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1.
Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.  相似文献   
2.
Serum antioxidant status and peroxidative stress was estimated in 30 pregnant women, their newborn infants and 25 non-pregnant women. Serum Ascorbic acid, α-tocopherol, retinol & β-carotene levels were found to be significantly reduced and peroxidative stress was significantly higher in mothers as compared to matched non-pregnant women. Newborn had significantly higher levels of ascorbic acid as compared to their mother but had significantly lower levels of lipid soluble vitamins. The peroxidative stress in newborn was found to be significantly less as compared to their mothers. A positive correlation of ascorbic acid and α-tocopherol levels between mother and newborn reflects that their status in mother does influence the newborn status.  相似文献   
3.
Infants with respiratory distress syndrome (RDS) may suffer from severe hypoxia, asphyxia. In this study, we aimed to evaluate serum ischemia-modified albumin (IMA) level as a diagnostic marker for hypoxia in preterm infants with RDS. Thirty-seven premature newborns with RDS were allocated as the study group and 42 healthy preterm neonates were selected as the control group. IMA was measured as absorbance unit (ABSU) in human serum with colorimetric assay method which is based on reduction in albumin cobalt binding. IMA levels were significantly higher in neonates with RDS as compared to the control group (P < 0.001). Cut-off value of IMA (ABSU) was 0.72, the sensitivity level was 91.9 %, the specificity was 78.6 %, positive predictive value was 79.1 % and negative predictive value was 91.7 % at RDS. Area under curve values was 0.93 (P < 0.001; 95 % CI, 0.88–0.98) in the receiver operating characteristic curve. We concluded that elevated blood IMA levels might be accepted as a useful marker for hypoxia in newborn with RDS.  相似文献   
4.
Concentrations of various trace elements are altered during pregnancy with changes in the mother’s physiology and the requirements of growing fetus. The aim of the present longitudinal study was to learn the changes of micronutrients Iron (Fe), Calcium (Ca), zinc (Zn) Magnesium (Mg) and copper (Cu) of pregnant woman and their relations with newborns levels. Serum levels of iron, calcium, zinc, magnesium and copper of 162 pregnant women and their newborns were determined by an inductively couple plasma mass spectrometer (ICP/MS). The results showed that majority (41 %) of pregnant women were in age group 26–36 years 55 % had high school and diploma levels of education and the total income ranged between 3 and 5 Rials million per month There was significant difference in iron levels during first, second and third trimesters, 76.0 ± 17.8, 63.5 ± 15.2 and 70.1 ± 14.4 μg/dl respectively. Significant difference was shown in zinc levels 79.5 ± 15, 74.5 ± 16.1, and 65.3 ± 14.9 μg/dl during three trimesters. Copper levels during pregnancy were significantly different (130.9 ± 43.5, 172.0 ± 38.94, 193.2 ± 28.5 μg/dl. The serum levels of calcium and magnesium during pregnancy were constant (Ca: 8.96 ± 0.48, 8.86 ± 0.47, 8.91 ± 0.42 mg/dl and Mg: 2.10 ± 0.21, 2.08 ± 0.28, 2.09 ± 0.29 mg/dl). Results showed that 13 % of pregnant women had hypocalcaemia and hypomagnesaemia. Thirty eight percent and 42 % of pregnant women had iron and zinc deficiency respectively. In this study, unlike zinc, no pregnant women were found deficient in serum copper levels. Calcium, iron, zinc, copper and magnesium levels in the newborn’s cord blood were 8.93 ± 0.43, 106.0 ± 26.1, 85.35 ± 16.6, 57.04 ± 13.8 and 1.99 ± 0.27 mg/dl respectively. In the present study the levels of iron and zinc in cord blood were higher than the levels of iron and zinc in maternal serum. The mean level of copper in cord blood serum in the current study was lower than maternal values. The mean serum calcium and magnesium in the serum cord blood and in the serum of the pregnant women were similar.  相似文献   
5.
