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Indomethacin Prophylaxis Is Associated with Reduced Risk of Intraventricular Hemorrhage in Extremely Preterm Infants Born in the Context of Amniotic Infection Syndrome. 吲哚美辛预防与羊膜感染综合征下极早产儿脑室内出血风险降低相关
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 DOI: 10.1159/000529140
Kathrin Hanke, Ingmar Fortmann, Alexander Humberg, Kirstin Faust, Angela Kribs, Sebastian Prager, Ursula Felderhoff-Müser, Marcus Krüger, Matthias Heckmann, Anja Jäger, Oliver Andres, Juliane Spiegler, Christoph Härtel, Egbert Herting, Wolfgang Göpel

Background: Amniotic infection syndrome (AIS) with perinatal inflammation may increase the susceptibility to intraventricular hemorrhage (IVH) in preterm infants. Given its anti-inflammatory and ductus arteriosus constricting capacities, we hypothesized that prophylactic administration of indomethacin reduces the incidence, severity, and consequences of IVH in the context of perinatal inflammation.

Methods: We evaluated data of infants born between 2009 and 2020 of 22 + 0-25+6 weeks of gestation from 68 German Neonatal Network centers. The effect of indomethacin prophylaxis on outcomes was analyzed in univariate analyses and multivariate regression models including a subgroup of infants with available data on 5-year follow-up.

Results: 4760 infants were included with a median gestational age of 24.6 SSW [interquartile range (IQR) 24.1w-25.2w] and a birth weight of 640 g [IQR 550-750 g]. 1767/4760 (37.1%) preterm infants were born in the context of AIS and 527/4760 (11.1%) received indomethacin prophylaxis. AIS infants receiving prophylactic indomethacin had lower rates of IVH (32.7% vs. 36.9%, p = 0.04), IVH III/IV (9.7% vs. 16.0%, p = 0.02) and the combined outcome of severe IVH or death (15.9% vs. 23.2%, p = 0.01) as compared to infants without prophylaxis. Multivariate logistic regression analyses confirmed our observations. In a subgroup analysis of 730 preterm infants at 5 years of age, we did not find any correlation between prophylactic indomethacin and intelligence quotient <70 or cerebral palsy.

Conclusions: Our observational data demonstrate that prophylactic indomethacin is associated with a reduced risk of IVH in the highly vulnerable subgroup of preterm infants <26 weeks of gestation born from AIS.

背景:羊膜感染综合征(AIS)伴围产期炎症可增加早产儿脑室内出血(IVH)的易感性。鉴于其抗炎和收缩动脉导管的能力,我们假设在围产期炎症的情况下,预防性使用吲哚美辛可以降低IVH的发生率、严重程度和后果。方法:我们评估了来自68个德国新生儿网络中心的2009年至2020年出生的22 + 0-25+6周妊娠婴儿的数据。采用单因素分析和多因素回归模型分析吲哚美辛预防对结局的影响,包括一组有5年随访数据的婴儿亚组。结果:纳入4760例婴儿,中位胎龄为24.6 SSW[四分位间距24.1w-25.2w],出生体重为640 g[四分位间距550-750 g]。1767/4760(37.1%)早产儿在AIS背景下出生,527/4760(11.1%)接受了吲哚美辛预防。接受预防性吲哚美辛治疗的AIS婴儿IVH发生率(32.7%比36.9%,p = 0.04)、IVH III/IV发生率(9.7%比16.0%,p = 0.02)以及严重IVH或死亡的综合结局(15.9%比23.2%,p = 0.01)均低于未接受预防的婴儿。多元逻辑回归分析证实了我们的观察结果。在对730名5岁早产儿的亚组分析中,我们没有发现预防性吲哚美辛与智商[lt;70]或脑瘫之间的任何相关性。结论:我们的观察数据表明,预防性吲哚美辛与高度易感亚组(妊娠26周的AIS早产儿)IVH风险降低相关。
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引用次数: 0
Maternal, Perinatal, and Postnatal Predisposing Factors of Hearing Loss in Full-Term Children: A Matched Case-Control Study. 足月儿童听力损失的母体、围产期和产后易发因素:匹配病例对照研究。
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 Epub Date: 2023-06-15 DOI: 10.1159/000530646
Pei-Chen Tsao, Hung-Chih Lin, Hsiao-Yu Chiu, Yu-Chia Chang

Introduction: Studies on risk factors for childhood hearing loss (HL) are usually based on questionnaires or small sample sizes. We conducted a nationwide population-based case-control study to comprehensively analyze the maternal, perinatal, and postnatal risk factors for HL in full-term children.

Methods: We retrieved data from three nationwide databases related to maternal characteristics, perinatal comorbidities, and postnatal characteristics and adverse events. We used 1:5 propensity score matching to include 12,873 full-term children with HL and 64,365 age-, sex-, and enrolled year-matched controls. Conditional logistic regression was used to evaluate the risk factors for HL.

