Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice: interaction with multiple risk factors.

This nonconcurrent cohort study was carried out to evaluate the association of neonatal jaundice with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and its interactions with other risk factors. The G-6-PD enzyme activity of 12,379 neonates was screened by a semi-quantitative fluorometric assay and double-checked by a quantitative method to identify a G-6-PD deficient cohort of 333 neonates. Matched with these on birth date, sex and delivery hospital were a G-6-PD normal cohort of 653 neonates. Neonatal jaundice was defined by a peak serum bilirubin (PSB) level of > or = 15 mg/dl. A significant association between G-6-PD deficiency and neonatal jaundice was observed in male but not female neonates. There was an inverse dose-response relation between G-6-PD activity and neonatal jaundice among male neonates. Both hypoxia/asphyxia and maternal hepatitis B surface antigen (HBsAg) carrier status were associated with an increased risk of neonatal jaundice among G-6-PD deficient but not G-6-PD normal male neonates. Based on multiple regression analyses, an additively synergistic effect on PSB level and severe jaundice (PSB > or = 20 mg/dl) was observed for G-6-PD deficiency and maternal HBsAg carrier status.     

VitB_2、VitE联合应用防治G-6PD缺陷高胆新生儿光疗时溶血

目的探讨VitB2、VitE联合防治光疗致G-6PD缺陷新生儿溶血加重疗效。方法将G-6PD缺陷需光疗治疗的新生儿随机分为VitB2、VitE干预组和对照组,测定比较总胆红素(TB)、血红蛋白(Hb)及光疗指数。结果光疗后对照组Hb下降比干预组显著,光疗指数大(均p<0·01)。结论光疗致G-6PD缺陷患儿溶血加重,VitB2、VitE干预有效。     

Low glucose-6-phosphate dehydrogenase (G-6-PD) activity in red blood cells and susceptibility to copper-induced oxidative damage

The effects of copper on selected characteristics of blood from normal and G-6-PD deficient humans and sheep of the Dorset Strain (which also have comparable red cell G-6-PD activity units as G-6-PD deficient humans) were compared. Both the G-6-PD deficient humans and sheep were found to be markedly more sensitive to several indicators of oxidant stress as measured by increases in methemoglobin levels and decreases in the activity of red cell acetylcholinesterase. These findings indicate that susceptibility to copper-induced oxidative stress is associated with the presence of low red cell G-6-PD activity.     

Haemolytic effect of trimethoprim:Sulphamethoxazole in G-6-PD deficiency

Observations are reported on the survival of ⁵¹Cr-labelled glucose-6-phosphate dehydrogenase (G-6-PD) deficient cells transfused into normal recipients before and after the administration to the recipient of trimethoprim and sulphamethoxazole, alone or in combination, in varying doses. Trimethoprim did not reduce the $\text{T}\text{1}\text{2}$ of the transfused deficient red cells. In 4 of 6 instances sulphamethoxazole did so but only in the somewhat high dose of 90 mg./kg./day, the $\text{T}\text{case1}\text{2}$ being unaffected by smaller doses.However it cannot be concluded from the foregoing that the haemolysis of G-6-PD deficient red cells, provoked by sulphamethoxazole is dose dependent, for severe intravascular haemolysis has been encountered in 2 G-6-PD deficient patients with trivial infections within 48 hours of starting to take 30 mg./kg./day of sulphamethoxazole. It is concluded that the drug should be administered to those of ethnic groups in which this deficiency is common only when the deficiency has been excluded.     

11574例新生儿脐血G-6-PD筛查结果分析

目的了解本地区G-6-PD缺陷的发生率及新生儿脐血筛查对诊断G-6-PD缺陷的应用价值。方法对产科出生的11574例全部活产婴作脐血G-6-PD筛查,分别于3~5岁对脐血检测G-6-PD缺陷者(320例)和G-6-PD正常者(215例)复查G-6-PD活性。结果11574例中,脐血检测G-6-PD缺陷641例,缺陷率为5.5%;男性缺陷率为7.9%,女性为3.0%,二者比较差异有统计学意义(P<0.001),对缺陷者复查幼儿血检测G-6-PD活性,二者符合率高达96.7%。结论G-6-PD缺陷在本地区常见,脐血筛查可作为诊断G-6-PD缺陷的有力依据,对降低其发病率有重要意义。     

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.     

