廊坊地区41062例新生儿遗传代谢病串联质谱筛查结果分析

目的 对廊坊地区41062例新生儿35种遗传代谢病串联质谱筛查情况进行总结分析。方法 对2020年1月至2020年12月廊坊地区出生的新生儿足跟血进行氨基酸代谢异常、有机酸代谢异常、脂肪酸代谢异常等35种遗传代谢病串联质谱检测,总结目前廊坊地区新生儿串联质谱筛查工作现状,比较廊坊地区与国内外其他地区遗传代谢病发病率及种类分布。结果 41062例新生儿中,共筛查出患病儿童18例,总检出率为1/2281,其中氨基酸代谢障碍性疾病9例（50%）,脂肪酸代谢障碍性疾病5例（27.78%）,有机酸代谢障碍性疾病4例（22.22%）。结论 串联质谱检测技术可以高效地对遗传代谢病进行筛查,做到早发现早诊断早治疗,是出生缺陷防控的重要措施。     

高效液相串联质谱技术在出生缺陷防控中的应用价值分析

目的分析高效液相串联质谱技术在出生缺陷防控中的应用价值。方法选取2017年1月～2018年12月于采集到的5000份新生儿足跟血样,利用高效液相串联质谱技术进行新生儿遗传代谢病检测,疑似样本经基因检测复测,对高效液相串联质谱技术在出生缺陷防控中的应用价值予以分析。结果基因检测结果证实,氨基酸代谢障碍12例、有机酸代谢障碍10例、脂肪酸氧化代谢障碍18例,高效液相串联质谱技术符合率与之相比差异无统计学意义(P0.05);40例遗传代谢病患儿高效液相串联质谱技术筛查指标与正常新生儿相比,差异有统计学意义(P0.05)。结论在出生缺陷防控中高效液相串联质谱技术能够取得理想的应用效果,为新生儿遗传代谢病早发现、早治疗提供有力的帮助,值得加以推广使用。     

11204例新生儿串联质谱筛查结果分析

目的通过采用串联质谱技术对我院新生儿进行多种遗传代谢病的筛查,探讨其应用价值,并了解我市串联质谱目标筛查疾病的发病情况。方法采集新生儿足跟血干血滤纸片,利用串联质谱筛查技术对新生儿进行氨基酸代谢、有机酸代谢和脂肪酸氧化代谢三类共26种遗传代谢病初筛,可疑阳性者召回采集尿液、血浆进行有机酸、氨基酸及基因突变的分析,并结合其临床表现进行确诊。结果 11 204例新生儿中筛查出可疑阳性295例,阳性率1/38;确诊5例患儿,男4例,女1例,发病率为1/2241。结论应用串联质谱技术进行新生儿疾病筛查,有利于新生儿遗传代谢病的早期发现及诊治,有效保障儿童健康提高出生人口素质。     

新生儿遗传代谢病筛查研究进展

出生缺陷是引起新生儿残疾与死亡的主要原因,通过新生儿筛查,使得遗传疾病得以早诊断、早治疗,减少残疾患儿和降低新生儿死亡率。我筛查中心采用串联质谱技术对山西省六地市进行了新生儿遗传代谢病筛查工作,本文介绍了新生儿遗传代谢病筛查的方法、结果、现状和意义,为进一步改善和促进我国的新生儿遗传代谢病筛查工作提供信息支持。     

临沂地区新生儿遗传代谢病串联质谱结果分析

目的探讨串联质谱技术在新生儿遗传代谢病筛查和诊断中的作用和意义,统计并了解我市遗传代谢病发病率。方法收集2014年7月～2017年9月临沂市出生的新生儿足跟血干血滤纸片,通过串联质谱技术检测样本中氨基酸及酰基肉碱等指标,以筛查氨基酸、有机酸和脂肪酸代谢病共48种遗传代谢病,可疑阳性者进一步确诊。结果共筛查83 570例新生儿,可疑阳性2002例,确诊16例,包括氨基酸代谢病1例(高甲硫氨酸血症),有机酸代谢病6例(甲基丙二酸血症5例,戊二酸血症Ⅰ型1例),脂肪酸代谢病9例(原发性肉碱缺乏症7例、短链酰基辅酶a脱氢酶缺乏症2例)。结论应用串联质谱技术在全市范围内筛查并确诊16例病例,实现了新生儿遗传代谢病早发现早治疗的目的,有效保障儿童健康,降低出生缺陷,提高出生人口素质。     

