论著

精神科急救培训用护士作标准化病人的培养与使用

Training and application of nurses as standardized patients for psychiatric first aid

:89-92
 
目的 探讨精神科急救培训用护士作为标准化病人的培养方法。方法 2013年9月挑选了4名精神科护士参加标准化病人系统培训,考核合格后成为护士标准化病人在2013年10月—11月对30名新护士自缢、噎食急救培训和考核中使用。结果 对急救培训中使用护士标准化病人,30名新护士中认为“新颖,第一次接触”19人(63%)、“满意”的26人(87%);4名作为标准化病人的护士都认为“非常有意义”。结论 精神科急救培训应用护士标准化病人丰富了培训的形式和内涵,得到了绝大部分参与人员的肯定。
Objective To explore the methods of training nurses as standardized patients for psychiatric first aid. Methods 4 nurses were selected to participate in the psychiatric standardized patient training program and all passed the examination. Using these nurse standardized patients to train the 30 new nurses for psychiatric first aid. Results After the first aid training, 19 of the 30 new nurses(63%) felt that it was “novelty and interesting”. 26 nurses(87%) felt “being satisfied”. And those 4 standardized patients felt “very meaningful”. Conclusion Training and application of nurses as standardized patients for psychiatric first aid may enrich the form and content of training program, and gains most of the participants affirmation.
论著

小骨窗显微手术不同手术时机对高血压脑出血患者疗效及神经功能的影响

Curative effects of microsurgical treatment with small bone flap craniotomy on patients with hypertensive cerebral hemorrhage and on their nerve function in different timing of surgery

:46-48
 
目的 探讨小骨窗显微手术不同手术时机对高血压脑出血患者疗效及神经功能的影响。方法 选取我院2014年5月—2016年5月收治的80例高血压脑出血患者作为研究对象,脑出血量约30~40 mL,根据出血到手术时间不同分为两组,每组40例。从出血到手术时间<6 h者为超早期作为观察组,出血到手术时间处于6~24 h间者为早期作为对照组,比较两组患者治疗后1个月GOS(格拉斯哥预后)优良率,治疗后3周、6周的斯堪的纳维亚(SSS)评分,治疗后3个月、6个月的生存质量评分及治疗后的生存情况、再出血情况。结果 观察组治疗后1个月GOS优良率为77.50%,相对于对照组明显上升(P<0.05);观察组治疗后3周、6周的SSS评分较对照组明显降低(P<0.01);观察组治疗后3个月、6个月的生存质量评分较对照组明显升高(P<0.01);两组治疗后的生存率差异有统计学意义(P<0.05),再出血率差异无统计学意义(P>0.05)。结论 对高血压脑出血患者在超早期行小骨窗显微手术可提高疗效,明显改善患者神经功能,提高生活质量及生存率,值得临床推广。
Objective To investigate the curative effects of microsurgical treatment with small bone flap craniotomy in patients with hypertensive cerebral hemorrhage and on their nerve function in different timing of surgery. Methods To select 80 cases of hypertensive cerebral hemorrhage in our hospital from May 2014 to May 2016 as the research object. The amount of cerebral hemorrhage of the patients was about 30-40 mL. According to the different time of bleeding, they were divided into two groups, 40 cases in each group. The super early period that the time from bleeding to operation was less than 6 h was regarded as the observation group, and the early period that the time from bleeding to operation is during 6~24 h was regarded as the control group. To compare the GOS (Glasgow outcome) excellent rate of patients in two groups in 1 month after treatment, the Scandinavia (SSS) score in 3 weeks and 6 weeks after treatment, and the quality of life score and survival and re-bleeding condition after treatment in 3 months and 6 months. Results Compared with the control group, the GOS excellent rate in the observation group in 1 month after treatment was 77.50% which increased significantly (P<0.05); the SSS score in the observation group in 3 weeks and 6 weeks after treatment was significantly lower than that in the control group (P<0.01); The quality of life score in the observation group in 3 months and 6 months after treatment was significantly higher than that in the control group (P<0.01); There was statistically significant difference in survival rate between the two groups after treatment (P<0.05), and the re-bleeding rate showed no significant difference (P>0.05). Conclusion The curative effects of microsurgical treatment with small bone flap craniotomy on patients with hypertensive cerebral hemorrhage is significant, which can improve the patients' neurological function, the life quality and survival rate, thus it is worthy of clinical promotion.
论著