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。     

昆明地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查研究

目的:采用G6PD/6PGD比值法,对昆明地区705名男性新生儿及728名女性新生儿进行葡萄糖-6-磷酸脱氢酶缺乏症筛查。结果:男性新生儿葡萄糖-6-磷酸脱氢酶缺乏症发生率为5.11%,女性新生儿发生率为7.55%。昆明作为此症的高发地区,常规开展新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查工作可使临床医生对缺乏症患者及时采取综合性预防措施,避免因出现核黄疸而致的智力低下或死亡等后果,从而提高优生优育水平。结论:G6PD/6PGD比值法能较为有效地检出女性杂合子,具有明显的优点。     

应用自动连续微量流动荧光分析系统进行新生儿疾病筛查

目的对深圳市各设产科医院出生的新生儿进行先天性遗传性代谢异常疾病筛查,使患儿得到早期诊断和早期治疗,避免或减轻疾病对体格和智能发育的影响。方法应用自动连续微量流动荧光分析系统,对出生72h后,正常哺乳的新生儿足跟血干血片同步筛查三种疾病:苯丙酮尿症、半乳糖血症、葡萄糖6磷酸脱氢酶缺乏症。结果对深圳市548217名新生儿进行了筛查检测,筛查出4079名患儿,其中高苯丙氨酸血症6例、苯丙酮尿症12例、四氢喋呤缺乏症4例、高半乳糖血症10例、葡萄糖6磷酸脱氢酶缺乏症4047例。结论应用自动连续微量流动荧光分析系统进行新生儿疾病筛查具有自动化程度高,定量分析精确,重复性好,试剂成本较低等优点。     

Some biochemical changes in lenses of riboflavin deficient rats.

In order to better understand the role of riboflavin in the lens, we investigated the lenses of rats fed on a riboflavin deficient diet for 7 weeks to determine changes in the inactivation of cortisol, the glucose-6-phosphate dehydrogenase (G-6-PD) activity and the histidine or 5-hydroxytryptophan decarboxylase activity. The cortisol-binding capacity and G-6-PD activity in the lenses of rats fed on a riboflavin deficient diet were found to be decreased as compared with a control. Histidine decarboxylase activity was found twice as high in the riboflavin deficient rats as in the normal lenses however, 5-hydroxytryptophan decarboxylase was somewhat decreased. These findings show that catabolical changes in the metabolism of rat lenses are induced comprehensively by feeding on a riboflavin deficient diet in the same manner as changes are seen in the cataractous lens.     

Genetico-epidemiological and molecular investigation of G-6-PD deficiency in a Brazilian community

This paper reports on a study of the G-6-PD deficiency in Bragan?a Paulista, S?o Paulo State, Brazil. A total of 4,621 male blood donors were investigated over a 36-month period. Of these, 80 had the G-6-PD deficiency. Molecular analysis was performed on 70 unrelated G-6-PD deficients through DNA amplification followed by digestion with restriction enzymes and single strand conformation polymorphism analysis (SSCP). In 98.6%, the G-6-PD A- (202 G<--A) mutation was observed through digestion of exon 4 with Nla III. The presence of an uncommon mutation in exon 9 was also observed through SSCP. No case of the Mediterranean variant was observed. These results indicate that the A- (202G<--A) variant, almost exclusive, was introduced into the community not only by individuals of African origin, but also by European immigrants, mainly Italian, Spanish, and Portuguese. The Italian contribution in terms of the G-6-PD Mediterranean variant was smaller than its contribution to beta thalassemia, probably due to the Northern Italian origin of these immigrants.     

