简介：摘要葡萄糖-6-磷酸脱氢酶(G6PD)是磷酸戊糖途径的关键酶，参与体内多种代谢过程及氧化还原平衡。近年来研究发现，G6PD在多种肿瘤组织中活性升高，其可调控肿瘤细胞的增殖和凋亡、血管生成、远处转移及放化疗抵抗等，在肿瘤发生发展中起着重要作用，G6PD有望成为新兴的肿瘤治疗靶点。

简介：AbstractBackground:The elimination of Plasmodium vivax malaria requires 8-aminoquinolines, which are contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency due to the risk of acute haemolytic anaemia. Several point-of-care devices have been developed to detect G6PD deficiency. The objective of the present study was to evaluate the performance of two of these devices against G6PD genotypes in Mauritania.Methods:Outpatients were screened for G6PD deficiency using CareStart™ rapid diagnostic test (RDT) and CareStart™ G6PD biosensor in Nouakchott, Mauritania, in 2019-2020. African-type and Mediterranean-type G6PD genotypes commonly observed in Africa were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing. Qualitative variables were compared using Fisher’s exact test.Results:Of 323 patients (74 males and 249 females), 5 males and 2 homozygous females had the African-type A-genotype: A-(202) in 3 males and 2 females and G6PD A-(968) in 2 males. Among heterozygous females, 13 carried G6PD A-(202), 12 G6PD A-(968), and 3 G6PD A-(542) variants. None had the Mediterranean-type G6PD genotype. Eight had a positive G6PD RDT result, including all 7 hemizygous males and homozygous females with A- or A-A- (0.12 to 2.34 IU/g haemoglobin, according to G6PD biosensor), but RDT performed poorly (sensitivity, 11.1% at the cutoff level of < 30%) and yielded many false negative tests. Thirty-seven (50.0%) males and 141 (56.6%) females were anaemic. The adjusted median values of G6PD activity were 5.72 and 5.34 IU/g haemoglobin in non-anaemic males (n = 35) and non-anaemic males and females (n = 130) with normal G6PD genotypes using G6PD biosensor, respectively. Based on the adjusted median of 5.34 IU/g haemoglobin, the performance of G6PD biosensor against genotyping was as follows: at 30% cut-off, the sensitivity and specificity were 85.7% and 91.7%, respectively, and at 80% cut-off, the sensitivity was 100% while the specificity was 64.9%.Conclusions:Although this pilot study supports the utility of biosensor to screen for G6PD deficiency in patients, further investigation in parallel with spectrophotometry is required to promote and validate a more extensive use of this point-of-care device in areas where P. vivax is highly prevalent in Mauritania.

简介：摘要目的了解样本在4℃时不同的保存时间对葡萄糖-6-磷酸脱氢酶（G6PD）活性的影响。方法用G6PD/6PGD比值法测定30份全血标本放置各时间段的G6PD活性。结果枸橼酸钠抗凝全血标本在4℃温度下各时间段在24小时内测定G6PD活性无显著性差异（P＞0.05）。

简介：摘要目的探讨在本实验室的实验条件下，以速率法检测G6PD活性，初步得出本实验室G6PD缺乏患者的活性范围；探讨速率法检测G6PD活性的阳性率及其影响因素；探讨速率法与其他检测方法的相关性。方法采集自2011年1月至2011年11月本院门诊患者和住院患者标本共4625例,采用速率法测定G6PD活性,随机抽取640例标本采用美兰法及荧光斑点法做对照。结果（1）本实验室用速率法检测G6PD缺乏的活性范围为<600U/L；（2）速率法检测G6PD的阳性率为6.72%；（3）速率法检测G6PD活性的阳性率明显低于美兰法，其差别具有统计学意义（P<0.01）。结论(1)本实验室G6PD缺乏的活性范围略高于说明书的参考值；（2）速率法测定G-6-PD酶活性阳性率6.72%,但阳性结果一定要进行复查，以防假阳性；（3）速率法与美兰法检测G6PD，结果有明显差异。

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简介：摘要目的明确葡萄糖-6-磷酸脱氢酶（G6PD）缺陷症患者是否对戊型肝炎病毒更易感。方法对1998年3月至2010年2月在我科住院的412例戊型肝炎患者进行回顾性分析，计算G6PD缺陷患者所占比例，判断G6PD缺陷患者是否比G6PD正常者更易感染戊型肝炎病毒。结果在本研究中G6PD缺陷比例高达22.09%，远高于正常人群中G6PD缺陷率10.45%左右的比率（P<0.001）。G6PD缺陷患者对戊型肝炎病毒更易感。讨论G6PD缺陷患者对戊型肝炎病毒更易感，可能与其相对免疫力低下有关；但不能排除G6PD缺陷患者往往病情较重，有更高的就诊率有关。