宫腔积血对于中晚期孕妇妊娠结局的影响以及影响因素

The pregnancy outcomes of intrauterine hematomas in second and third trimester and risk factors

:43-45
 
目的 探讨宫腔积血对于中晚期妊娠结局的影响以及影响的因素。方法 结合477例中晚期宫腔积血孕妇的临床资料分析,根据妊娠结局分为正常妊娠结局组(NP)及不良妊娠结局组(AP)。结果 AP的平均孕周(23.22±6.87周)明显大于NP(16.11±4.76周),两组有明显差异性(P<0.001)。两组首次B超宫腔积血平均体积分别为8.01(2.22~28.67)(NP),13.05(3.54~26.34)mL(AP)(P=0.001),但相邻第二次测量结果两组相差不大(P=0.230)。AP组中胎盘下血肿的比率(53.4%)明显大于NP组(24.2%),而绒毛膜下血肿比率(44.0%)明显小于NP(73.8%),两组有明显差异性(P<0.001)。宫缩也是影响因素之一,在AP组可扪及宫缩的病例(88例55.3%)明显高于NP(38例11.9%),两组有明显差异性(P<0.001)。但在阴道流血率方面两组没有明显差异(P=0.407)。结论 妊娠中晚期宫腔积血可能会导致不良妊娠结局,而首次出现的孕周,急性大量宫腔出血、宫腔积血位置以及是否伴有宫缩都是影响妊娠结局的重要因素。
Objective To study the poor pregnancy outcomes of patients with intrauterine hematoma in the second and third trimesters, and discuss the risk factors. Methods We analyzed the clinical data of 477 patients who underwent routine examination in our hospital from January 2010 to June 2016 and classified them into normal pregnancy (NP) group and adverse pregnancy (AP) group according to their pregnancy outcomes. Results Gestational age at first detection of hematoma of AP group(23.22±6.87 weeks) was more than NP group (16.11±4.76 weeks)(P<0.001). The volumes of hematoma during the first detection were significantly different between the two groups (P=0.001).The average hematoma volume were 8.01(2.22-28.67)(NP),13.05(3.54-26.34)mL(AP)respectively. However, the hematoma volumes recorded in the second B-ultrasound examination were not significantly different between the two groups (P=0.230). In the AP group, the incidence of retroplacental hematoma (53.4%) was significantly higher than in the NP group (24.2%), while the incidence of subchorionic hematoma (44.0%) was significantly lower than in the NP group (73.8%)(P<0.001). The incidence of palpable contractions in the AP group (62.8%) was significantly higher than in the NP group (12.1%), P<0.001. However, the incidence of vaginal bleeding was similar (P=0.407). Conclusion Intrauterine hematoma in the second and third trimester may lead to adverse pregnancy outcomes. Risk factors for poor pregnancy outcomes are included gestational age at first diagnosis, acute and large intrauterine bleeding, location of hematoma and accompanying contraction.
论著

不同剂量麝香复方液静滴对老年人全麻术后早期轻度认知障碍发生的比较

Comparison of different doses of musk compound solution in the early stage of mild cognitive impairment in elderly patients after general anesthesia

