目的 了解非结核分枝杆菌肺病患者营养风险、营养不足发生率,以及营养支持的应用状况,为临床实施营养干预提供参考依据。方法 对2012年10月—2014年10月在广州市胸科医院就诊的非结核分枝杆菌肺病患者(符合NRS2002评定标准)的营养风险筛查与营养支持状况进行回顾性分析。结果 402例患者中,营养不足和营养风险的发生率分别为35.8％(144/402)和66.7％(268/402);所有患者中,总体营养支持率为60.0%(241/402), 使用肠外营养与肠内营养的比例为3.2∶1;老年患者,女性患者,复治患者更是发生营养风险和营养不足的高危人群;存在营养风险患者的营养支持率为82.1%(220/268),不存在营养风险患者营养支持率为15.7%(21/134)。结论 非结核分枝杆菌肺病患者存在较高比例的营养不足和营养风险,肠外肠内营养临床应用存在不合理性;应推广和使用NRS2002营养评定方法和肠内肠外营养指南,作为实施营养支持的依据。
Objective To investigate prevalence of nutritional risk, undernutrition, and nutritional support of hospitalized patients with non-tuberculosis mycobacteria. Methods Adult patients in Guangzhou Chest Hospital from October 2012 to October 2014 were enrolled by fix-point consecutive sampling. Nutritional Risk Screening 2002 (NRS2002) was performed and nutritional support was evaluated in all patients. Results A total of 402 patients were enrolled.Overall prevalence of undernutrition was 35.8%, and nutritional risk was 66.7%. Among all the patients, the rate of nutritional support was 60.0%, including 82.1%of patients with nutritional risk and 15.7% of non-risk patients. Gerontal patients, retreatment patients and female patients are in the greater possibility of being expose to nutritional risk or undernutrition. Conclusion A large proportion of inpatients with non-tuberculosis mycobacteria were at nutritional risk or undernutrition.The application of parenteral or enteral nutritional support currently maybe inappropriate. NRS2002 and parenteral or enteral nutrition guideline are required to affording nutritional support.
目的 研究并探讨产前优生筛查对出生缺陷的干预作用。方法 于2013年1月—2015年12月,选取69 183例孕产妇的临床资料进行回顾性研究,胎儿总数为69 262例,所有孕产妇在妊娠期均进行产前优生筛查,对产前筛查结果进行分析,统计胎儿异常例数,采取相应的产前干预措施,并对未检出胎儿异常的孕产妇进行跟踪随访,观察其妊娠结局,统计出生缺陷儿娩出例数及产前筛查漏检率。结果 69 262例胎儿中,共有7 470例胎儿检出异常,其胎儿异常率为10.79%,其中2013年检出1 910例,2014年检出2 569例,2015年检出2 991例,其检出率分别为9.15%、10.70%、12.17%,最终经产前诊断检查确定为出生缺陷的胎儿共98例,均采用引产术以终止妊娠。对未检出异常的61 792例胎儿进行跟踪随访后发现,其中17例胎儿在孕期流产,有9例出生缺陷儿娩出,其出生缺陷发生率为0.1 457‰,其产前筛查漏检率为0.1 456‰。结论 在产前对孕产妇进行产前优生筛查,并根据产前筛查结果进行相应的干预,可有效检出异常胎儿,及时终止异常妊娠,有利于减少缺陷儿的出生,促进优生优育。
Objective To study and discuss intervention effects of prenatal eugenic screening in birth defects. Methods From January 2013 to December 2015, we did retrospective study on the clinical data of 69 183 cases of pregnant in which there were 69 262 fetal cases, made prenatal eugenic screening for all pregnant women. Prenatal screening results were analyzed, fetal abnormal cases were calculated. We took appropriate prenatal intervention measures, and followed up pregnant women who had no detection of fetal abnormal. We observed the pregnancy outcome, and calculated the defected childbirth cases and prenatal screening miss rates. Results 69 262 cases of fetus, a total of 7 470 cases of fetal abnormalities were detected. The fetal abnormality rate was 10.79%, of which 1 910 cases were in 2013, 2 569 cases in 2014, 2 991 cases in 2015. The detection rates respectively were 9.15%, 10.70%, 12.17%. 98 cases were determined as fetal birth defects by the final prenatal diagnosis examination, in which all adopted induction of labor to terminate pregnancy. 61 792 cases who were not detected anomalies were followed up in which 17 cases of fetus were found and had abortion during pregnancy, and 9 cases of fetal birth defects were delivered . The incidence of birth defects was 0.1 457 ‰, the prenatal screening miss rate was 0.1 456 ‰. Conclusion Pregnant women were made prenatal eugenic screening and according to the result of prenatal screening we took corresponding intervention, which is effective detect abnormal fetus. We may have timely termination of abnormal pregnancy,and reduce birth defects. It may promote human eugenics.