Results: Among the various maternal factors, maternal HL (adjusted odds ratio [aOR]: 8.09, 95% confidence interval [95% CI]: 7.16-9.16) and type 1 diabetes (aOR: 3.79, 95% CI: 1.98-7.24) had the highest odds of childhood hearing impairment. The major perinatal risk factors for childhood hearing impairment included ear malformations (aOR: 58.78, 95% CI: 37.5-92.0) and chromosomal anomalies (aOR: 6.70, 95% CI: 5.25-8.55), and the major postnatal risk factors included meningitis (aOR: 2.08, 95% CI: 1.18-3.67) and seizure (aOR: 3.71, 95% CI: 2.88-4.77). Other factors included acute otitis media, postnatal ototoxic drug use, and congenital infections.

Conclusions: Many risk factors for childhood HL identified in our study are preventable, such as congenital infection, meningitis, ototoxic drug use, and some maternal comorbidities. Accordingly, more effort is required to prevent and control the severity of maternal comorbidities during pregnancy, initiate genetic diagnostic evaluation for high-risk children, and aggressive screening for neonatal infections.

引言:对儿童听力损失(HL)危险因素的研究通常基于问卷调查或小样本量。我们在全国范围内进行了一项基于人群的病例对照研究,以全面分析足月儿童HL的孕产妇、围产期和产后危险因素。方法:我们从三个全国性数据库中检索与产妇特征、围产期合并症、产后特征和不良事件相关的数据。我们使用1:5倾向评分匹配,包括12873名患有HL的足月儿童和64365名年龄、性别和注册年份匹配的对照。结果:在各种母体因素中,母体HL(调整比值比[aOR]:8.09,95%可信区间[95%CI]:7.16-9.16)和1型糖尿病(aOR:3.79,95%CI:1.98-7.24)发生儿童听力损伤的几率最高。儿童听力障碍的主要围产期危险因素包括耳朵畸形(aOR:58.78,95%CI:37.5-92.0)和染色体异常(aOR:6.70,95%CI:5.25-8.55),产后主要危险因素包括脑膜炎(aOR:2.08,95%CI:1.18-3.67)和癫痫发作(aOR:3.71,95%CI:2.88-4.77),以及先天性感染。结论:我们研究中确定的儿童HL的许多危险因素是可以预防的,如先天性感染、脑膜炎、耳毒性药物使用和一些母体合并症。因此,需要做出更多努力来预防和控制妊娠期间母体合并症的严重程度,启动对高危儿童的基因诊断评估,并积极筛查新生儿感染。
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引用次数: 1
Graphic Intelligent Diagnosis of Hypoxic-Ischemic Encephalopathy Using MRI-Based Deep Learning Model. 基于mri深度学习模型的缺氧缺血性脑病的图形智能诊断。
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 DOI: 10.1159/000530352
Tian Tian, Tongjia Gan, Jun Chen, Jun Lu, Guiling Zhang, Yiran Zhou, Jia Li, Haoyue Shao, Yufei Liu, Hongquan Zhu, Di Wu, Chengcheng Jiang, Jianbo Shao, Jingjing Shi, Wenzhong Yang, Wenzhen Zhu

Introduction: Heterogeneous MRI manifestations restrict the efficiency and consistency of neuroradiologists in diagnosing hypoxic-ischemic encephalopathy (HIE) due to complex injury patterns. This study aimed to develop and validate an intelligent HIE identification model (termed as DLCRN, deep learning clinical-radiomics nomogram) based on conventional structural MRI and clinical characteristics.

Methods: In this retrospective case-control study, full-term neonates with HIE and healthy controls were collected in two different medical centers from January 2015 to December 2020. Multivariable logistic regression analysis was implemented to establish the DLCRN model based on conventional MRI sequences and clinical characteristics. Discrimination, calibration, and clinical applicability were used to evaluate the model in the training and validation cohorts. Grad-class activation map algorithm was implemented to visualize the DLCRN.

Results: 186 HIE patients and 219 healthy controls were assigned to the training, internal validation, and independent validation cohorts. Birthweight was incorporated with deep radiomics signatures to create the final DLCRN model. The DLCRN model achieved better discriminatory power than simple radiomics models, with an area under the curve (AUC) of 0.868, 0.813, and 0.798 in the training, internal validation, and independent validation cohorts, respectively. The DLCRN model was well calibrated and has clinical potential. Visualization of the DLCRN highlighted the lesion areas that conformed to radiological identification.

Conclusion: Visualized DLCRN may be a useful tool in the objective and quantitative identification of HIE. Scientific application of the optimized DLCRN model may save time for screening early mild HIE, improve the consistency of HIE diagnosis, and guide timely clinical management.

