2013-2017年红河州、西双版纳州新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

目的通过对2013-2017年云南省红河州、西双版纳州185 724例新生儿葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查结果分析,了解这两个少数民族自治州的检出情况和差异,为该病在高发地区的新生儿筛查提供依据和参考。方法采集出生72 h后,7 d内并充分哺乳后的新生儿足跟血制成滤纸干血斑,应用荧光分析法测定干血斑的G-6-PD浓度,召回筛查阳性新生儿,采集静脉血以G-6-PD酶活性法或G-6-PD/6-磷酸葡萄糖脱氢酶(6-PGD)比值法进行确诊。结果男性新生儿G-6-PD缺乏症的检出率明显高于女性,差异有统计学意义(P <0. 01)。西双版纳州筛查阳性率为1. 50%,高于红河州的0. 48%;红河州阳性预测值为98. 80%,高于西双版纳州的94. 44%。筛查阳性率及阳性预测值差异均有统计学意义(P<0. 05)。结论红河州和西双版纳州是少数民族集中地区,属于G-6-PD缺乏症高发区,西双版纳州G-6-PD缺乏症检出率高于红河州。在西双版纳州等气温较高地区要特别注意样本采集和运送过程的储存条件,保证筛查结果准确性。     

甲醛对雄性小鼠睾丸中酶活力的影响

目的探讨甲醛对雄性小鼠睾丸中酶活力的影响。方法28只昆明种雄性小鼠随机分为4组,每组7只。设低、中、高剂量组分别以0.2、2.0、20.0mg/kg甲醛腹腔注射染毒,每天1次,连续7d,测定睾丸中乳酸脱氢酶(LDH)、葡萄糖-6-磷酸脱氢酶(G-6-PD)、山梨醇脱氢酶(SDH)活力。同时设对照组,腹腔注射生理盐水。结果小鼠睾丸G-6-PD、SDH活力随染毒剂量增大而降低,低、中、高剂量组SDH活力与对照组比较,差异均有统计学意义(P<0.05或P<0.01),低、中、高剂量组LDH和G-6-PD活力与对照组比较,差异无统计学意义(P>0.05)。结论甲醛对雄性小鼠睾丸中的酶具有不良影响,从而产生一定的生殖毒性。     

食新鲜蚕豆致蚕豆病1例

蚕豆病是一种红细胞葡萄糖6-磷酸脱氢酶（G-6-PD）缺乏所导致的疾病，表现为在遗传性葡萄糖-6-磷酸脱氢酶（G-6-PD）缺陷的情况下，食用新鲜蚕豆或其制品后突然发生的急性血管内溶血。严重者可出现昏迷、惊厥和急性肾衰竭，若抢救不及时，常于1-2d死亡。笔者在临床中曾遇1例，因诊断救治及时，患儿性命得以挽救，现报告如下。     

新生儿红细胞葡萄糖-6-磷酸脱氢酶缺乏筛查结果分析

目的:了解广东省肇庆市端州区新生儿脐血红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏的发生率。方法:2 236例活产新生儿出生后即取脐血,采用定量法测定红细胞G-6-PD/6-PGD的比值,低于1.0者为G-6-PD缺乏。结果:G-6-PD缺乏的患儿152例,总发生率为6.79%。其中男129例,发生率为10.34%;女23例,发生率为2.32%,男性发生率明显高于女性(2χ=90.03,P<0.001)。结论:脐血G-6-PD活性筛查,能比较准确地检测出G-6-PD缺乏患儿,指导临床对其并发症进行早期干预,避免智力低下等后遗症的发生,提高人口素质。     

6432例住院分娩活产儿G-6-PD缺陷症筛查状况

目的:了解6 432例住院分娩活产新生儿红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺陷症的筛查状况。方法:采用G6PD/6PGD比值法进行检测,ODG6PD/OD6GPD比值﹤1.0为G-6-PD缺陷症。结果:住院分娩活产儿G-6-PD筛查率为85.17%(5 478/6 432),男性G-6-PD缺陷症发生率为8.98%(253/2 818),高于女性〔1.80%(48/2 660)〕,差异有统计学意义(χ2=145.173,P<0.05)。结论:提高新生儿G-6-PD缺陷症的筛查率,及早发现G-6-PD缺陷症可避免核黄疸和药源性溶血的发生,提高人口素质。     

