简介:AIM:Tostudyclinicalfeaturesandgenemutationswithinthepaired-likehomeodomaintranscriptionfactor2(PITX2)geneinapedigreeofbilaterallimbaldermoids.METHODS:Completeeyeexaminationshavebeenperformedoneachindividualofthefamily.Exonsofpaired-likehomeodomaintranscriptionfactor2(PITX2)wereamplifiedbypolymerasechainreaction,sequenced,andcomparedwithareferencedatabase.RESULTS:Wedescribedthephenotype,clinicfindingsinafamilywithtwoaffectedmembers.Themassesoftheproband’seyeswereexcisedsurgicallydemonstratingadermoidcystbyhistopathologicalexamination.NomutationwasdetectedinthegenePITX2inthispedigree.CONCLUSION:Afamilyoflimbaldermoidcystwasreported.Inaddition,nopathogenicsequencevariationswerefoundinPITX2,indicatingthatthisphenotypeinthisfamilyisadistinctiveentity.
简介:目的:了解基层医院抗感染药物应用现状.方法:通过分析2004年度本院抗感染药物应用,按基核分类进行金额统计和排序,并分析了临床治疗合理用药及价格优势.结果:用药金额所占比例β-内酰胺类药物为49.25%、头孢菌素类占18.89%、氨基糖苷类占7.89%、大环内酯类占7.66%、喹诺酮占4.62%、抗厌氧菌类占4.23%、抗结核类占3.67%、抗病毒类占1.97%、抗真菌类占0.83%、磺胺类占0.47%、驱肠虫类占0.32%、四环素类占0.09%、硝基呋喃类占0.07%.结论:基层医院抗生素的应用与其他市级医院有区别,抗感染药老药新用可望减轻农民负担且疗效有所提高.