我院药物代谢酶和药物作用靶点基因检测与精准药学服务实践与总结

目的回顾我院药物代谢酶和药物作用靶点相关基因检测与精准药学服务实践过程,总结经验,与同行分享。方法从准备工作、相关检测项目的确定,学术推广、项目优化和开展情况等方面详细阐述我院基因检测开展过程与精准药学服务情况。结果根据临床需求,我院已开展了以心脑血管药和抗精神病药为主的27种药物,26项检测,2018年全年位1587名患者提供个体化用药建议,受到临床医生和患者欢迎。结论基于代谢酶和药物作用靶点相关基因检测的个体化用药建议是临床药师参与精准治疗的重要途径,有助于医生和药师之间的沟通,有利于提高药学服务水平。     

8-羟基脱氧鸟苷在产科中的应用现状

8-羟基脱氧鸟苷(8-OHd G)作为DNA氧化损伤的生物标志物,在多种疾病的发生、发展及预后中扮演着重要角色,可能为疾病的预测、早期诊断及病情监测提供依据,在临床中发挥重要作用,但其在产科领域研究尚在探索阶段。本文通过对8-OHd G既往研究进行总结,分析其产科应用现状,为进一步研究提供理论支持。     

1例Costello综合征的临床表现

Objective: To observe the clinical characteristics of Costello syndrome. Methods：the clinical characteristics and gene mutation types of one child with Costello syndrome were analyzed. The key words of Costello syndrome, Costello syndrome and HRAS were searched and analyzed. Results: all the children showed some special facial features, growth retardation and heterozygous mutation of HRAS gene. After diagnosis, all patients were treated with growth hormone and medical treatment. It was found that the clinical characteristics of Costello syndrome reported at home and abroad were similar to the child in our case. The main clinical manifestations of Costello syndrome were special features, heart system disease, short stature and mental retardation, with tumor susceptibility. Conclusion: the incidence rate of Costello syndrome is extremely low, involving multiple system diseases. Special signs and HRAS gene sequencing are helpful for the diagnosis of the disease.     

Costello综合征1例报告

1 病例资料 患儿女,8岁.因"自幼双眼睫毛过长"来我院眼科就诊.眼部检查:患儿双眼角膜明,瞳孔等大、等圆,晶状体透明,视网膜正常;眼压正常;角膜映光:正位;交替遮盖:不动;未发现眼球震颤;双眼眼球运动良好.双眼视力均为0.8,双眼睫毛长且乱生(图1A).出生及疾病史:第2胎,足月顺产,出生顺利;否认吸氧史,否认心脑血管疾病史.家族史:无特殊,父母非近亲结婚,有 1 位13岁胞姐,父母及胞姐均身体健康.体格检查:患儿身高125 cm,体重40 kg;头围 52 cm,头发稀疏、卷发 (图1B);高前额,眼距宽,低耳位,鼻梁塌,唇厚嘴 大;全身皮肤粗糙(图1C),掌跖部皮纹深大.     

两性霉素B治疗真菌感染的疗效及不良反应评价

目的：回顾性评价两性霉素B治疗真菌感染的疗效及药物不良反应（ADR）。方法：收集2011年1月～2014年6月我院应用两性霉素B治疗真菌感染的病例,以痊愈、显效、进步、无效4种评价标准对其疗效进行评价,并对不良反应进行分析研究。结果：共纳入患者131例,痊愈24例,显效77例,好转9例,无效21例,总体有效率为77.10%;110例患者出现不同程度的不良反应,其中6例（4.58%）因反应严重需要更换用药,其余患者对症处理后不影响治疗。结论：两性霉素B治疗真菌感染的疗效显著,药物不良反应在可控制范围内。     

细胞色素P4502C19基因多态性对雷贝拉唑的药效学影响

目的：研究中国汉族人细胞色素P450（CYP）2C19的基因多态性及其对雷贝拉唑药效学的影响。方法：测定23例口服雷贝拉唑肠溶片10mg/d,2～4周的活动性十二指肠溃疡患者CYP2C19基因的代谢表型,将其分为纯合子强代谢型（homEM）、杂合子强代谢型（hetEM）和弱代谢型（PM）,通过胃镜检查结果判断治疗效果,建立两者的相关性。结果：将CYP2C19基因的homEM型、hetEM型和PM型3种表现型患者用药后2周及4周的总有效率分别进行比较,结果差异均无统计学意义（P＞0.05）。结论：在中国汉族人中,CYP2C19基因多态性对雷贝拉唑治疗十二指肠溃疡的疗效无显著影响。     

EV71型手足口病合并脑炎患儿母亲照顾体验的质性研究

目的 :了解EV71型手足口病合并脑炎患儿母亲在照顾患儿期间内心深处的感受,为临床护理提供依据。方法 :采用质性研究中的现象学研究法,深度访谈并收集18名患儿母亲的资料。结果 :运用Co1aizzi法通过阅读、分析、反思、分类和提炼,得出3个主题:过重的心理负荷,沉重的经济负担,渴望疾病相关的知识。结论 :深入了解EV71型手足口病合并脑炎患儿母亲的真实照顾体验,有利于护理人员对其提供专业照护知识指导及心理疏导,促进其身心健康和患儿康复。     

预防性人乳头瘤病毒疫苗的应用进展

宫颈癌是导致全球妇女病死率排名第2位的肿瘤,高危型人乳头瘤病毒（HPV）持续感染与妇女宫颈癌密切相关,预防性HPV疫苗是预防宫颈癌的有效方法,并逐步开展应用.此文对HPV疫苗的作用机制和临床应用的安全性及有效性等进行综述.     

老年2型糖尿病患者胰高血糖素对血糖、血压变化的反应

The response of glueagon to the change of glucose and its relation to blood pressure in 71 eidely patients with type 2 diabetes was investigated. The results showed that the postprandial increment of glucagon in the group of patients with postprandial 2h plasma glucose increment<2.5 mmol/L was significantly higher than that in the group with plasma glucose inerement≥ 2.5 mmoi/L (P<0. 05). The postprandial increment of glucagon in patients with normal blood pressure was significantly higher than that in patients with hypertension (P<0.05). The results suggest that the decreased response of glucagon to the change in plasma glucose in elderly patients with type 2 diabetes is related to increased blood glucose and high blood pressure.     

老年2型糖尿病患者胰高血糖素对血糖、血压变化的反应

The response of glueagon to the change of glucose and its relation to blood pressure in 71 eidely patients with type 2 diabetes was investigated. The results showed that the postprandial increment of glucagon in the group of patients with postprandial 2h plasma glucose increment<2.5 mmol/L was significantly higher than that in the group with plasma glucose inerement≥ 2.5 mmoi/L (P<0. 05). The postprandial increment of glucagon in patients with normal blood pressure was significantly higher than that in patients with hypertension (P<0.05). The results suggest that the decreased response of glucagon to the change in plasma glucose in elderly patients with type 2 diabetes is related to increased blood glucose and high blood pressure.