简介：摘要目的了解宜州市新生儿G6PD缺乏情况。方法运用比值法对新生儿脐带血或末梢血进行检测。结果1640名新生儿中有108例G6PD缺乏，总发生率为6.59%，男婴检出率为8.23%,女婴检出率为4.26%，男性多于女性。结论新生儿早期进行G6PD筛查，对预防新生儿黄疸和溶血具有重要意义。

简介：摘要目的探讨分析孕妇及高胆红素血症新生儿葡萄糖-6-磷酸脱氢酶（G6PD检测结果以及相关的检测的意义。方法采用回顾分析的方法对自2010年11月至2012年11月所有在我院接受相关的孕妇及高胆红素血症新生儿G6PD检测的患者350例的检测资料以及临床记录数据进行分析，采用比值法对250例孕妇检测相应的产前血样以及孕妇分娩的高胆红素血症新生儿100例的血样分析，得出的结论。结果接受血样检测分析的250例孕妇及高胆红素血症新生儿100例G6PD检测的患者，检测出患有孕妇G6PD缺乏症的有25例（10%），检测出高胆红素血症新生儿G6PD缺乏症的有2例（2%）。G6PD缺乏症患者分娩出高胆红素血症新生G6PD缺乏症的有1例（1%）。结论不同地区相应的孕妇及高胆红素血症新生儿G6PD缺乏症的发病率不同，在我国主要以海南、广西、贵州和云南等地发病率较高。G6PD缺乏症能够导致新生儿发生溶血病，及时的对孕妇产前以及产后新生儿进行相关的血样检测，能够大大的减少新生儿产生溶血病等并发症，并提高孕妇及高胆红素血症新生儿G6PD缺乏症的治愈率。

简介：摘要目的探讨G6PD活性与地中海贫血的相关性。方法采用全自动生化仪对患者进行G6PD活性定量分析，用全自动血红蛋白分析系统进行地中海贫血筛查，并对异常结果患者标本进行基因分型确诊。结果在3626例研究对象中，有652例G6PD活性升高，而G6PD活性升高的患者血红蛋白电泳检测结果异常的几率明显提高，经基因分型确证，轻度α地中海贫血阳性检出率为25.92%，轻型β地中海贫血阳性检出率为34.97%，重型β地中海贫血阳性检出率为1.53%，地中海贫血总阳性检出率为62.42%，与G6PD活性正常组地中海贫血总阳性检出率比较，χ2=817.42，P=0.0008，差异具有统计学意义。结论G6PD活性越高，患地中海贫血的几率越大，认为对患者进行G6PD活性筛查，可有助于地中海贫血的临床诊断。

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简介：摘要目的分析荧光定量PCR基因检测对G6PD缺乏症诊断所发挥的诊断价值。方法选择我院在2016年5月~2017年8月进行G6PD缺乏症检测的100例血样进行检测，对常见的6个突变位点进行检测，以临床就检测金标准对荧光定量PCR基因检测所发挥的价值进行评价。结果荧光PCR法诊断G6PD缺乏症的灵敏度为98%，特异性为100%，阳性预测值为100%，阴性预测值为98%，诊断符合率为98%。结论荧光定量PCR基因检测在G6PD缺乏症诊断中发挥了积极的诊断价值，具有灵敏度高、特异性强、诊断符合率高等特点，杂合子检出率高，可以将荧光定量PCR基因检测作为G6PD缺乏症的首选诊断检查方式。

简介：[摘 要]  目的：探讨基因芯片核酸检测方法对G6PD缺乏症患者进行基因检测的诊断价值。方法：选取接收的100份血样(阴性标本和阳性标本各50份)，分别使用基因芯片核酸检测(观察组)和高铁血红蛋白还原法(对照组)对血样进行检 测，最终用Sanger测序法评判结果。结果：观察组的特异性、灵敏度、阴性预测值、阳性预测值、诊断符合率均显著高于对照组，差异具有统计学意义(P

