简介：AbstractIntroduction:Darier’s disease is a rare autosomal dominant skin disorder caused by mutations in ATP2A2. Recently, the high prevalence of neuropsychiatric symptoms is frequently reported in Darier’s disease patients.We present a case of patient with concurrence of Darier’s disease and depression and detected the mutations in ATP2A2.Case presentation:A 29-year-old man presented with a 15-year history of brown, harsh keratotic papules on his scalp, face, neck, trunk, axilla, ingunia and upper limbs. Meanwhile, he had persistent depression. He was diagnosed as Darier’s disease according to clinical manifestations and result of histological examination. We sequenced all coding regions of ATP2A2. The mutation c.2993_2994del (p. Val998Alafs*33) in exon 20 of ATP2A2 was detected.Discussion:Darier’s disease has been associated with several extracutaneous manifestations, in particular neuropsychiatric morbidity. Likely gene disrupting mutations in ATP2A2 was reported to have a close relationship to Darier’s disease cases with reported co-occurring neuropsychiatric features. Consistent with the previous reports, an likely gene disrupting mutations was detected in our patient with concurrence of DD and depression.Conclusion:The psychiatric disorders in patients with Darier’s disease should be well appreciated .The underlying mechanism in correlation between the mutation in ATP2A2 and neuropsychiatric phenotypes in Darier’s disease remain unclarified and warrants further investigation.

简介：Paget'sdiseaseofboneisafocaldisorderofboneremodellingcausedbyabnormallyincreasedosteoclast-mediatedboneresorption.qtleaffectedboneschangeinshaw,sizeanddirection,whiletherestoftheskeletonremainsnormal.TheclinicalconsequencesofthediseasewerefirstdescribedbySirJanlesPagetin1876(Figure1).

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简介：BACKGROUND:Itisdifficulttoattractinterestinnon-compulsory,preventive,medicalcare,andpersonsdiagnosedwithcertaindiseasesoftenignoretheexistenceofthesediseases.However,Huntington'sdisease(HD)isanexception.OBJECTIVE:ToqualitativelyanalyzefactorsmotivatingHDpatientstoparticipateinastudy,namelytheEuropeanHuntington'sDiseaseNetwork(EHDN)REGISTRY.DESIGN,TIMEANDSETTING:AnobservationalsurveywasconductedintheEHDNStudySiteinPoznan,Polandbetween2007and2008.PARTICIPANTS:Thestudyinvolved22personsaffectedwithHDand3pre-symptomaticindividuals,totaling9malesand16females.The24participantsinthisstudyhad24differentcaregivers.Atotalof25symptomaticorpre-symptomaticsubjectsparticipatedintheinitialREGISTRYvisit,aswellas6inthesecond,and1inthethird.Allsubjectsdidnotknoweachotherpriortothevisit.METHODS:AmutationintheIT15genewasconfirmedineachpatientorpre-symptomaticmutationcarrier.Anin-depthinterviewproduceddetailedinformationontheHDpatients,aswellasthecaregivers,fortheREGISTRYstudy.MAINOUTCOMEMEASURES:AqualitativeanalysisofthefactorsmotivatingHDpatientsandthepre-symptomaticmutationcarrierstoparticipateintheREGISTRYlongitudinal,observational,researchprojectwasperformed.RESULTS:TheprimarymotivatingfactorforinvolvementofHDpatientsandthecaregiversintheREGISTRYstudywasthehopethataneffectiveHDtherapywouldsoonbediscovered.InHDpatientsandthepre-symptomaticgroup,theresponsetoparticipateintheREGISTRYprojectreached100%,despitethefactthattheyknewtheprojectwasonlyanobservationalstudy.CONCLUSION:Patienthopeisthoughttobeafactorforengaginginpreventive,therapeuticactivities.However,thisisrarelymentionedinmedicalpapersandclinicaltextbooks,andisusuallyoverlookedinmedicalteaching.Clearly,effortsshouldbemadetoincludethisinclinicalpractice.