:34-38
 
目的 观察手术前静滴不同剂量复方麝香注射液对老年患者全麻术后早期轻度认知障碍(MCI)发生的影响。方法 选择下肢与下腹部手术全麻患者120例(ASA Ⅰ-Ⅱ级),将其随机分为4组,组Ⅰ(n=30,对照),采用质量浓度为9 g/L的生理盐水100 mL静脉滴注;组II(n=30):应用低剂量复方麝香注射液(0.1 mL/kg,加入质量浓度为9 g/L的生理盐水100 mL)手术开始前0.5 h静脉滴注,其速率为200 mL/h;组Ⅲ(n=30): 应用中剂量复方麝香注射液(0.2 mL/kg), 药物配伍、治疗时间和注射速度与组Ⅱ相同;组Ⅳ(n=30):高剂量复方麝香注射液(0.3 mL/kg),用药方法同组Ⅱ。各组术前用药、麻醉诱导、术中麻醉深度、麻醉苏醒等用药与方法相同;观察各组患者术前、术后第1天、3天、7天的CCSE、FAQ、MMSE评分等。结果 4组患者手术时间、麻醉时间、术中出血量、苏醒时间基本相同(P>0.05),4组手术后第1天、3天及7天CCSE、FAQ、MMSE认知功能评分均减少, 组Ⅱ、组Ⅲ、组Ⅳ下降的变化幅度较小,得分高于组Ⅰ(P<0.05),组Ⅱ、组Ⅲ、组Ⅳ组间比较差异无统计学意义(P﹥0.05);术后第1天、3天、7天MCI发生率,组Ⅰ分别为66.7%、33.3%和16.7%;组Ⅱ为50.0%、16.7%和6.7%;组Ⅲ为50.0%、16.7%和6.7%。组Ⅳ为46.7%、20.0%和10.0%,用药组比组Ⅰ降低(P<0.05),但组Ⅱ、组Ⅲ、组Ⅳ之间无明显差异(P﹥0.05);4组术后不良反应组间比较差异无统计学意义。结论 术前静脉滴注复方麝香注射液0.1 mL/kg可有效降低老年患者全麻术后MCI的发生,增加麝香注射液剂量(0.2 mL/kg、0.3 mL/kg)对于老年手术患者MCI未见增效作用,临床选用静滴的剂量0.1 mL/kg即可。
Objective To observe the effect of different doses of compound musk injection before operation on early mild cognitive impairment (MCI) in elderly patients after general anesthesia. Methods We selected 120 cases of lower limb and lower abdominal surgery general anesthesia (ASA level Ⅰ-Ⅱ),and divided them randomly into 4 groups: Group Ⅰ (n=30,control): 0.9% saline 100mL intravenous infusion; Group Ⅱ (n=30): low dose compound musk injection (0.1 mL/kg,add 0.9% saline 100 mL), 0.5h before the start of surgery, intravenous drip, the rate was 200 mL/h; Group Ⅲ (n=30): medium dose compound musk injection (0.2 mL/kg), the same as group Ⅱ in drug compatibility,treatment time and injection rate; Group Ⅳ (n=30): high dose compound musk injection (0.3 mL/kg), the same as group Ⅱ in drug compatibility, treatment time and injection rate. Each premedication, induction of anesthesia, anesthesia depth,intraoperative awake and anesthesia medication were the same. And we observed each group about preoperative and postoperative CCSE,FAQ and MMSE(mini-mental state examination) score of the 1st days,3rd days and 7th days. Results In the 4 groups of patients,the operation time,anesthesia time,intraoperative blood loss,recovery time were basically the same (P>0.05); CCSE,FAQ,MMSE cognitive function scores of 4 groups were reduced after operation on the first day,the third day and the seventh day; group Ⅱ,group Ⅲ,group Ⅳ decreased slightly.The scores were higher than group Ⅰ (P<0.05),and there were no significant differences between group Ⅱ,group Ⅲ and group Ⅳ (P>0.05); The incidence of MCI in first days, third day and seventh day after operation respectively was: group Ⅰ 66.7%,33.3% and 16.7%; group Ⅱ 50%,16.7% and 6.7%; group Ⅲ 50%,16.7% and 6.7%; group Ⅳ 46.7%,20% and 10%.Those of the drug groups were lower than group Ⅰ (P<0.05), but there was no significant difference between group Ⅱ, group Ⅲ and group Ⅳ (P>0.05).There were no significant differences in the 4 groups in postoperative adverse reactions. Conclusion Preoperative intravenous infusion of compound musk injection 0.1 ml/kg, may effectively reduce the incidence of MCI in elderly patients after general anesthesia. Increasing musk injection dose (0.2 ml/kg,0.3 ml/kg and 0.4 mg/kg) was no synergistic effect on MCI in elderly patients,0.1ml/kg is enough.
临床诊疗

多层螺旋三维CT重建引导下的改良Evans分型对老年脆骨性粗隆间骨折微创治疗的临床指导

Improved Evans parting under multi-slice spiral CT three-dimensional reconstruction in mini-invasive surgical treatment of elderly cartilage intertrochanteric fractures