应用自动连续微量流动荧光分析系统进行新生儿疾病筛查

目的对深圳市各设产科医院出生的新生儿进行先天性遗传性代谢异常疾病筛查，使患儿得到早期诊断和早期治疗，避免或减轻疾病对体格和智能发育的影响。方法应用自动连续微量流动荧光分析系统．对出生72h后，正常哺乳的新生儿足跟血干血片同步筛查三种疾病：苯丙酮尿症、半乳糖血症、葡萄糖6磷酸脱氢酶缺乏症。结果对深圳市548217名新生儿进行了筛查检测，筛查出4079名患儿，其中高苯丙氨酸血症6例、苯丙酮尿症12例、四氢喋呤缺乏症4例、高半乳糖血症10例、葡萄糖6磷酸脱氢酶缺乏症4047例。结论应用自动连续微量流动荧光分析系统进行新生儿疾病筛查具有自动化程度高，定量分析精确，重复性好，试剂成本较低等优点。     

An evaluation of the dorset sheep as a predictive animal model for the response of glucose-6-phosphate dehydrogenase-deficient human erythrocytes to a proposed systemic toxic ozone intermediate, methyl oleate ozonide

Erythrocytes of both glucose-6-phosphate dehydrogenase (G-6-PD)-deficient humans and Dorset sheep, an animal model with an erythrocyte G-6-PD deficiency, responded in a dose-dependent manner to the oxidant stress of methyl oleate ozonide (MOO) as measured by decreases in G-6-PD activity, increases in methemoglobin (METHB) levels, and decreases in GSH. However, the human G-6-PD-deficient erythrocytes were considerably more sensitive to the formation of METHB than the sheep erythrocytes while the reverse was the case for the GSH parameter. The results suggest a qualitative difference in the response of sheep erythrocytes and human G-6-PD-deficient erythrocytes to MOO that seriously questions the value of the sheep erythrocyte as a quantitatively accurate predictive model.     

The effect of methyl oleate hydroperoxide,a possible toxic ozone intermediate,on human normal and glucose-6-phosphate dehydrogenase-deficient erythrocytes

Erythrocytes of both normal and glucose-6-phosphate dehydrogenase (G-6-PD)-deficient humans responded in a dose-dependent manner to the oxidant stress of methyl oleate hydroperoxide (MOHP) as measured by decreases in G-6-PD activity, increases in methemoglobin (METHB) levels, and decreases in reduced glutathione (GSH). The G-6-PD-deficient erythrocytes displayed a markedly enhanced sensitivity to MOHP-induced decreases in G-6-PD activity and METHB increases while being less sensitive than normal erythrocytes to changes in GSH levels.     

A reassessment of risk factors for neonatal tetanus

A hospital-based case-control study was conducted to further examine the risk factors for neonatal tetanus (NNT) in the North-west Frontier Province of Pakistan. Three control infants were concurrently evaluated for each of 102 consecutively diagnosed NNT cases hospitalized over an 8-week period. Application of clarified butter (ghee) during the first few days of life was shown to be a significant risk factor, confirming our previously reported finding. However, the risk appeared to be limited to ghee made in the home from cow's milk. The tool used to cut the umbilical cord was again refuted to be a risk factor; application of topical antibiotics conferred significant protection. Multivariate analysis of the matched data showed that delivery by persons with academic training (physicians, nurses, and lady health visitors) was also protective. Mothers with a past history of NNT babies were shown to have a significantly increased risk, and accounted for more than one-third of all cases in the present study. The findings suggest possible ways to augment the effectiveness of NNT elimination programmes.     