开封地区91406例新生儿48种遗传代谢病筛查分析

目的分析和总结开封地区新生儿48种遗传代谢病筛查现状。方法利用串联质谱法对48种遗传性代谢病进行筛查和诊断。结果共计筛查新生儿血样本91 406份。其中初筛阳性2051份,初筛阳性召回1218份,筛查阳性率0.36‰筛查病种发病率0.33‰。结论开封地区新生儿遗传代谢病筛查病种发病率高于全国平均水平。通过新生儿遗传代谢病筛查,使患儿得到早期的诊断和治疗,从而提高开封地区出生人口素质。     

新生儿遗传代谢病的筛查诊断及治疗进展

遗传代谢病在新生儿早期症状大多无特异性,由于累及的部位和病情轻重差异大所以极易造成误诊.孕妇在产前应对胎儿进行遗传代谢疾病的筛查诊断,降低新生儿遗传性代谢病出生缺陷率.新生儿科医生应综合评价筛查结果及时准确地做出临床诊断,以便 对遗传代谢疾病危象期患儿采取补救措施,使他们得到进一步评估及特殊治疗.该文就新生儿遗传代谢病主要的筛查诊断及治疗方法作一综述.     

新生儿遗传代谢病串联质谱筛查带教思考

通过教学实践,使实习生和进修生熟练掌握新生儿遗传代谢病串联质谱（MS/MS）筛查的实验原理及仪器使用方法,了解应用MS/MS技术开展新生儿疾病筛查中常见氨基酸或肉碱异常及其临床意义,为新生儿遗传代谢病串联质谱筛查的大规模开展奠定坚实的基础。     

液相串联质谱在遗传代谢病高危新生儿检测中运用研究

目的研究液相串联质谱在遗传代谢病高危新生儿检测中的意义。方法留取560例临床疑似遗传代谢病新生儿的干血滤纸片,经含氨基酸、酰基肉碱内标的甲醇萃取,盐酸正丁醇衍生后,进行液相串联质谱分析。结果560例高危新生儿中检测出患儿48例,阳性率8．6％（48／560）,包括脂肪酸代谢病11例（22．9％）;氨基酸代谢病15例（31．3％）;有机酸代谢病22例（45．8％）。结论液相串联质谱可以通过检测血滤纸片中的不同酰基肉碱浓度,一次分析快速检测30多种遗传代谢病,对于遗传代谢病高危新生儿的临床诊断具有重要的价值。     

应用串联质谱技术进行新生儿遗传代谢病筛查43005例结果分析

目的探讨串联质谱技术在怀化地区新生儿遗传代谢病筛查中的应用,了解怀化地区新生儿遗传代谢病的发病率和基因突变情况。方法应用串联质谱技术对2015年3月~2016年12月怀化地区43 005例新生儿进行遗传代谢病筛查,初筛阳性者立即召回复查,复查阳性者应用气相色谱-质谱分析尿中的有机酸、氨基酸、肉碱等代谢产物,并且应用高精准度DNA质谱仪联合二代测序技术(NGS)检测阳性患儿的突变基因。结果 43 005例新生儿中初筛阳性854例,阳性率1.99%。确诊患儿14例,B-酮硫解酶缺乏症1例,2-甲基丁酰辅酶A脱氢酶缺乏症2例,希特林蛋白缺乏症1例,短链酰基辅酶A脱氢酶缺乏症3例,原发性肉碱缺乏症1例,丙酸血症1例,戊二酸血症I型1例,高苯丙氨酸血症1例,3-甲基巴豆酰羧化酶缺乏症2例,全羧化酶合成酶缺乏症1例。发病率分别是1/43005、1/21503、1/43005、1/14335、1/43005、1/43005、1/43005、1/43005、1/21503、1/43005。结论串联质谱技术在新生儿遗传代谢病筛查中可以更有效、更早地确诊这些遗传代谢病,为针对性治疗提供有效依据,为遗传代谢病的筛查开辟了新的领域。     

Rates of oxygen consumption and of anaerobic glycolysis in renal cortex and medulla of adult and new-born rats and guinea-pigs