:116-119
 
目的 利用新的分型方法指导现有的微创技术下内固定的选择,提示预后,帮助制定术后康复计划。方法 将200例患者随机分成两组,一组为旧Evans分型组,另一组为改良Evans分型组,通过多层螺旋三维CT重建引导下改良Evans分型,对三个重点区域(股骨内距、头颈部及粗隆外侧入针点部位)的CT成像,利用多平面重组(MPR)、表面遮盖显示(SSD)及容积再现(VR)等多种后处理,分析骨折线走形、局部的微骨折、骨小梁分布、骨皮质厚度的骨折部内环境变化。简化整合到Evans分型中。来实现完善影像分型,有效地指导微创手术。对比两组患者的疗效。结果 新Evans分型组98例患者愈合良好,时间为9~17周,中位数为11.2周。其中伤口感染3例,髋关节内翻畸形3例,骨骨头坏死3例,按照髋关节治疗标准评分,优53例,良31例,可9例,差7例。优良率(包括优和良)为84%。旧Evans分型组80例患者愈合良好,时间为9~18周,中位数为11.8周。其中伤口感染10例,髋关节内翻畸形5例,股骨头坏死8例,按照髋关节治疗标准评分,优48例,良26例,可10例,差16例。优良率(包括优和良)为74%。两组对比,新Evans分型组优良率明显高于旧Evans分型组,差异有统计学意义。P<0.05。结论 多层螺旋三维CT重建引导下的改良Evans分型对老年脆骨性粗隆间骨折的微创治疗有重要的临床指导意义。
论著

广州市3 841位离退休干部健康体检的调查分析及思考

Analysis on the physical examination among 3 841 retired cadres in Guangzhou

:77-81
 
目的 分析广州市离退休干部的体检结果,为疾病的预防和治疗提供依据。方法 以2015年在我院进行体检的离退休干部为对象,对其中有相同体检内容的3 841位的结果进行分析,探讨该人群中阳性体征检出率最高的前15种疾病,以及这些疾病在不同性别人群中的差异,并与2014年检出结果进行对比。结果 总体人群前15种阳性体征检出率疾病中,大部分疾病的检出率在不同性别人群有统计学差异。老年性白内障(总人群检出率67.56%)、高血压病(46.6%)、结节性甲状腺肿(44.18%)位居前三位;与2014年的检测结果相比,老年性白内障、高尿酸血症、胆囊结石这三种疾病的检出率有所下降,而结节性甲状腺肿、痔疮、慢性咽炎、高脂血症、胆囊炎这五种疾病的检出率有所上升(差异均有统计学意义,P<0.05)。结论 离退休人员性别差异罹患各种疾病的几率不同,男性更易罹患老年性白内障、高尿酸血症、牙周炎、牙龈炎、脂肪肝、糖尿病、胆囊炎。女性更易罹患结节性甲状腺肿、痔疮、慢性咽炎、高脂血症。定期健康体检后的进一步健康管理还相当薄弱,健康干预日益迫切需要。
Objective We analyzed the physical examination results of retired cadres,to acquaint the health status of the targeted population and provide the basis for the disease prevention and treatment. Methods Among the retired cadres who conducted healthy examination in the successive two years of 2014 and 2015, we selected 3841 cases of which examination items were the same in these two years. Based on their healthy examination results, we investigated the diseases of which detected rates of positive sign ranked in top 15, including the different appearances between different genders, and made comparisons with that of year 2014. Results Out of the top 15 diseases, senile cataract, hypertension and nodular goiter ranked in top 3. Compared with that of year 2014, a decrease of the detection rate could be seen in three diseases namely senile cataract, hyperuricemia and cholecystolithiasis, but an increase in five diseases namely nodular goiter, hemorrhoids, chronic pharyngitis, hyperlipidemia and cholecystitis. Conclusion Regular examination is an important way to acquaint the health status of retired cadres, and find pathogenesis risk factors timely. The healthy management however is still weak after physical examination.Thus it can be seen that healthy intervention has become increasingly urgent.
论著

一次性包皮切割缝合器与两种传统包皮环切术的应用比较

Comparision of the effects of circumcision between using a novel disposable suture device and traditional or plastibell procedure

:73-76
 
目的 比较一次性包皮切割缝合器与传统包皮环切术和套扎环包皮环切术的临床应用效果。方法 对我院2016年7月—2016年12月内门诊收治的包皮过长和包茎患者,采用不同手术方法治疗,其手术时间、术中疼痛评分(VAS评分)、术后水肿、疼痛持续时间、以及外观满意度等方面进行对比。结果 在手术时间和外观满意度方面一次性包皮切割缝合器明显优于传统包皮环切术;在术中疼痛评分(VAS评分)、疼痛持续时间和术后水肿方面一次性包皮切割缝合器明显优于套扎环包皮环切术。结论 一次性包皮切割缝合器与两种传统常规手术比较,手术更加简单、方便且安全,术后外观满意度高,值得临床推广。
Objective To compare the effects of circumcision between using a novel disposable suture device and traditional or plastibell procedure. Methods The patients from July 2016 to December 2016 that underwent different ways of circumcision were documented. The operation time, VAS score, postoperative edema, the duration of the pain and appearance of satisfaction were collected and analyzed. Results The suture device group had shorter operation time, better appearance of satisfaction than that of traditional group (P<0.05). Besides, the suture device group had lesser VAS score, shorter duration of the pain and less postoperative edema (P<0.05). Conclusion Compared to traditional or plastibell procedure, a novel disposable suture device circumcision represents convenient, efficient and minimal invasive. It is worth promoting clinically.
论著