目的 调查住院患儿的营养风险及营养状况,探讨儿科营养风险筛查新方法的应用。方法 使用新的儿科营养风险筛查工具,对住院患儿进行营养风险筛查,根据体格测量评价儿童营养状况;与国外三种儿科营养风险筛查工具比较一致性。结果 402例住院患儿中高营养风险患儿占24.1%,营养不良的检出率为18.4%。有36.8%的患者接受营养支持,其中肠外营养支持率为23.1%,肠内营养支持率为16.7%,PN:EN为1.39:1。结论 对住院患儿采用新方法做营养风险筛查,能客观地反映住院患儿的营养风险,为临床营养支持提供依据。
Objective To investigate nutritional risk and the nutritional status in hospitalized children,and to validate the new screening tool of nutritional risk in hospitalized pediatric patients. Methods The nutritional risk of hospitalized pediatric patients was investigated using the new screening tool,and compared with other three pediatric nutritional risk screening tools;the nutritional status was assessed according to children physical measurement. Results Among 402 hospitalized children,children with high nutritional risk accounted for 24.1%.The overall prevalence of malnutrition was 18.4%.The proportion of patients receiving nutritional support was 36.8%.The rate of parenteral and enteral nutrition support was 23.1% and 16.7%,respectively.The ratio of parenteral nutrition to enteral nutrition was 1.39:1. Conclusion The new screening tool can reflect the possible nutritional risk in hospitalized pediatric patients objectively and provide the basis for clinical nutritional support.
目的 通过听力筛查,了解新生儿听力障碍的发病状况,探讨新生儿听力损失的危险因素。方法 采用耳声发射仪(OAE)和听觉脑干诱发电位仪(ABR)进行听力筛查,收集听力损失患儿,采用1:2配对的χ2检验和多因素Logistic回归分析筛选新生儿听力损失的危险因素。结果 20661例新生儿进行了听力损失初筛,初筛通过率88.99%(18386/20661);2231例进行了复筛,复筛通过率96.51%(2153/2231);对78例复筛未通过者进行ABR检查,确诊听力损失59例,听力损失发病率为2.86‰。多因素Logistic回归分析显示,新生儿头颅五官先天畸形(OR=3.435,95%CI:1.473~8009,P=0.004)和听力损失家族史(OR=2.681,95%CI:1.107~8.083,P=0.009)是新生儿轻中度听力损失的危险因素;新生儿头颅五官先天畸形(OR=2.213,95%CI:1.322~3.712,P=0.003)、NICU监护史(OR=1.524,95%CI:1.358~1.714,P=0.005)和听力损失家族史(OR=8.954,95%CI:1.783~45.128,P=0.008)是新生儿重度和极重度听力损失的高危因素。结论 母亲羊水异常、新生儿头颅五官先天畸形、NICU监护史和听力损失家族是新生儿听力损失的高危因素,应采取普遍筛查措施早期发现并给予相应干预,减少新生儿听力损失的发生率。
Objective To explore the influencing factors of hearing loss in newborns. Methods through screening, screening, diagnostic evaluation of 3 procedures to collect hearing loss in children, with 1:2 matching test and multivariate Logistic regression analysis in screening neonatal hearing loss risk factors. Results 20,661 cases of hearing loss in newborn screening, screening pass rate 88.99% (18386/20661); 2231 cases were re-screened for rescreening pass rate 96.51% (2153/2231); 78 patients who did not pass for rescreening ABR examination, diagnosed 59 cases of hearing loss, hearing loss incidence rate 2.86 ‰. Logistic regression analysis showed that neonatal facial congenital malformations (OR=3.435, 95%CI: 1.473~8009, P=0.004) and a family history of hearing loss (OR=2.681, 95%CI: 1.107~8.083, P=0.009) neonates with mild to moderate hearing loss is a risk factor; Neonatal facial congenital malformations (OR=2.213, 95%CI: 1.322~3.712, P=0.003), NICU care history (OR=1.524, 95%CI:1.358~1.714, P=0.005) and a family history of hearing loss (OR=8.954, 95%CI: 1.783~45.128, P=0.008) in neonates with severe and very severe hearing loss risk factors. Conclusion amniotic fluid anomalies neonatal cranial features mother, congenital malformation, NICU care history and hearing loss family is newborn hearing loss risk factors, should be taken to universal screening for early detection and appropriate intervention measures, reduce the incidence of neonatal hearing loss.