1. Rates of oxygen uptake and of anaerobic glycolysis were estimated in slices from the renal cortex and medulla (a) of adult rats and guinea-pigs, (b) of new-born (1-, 5- and 21-day-old) rats and of guinea-pigs of 1, 12, 21, 24 and 120 hr age.2. In the adult rat, Q(O2) values for the cortex were 12.55 +/- 0.20 (22) and for the medulla: 8.56 +/- 0.17 (22) mul./hr.mg dry weight, while in the new-born rat (24 hr old) they were 10.99 +/- 0.46 (12) and 9.33 +/- 0.18 (9) mul./hr.mg dry weight respectively.3. Values for Q(CO2) (N2) (anaerobic glycolysis) in the 14 hr old new-born rat were in the renal cortex 9.65 +/- 0.35 (5) and in the medulla 7.39 +/- 0.43 (5) mul./hr.mg dry weight; while in the adult they were 2.25 +/- 0.08 (16) and 5.76 +/- 0.14 (16) mul./hr.mg dry weight, respectively.4. In the adult guinea-pig values for Q(CO2) (N2) were of the same order as in the adult rat, though the rate of O(2) uptake was for the cortex 8.12 +/- 0.22 (12) and for the medulla 5.02 +/- 0.23 (11) mul./hr.mg dry weight.5. Though the Q(O2) values in the renal cortex and medulla were smaller in the 1 hr old new-born guinea-pig, they were already increasing in the 12 hr old neonate.6. The results are discussed in the light of enzyme changes occurring during the process of maturation of the nephron as indicated by histochemical observations.     

Timing and intensity of early fevers and the development of allergies and asthma

BACKGROUND: Early childhood fevers appear to protect against later allergies and asthma. What is not known is the time in which fevers exert this effect and whether the degree of temperature increase is important. OBJECTIVE: We sought to examine the relationship between the time and degree of early fevers and later allergies and asthma. METHODS: Eight hundred thirty-five children from southeast Michigan were enrolled at birth. Clinic records from their first 2 years were abstracted for episodes of fever. At age 6 to 7 years, children underwent allergy testing. We examined fevers occurring within 6-month intervals in the first 2 years of life and outcomes at age 6 to 7 years. The primary outcome measures were allergic sensitization, asthma, asthma with allergic sensitization, and asthma without allergic sensitization. RESULTS: In the unadjusted analysis each episode of fever between 7 and 12 months of age was associated with a lower odds of allergic sensitization (odds ratio [OR], 0.71; 95% CI, 0.54-0.93) and asthma with allergic sensitization (OR, 0.43; 95% CI, 0.21-0.90) at age 6 to 7 years. Likewise, every 1 degrees C increase in the maximum temperature between 7 and 12 months was associated with a lower odds of allergic sensitization (OR, 0.77; 95% CI, 0.61-0.96) and asthma with allergic sensitization (OR, 0.62; 95% CI, 0.40-0.94). After adjusting for potential confounders, each episode of fever between 7 and 12 months was associated with a lower likelihood of asthma with allergic sensitization (adjusted OR, 0.33; 95% CI, 0.11-0.94) at age 6 to 7 years. CONCLUSIONS: Both the timing and intensity of childhood fevers appear to be important factors in the development of allergies and asthma.     

Modes of reinforcement and gender and culture of experimenter and subject: effects of "alien" and external reinforcement for Japanese and American men and women

In this study, we examined external and "alien" reinforcement (ER and AR. respectively) as a factor in social learning, and studied the combined effects of culture and reinforcement mode. A female (Experiment 1) and a male (Experiment 2) experimenters conducted experimental sessions. Both men and women, who grew up in the same culture as the experimenter, participated and performed the experimental task. A three-way interaction effect of experimenter gender, culture, and reinforcement mode was found on task performance. And the effect was more pronounced for a Japanese experimenter. A female and a male experimenters conducted Experiments 3 and 4, respectively; however participants this time were men and women who grew up in different cultures than the experimenter. Results indicated that the pattern of the subject gender and reinforcement mode interaction effect, when the experimenter was Japanese with American subjects, was exactly opposite to that when the experimenter was American. These experiments showed that AR was as effective for social learning as ER, and that the cultural backgrounds of experimenter and subject influenced AR and ER effectiveness.     

纳米水平分子成像与诊疗一体化研究进展与挑战

分子成像能以非侵入性的方式重现活体细胞的生理功能和生物学过程,提高疾病的早期和特异性诊断水平。纳米颗粒/材料具有物理性质可控性高、易于表面修饰、血液循环时间长和可功能化等优点,在疾病诊断与治疗中显示出巨大潜力。但如何阐明纳米材料多功能间的内在联系、解决其代谢及安全性等关键机制难题、实现纳米颗粒/材料多功能性到临床多功能...