简介：AbstractHepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients with PhK deficiency may get glycogen storage disease (GSD) type-IXa, an X-linked liver glycogenosis disease. To inform genetic counseling in a family with two affected GSD brothers, we performed a genetic analysis. The GSD in the older brother was confirmed by histological examination of a liver biopsy, which showed glycogen accumulation in liver cells. A liver biopsy was not available from the younger brother. The two patients and their parents were analyzed by whole exome sequencing. A pathogenic mutation in a gene encoding a regulatory subunit of PhK, PHKA2 located on chromosome Xp22, was identified as c.G3373A (p.E1125K) and confirmed by Sanger sequencing. The proband’s maternal grandparents and the brothers and sisters of the proband’s maternal grandfather were physically examined and genetically tested by Sanger sequencing. Pedigree analysis showed that the mother was a carrier and that the two patients inherited the mutation from their undiagnosed maternal grandfather. Moreover, among the maternal grandfather and four granduncles, three of them possessed the same mutation and four suffered from fatty liver. This is the first report of this mutation causing X-linked liver glycogenosis in a Chinese family and shows that GSD IXa is a mild form of glycogenosis in terms of clinical symptoms, indicating that GSD may be undiagnosed or underestimated. Nevertheless, to provide appropriate intervention and genetic counseling, early identification of the genetic cause is imperative. This study was approved by the Ethics Committee of First Affiliated Hospital, Hunan University of Chinese Medicine (approval No. HN-LL-ZFKY-2018-001-01) on January 12, 2018.

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简介：Male,ageof27years.Historyofthepresentdisease:Intherecentthreeweeks,thepatienthasthesymptomsincludingtiredness,difficultfallinginsleepevensleeplessnessduringwholenight,accompaniedwithrestlessness,palpitation,poorappetite,amnesia.

简介：关键词针灸艾灸治疗-疲劳症候群，长期-关节炎，风湿病-大肠炎，Ulcerative-医药记录鍏抽敭璇？?堢伕鐤楁硶-鐤插姵缁煎悎寰？鎱㈡€?-鍏宠妭鐐？绫婚婀?-缁撹偁鐐？婧冪枴鎬?-鐥呮CLC数字R246.1资金项目：上海领先的学术纪律工程(S30304)作者：朱毅(1971鈥?，女、出席医生

简介：FANGXX,female,ageof49years.HerfirstvisitwasonJune21,2001.

简介：Thesethreecasesofreinfectionsyphilisallhadcompletemedicalhistories,clinicalsymptoms,andlaboratoryrecordsofpriorprimaryorsecondarysyphilisinfection.Theauthorheldthatthemainreasonforreinfectionwasfailureofdiagnosisandtreatmentofsexpartners.

简介：ZhouXX,female,17yearsold,astudent.HerfirstvisitwasonJune16,1998.

简介：Case1TANGXX,female,ateacher,aged51,visitedourclinicinNovemberof2003.Chiefcomplaints:Shecomplainedofhavinggotheadache,nausea,blurredvision,stiffnessofneck,painattheleftshoulder,andnumbnessofthemiddle,thirdandthelittlefingersfor5yearswhichaggravatedinrecentdaysatthattreatmenttime.

简介：Theauthorhastreated48casesofpsoriasisusinglongneedlecombinedwithcup-ping.of48cases,32cases（67％）werecured,10（21％）markedlyeffective,6（12％）effective.Thetotaleffectiveratewas100％.

简介：目的：观察针刺治疗失眠症的临床疗效。方法：86例失眠症患者，采用针刺为主治疗。每日1次，5天为1疗程，疗程间休息2d，4个疗程后统计疗效，并用匹兹堡睡眠质量指数（PittsburghSleepQualityIndex，PSQI）观察治疗前后的总积分。结果：总有效率为9514％，PSQI总积分治疗前后比较差异有统计学意义（P〈0．01）。结论：针剌治疗失眠症疗效确切，方法安全，可改善患者的生活质量和身体功能。

简介：锁骨下的脉管的损害说明所有脉管的损害的1%-5%。如果没及时发现或迅速设法，锁骨下的脉管的损害是可能的引起出血性的吃惊甚至死亡。从通过2003的8月的1998的三月，有锁骨下的脉管的损害的15个盒子的一个总数在我们的部门被对待。细节在这份报告的redescribed。

简介：AbstractIntroduction:Eruptive cutaneous collagenoma is non familial connective tissue nevi of unknown etiology presented with an abrupt onset. To date, the literatures on eruptive cutaneous collagenoma are extremely rare in china.Here, we report two women with eruptive cutaneous collagenoma.Case present:Two women presented with multiple asymptomatic, skin-colored papules and nodules on the trunk and extremities with no systemic involvement. Histopathology revealed dense, coarse collagen fibers by hematoxylin-esoin stain and decreased, fragmented elastic fibers by Elastic stain compared with the normal skin. Basing on these findings, the diagnosis of eruptive cutaneous collagenoma was made. No specific treatment was given.Discussion:Eruptive cutaneous collagenoma is a very rare dermatosis that is often misdiagnosed as other connective tissue nevi. The pathogenesis is unclear, and also no efficient treatment is available. It is usually diagnosed based on clinical and histopathological findings.Conclusion:The present cases are relatively rare type of eruptive cutaneous collagenoma that provide more experience for clinician, and may be helpful for them to make correct diagnosis for suspicious cases.

简介：2CasesofMediterraneanspottedfeverinFrancewerereportedinthispaper.Bothhadtraveledintheendemicareasbeforeonset.Theirclinicalmanifestationsincludedfever,headache,myalgia,eruptionandblackeschar.SerologictestssuchasWeil-Felixreaction,Indirectimmunoflurescenceandcomplementfixationconfirmedthediagnosis.Thepatientsrecoveredwithoutcomplicationsandweredischargedfromhospitalaftereffectivetreatment.Simultaneously,theepidemiology,clinicaldiagnosis,treatmentandpreventionofthediseasewerereviewedandthepossibilityofthediseasebeingintroducedintothisterritorywasdiscussed.Theauthorheldthatattentionshouldbepaidtotheprophylaxisandtreatmentofthediseaseintheinternationaltravelhealthcare.

简介：针刺膝关节周围的4个穴位,犊鼻、内膝眼、梁丘和血海,得气后接电针,并用TDP照射膝关节,治疗了78例膝关节骨性关节炎患者.治疗2个疗程后,临床治愈26例,显效18例,好转31例,无效3例,总有效率96.2%.

简介：51例更年期综合征患者随机分为3组，针罐组21例、针利组10例，耳针组20例，分别以针刺结合拔罐，针剌、耳针治疗。总有效率分别为80.9%．20.0%．20．0%和80．0‰。针剌结合拔罐治疗更年期综合征疗效优于单纯针利式耳针治疗(P<0．05)。

简介：Treated58patients(32malesand26females)withpostoperativeuroschesisbyacupuncture.Therapeuticresultswereexcellentin33cases,goodin22cases,andineffectivein3cases.

简介：130例单纯性肥胖症患者经针刺和耳穴贴压治疗，经1个疗程治疗后，显效49例，有效73例，无效8例，总有效率为93．8％。尤其以重度肥胖症的减肥效果最佳。

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简介：Wehavetreated28casesofpolyneuritiswithelectroacupunctureandreportedasfollows.

简介：Traction,acupunctureandoxygeninhalationtherapieswere-usedtotreat40casesofcervicalvertigo.AcupointsFengchi(GB20),Tianzhu(BL10),Baihui(GV20),Yintang(Ex-HN3),Houxi(SI3),andZhongzhu(TE3),andtheeffectiveratewas97.5%.