简介：Objective:Toobservetheeffectofelectroacupuncture(EA)onMeniere'sdisease.Methods:Atotalof114cases(38malesand76females)ofMeniere'sdiseaseweretreatedwithEAofErmen(耳门TE21),Tinggong(听宫SI19),Tinghui(听会GB2),Yifeng(NFDB1风TE17),Fengchi(风池GB20)andBaihui(百会GV20).Thetreatmentwasgiven3timesaweek,9timesaltogether.Follow-upwasmadeattheendofthe3rd,6thand12thmonthsaftertreatment.Results:Follow-upin114patientsshowedthatafterEAtreatment,63cases(55.26%)werecured,30(26.31%)hadremarkableimprovementintheirsymptoms,10(8.77%)respondedwithimprovementand11(9.65%)failedinthetreatment,withatotaleffectiverateof90.35%.Conclusion:EAtreatmentwaseffectiveincontrollingMeniere'sdiseasepatients'symptomsandreducingattack.

简介：Parkinsonsdisease(PD)isacommon,progressiveneurodegenerativediseasecharacterisedbydegenerationofnigrostriataldopaminergicneurons,aggregationofα-synucleinandmotorsymptoms.Currentdopamine-replacementstrategiesprovidesymptomaticrelief,howevertheireffectivenesswearoffovertimeandtheirprolongeduseleadstodisablingside-effectsinPDpatients.ThereisthereforeacriticalneedtodevelopnewdrugsanddrugtargetstoprotectdopaminergicneuronsandtheiraxonsfromdegenerationinPD.Overrecentyears,therehasbeenrobustevidencegeneratedshowingthatepigeneticdysregulationoccursinPDpatients,andthatepigeneticmodulationisapromisingtherapeuticapproachforPD.Thisarticlefirstdiscussesthepresentevidenceimplicatingglobal,anddopaminergicneuron-specific,alterationsinthemethylomeinPD,andthetherapeuticpotentialofpharmacologicallytargetingthemethylome.Itthenfocusesonanothermechanismofepigeneticregulation,histoneacetylation,anddescribeshowthehistoneacetyltransferase(HAT)andhistonedeacetylase(HDAC)enzymesthatmediatethisprocessareattractivetherapeutictargetsforPD.Itdiscussestheuseofactivatorsand/orinhibitorsofHDACsandHATsinmodelsofPD,andhowtheseapproachesfortheselectivemodulationofhistoneacetylationelicitneuroprotectiveeffects.Finally,itoutlinesthepotentialofemployingsmallmoleculeepigeneticmodulatorsasneuroprotectivetherapiesforPD,andthefutureresearchthatwillberequiredtodetermineandrealisethistherapeuticpotential.

简介：煽动性的肠疾病(IBD)经常与象眼的神经炎那样的extraintestinal表明(EIM)被联系(在上)尽管这到目前为止在仅仅一些成年病人被描述了，所有谁与Crohns疾病(CD)被影响。而且，在上并且demyelinating疾病比的被表明了在IBD病人更经常在控制人口。在我们的当前的案例报告，我们与活跃CD描述一个孩子开发了突然的盲目由于在那上双边不与任何已知的原因有关，并且那即时对类固醇的高剂量作出回应。调查和临床的后续到目前为止在这个病人排除了demyelinating疾病的发展。到我们的知识，这是第一份报告在上在有CD的一个小儿科的病人。对这个案例的可能的解释包括活跃的肠疾病的阵发性的EIM，联系自体免疫的混乱例如一周期性孤立在上，多重硬化的第一表明，或能出现在以后的后续的另一demyelinating疾病。

