海南省新生儿G6PD缺乏症筛查十年回顾分析

目的寻找海南省人群葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病情况和基因突变特点。方法对海南省2007至2016年出生的914520名新生儿的干血斑使用荧光斑点法进行G6PD活性筛查。初筛可疑标本召回使用G6PD/6-磷酸葡萄糖脱氢酶(6GPD)比值法进行确诊,对2016年确诊为G6PD缺乏的患儿的3012份干血斑使用多色探针荧光PCR熔解曲线法进行基因分型。结果海南省10年间在914520例新生儿中初筛阳性36314例,确诊了26370例G6PD缺乏,发病率为2.88%(26370/914520)。以民族划分,汉族人群G6PD发病率2.80%(21688/774555)。黎族人群发病率3.45%(4292/124419),黎族和汉族发病率比较,差异具有统计学意义(χ^2=161.261,P=0.000)。苗族人群发病率3.31%(212/6401),苗族和汉族发病率相比较差异具有统计学意义(χ^2=6.104,P=0.013)。其他民族人群发病率为1.95%(178/9145),与汉族发病率相比较差异具有统计学意义(χ^2=24.283,P=0.000)。在3012例G6PD确诊病例中共检出13种基因突变,其中c.1376 G>T、c.1388 G>A、c.95 A>G和c.1024 C>T突变合并约占91.74%。其中经基因测序发现16种基因型以外的2种突变,即c.86C>T和c.1311C>T。结论海南省新生儿人群G6PD发病率高,G6PD发病有民族和地域差异。海南省人群基因突变主要以c.1376G>T、c.1388G>A、c.95 A>G和c.1024 C>T为主。     

Vitamin D supplementation and pain-related emergency department visits in children with sickle cell disease

ObjectivesSickle cell disease (SCD) is the most prevalent inherited hematological disorder and affects 100,000 individuals in the United States. Pain is the most common cause of emergency department (ED) visits in the SCD population, which profoundly affects quality of life. Vitamin D supplementation is a potential target for reducing pain. Thus, the goal of the present study was to identify the prevalence of vitamin D deficiency and explore the relationship between vitamin D supplementation and ED visits in pediatric patients with SCD.DesignWe conducted a retrospective chart review of 110 patients with SCD aged 8–16 years who had at least one ED visit for SCD pain during the 6-year study period. Patients were categorized into three vitamin D supplementation groups: patients who did not receive supplementation, patients supplemented with 25-hydroxyvitamin D levels (< 30 ng/mL), and patients supplemented with at least one sufficient 25-hydroxyvitamin D level (≥ 30 ng/mL).ResultsOverall, 45 % of patients were vitamin D deficient. Only 20 % of patients had sufficient vitamin D levels. This number increased to 55 % when examining only patients who did not receive vitamin D supplementation. For patients supplemented with vitamin D, the number of ED visits was significantly lower after they reached the sufficient range (≥ 30 ng/mL), p = 0.03.ConclusionsOur findings indicate that reductions in the number of pain-related ED visits may be achieved by normalizing 25-hydroxyvitamin D levels with supplementation. In addition, findings highlight the need for screening and vitamin D supplementation being incorporated into routine care for pediatric patients with SCD.     

从“宣、化、利”法浅析张怡治疗湿病经验

湿性重浊、粘滞,易伤脾阳及阻滞气机,易夹杂它邪为患,所致疾病缠绵难愈,在内、外、妇、儿中均可见其存在。加上川渝地区独特的地形、气候及饮食因素,张怡认为脾胃系统疾病中感染湿邪患者十之八九,治疗湿病多以三焦辨证为纲,通过“轻宣上焦、运化中焦、淡利下焦”畅通三焦给邪气以出路及顾护脾胃减少湿邪产生,标本结合,在临床中取得了良好的疗效。该文选取张怡教授其中一则医案和同道分享,浅析张怡治疗湿病的辨证思路及组方特色。张怡治疗湿病经验丰富,临床效果好,值得推广及借鉴。     

穴位贴敷联合八段锦功法对阳虚体质患者的护理效果

目的探讨穴位贴敷联合八段锦功法对阳虚体质患者的护理效果。方法选取2018年6月至2019年8月在我院门诊治疗的阳虚体质患者84例为研究对象,随机将其等分为对照组和观察组,对照组给予常规护理,观察组在对照组基础上给予穴位贴敷联合八段锦功法的护理方法。比较两组综合疗效、阳虚质积分和出现阳虚症状的情况。结果观察组总有效率高于对照组,阳虚质积分低于对照组,观察组阳虚症状出现例次明显少于对照组,差异有统计学意义(P<0.05)。结论穴位贴敷联合八段锦功法能有效改善阳虚质,提高阳虚患者的生活质量,值得推广应用。     

中西医结合治疗气虚血瘀型缺血性脑卒中的临床效果

目的研究气虚血瘀型缺血性脑卒中应用中西医结合治疗的临床效果。方法选取我院收治的气虚血瘀型缺血性脑卒中患者68例,采用随机数字表法将其分为对照组和观察组,每组34例。对照组给予西药治疗,观察组给予中西医结合治疗。比较两组治疗效果。结果治疗后,两组ET、ACTH、CORT、TXB2、PGI2、IL-6、TNF-α、hs-CRP及MMP-9水平均显著下降,且观察组低于对照组(P<0.05)。治疗后,两组NIHSS评分显著下降,SIS各项评分均显著升高,观察组显著优于对照组(P<0.05)。结论中西医结合治疗气虚血瘀型缺血性脑卒中可有效改善患者激素水平和血清炎性因子水平,同时能降低患者神经功能缺损程度,提高患者生活质量。     

Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

BACKGROUND Cholesteryl ester storage disease(CESD)is a rare genetic disease.Its symptoms and severity are highly variable.CESD is a systemic disease that can lead to the accumulation of fat and inflammation in the liver,as well as gastrointestinal and cardiovascular disease.The majority of patients require liver transplantation due to decompensated cirrhosis.Enzyme replacement therapy has been approved based on a randomized trial.Our study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation,as well as their first-degree family members.CASE SUMMARY The siblings were compound heterozygous for the missense variant in LIPA exon 8,c.894G>A,(p.Gln298Gln)and a single base pair deletion,c.482del(p.Asn161Ilefs*19).Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both patients.Clinically,both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of CESD.Three family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference value.One of these carriers,a seven-year-old boy,was found to have severe dyslipidemia and was subsequently treated with statins.CONCLUSION Our study underlines that CESD is a multi-organ disease,the progression of which may occur post-liver transplantation.Our findings underline the need for monitoring of complications and assessment of possible further treatment.     

Awareness during emergence from anesthesia: Features and future research directions

The anesthesia awareness with recall(AAWR) phenomenon represents a complication of general anesthesia consisting of memorization of intraoperative events reported by the patient immediately after the end of surgery or at a variable distance from it. Approximately 20% of AAWR cases occur during emergence from anesthesia. Clinically, these unexpected experiences are often associated with distress especially due to a sense of paralysis. Indeed, although AAWR at the emergence has multiple causes, in the majority of cases the complication develops when the anesthesia plan is too early lightened at the end of anesthesia and there is a lack of use, or misuse, of neuromuscular monitoring with improper management of the neuromuscular block. Because the distress caused by the sense of paralysis represents an important predictor for the development of severe psychological complications, the knowledge of the phenomenon, and the possible strategies for its prophylaxis are aspects of considerable importance. Nevertheless, a limited percentage of episodes of AAWR cannot be prevented. This paradox holds also during the emergence phase of anesthesia which represents a very complex neurophysiological process with many aspects yet to be clarified.