由于复杂的损伤模式,MRI表现的异质性限制了神经放射科医生诊断缺氧缺血性脑病(HIE)的效率和一致性。本研究旨在开发和验证基于常规结构MRI和临床特征的HIE智能识别模型(称为DLCRN,深度学习临床放射组学nomogram)。方法:采用回顾性病例对照研究,收集2015年1月至2020年12月在两家不同医疗中心就诊的HIE足月新生儿和健康对照组。基于常规MRI序列和临床特征,采用多变量logistic回归分析建立DLCRN模型。在培训和验证队列中,采用鉴别、校准和临床适用性来评估模型。采用分级激活图算法实现DLCRN的可视化。结果:186名HIE患者和219名健康对照者被分配到训练、内部验证和独立验证队列。出生体重与深度放射组学特征相结合,以创建最终的DLCRN模型。DLCRN模型的鉴别能力优于简单放射组学模型,在训练组、内部验证组和独立验证组的曲线下面积(AUC)分别为0.868、0.813和0.798。DLCRN模型校正良好,具有临床应用潜力。DLCRN的可视化显示了符合放射学鉴定的病变区域。结论:可视化DLCRN可作为客观定量鉴别HIE的有效工具。科学应用优化后的DLCRN模型,可以节省早期轻度HIE筛查的时间,提高HIE诊断的一致性,指导临床及时管理。
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引用次数: 0
Symptomatic Postnatal Cytomegalovirus Infection in Less than 32-Week Preterm Infants: 13-Year Retrospective Multicenter Case-Control Study. 不到32周早产儿的症状性产后巨细胞病毒感染:13年回顾性多中心病例对照研究。
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 Epub Date: 2023-06-30 DOI: 10.1159/000529241
Sarah Jane Corpuz Tapawan, Barbara Bajuk, Ju Lee Oei, Pamela Palasanthiran

Introduction: Reports on the influence of postnatal cytomegalovirus (pCMV) infection in neonatal outcomes of preterm babies vary while guidance on management including screening is lacking. We aim to determine the association between symptomatic pCMV infection and chronic lung disease (CLD) and mortality in preterm infants born less than 32 weeks gestation.

Methods: We used data from the Neonatal Intensive Care Units' (NICUS) population-based prospective data registry of infants in 10 neonatal units in New South Wales and the Australian Capital Territory, Australia. De-identified perinatal and neonatal outcome data for 40,933 infants were examined. We identified 172 infants <32 weeks gestation with symptomatic pCMV infection. Each was matched with one control infant.

Results: Infants with symptomatic pCMV infection were 2.7 times more likely to develop CLD (OR 2.7, 95% CI: 1.7-4.5) and spend 25.2 days more in hospital (95% CI: 15.2-35.2). Seventy-five percent (129/172) of infants with symptomatic pCMV were extremely preterm (<28 weeks). The mean age of symptomatic pCMV diagnosis was 62.5 ± 20.5 days or 34.7 ± 3.6 weeks-corrected gestational age. Ganciclovir treatment did not decrease CLD and death. CLD was 5.5 times predictive of death in patients with symptomatic pCMV infection. Symptomatic pCMV infection did not influence mortality nor increase neurologic impairment.

Conclusion: Symptomatic pCMV is a modifiable factor affecting extreme preterm infants with significant impact on CLD. Prospective study on screening and treatment will help unveil potential benefits in our already at-risk preterm infants.

引言:关于出生后巨细胞病毒(pCMV)感染对早产儿新生儿结局的影响的报道各不相同,但缺乏包括筛查在内的管理指导。我们的目的是确定有症状的pCMV感染与慢性肺病(CLD)和妊娠期小于32周的早产儿死亡率之间的关系。方法:我们使用了来自新生儿重症监护室(NICUS)基于人群的前瞻性数据登记处的数据,这些数据来自新南威尔士州和澳大利亚首都地区的10个新生儿病房。对40933名婴儿的未鉴定围产期和新生儿结局数据进行了检查。我们鉴定了172名婴儿<;妊娠32周出现症状性pCMV感染。每个婴儿与一个对照婴儿相匹配。结果:有症状的pCMV感染的婴儿发生CLD的可能性是其他婴儿的2.7倍(OR 2.7,95%CI:1.7-4.5),住院时间比其他婴儿多25.2天(95%CI:15.2-35.2)。75%(129/172)的有症状pCMV的婴儿是极早产儿(<28周)。症状性pCMV诊断的平均年龄为62.5±20.5天或34.7±3.6周的校正胎龄。Ganciclovir治疗并没有减少CLD和死亡。CLD是有症状的pCMV感染患者死亡的5.5倍。有症状的pCMV感染不会影响死亡率,也不会增加神经损伤。结论:症状性pCMV是影响极早产儿的一个可改变因素,对CLD有显著影响。筛查和治疗的前瞻性研究将有助于揭示我们已经面临风险的早产儿的潜在益处。
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引用次数: 0
Breastfeeding Success and Newborn Health before and during the COVID-19 Pandemic:A Single-Centre Comparative Study. 在COVID-19大流行之前和期间母乳喂养成功与新生儿健康:一项单中心比较研究
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 DOI: 10.1159/000530080
Alexandre Lapillonne, Christine Pichon, Benoit Renaudin, Muriel Nicloux, Virginie Rigourd, Yves Ville

