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 观察Bax抑制因子(Bax-inhibiting peptides,BIP)对肠上皮细胞的保护作用,并探讨其作用机制。方法 建立1日龄新生大鼠的坏死性小肠结肠炎模型。BIP于建模前腹腔内注射,建模后分别检测各组肠组织病理,并分别用流式细胞仪检测各组肠细胞凋亡率,western blot法检测bax下游凋亡蛋白细胞色素C、caspase 9和caspase 3含量。结果 与NEC组及Bax10 μg组比较,bax50 μg和100 μg可减轻肠上皮损伤,减少肠细胞凋亡率,降低bax下游凋亡蛋白细胞色素C、caspase9和caspase3含量。结论 一定剂量的Bax抑制肽可通过降低活性Caspase-3及CytC蛋白释放,保护线粒体膜,抑制肠上皮细胞调亡,发挥对肠上皮细胞的保护作用。

Objective To investigate the protective effects of Bax-inhibiting peptides(BIP) on intestinal epithelial cells and to explore its mechanism. Methods The model of neonatal necrotizing enterocolitis in 1 day neonatal rats were established. Before establishing the model, BIP was intraperitoneal injected to the rats. The pathological of intestinal tissue were detected respectively, the intestinal cell apoptosis rate were detected by flow cytometry, the levels of downstream apoptosis proteins of Bax were detected by Western blotting respectively. Results Compared to NEC and Bax10μg group, bax50μg and 100 μg can significantly reduce the intestinal epithelial damage and intestinal cell apoptosis rate and can decrease the levels of cytochrome C, caspase-9 and caspase-3, downstream apoptosis proteins of Bax,significantly. Conclusion A certain dose of Bax-inhibiting peptides can protect the mitochondrial membrane, inhibit the apoptosis of intestinal epithelial cells by reducing the level of Caspase-3 and CytC and play a protective effect on intestinal epithelial cells.

      目的   探讨神经元型一氧化氮合酶（nNOS）在抑制剂N-硝基-左旋精氨酸甲酯（L-NAME）抑制作用下与新生鼠胃肠道疾病的相关性研究，以进一步研究婴儿肥厚性幽门狭窄（IHPS）等疾病的致病机制。方法   对40只成熟雌性wistar大鼠随机均分4组，怀孕后予怀孕母鼠灌胃，对照组给予生理盐水，低剂量组、中剂量组、高剂量组分别给予L-NAME 60、300、600 mg/（kg·d）L-NAME。新生鼠皮下注射方式，予对照组皮下注射生理盐水，在低剂量组、中剂量组、高剂量组皮下注射L-NAME 25、125、250 mg/（kg·d）L-NAME。统计分析新生鼠幽门中的nNOS表达量、体质量增长情况、胃潴留情况、幽门肌层厚度。结果 （1）低剂量组、中剂量组、高剂量组新生鼠幽门肌层厚度在出生后第1、7、14日龄高于对照组，但组间比较差异无统计学意义（P＞0.05）。（2）与对照组相比，低剂量组、中剂量组、高剂量组的新生鼠出生后第1周体质量增加量更少，胃潴留更明显（P＞0.05）；在出生后的第2周各组体质量增加量差异无统计学意义（P＞0.05）。（3）新生鼠出生后第14天，中剂量组的胃体积大于低剂量组，但低剂量组和对照组之间、中剂量组和高剂量组之间比较差异无统计学意义（P＞0.05）。（4）新生鼠生后第1天，幽门中nNOS的表达被L-NAME以剂量依赖的方式被抑制，随着新生鼠日龄的增长，这种效应逐渐消失。（5）在不同剂量L-NAME的作用下，新生鼠幽门中nNOS表达量、趋势在不同时间点不同。结论 （1）nNOS可以导致新生鼠胃潴留、幽门梗阻，与IHPS相关症状之间存在相关性，但可能不是IHPS病因的唯一分子机制。（2）在新生鼠胃、幽门组织中，nNOS的表达量可以通过负反馈调节机制调节。（3）nNOS表达量上调可能有助于幽门舒张，但可能无法完全逆转IHPS中幽门的进一步肥厚和阻塞。

    Objective  To explore the effect of nNOS on the early postnatal pylorus of neonatal rats under the inhibition of the inhibitor N-nitro-L-arginine methyl ester hydrochloride（L-NAME），in order to further investigate the pathogenic mechanism of infantile hypertrophic pyloric stenosis（IHPS）．Methods  Pregnant female mice were grouped randomly and administered by gavage，with the control group receiving physiological saline，the low-dose，medium-dose and high-dose groups  receiving different doses of L-NAME．For the neonatal rats，the control group was subcutaneously injected with physiological saline，while the low-dose group，medium-dose group，and high-dose group were subcutaneously injected with different doses of L-NAME．The expression of nNOS in the pylorus，weight gain，gastric retention，and pyloric muscle thickness of newborn  rats were statistically analyzed．Results   (1) The thickness of the pyloric muscle layer in the low-dose group，medium-dose group，and high-dose group of newborn rats was higher than that in the control group on the 1st，7th，and 14th day after birth，but there was no significant difference．（2）Compared with the control group，the neonatal rats in the low-dose group，the middle-dose group and the high-dose group gained less weight in the first week after birth，and the gastric retention was more significant．There was no significant difference in weight gain among the groups in the second week after birth．（3）On the 14th day after birth，the gastric volume of the medium-dose group was larger than that of the low-dose group，but there was no statistical difference between the low-dose group and the control group，or between the medium-dose group and the high-dose group．（4）On the first day after birth，the expression of nNOS in the pylorus of neonatal rats was significantly inhibited by L-NAME with dose-dependence，and this effect gradually disappeared with increasing age of neonatal rats．(5) Under the action of different doses of L-NAME，the expression level and trend of nNOS in the pylorus of neonatal mice vary at different time points．Conclusions   (1) nNOS can cause gastric  retention and pyloric obstruction in newborn rats，which is related to IHPS related symptoms，but may not be the only molecular mechanism of IHPS etiology．(2) The expression level of nNOS in the pyloric tissue of newborn mice can be regulated through a negative feedback regulatory mechanism．(3) Upregulation of nNOS expression may contribute to pyloric dilation，but may not completely  reverse thickening and obstruction of the pylorus in IHPS．

       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．