简介：AbstractBackground:Loiasis is an uncommon and poorly understood parasitic disease outside endemic areas of Africa. The aim of this study was to describe the clinical and biological patterns and treatment of imported loiasis by sub-Saharan migrants diagnosed in Madrid, Spain.Methods:A retrospective study was conducted with sub-Saharan immigrants seen at the Tropical Medicine Unit of the Carlos III Hospital in Madrid, Spain, a reference center, over 19 years. Categorical variables were expressed as frequency counts and percentages. Continuous variables were expressed as the mean and standard deviation (SD) or median and interquartile range (IQR: Q3-Q1). Chi-square tests were used to assess the association between categorical variables. The measured outcomes were expressed as the odds ratio (OR) with a 95% confidential interval. Continuous variables were compared by Student's t-tests or Mann-Whitney U tests. Binary logistic regression models were used. P < 0.05 was considered a statistically significant difference.Results:One hundred thirty-one migrants from tropical and subtropical areas with loiasis were identified. Forty-nine patients were male (37.4%). The migrants' mean age (±SD) was 42.3 ± 17.3 years, and 124 (94.7%) were from Equatorial Guinea. The median time (IQR) between arrival in Spain and the first consultation was 2 (1-7) months. One hundred fifteen migrants had eosinophilia, and one hundred thirteen had hyper-IgE syndrome. Fifty-seven patients had pruritus (43.5%), and thirty patients had Calabar swelling (22.9%). Seventy-three patients had coinfections with other filarial nematodes (54.2%), and 58 migrants had only Loa loa infections (45.8%). One hundred two patients (77.9%) were treated; 45.1% (46/102) patients were treated with one drug, and 54.9% (56/102) patients were treated with combined therapy. Adverse reactions were described in 14 (10.7%) migrants.Conclusions:Our patients presented early clinical manifestations and few atypical features. Thus, physicians should systematically consider loiasis in migrants with a typical presentation. However, considering that 72.5% of the patients had only positive microfilaremia without any symptoms, we suggest searching for microfilaremia in every migrant from endemic countries for loiasis presenting with eosinophilia.

简介：摘要目的探讨遵义地区葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患儿致病基因突变类型及其主要临床特点。方法选取2018年9月13日至2020年9月13日遵义医科大学附属医院贵州省儿童医院接诊的临床表现为"黄染"或"疑似黄染"的患儿，采用多色探针熔解曲线分析方法进行G6PD基因突变检测，分析G6PD缺乏症患儿致病基因突变类型以及临床特点。结果G6PD基因突变检测结果显示，检测的1 740例患儿中，基因突变阳性病例119例，阳性检出率为6.84%。男性患儿构成比高于女性，差异有统计学意义（男性91例、女性28例，χ2 = 15.10，P < 0.001）；婴儿期占63.87%（76/119），幼儿期占18.49%（22/119）。共检测出11种已知致病基因突变类型和1种未知突变。前4位的致病基因突变类型，总体为c.1024 C>T、c.1376 G>T、c.1388 G>A、c.95 A>G，男性为c.1376 G>T、c.1388 G>A、c.1024 C>T和c.95 A>G，女性为c.1024 C>T、c.95 A>G、c.1388 G>A和c.519 C>T。119例G6PD基因突变患儿中，90例有不同程度的黄疸，其中高度及以上黄疸36例（包括极重度新生儿胆红素脑病2例），轻中度黄疸54例；37例发生不同程度贫血，其中轻度贫血6例、中度贫血12例、重度及以上贫血19例（含极重度贫血1例）。结论遵义地区G6PD缺乏症患儿存在12种基因突变类型，以c.1024 C>T、c.1376 G>T、c.1388 G>A、c.95 A>G较为常见。G6PD缺乏症患儿多伴有不同程度黄疸和贫血。

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简介：摘要目的通过患儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查，了解南平地区缺乏的状况。方法1007例患儿抽取静脉抗凝血用枸椽酸钠抗凝剂19抗凝，用高铁血红蛋白筛查试验。结果近两年对高胆红素血症在200ug以上的患儿1007例检测高铁血红蛋白筛查试验缺乏率在11.52%，其中男性524例、女性483人。检出阳性标本男性为67例占12.79%，女性为49例占10.14%。男性重度缺乏45例占8.59%女性重度缺乏12例占2.48%。结论南平属于南方山区是G6PD的高发区之一，缺乏率高而且男性缺乏率明显多于女性。