环江县部分毛南族和壮族儿童G-6-PD缺乏调查

对环江县毛南族及壮族部分儿童葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏状况进行调查，为该病的防治提供科学数据。     

新生儿红细胞G-6-PD活性和G-6-PD/6-PGD比值参考范围调查

【目的】探讨采用速率法(亦称连续监测法)通过全自动生化仪定量测定新生儿红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)活性的可行性,并建立新生儿参考范围。【方法】采用速率法和改良G-6-PD比值法(简称改良比值法)分别测定新生儿红细胞G-6-PD活性和G-6-PD/6-PGD比值,并建立新生儿参考范围。【结果】速率法测定新生儿红细胞G-6-PD活性95%参考范围为4.537~10.078 U/g Hb,99%参考范围为3.192~11.013 U/g Hb。改良比值法测定新生儿红细胞G-6-PD/6-PGD比值95%参考范围为1.005~2.196,99%参考范围为0.821~2.128。直线相关分析显示,速率法测定新生儿红细胞G-6-PD活性与改良比值法测定新生儿红细胞G-6-PD/6-PGD比值的结果相关(r=0.443,P<0.05)。【结论】采用速率法可以完成红细胞G-6-PD活性定量测定,为临床常规需要服务,适合推广应用;新生儿参考范围的建立,将有利于新生儿红细胞G-6-PD缺乏症诊疗工作的普遍开展。     

呋喃丹对大鼠睾丸组织标志酶活性影响的动态观察

为探讨农药呋喃丹对雄性大鼠睾丸组织的损害作用 ,以低、中、高剂量 (0 3、1 5和 3 0mg kgBW)经口连续染毒 77天 ,分别于染毒第 7、35和 77天检测大鼠血清及睾丸组织匀浆中 β-葡萄糖苷酶 (β-G)、葡萄糖 - 6 -磷酸脱氢酶 (G - 6 -PD)、乳酸脱氢酶同工酶X(LDHx、)的活性。结果显示 ,染毒第 7天大鼠 3个染毒组血清中 β -G活性显著低于对照组 (P <0 0 5) ,低剂量组睾丸组织匀浆中 β -G活性高于对照组、而高剂量组低于对照组 (P <0 0 5) ;染毒第 77天中高剂量组血清中G - 6 -PD活性 ,高剂量组睾丸组织匀浆中LDHx活性均低于对照组 (P <0 0 5) ,其它指标及时段未见明显改变。提示呋喃丹对大鼠睾丸组织有一定损害作用。     

蚕豆病60例临床分析

目的探讨蚕豆病的发病因素及诊疗措施。方法回顾性总结60例蚕豆病的临床资料,分析其发病机制,治疗措施及预后。结果蚕豆病4岁以下患者占70.15%,病死率为0.17%;所有病例葡萄糖-6磷-酸脱氢酶(G-6-PD)活性均降低。结论蚕豆病是一种遗传性疾病,主要是由于G-6-PD缺陷者进食蚕豆而引起的急性溶血性贫血,为非自限性,及时输注新鲜血液、激素及碱化尿液等综合措施,是有效的治疗方法。     