长期吸烟史对高危脑卒中患者口服阿司匹林二级预防效果的影响

Effect of long-term smoking on secondary prevention for oral aspirin in high-risk stroke patients

:60-63
 
目的 探讨长期吸烟史对高危脑卒中患者口服阿司匹林二级预防效果的影响。方法 将2012年8月—2014年8月医院口服阿司匹林二级预防的高危脑卒中患者115例作为研究对象,根据有无吸烟史分为无吸烟史组(34例)和吸烟史组(81例),其中36例吸烟时间≥20 a(长期吸烟史组)、45例吸烟时间1~19 a(短期吸烟史组)。随访12个月,测定血小板颗粒膜蛋白(GMP-140)、D-二聚体(D-D)、纤维蛋白原(FIB)、组织型纤溶酶原激活物(t-PA)、血小板膜糖蛋白CD61、CD62p,记录1年阿司匹林抵抗和临床终点事件发生率。结果 长期吸烟史组治疗前后GMP-140、D-D、FIB、CD61、CD62p高于短期吸烟史组和无吸烟史组,t-PA低于短期吸烟史组和无吸烟史组,且短期吸烟史组和无吸烟史组组间比较,差异有统计学意义(P<0.05);长期吸烟组阿司匹林抵抗发生率和临床终点事件发生率分别为33.33%、30.56%,高于无吸烟史组的8.82%、8.82%,差异有统计学意义(P<0.05),其余组组间比较差异无统计学意义(P>0.05)。结论 长期吸烟史会使脑卒中患者存在血栓前状态,增加阿司匹林抵抗和临床终点事件的发生几率。
Objective To explore effects of long-term smoking on secondary prevention for oral aspirin in high-risk stroke patients. Methods A total of 115 high-risk stroke patients who orally took aspirin for secondary prevention in our hospital from August 2012 to August 2014 were selected as the study subjects. According to smoking or not, they were divided into non smoking history group (34 cases) and smoking history group (81 cases). Among them, 36 cases whose smoking time was ≥ 20 years were included in the long-term smoking history group, and 45 cases whose smoking time was 1 to 19 years were included in the short-term smoking history group. The patients were followed up for 12 months. The platelet granule membrane protein (GMP-140), D-dimer (D-D), fibrinogen (FIB), tissue plasminogen activator (t-PA), platelet membrane glycoprotein CD61 and CD62p were determined. The incidence rates of 1-year aspirin resistance and clinical outcome events in the three groups were recorded. Results Before and after treatment, GMP-140, D-D, FIB, CD61 and CD62p in long-term smoking history group were higher than those in short-term smoking history group and non smoking history group while T-PA was lower, and there were significant differences between short-term smoking history group and non smoking history group (P<0.05). The incidence rates of aspirin resistance and clinical outcome events in long-term smoking history group (33.33%, 30.56%) were higher than those in non smoking history group (8.82%, 8.82%)(P<0.05), but there was no significant difference among other groups (P>0.05). Conclusion Long-term smoking history will cause prethrombotic state in stroke patients and increase the incidence rates of aspirin resistance and clinical outcome events.
论著