目的 了解惠州地区无偿献血者中抗-Mur及Mur抗原的频率,为指导临床输血及建立稀有血型红细胞库提供依据。方法 用微板盐水法和凝聚胺法筛查8686名自愿无偿献血者血浆中的抗-Mur,再用微柱凝胶卡方法进一步确认;采用人源抗-Mur血清检测1119名献血者Mur抗原的红细胞表型。结果 无偿献血者血清中抗-Mur频率为0.35%(31/8686),男女间的差异有统计意义(P<0.05),女性高于男性;Mur抗原阳性频率为5.61％(63／1119)。结论 惠州地区无偿献血者中抗-Mur频率较高,而Mur抗原阳性则相对较常见,在输血前检查项目中增加Mur血型抗原抗体检测是非常必要的。
Objective To investigate the frequency of anti-Mur and Mur antigen among blood donors in Huizhou city and provide data for guiding clinical transfusion and establishing red blood cells library of rare blood type. Method Micro-plate brine method and polybrene method are used to screen anti-Mur from 8686 blood donors. DG Gel Coombs cards are used to confirm the result. Human anti-Mur serum is used to screen the phenotypes from other 1119 blood donors. Results The frequency of anti-Mur was 0.35%(31/8686). The differences between men and women had statistical significance (P<0.05), of which women were higher than men. The frequency of Mur antigen positive was 5.61％(63／1119). Conclusion The blood donors in Huizhou showed a high frequency of anti-Mur and a relatively high frequency of Mur antigen, so it is very necessary to add test method of Mur blood group antigen and antibody before the donors carry out the blood transfusion process.
目的 探讨糖化血红蛋白(HbA1c)联合超敏C反应蛋白(hs-CRP)在筛查妊娠期糖尿病(GDM)的临床意义。方法 选择2013年9月1日—2014年8月31日在我院妇产科孕期产前检查及分娩的孕妇,根据糖耐量试验(OGTT)、HbA1c和hs-CRP检查,筛查出92例孕妇为GDM组,并随机抽取OGTT正常的健康孕妇90例为NGT组,25例健康孕龄女性为对照组,分析3组FPG、HbA1c、hs-CRP及OGTT结果。结果 GDM组OGTT、HbA1c、hs-CRP高于NGT组和对照组,差异有统计学意义(P<0.01),NGT组与对照组比较,HbA1c、hs-CRP浓度差异无统计学意义(P>0.05),但3组FPG差异无统计学意义(P>0.05),Pearson相关分析显示,HbA1c与hs-CRP呈正相关(r=0.79,P<0.01)。结论 GDM患者HbA1c、hs-CRP水平升高,HbA1c联合hs-CRP可能成为GDM筛查的良好指标。
Objective To evaluate the feasibility of combination of glycosylated hemoglobin A1c(HbA1c) and high-sensitivity CRP in screening of gestational diabetes mellitus(GDM). Methods According to glucose tolerance test(OGTT),HbA1c and hs-CRP during 24~28 pregnant weeks,92 women with GDM (GDM group) and 90 normal pregnant women (NGT group) were enrolled in this study with another 25 women of child-bearing age as the control group. The results of FBG, OGTT, HbA1c and hs-CRP among three groups were analyzed. Results OGTT, HbA1c and hs-CRP level in GDM group were higher than that in NGT group and control group (P<0.05), but there were no significant differences of the level of FPG of 3 groups(P>0.05).Compare with NGT group and control group, There were no significant differences of the level of HbA1c and hs-CRP(P>0.05). Pearson correlation analysis showed that HbA1c had significant association with hs-CRP(r=0.79, P<0.01). Conclusion HbA1c and hs-CRP level in GDM group were increased, HbA1c combined with hs-CRP could be of some value in screening of GDM.
