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．