存储温度和时间对滤纸片干血斑标本葡萄糖-6-磷酸脱氢酶活性的影响

目的探讨存储温度和时间对滤纸片干血斑标本葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase,G6PD）活性的影响，选择合适的存储条件，提高实验准确性，降低假阳性率。方法研究对象为2006年6月在云南省第一人民医院遗传诊断中心门诊就诊的25例筛查葡萄糖-6-磷酸脱氢酶缺乏症个体（成年个体为20例，新生儿为5例）的滤纸片干血斑标本（成年患者取手指末稍血，新生儿患者取足跟血于S＆S903滤纸片上），水平放置自然条件下干燥。将同一滤纸片干血斑标本分为3组，分别存储于4C冰箱（4C冰箱组）、室温和37C恒温温箱[室温组（约18C）和37C温箱组]中，在第1、第3、第6天采用荧光测定法测定葡萄糖-6-磷酸脱氢酶活性，比较滤纸片干血斑标本在不同存储温度、存储时间测定的结果，探讨温度和时间对葡萄糖-6-磷酸脱氢酶活性的影响。结果荧光测定法所测4C冰箱组中，25例滤纸片干血斑标本葡萄糖-6-磷酸脱氢酶活性正常，测定值为（5．32±0．77）IU／g血红蛋白（Hb）。室温组和37C温箱组滤纸片干血斑标本葡萄糖-6-磷酸脱氢酶酶活性下降，与4C冰箱组比较，差异有显著意义（P〈0．01），且滤纸片干血斑标本存储于室温组第3天，即出现可疑阳性结果，而滤纸片干血斑标本在4C冰箱存储6d，无一例可疑阳性结果出现。干血滤纸片葡萄糖-6-磷酸脱氢酶酶活性与存储温度和时间，存在相关性（R=0．683，P〈0．01），滤纸片干血斑标本存储温度升高和（或）存储时间延长，将使葡萄糖-6-磷酸脱氢酶活性降低。结论随着滤纸片干血斑标本存储温度的升高和存储时间的延长，葡萄糖-6-磷酸脱氢酶活性显著降低，出现可疑阳性，甚至假阳性结果。滤纸片干血斑标本水平放置自然干燥3h后，存储在4C冰箱内最为合适。应避免将滤纸片干血斑标本长时间暴露于室温?     

四氯化碳中毒大鼠肝脏Ca~(2 )-ATP酶和磷酸化酶a活性的研究

本实验采用雄性S.D.大鼠,经日一次灌注2.2ml/kg 四氯化碳,于染毒后12、24、48小时测定肝微粒体Ca~2 -ATP 酶和肝细胞液磷酸化酶a 活性变化。结果发现,染毒后大鼠肝微粒体Ca~2 -ATP 酶活性显著降低,以染毒后24小时为甚;肝细胞液磷酸化酶a 活性显著增高,以染毒后24小时为最高。说明四氯化碳致肝损伤时,肝内质网隔离钙的能力降低,胞液中钙浓度升高。本实验对于阐明四氯化碳中毒性肝病发病机理有一定的意义。     

Blood pressure and other cardiovascular disease risk factors in black adults with sickle cell trait or glucose-6-phosphate dehydrogenase deficiency

In this study, we examined the relationship of two common genetic markers in black populations, sickle cell trait and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, to cardiovascular risk factors. The subjects were Nigerian civil servants in Benin City, Nigeria. We measured blood pressure, height, weight, sickle cell hemoglobin, G-6-PD, proteinuria, microalbuminuria and fasting serum cholesterol, high-density lipoprotein cholesterol (HDL), triglycerides, apoprotein (APO) AI, and APO B. Data were collected on age, alcohol consumption, cigarette smoking, job status, and years lived in an urban area. There were 257 males (3 SS hemoglobin, 73 AS, 181 AA) and 69 females (23 AS, 46 AA). In comparing cardiovascular risk factors, males differed only in percent of smokers (31.5 in AS vs. 17.8 in AA, P less than 0.01). Among females, only high-density lipoprotein (HDL) cholesterol differed (61.5 mg/dl in AS vs. 52.4 in AA, P less than 0.01). We hypothesize that females with sickle cell trait are more likely to use oral contraceptives than nontrait females. If so, the high-estrogen oral contraceptives available in Nigeria could elevate HDL. G-6-PD deficiency status among males (52 deficient, 207 nondeficient) and females (1 deficient, 5 carriers, 65 nondeficient) was not related to any of the cardiovascular risk factors. We conclude that sickle cell hemoglobin trait and G-6-PD deficiency are not useful genetic markers for risk factors for cardiovascular disease.     