目的 了解惠州市新生儿眼病的发病状况,探讨新生儿眼病筛查的临床模式。方法 回顾分析我院在2014年1月—2015年3月950例(1900只眼)高危新生儿的眼病筛查资料。结果 950例(1900只眼)新生儿中,检查出新生儿眼病10种,共200例,检出率21.05%;其中家族性渗出性视网膜病变(FEVR)5例(0.526%)、永存原始玻璃体增生症(PHPV)1例(0.105%)、先天性白内障1例(0.105%)、视网膜出血55例(5.789%)、生理性大视杯3例(0.316%)、新生儿鼻泪管阻塞5例(0.526%)、新生儿结膜炎100例(10.53%)、皮样脂肪瘤2例(0.211%)、新生儿泪囊黏液囊肿2例(0.211%)、早产儿视网膜病变26例(2.737%)。结论 新生儿眼病在临床中并不少见,而且部分眼病是可以早期筛查、早期治疗以避免盲的。
Objective To study the incidence of newborn eye diseases and to explore the clinical strategies for the screening of newborn ocular diseases. Methods A retrospective analysis was conducted on 950 newborns from January 2014 to March 2015. Results Among the 950 newborns who were enrolled the screening program,10 different eye diseases(involving 200 cases)were detected,with a prevalence of 21.05%. The eye diseases included familial exudative vitreoretinopathy in 5 cases(0.526%),persistent hyperplastic primary vitreous in 1 case(0.105%),congenital cataract in 1 case(0.105%),retinal hemorrhage in 55 cases(5.789%), physiologic large cup in 3 cases(0.316%),congenital lacrimal duct obstruction in 5 cases(0.526%),neonatal conjunctivitis in 100 cases(10.53%),dermolipoma in 2 cases(0.211%),congenital lacrimal sac mucocele in 2 cases(0.211%),retinopathy of prematurity in 26 cases(2.737%). Conclusion Neonatal eye diseases are not uncomon in clinical, and a part of the eye diseases can be early screening and early treatment to avoid blindness.
目的 分析串联质谱技术筛查高危新生儿遗传代谢性疾病的价值。方法 于2023年1月—2024年3月，选择入住本院新生儿科的995例高危新生儿作为研究对象，采用串联质谱技术进行筛查，对筛查结果进行分析。结果 本研究期内995例新生儿初筛查阳性83例，最终确诊5例，假阳性78例，真阴性912例，阳性率8.34%（83/995），真阳性率6.02%（5/83）。确诊病例包括尿素循环障碍及高氨血症4例（其中2例经全外显子组核心家系测序分析确诊鸟氨酸氨甲酰转移酶缺乏症，基因变异来源为新发），枫糖尿症1例（基因确诊，变异来源为父亲及母亲）。结论 在高危新生儿遗传代谢疾病的筛查中，运用串联质谱技术进行筛查，及时有效进行专项检查，早期诊断遗传代谢性疾病，及时控制病情进展，降低死亡率和致残率，从而提高人口素质及生存质量，同时，对遗传代谢病的高危家庭开展咨询，指导优生优育。
Objective To analyze the value of tandem mass spectrometry in screening genetic metabolic diseases in high-risk neonates．Methods From January 2023 to March 2024，a total of 995 high-risk neonates admitted to the neonatal department of our hospital were selected as the research subjects，tandem mass spectrometry was used for screening，and the screening results were analyzed．Results During the study period，83 of the 995 neonates were positive in the initial screening，5 cases were finally confirmed，78 cases were false positives，and 912 cases were true negatives，with a positive rate of 8.34%（83/995）and a true positive rate of 6.02%（5/83）．The confirmed cases included 4 cases of urea cycle disorder and hyperammonemia（2 cases were confirmed with ornithine carbamyltransferase deficiency by whole exome core family sequencing analysis，and the source of the gene variant was de novo），and 1 case of maple syrup urine disease（genetic diagnosis，the source of the mutation was father and mother）．Conclusions In the screening of genetic metabolic diseases in high-risk neonates，the use of special examinations in tandem mass spectrometry can timely and effectively diagnosis genetic metabolic diseases，therefore timely control the progression of disease and reduce mortality and disability rates，consequently improve the quality of population and life．At the same time，we can provide guidance for good birth and good parenting by carrying out consultation to high-risk genetic metabolic diseases families．