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简介：AbstractBackground:The prevalence rates of freezing of gait (FOG) in Parkinson’s disease (PD) vary widely, ranging from 14.0 to 55.1%. Our aim is to calculate the overall prevalence of FOG in all PD patients with different disease durations and severities.Methods:Using Medline/PubMed/Embase, we carried out a systematic literature search for studies reporting the PD and clinically relevant FOG.Results:After primary screening, a total of 35 studies were identified and further analyzed for inclusion into the analysis, and 29 studies fulfilled the quality criteria and included in this meta-analysis. The overall prevalence of FOG in PD was 39.9% (95% CI 35.3-44.5%). The FOG identified by the freezing of gait questionnaire item 3 may be more prevalent (43.8%, 95% CI 38.5-49.1%) than the FOG identified by the Unified Parkinson’s Disease Rating Scale item 14 (36.0%, 95% CI 29.0-43.1%). Disease duration and severity are both the clinical features associated with the FOG. The highest FOG prevalence rate in PD patients was seen in patients with disease durations ≥ 10 years, at 70.8%, followed that of PD patients with disease durations ≥ 5 years (53.3%), and PD patients with disease durations < 5 years (22.4%). FOG presented in 28.4% of PD patients with Hoehn and Yahr staging (H&Y) score ≤ 2.5, and in 68.4% of PD patients with H&Y score ≥ 2.5.Conclusion:This meta-analysis confirms that the prevalence of FOG in PD is considerable, and highlights the need for accurate identification of FOG in PD.

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简介：AbstractThe main treatments for Parkinson’s disease (PD) currently include surgery, rehabilitation, and most commonly, drug therapy. However, the drugs that are currently used to treat PD provide only symptomatic relief and delayed disease progression but have no curative effect and cause many adverse reactions. When considering pathogenic factors and metabolic regulation, PD and type 2 diabetes have a high rate of comorbidity; this provides a theoretical basis for the treatment of PD with first-line antidiabetic drugs. Among these agents, metformin reduces neuronal damage in the brains of PD patients via neuroprotection and the inhibition of oxidative stress and inflammatory responses, thus providing a novel strategy for the clinical treatment of PD. Here, we present the current state of knowledge about the use of metformin to treat PD and discuss its clinical prospects.

简介：ThehistogensisofextramammaryPaget’sdiseasehasnotbeensolvedandremainedcontroversial.EightcasesofextramammaryPaget’sdiseaseofgeni-tocruralregionwereinvestigatedbyalcianblueandPASstainandimmunoreactionofanti-CEAandanti-keratin.Itwasfoundthatthepatternandintensityofalcianblue,PASstainingwereidenticalforPagetcellsandsecretorycellsofapocrinesweatgland;andCEAimmunoreactivitywasuniformlyobservedinbothPagetcellsandeccrinesweatgland.Thekeratinimmunoreactionwaspositiveinkeratinocytes,apocrineandeccrinesweatgland,whereasPagetcellswerenegative.TheseresultssuggestedthatPagetcellsofextramammaryPaget’sdiseasecouldbederivedfrommultipotentialepidermalgermcells.

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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.

简介：ThisarticlereviewstheeffectivenessofintratympaniccorticosteroidsforvertigocontrolinM_eni_ere'sdiseaseat2-yearsfollow-upaccordingtotheguidelinesexpressedbytheAmericanAcademyofOtolaryngology-Head&NeckSurgery.DespitetheincreaseduseofintratympaniccorticosteroidsforvertigocontrolinM_eni_ere'sdiseasethereisdebateastotheireffectiveness,particularlycomparedtogentamicin.Evenso,afterjustasinglecourseofinjections,corticosteroidscanreliablyprovidecompletevertigocontrol(ClassA)at2-yearsinabout50%ofcasesasindicatedinarecentdouble-blindrandomizedcontrolledclinicaltrial(Pateletal.,2016).Buttheeffectivenessofintratympaniccorticosteroidstrulyincreaseswhentreatmentisprovided'as-needed',wherebycompletevertigocontrolisestablishedinupto91%ofcases.Onthebasisofavailableliterature,thereisgoodevidencetorecommendtheuseofintratympanicsteroidtreatmentforvertigocontrolinM_eni_ere'sdisease,butpatientsmustbemonitoredfornon-response.Therationalefortreatingpatientsas-neededandthepossiblereasonsforcorticosteroidnonresponsearediscussed.

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