肠道病毒71型VP3结构蛋白的原核表达

Optimization of prokaryotic expression of enterovirus 71 VP3 capsid protein

:38-41
 
目的 利用大肠杆菌原核表达系统优化表达纯化肠道病毒71型(EV71)VP3结构蛋白,为后续单克隆抗体制备及检测试剂盒研发提供前期基础。方法 采用PCR方法扩增EV71病毒VP3基因,将其插入表达载体pET28a(+),构建pET28a-VP3重组质粒,转化大肠杆菌BL21(DE3)菌株,分别在25 ℃、37 ℃下经IPTG诱导表达,重组表达的蛋白产物经凝胶电泳初步分析,比较不同温度诱导表达的蛋白产物。结果 成功构建pET28a-VP3重组质粒,不同温度下诱导表达的蛋白产物在30.5 kDa左右位置均出现目的条带;37 ℃下诱导表达的蛋白超声破碎并离心后,目的蛋白基本位于沉淀中,而25 ℃诱导表达的蛋白产物有少量目的蛋白溶解于上清液中。结论 在25 ℃或37 ℃下均能利用大肠杆菌原核表达系统有效表达EV71病毒VP3蛋白;37 ℃诱导时蛋白可融性表达低,目的蛋白获取效率较高。
Objective To express VP3 capsid protein of enterovirus 71 by using Escherichia coli prokaryotic expression system. Methods VP3 gene was amplified by PCR before inserted into pET28a(+) plasmid. Then the plasmid pET28a-VP3 was transformed and expressed in the Escherichia coli BL21 strain at 25 ℃ or 37 ℃. Finally the protein was analyzed by SDS-PAGE gel electrophoresis. Results The pET28a-VP3 plasmid was successfully constructed, and the EV71 VP3 protein was expressed. Supernatant of the production after ultrasonication and centrifugation got a little VP3 protein. Conclusion The EV71 VP3 protein was expressed. Expression at 25 ℃ may lead to the dissolution of the recombinant protein.
论著

原发性肉碱缺乏症2例报道及其家系的SLC22A5基因突变检测

A report of primary carnitine deficiency in two patients and genetic testing in their family

:29-32
 
目的 探讨原发性肉碱缺乏症的诊断与治疗方案,对2例原发性肉碱缺乏症患儿及其家系行SLC22A5基因检测,确定基因突变位点,为家系提供遗传疾病的咨询。方法 用串联质谱技术对1例疑似患儿进行游离肉碱及多种酰基肉碱检测,对游离肉碱降低的患儿行SLC22A5基因突变检测,确诊PCD,对其姐姐行上述检查。对2例确诊PCD患儿补充左旋肉碱治疗,随访11个月。并对其家系行SLC22A5基因检测。结果 2例确诊PCD患儿,1例为临床患儿,另1例为其姐姐,无明显临床表现。2例患儿均检测到基因突变。2例患儿血游离肉碱水平低于参考值,伴多种酰基肉碱显著降低,均给予补充左旋肉碱治疗,1例治疗2月后症状改善,另1例未曾未发病,血游离肉碱及其他酰基肉碱水平上升至正常。2例患儿SLC22A5 c.760C>T,(p.Arg254X)纯合,致病突变;患儿父母亲SLC22A5基因的c.760C位点检测,发现:均携带c.760C>T,(p.Arg254X)杂合突变。结论 应用串联质谱技术检测血游离肉碱、多种酰基肉碱水平及SLA22A5基因突变检测诊断了2例PCD,均补充左旋肉碱取得较好疗效。SLC22A5基因c.760C>T,(p.Arg254X)突变是本家系中患有PCD的致病突变,用错义突变和剪切改变的分析手段对SLC22A5基因的外显子编码区进行直接测序可为PCD家系提供遗传咨询。
Objective To explore the diagnosis and treatment of primary carnitine deficiency. To identify potential mutation of SLC22A5 gene in two children affected with primary carnitine deficiency and provide genetic counseling. Methods We measured the free camitine(Co)and acylcamitine levels in a suspected clinical inherited metabolic diseases by tandem mass spectrometry. The SLC22A5 gene mutations were tested to the children with low Co level and the diagnosis was made. Then, We measured the free camitine(Co)and acylcamitine levels and SLC22A5 gene mutations in her sister. The children with PCD were treated with carnitine and followed up for 11 months. The SLC22A5 gene was detected in their family. Results In two children affected with PCD, 1 case was clinical children, another case of their sister was no obvious clinical manifestations. Mutations were found in all of them.The average C0 level in patients was lower than the reference value,along with decreased level of different acylcamitines. Two cases were treated with earnitine. Their clinical symptoms reduced 2 months later. Another case had not been sick. The CO level and different acylcamitines level in the blood rose to normal. A homozygous mutation C. 760C>T (P. Arg254X)of the SLC22A5 gene was detected in the two cases.Heterozygous mutation C. 760C>T (P.Arg254X) was also found in other family members. Conclusion Two patients were diagnosed with PCD by the test levels of free carnitine and acylcarnitines in blood with tandem mass spectrometry,and gene mutation test. L-carnitine supplement had a good effect in treatment of the PCD patients.C.760C> T (P.Arg254X) mutations of the SLC22A5 gene is the deleterious mutations for PCD families, The analysis method of the wrong mutagenesis and shear changes which is used to directly sequence the exons codes of the SLC22A5 gene can provide genetic counseling for PCD families.
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