Family Socio-Demographic Factors and Maternal Obstetric Factors Influencing Appropriate Health-Care Seeking Behaviours for Newborn Jaundice in Sagamu,Nigeria

Poor care-seeking behaviour of families may be responsible for the high prevalence of complications of newborn jaundice in the developing world. To examine the influence of family socio-demographic characteristics and maternal obstetric factors on health care-seeking behaviours for newborn jaundice and the inter-relationship between this behavior and severity of newborn jaundice. Mothers whose babies were referred to a Nigerian tertiary hospital with jaundice were studied in a cross-sectional survey for appropriate health-care seeking behaviours as well as the need for exchange transfusion and the occurrence of kernicterus in their babies. Out of 182 mother-baby pairs, 127 (69.8%) mothers recognized jaundice in their infants, 34.1% delayed care for ≥48 h, 40.6% sought medical care in orthodox health facilities while 20.9% did not seek care outside the home. In all, 61.5% mothers administered various medications to jaundiced babies. Appropriate health care-seeking behaviours were recorded among 28.6% mothers. Low maternal education had a significant relationship with delayed health care-seeking and the use of home remedies for newborn jaundice. A significantly higher proportion of babies who had home remedies had delayed care. Delayed care for ≥48 h was also significantly associated with high Total Serum Bilirubin on admission, higher requirement for exchange transfusion and higher occurrence of kernicterus. Intensive health education of families may help improve their health care-seeking behaviours for neonatal jaundice.     

广东粤北地区新生儿疾病筛查及防治对策研究

目的 分析2009-2012年广东省粤北地区新生儿疾病筛查现状和先天性甲状腺功能减低症（CH）、葡萄糖-6-磷酸脱氢酶缺乏症（G-6-PD）和苯丙酮尿症（PKU）的发病率情况.方法 对粤北地区2009-2012年新生儿疾病筛查资料进行回顾性分析.结果粤北地区2009-2012年的新生儿疾病平均筛查率为88.84％,并且逐年升高.CH发病率为0.56‰（1：1789）,高于广东其他城市;G-6-PD 7 759例,检出率为4.93％（1：20）; PKU 2例,检出率为0.013‰（1：78 707）.结论 总结分析粤北地区新生儿疾病筛查现状,为今后筛查工作的进展提供科学依据,对提高粤北地区出生人口素质,减少出生缺陷率,保障耍幼儿健康发展起着关键作用.     

葡萄糖6磷酸脱氢酶缺乏与新生儿高胆红素血症发生率关系探讨

目的:探讨葡萄糖6磷酸脱氢酶(G6PD)缺乏与新生儿高胆红素血症发生率及发病时间的关系。方法:对近年来本院产科分娩的新生儿脐血进行G6PD定量测定,对G6PD活性缺乏的患儿,按性别和缺乏程度分组调查其高胆红素血症发生率和发病时间。结果:①G6PD缺乏的患儿高胆红素血症发生率极显著高于对照组的新生儿。②在G6PD缺乏的患儿中,男性G6PD缺乏程度极显著低于女性(P<0.01);男性高胆红素血症发生率极显著高于女性(P<0.01);G6PD缺乏程度不同的患儿高胆红素血症发生率有显著差别(P<0.05)。③G6PD缺乏的患儿高胆红素血症的发病时间主要在出生后的1周内。结论:G6PD缺乏是新生儿发生高胆红素血症的病因之一。在G6PD缺乏的患儿中,高胆红素血症发生率具有男性多于女性、G6PD缺乏程度越重发病率越高、发病的高峰时间在出生后的2~4天。     

新生儿不明原因高间接胆红素血症临床分析

目的探讨不明原因高间接胆红素血症(高胆)的临床特点及其相关因素.方法对我院1990年～1999年收治的不明原因高胆足月新生儿316例进行回顺性分析.结果不明原因高胆患儿占同期高胆住院患儿的20.5%(316/1 539),男女=1.61,轻度占20.6%(65/316),中度占61.7%(195/316),重度占17.7%(56/316).重度组母O型血所占比例和母子血型不合发生率高于轻、中度组,差异有显著性(P＜0.05).重度组胆红素值降到正常时间及光疗时间明显长于其它2组,差异有显著性(P＜0.05).结论母亲O型血型可能为新生儿高胆发生和发展的危险因素.轻度高胆组可能包含有生理性黄疸,重度组可能包括部分新生儿ABO血型不合溶血病.