Glucose-6-phosphate dehydrogenase deficiency, neonatal tetanus and neonatal jaundice in Nigeria: Clinical observation

In a study of 92 cases of neonatal tetanus (NNT), it was found that 23 (25%) had associated neonatal jaundice (NNJ) but in none of them was NNJ severe enough to cause kernicterus. Glucose-6-Phosphate dehydrogenase (G-6-PD) deficiency was less common in babies with NNT than expected in general population (p 0.02). These babies with NNT were as exposed to icterogenic agents as jaundiced babies previously reported from the same institution. The lower incidence of G-6-PD deficiency in babies with NNT was probably due to the fact that G-6-PD deficient babies on exposure to icterogenic agents develop severe NNJ early and may die of kernicterus. Antibiotic therapy in jaundiced babies may prevent NNT in some of the G-6-PD deficient babies who are more prone to severe NNJ. More of the G-6-PD normal babies therefore remained at home till they develop NNT.

It is speculated that steps taken to prevent NNJ in the G-6-PD deficient babies by avoiding application of potentially infected icterogenic agents (i.e. menthol containing dusting powder or balms) to the cord will also prevent NNT in some of the G-6-PD normal babies.     

叶酸、VB6、VB12对血管细胞粘附分子-1表达影响

目的 观察叶酸(FA)、维生素B6(W6)、维生素B12(VB12)对同型半胱氨酸(Hcy)上调内皮细胞血管细胞粘附分子-1(VCAM-1)表达抑制作用.方法 将对数生长期大鼠主动脉内皮细胞随机分为5组,空白对照组、1 mmol/L Hcy组、抑制组I(1 mmol/L Hcy+5 μmol/L FA)、抑制组Ⅱ(1 mmol/L Hcy+5 μmol/L FA+5 nmol/LVB12)、抑制组HI(1 mmol/L Hcy+5 μmol/L FA+0.1 μmol/L VB6+5 nmol/L VB12)、逆转录聚合酶链反应(RT-PCR)检测血管细胞粘附分子VCAM-1的表达.结果 与空白对照组比较,1 mmol/L Hcy明显上调核转录因子Kb(NF-Kb)和VCAM-1 mRNA的表达,内皮-单核细胞粘附率由6.03%增加到59.04%(P<0.05);与1 mmol/LHcy组比较,3个抑制组NF-Kb(F=11.547,P=0.000)、VCAM-1 mRNA(F=94.014,P=0.000)的表达均明显下调,抑制组Ⅰ、Ⅱ、Ⅲ的内皮-单核细胞的粘附率分别为44.98%,27.23%,10.83%,均明显低于1 mmol/L Hcy组(P<0.05).结论 叶酸、VB6、VB12均可抑制NF-Kb、VCAM-1 mRNA的表达,减少内皮-单核细胞的粘附,缓解Hcy对血管内皮细胞的损伤作用,且三者同时使用效果更好.     

In vitro effect of mercury on enzyme activities and its accumulation in the first-trimester human placenta.

The effect of incubating young placental explants with HgCl2 on the activities of aryl hydrocarbon hydroxylase (AHH) (a phase I enzyme), quinone reductase (QR), catecholamine-O-methyltransferase (COMT) (both phase II enzymes), and glucose-6-phosphate dehydrogenase (G-6-PD) is described. Mercury (Hg) at low doses significantly elevated placental phase I and phase II enzyme activities, but decreased the activity of G-6-PD. The increase in activities, which was time- and dose-dependent, was higher in explants incubated for 24 hr than in those incubated for 6 hr. The decrease in placental G-6-PD activity was drastic at low Hg dose levels but at higher levels the inhibitory effect was milder for both incubation periods. Placental explants accumulated Hg in amounts proportional to its concentration in the incubation medium and this accumulation was greater in explants incubated for 24 hr. The data suggest that contamination with low Hg levels from the environment during pregnancy may affect placental enzymatic activity. The accumulation of Hg during short incubation indicates a strong placental cell affinity for Hg, which could affect its other metabolic functions. The system used in sensitive, as it shows alteration in enzyme activity even with relatively low concentrations of the metal and the response is dose-related.     

Effects of lindane on fish carbohydrate metabolism.