简介：摘要目的探讨荧光定量法与G6PD/6PGD比值法在葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症诊断的临床价值及基因突变类型分析。方法选择2018年6月至2021年3月就诊于上海市儿童医院疑似G6PD缺乏症的1 201例（男711例，女490例）患儿，采用荧光定量法、G6PD/6PGD比值法和多色熔解曲线分析法对酶活性、比值和基因突变类型进行检测。分析酶活性、比值与基因突变类型的关系，将荧光定量法和G6PD/6PGD比值法的结果与基因突变结果对比分析，采用受试者工作特征（ROC）曲线评价其诊断效能。结果1 201份可疑标本中，检出163份（男135份，女28份），其中荧光定量法检出156例，检出率95.71%，G6PD/6PGD比值法检出140例，检出率85.89%。男性患儿酶活性及比值明显低于女性患儿，差异均具有统计学意义（U=642.5、734.5，P均<0.001）。112例接受基因检测，检出92例，其中半合子突变74例，纯合突变1例，杂合突变15例，复合杂合突变2例。15例杂合突变中，荧光定量法检出11例，检出率73.33%，G6PD/6PGD比值法检出4例，检出率26.67%。基因共检出7个突变位点，所占比例分别为c.1388G>A型32.22%、c.1376G>T型30.00%、c.871G>A型13.33%、c.1024C>T型11.11%、c.95A>G型7.78%、c.487G>A型4.44%、c.392G>T型1.11%。c.1376G>T和c.1024C>T、c.487G>A酶活性差异有统计学意义（P<0.001、0.015）；c.1024C>T和c.1388G>A、c.1376G>T、c.871G>A、c.95A>G比值差异均有统计学意义（P=0.017、0.002、0.011、0.013）。ROC曲线分析荧光定量法敏感度100%，特异度95.65%，曲线下面积（AUC）0.972。G6PD/6PGD比值法敏感度100%，特异度94.57%，AUC 0.979。荧光定量法和G6PD/6PGD比值法联合检测时敏感度最高96.7%，特异度最高100%，AUC 0.992。结论与荧光定量法相比，G6PD/6PGD比值法可能无法有效检出女性杂合子；G6PD荧光定量法结合G6PD/6PGD比值法检测有利于减少漏诊，结合基因突变分析，可能提高G6PD患儿诊断率。

简介：AbstractPurpose:Malnutrition is a common problem among hospitalized patients, especially among traumatic brain injury (TBI) patients. It is developed from hypermetabolism and the condition may worsen under the circumstance of underfeeding or incompatible dietary management. However, the data of nutrient intake especially calorie and protein among TBI patients were scarce. Hence, this study aimed to determine the calorie and protein intake among acute and sub-acute TBI patients receiving medical nutrition therapy in hospital Sultanah Nur Zahirah, Terengganu.Methods:This observational study involved 50 patients recruited from the neurosurgical ward. Method of 24 h dietary recall was utilized and combined with self-administered food diaries for 2-8 days. Food consumptions including calorie intake and protein intake were analyzed using Nutritionist PRO™ (Woodinville, USA) and manual calculation based on the Malaysian food composition database (2015).Results:Patients consisted of 56% males and 44% females with the median age of 28.0 (IQR = 22.8-36.5) years, of which 92% were diagnosed as mild TBI and the remaining (8%) as moderate TBI. The Glasgow coma scale (GCS) was adopted to classify TBI severity with the score 13-15 being mild and 9-12 being moderate. The median length of hospital stay was 2 (IQR = 2.0-3.3) days. Calorie and protein intake improved significantly from day 1 to discharge day. However, the intake during discharge day was still considered as suboptimal, i.e. 75% of calorie requirement, whilst the median protein intake was only 61.3% relative to protein requirement. Moreover, the average percentages of calorie and protein intakes throughout hospitalization were remarkably lower, i.e. 52.2% and 41.0%, respectively.Conclusion:Although the calorie and protein intakes had increased from baseline, hospitalized TBI patients were still at a risk to develop malnutrition as the average intakes were considerably low as compared to their requirements. Optimum nutrient intakes especially calorie and protein are crucial to ensure optimum recovery process as well as to minimize risks of infection and complications.

简介：摘要目的了解云浮市新生儿G6PD缺乏症的发生率。方法对出生48～72h后的32237名新生儿（男婴17988人，女婴14249人）采集足跟血制作血滤纸干标本，采用荧光斑点定性试验测定G6PD活性。结果初筛G6PD缺乏阳性2648人，其中男婴2152人，女婴496人，总的G6PD缺陷初筛检出率为8.21%，云浮市发病率与广东其他地区差别有统计学意义（P<0.05）。其中男婴为11.9%，女婴为3.48%。经统计分析显示男婴与女婴的发病率差别有统计学意义（P<0.05），并且云浮市各地区的发病率差别也存在差异，有统计学意义（P<0.05）。结论云浮市新生儿G6PD缺乏症发生率明显高于广东省其他地区，而且G6PD缺乏者男性明显高于女性，并且云浮市各地区的G6PD缺乏症发病率不一样。因此应在新生儿进行常规筛查，有效预防由于G6PD缺乏而引起的一系列疾病的发生。