母乳喂养新生儿低血糖影响因素观察   总被引:2,自引:0,他引:2  
目的:探讨纯母乳喂养新生儿血糖变化及低血糖的影响因素。方法:在出生后1、4、8、12、24、48、72h对纯母乳喂养的新生儿360例进行血糖系列监测。结果:新生儿出生后1h的平均血糖浓度较低为(2.8±0.95)mmol/L,4h后升高并逐渐稳定为(3.22±1.03)mmol/L;有糖代谢异常母亲的新生儿、巨大儿、低体重儿,其出生3d内低血糖的发生率分别为23.2%(16/69)、37.2%(35/94)、30.8%(12/39),显著高于无以上并发症的正常新生儿(13.3%,21/158)。结论:纯母乳喂养儿出生1h血糖偏低,有糖代谢异常母亲的新生儿、巨大儿、低体重儿,出生3d内低血糖发生率较高,应给予严密监测,以预防有症状的低血糖发生。  相似文献   
6.
采用文献资料法、测试法等研究方法,对北京邮电大学、北京农业大学、北京交通大学等34所高校新生的体质健康状况进行了测试调查与分析,以期找出新生体质健康存在的主要问题,并提出针对性的建议,为学校进一步贯彻健康第一教育思想,实施教育部、国家体育总局指定的《学生体质健康标准(试行方案)》奠定基础。  相似文献   
7.
目的:通过CT检查,对新生儿窒息的预后进行更好的评价。方法:选择114例窒息新生儿,其中26例早产儿、88例足月儿进行研究,选择48例无窒息新生儿,其中20例早产儿、28例足月儿进行对照分析。将其分为轻度窒息、重度窒息;根据CT表现,将新生儿缺血缺氧性脑病(HIE)分为轻、中、重度。按照Apgar评分标准进行评分。结果:114例窒息新生儿中,轻度窒息78例,重度窒息36例,颅内出血48例,治愈109例,死亡5例。结论:轻度窒息新生儿发生HIE后,轻、中度较多,而重度窒息后发生HIE的新生儿重度者较多。轻度HIE新生儿,经积极治疗后,预后较好,重度HIE特别是合并颅内出血者预后较差。早产儿的额叶、枕叶低密度改变不能作为新生儿缺血缺氧性脑病的依据,应根据有无窒息史及临床症状和体征来判断。  相似文献   
8.
新生教育是整个大学教育的起点,起着成才发展的"导航"作用,同时也是加强和改进大学生思想政治教育的重要载体和手段。辅导员是联系广大学生与校院(系)领导之间的桥梁,负责广大学生的学习、生活等方面的工作,辅导员的工作做得到位与否将直接对广大学生的学习、生活、心理等方面产生影响,特别是大一的新生更是如此。本文从大学新生教育的现状谈起,分析新生教育存在的问题和原因,并在明确的思想和方向的指导下,提出大学辅导员在现今大学发展的形势下新生教育中的改革和创新建议。  相似文献   
9.
10.
Pregnancy is associated with increased demand of all the nutrients like Iron, Copper, Zinc etc. and deficiency of any of these could affect pregnancy, delivery and out come of pregnancy. With this consideration, the study was conducted on 80 mothers and newborns and 20 age matched control women. Out of 80 mothers, 34 had Iron deficiency anemia and their Hb levels were below 9.0 gm/d1. Pregnant women had significantly lower Iron and Zinc levels while Copper and Total Iron Binding Capacity (TIBC) were significantly higher (P<0.001). Newborns had significantly elevated Iron and Zinc levels and low levels of Copper and TIBC as compared to their mothers irrespective of Iron deficiency anemia. Micronutrient status of newborn was found to be dependent on their mother's micronutrient status. Besides, results also suggest micronutrient interactions, which are reflected in Iron/Zinc, Iron/Copper and Zinc/Copper ratios. In view of this, there is need for proper, adequate and balanced micronutrient supplementation during pregnancy to affect a healthy outcome.  相似文献   
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