Exposure of the European eel (Anguilla anguilla) to a high sublethal concentration of 0.335 ppm (0.50 of the 96-hr LC50) of lindane for 6, 12, 24, 48, 72, and 96 hr affected carbohydrate metabolism. Muscle glycogen levels decreased significantly (P less than 0.05) at 6, 12, 24, 48, 72, and 96 hr; liver glycogen content did not decline at any time. Muscle glucose levels in fish were elevated at 6, 12, 24, 48, 72, and 96 hr but in liver, the levels increased only at 96 hr. Mean values of muscle and liver pyruvate were elevated significantly (P less than 0.05) at 6, 12, 24, 48, and 72 hr. Muscle lactate levels increased at 6, 12, 24, and 48 hr in pesticide-treated fish. Liver lactate levels were elevated only at 12, 24, and 48 hr of treatment. The observed effects of lindane on carbohydrate metabolism in fish are discussed in relation to acute stress syndrome. Measurement of carbohydrate metabolites in fish for 6 hr or longer could prove useful as a rapid method for evaluating the toxicity of pesticides and other toxicants.     

L-精氨酸诱导小鼠急性坏死性胰腺炎模型的建立

建立一种操作简便、重复性好的小鼠急性坏死性胰腺炎(ANP)模型。方法分两次间隔1h腹腔内注射L-精氨酸。注射后0、6、12、24、48和72h检测其血清淀粉酶活性及观察胰腺病理变化。结果L-精氨酸注射后6h血清淀粉酶活性最高，6h、12h、24h血清淀粉酶活性与对照组比较差异有显著性，48h和72h酶活性与对照组比较差异无显著性。胰腺组织病理学结果显示：24h后小叶间炎细胞浸润、腺细胞水肿，小叶边缘区腺泡细胞坏死，核固缩；48h可观察到大片状腺细胞坏死、部分腺泡呈孤岛状、脂肪组织变性坏死。结论分次大剂量L-精氨酸腹腔注射可建立一种操作简单，重复性好，非侵入性的小鼠急性胰腺炎模型。     

Effect of ethyl acetate on carbohydrate metabolism of common Indian catfish

Median lethal concentration (LC₅₀), LC₀, and LC₁₀₀ values of ethyl acetate for common Indian catfish, Heteropneustes fossilis, were estimated at 24, 48, 72, and 96 hr with 95% confidence limits. The 96-hr LC₅₀ value and harmless (safe) concentration were 212.5 and 63.89 ppm, respectively. Exposure of the fish to 170 ppm of ethyl acetate for 3, 6, 12, 48, and 96 hr induced marked changes in carbohydrate metabolism. Hepatic glycogen values declined significantly at 3, 48, and 96 hr, but there was no marked alteration in muscle glycogen content at any of the exposure periods. Hyperglycemia occurred at all time intervals. Blood pyruvate levels were elevated at 3, 6, 48, and 96 hr. Hyperlacticemia resulted at 3 and 96 hr but hypolacticemia occurred at 6 and 12 hr. Impairment of carbohydrate metabolism might be responsible for the toxic action of ethyl acetate.     

Study of some erythrocyte and serum enzyme activities in workers exposed to low ozone concentrations for a long time

Summary In 22 subjects exposed during work to ozone concentrations ranging from 0.160 to 0.290 ppm, the following enzyme activities were measured at the end of a normal work shift: AchE, G-6-PDh, PK in erythrocytes, LDH and alfa HBDH in serum.AchE of erythrocytes and serum LDH and alfa HBDH were determined also after three weeks of nonexposure to ozone.LDH and alfa HBDH activities decreased at the second determination; the difference between the two determinations was statistically significant (P<0.001).The results indicate that an exposure to 0.2 ppm of ozone, if prolonged in time, may affect the air-blood barrier and possibly cause alteration of some serum enzyme activities.Concentrations of ozone around 0.2 ppm should therefore be avoided in urban and industrial areas.Abbreviations AchE Acetylcholinesterase in erythrocytes - G-6-PDh Glucose-6-phosphate dehydrogenase in erythrocytes - PK Pyruvate kinase in erythrocytes - LDH Lactate dehydrogenase in serum - alfa HBDH alfa Hydroxybutyrate dehydrogenase in serum