this study was to systematically review the published literature describing the safety and efficacy of CI in patients with MD.Materials and methods:A systematic literature review was conducted in accordance PRISMA guidelines to identify articles that assessed at least one functional outcome in patients with MD who underwent CI. Demographic information, disease history, MD symptoms, outcomes measures, and complications related to CI were extracted from included studies.Results:In total, 17 studies were included, and 182 patients with MD underwent CI. The weighted-mean age was 61.9 years (range 27-85). Study objective and methodology varied, and there was significant heterogeneity in CI outcome measures reported. In total, 179 (98.3%) of 182 patients reported objective improvements in at least one hearing metric after CI. A total of 69 patients (37.9%) reported vertigo or severe dizziness prior to CI, compared to 22 patients (15.4%) postoperatively. Two studies reported significant reductions in postoperative Tinnitus Handicap Inventory score (THI). Quality of life assessments varied between studies. Complications rates were low with only nine patients (4.9%) reporting a serious CI-related complication.Conclusions:This systematic review evaluated 17 studies describing the safety and efficacy of CI in patients with MD and encountered many challenges due to small sample sizes, and heterogeneity in study design and outcomes measured. Despite these limitations, this study of 182 patients is to the best of our knowledge the largest systematic review evaluating the safety and efficacy of CI in MD. The results of this study support the need for a standardized approach to evaluating outcomes of CI in patients with MD in future studies.

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简介：AIM:Toinvestigatethelifetimeriskofdevelopmentofesophagealadenocarcinomaand/orhigh-gradedysplasiainpatientsdiagnosedwithBarrett’sesophagus.METHODS:DatawereextractedfromtheUnitedKingdomNationalBarrett’sOesophagusRegistryondateofdiagnosis,patientageandgenderof7877patientsfromwhohadbeenregisteredfrom35UnitedKingdomcenters.LifeexpectancywasevaluatedfromUnitedKingdomNationalStatisticsdatabasedupongenderandageatyearatdiagnosis.Thesedatawerethenusedwithpublishedestimatesofannualadenocarcinomaandhigh-gradedysplasiaincidencesfrommetaanalysesandlargepopulation-basedstudiestoestimateoveralllifetimeriskofdevelopmentofthesestudyendpoints.RESULTS:ThemeanageatdiagnosisofBarrett’sesophaguswas61.6yearsinmalesand67.3yearsinfemales.Themeanlifeexpectancyatdiagnosiswas23.1yearsinmales,20.7yearsinfemalesand22.2yearsoverall.Usingdatafrompublishedmeta-analyses,thelifetimeriskofdevelopmentofadenocarcinomawasbetween1in8and1in14andthelifetimeriskofhigh-gradedysplasiaoradenocarcinomawas1in5to1in6.Usingdatafrom3largerecentpopulation-basedcohortstudiesthelifetimeriskofadenocarcinomawasbetween1in10and1in37andofthecombinedendpointofhigh-gradedysplasiaandadenocarcinomawasbetween1in8and1in20.AgeatBarrett’sesophagusdiagnosisisreducingandlifeexpectancyisincreasing,whichwillpartiallycounter-balancelowerannualcancerincidence.CONCLUSION:Thereisasignificantlifetimeriskofdevelopmentofhigh-gradedysplasiaandadenocarcinomainBarrett’sesophagus.

简介：韩碧英教授是在针灸部门ofGuang的一位主要医生汉语的中国学院的一所人医院医学科学。她从事临床的实践将近40年了并且积累了丰富的临床的经验，特别在临床的症候群区别。我是幸运的跟随教授汉在周末练习针灸并且向他学习。我现在为参考与证明的格介绍她的学术想法和临床的经验。

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简介：【摘要】回顾性分析 5例 Madelung’s病病人资料，探讨此病病因、临床表现及治疗方法。该病病因尚不清，常见于中年男性，肿块主要对称分布于头颈部及上躯干部，呈典型“牛颈”或“驼峰”样外观。手术切除为主要治疗方法。该病恶变率低、预后良好。

简介：AbstractObjective:To review indications and techniques for the endoscopic endonasal approach to the craniovertebral junction (CVJ), analyze postoperative outcomes, and discuss important technical considerations.Methods:A retrospective analysis was performed on all patients undergoing endonasal endoscopic approaches to the CVJ from May 2007 to June 2017. Demographic information, presenting symptoms, imaging results, treatment course, postoperative functional status, and follow-up were recorded.Results:There was a total of 30 patients in this series, with a mean follow-up of 11.7 months. The average age was 33.6 years (range, 5-75 years), with 18 females and 12 males. The majority of patients (n = 22, 73.3%) had Chiari malformation type 1 with basilar invagination and symptomatic cervicomedullary compression as the indication for surgery. Intraoperative cerebrospinal fluid leak (CSF) was noted in 3 cases of odontoid resection and a single case of skull base resection. There were no postoperative CSF leaks. Overall, 81% of patients resumed regular diet by post-operative day 2 (range, 0-8 days). Severe postoperative dysphagia occurred in two cases with one requiring gastrostomy tube placement and another utilizing total parenteral nutrition for support prior to eventual gastrostomy. On average, patients were extubated by postoperative day 0.93 (range 0-3 days), with 85% extubated by postoperative day 1. A tracheotomy was required in one patient.Conclusion:The endonasal endoscopic approach is a valuable technique for access to the CVJ with minimal disruption of respiratory and alimentary function.

简介：Theapplicationofhumanhomografthasbeenpopularincardiovascularsurgeryandshownperfecteffects.Butthedifficultytogetgraftgreatlylimiteditsclinicalap-plication.Thethawedhomograftcannotbeusedinsomecasessinceitisnotclearwhetheritcanbere-cryopreservedwithoutdamage.Weconductedthepresentstudytoknowthechangesinviabilityofthehomograftafterrefreezinginsixhumanpul-