Introduction: Due to the SARS-CoV-2 pandemic, adjustments in patient and visitor traffic were made in hospitals to limit viral exposure. The primary objective of our study was to compare the breastfeeding success of healthy newborns in a maternity ward during the 2020 lockdown period compared with the same period in the previous year.

Material and methods: Single-center comparative study based on prospectively collected data. All neonates born alive, from a single pregnancy, and with a gestational age greater than 36 weeks were considered for this study.

Results: 309 infants born in 2020 and 330 born in 2019 were included. Among women who desired to exclusively breastfeed, the rate of exclusive breastfeeding at discharge from the maternity ward was higher in 2020 than in 2019 (85 vs. 79%; p = 0.078). After logistic regression analysis adjusted for potential confounders (i.e., maternal BMI, parity, mode of delivery, gestational age, and size at birth), study period remained significantly and independently associated with exclusive breastfeeding at discharge (OR [95% CI] = 1.645 [1.005; 2.694]; p = 0.046). Newborns born in 2020 were less likely to have weight loss ≥10% than those born in 2019 (OR [95% CI] = 2.596 [1.148; 5.872]; p = 0.017) but had similar need for phototherapy (p = 0.41).

Conclusion: The success of exclusive breastfeeding during the 2020 lockdown period was increased compared with the same period in 2019.

导论:由于SARS-CoV-2大流行,医院对患者和访客流量进行了调整,以限制病毒暴露。我们研究的主要目的是比较2020年封锁期间产科病房中健康新生儿的母乳喂养成功率与前一年同期的比较。材料和方法:基于前瞻性数据的单中心比较研究。本研究考虑了所有单次妊娠且胎龄大于36周的活产新生儿。结果:纳入2020年出生的婴儿309例,2019年出生的婴儿330例。在希望进行纯母乳喂养的妇女中,2020年从产科病房出院时的纯母乳喂养率高于2019年(85%对79%;P = 0.078)。经logistic回归分析校正了潜在的混杂因素(即母亲体重指数、胎次、分娩方式、胎龄和出生时体型)后,研究期间与出院时纯母乳喂养仍然存在显著且独立的相关性(OR [95% CI] = 1.645 [1.005;2.694);P = 0.046)。2020年出生的新生儿体重下降≥10%的可能性低于2019年出生的新生儿(OR [95% CI] = 2.596 [1.148;5.872);P = 0.017),但对光疗的需求相似(P = 0.41)。结论:与2019年同期相比,2020年封城期间纯母乳喂养成功率有所提高。
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引用次数: 0
Effects of Catecholamines on Blood Flow in Preterm Infants: A Subanalysis of PICC-MBF Trial. 儿茶酚胺对早产儿血流的影响:PICC-MBF试验的亚分析。
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 Epub Date: 2023-09-01 DOI: 10.1159/000532017
Akio Ishiguro, Kazuhiko Kabe

Introduction: This study evaluated the correlation between skin blood flow and systemic blood flow and whether skin blood flow can determine the circulatory effects of dopamine and dobutamine on blood flow in very low birth weight (VLBW) infants.

Methods: This study was a subanalysis of the PICC-MBF randomized controlled trial. The correlation between skin blood flow and echocardiographic findings was examined. Changes in skin blood flow and blood pressure before and after initiation or dose increase of dopamine and dobutamine were also evaluated.

Results: Two hundred and thirty-four participants underwent echocardiography. Skin blood flow was significantly correlated with supra vena cava (SVC) flow (r = 0.31, p < 0.001). Receiver operator characteristic analysis revealed that skin blood flow <17 mL/min effectively detected SVC flow <41 mL/min (area under the curve = 0.83, p < 0.001). Dobutamine significantly increased skin blood flow after initiation or dose increase (p = 0.033) without increasing blood pressure. However, dopamine significantly increased both skin blood flow (p = 0.010) and blood pressure (p < 0.001).

Conclusions: Our findings indicated that skin blood flow could be used as a surrogate marker of systemic blood flow in VLBW infants and revealed differences in the effects of dopamine and dobutamine on circulation.

本研究评估了极低出生体重(VLBW)婴儿皮肤血流量与全身血流量的相关性,以及皮肤血流量是否可以决定多巴胺和多巴酚丁胺对血流量的循环作用。方法:本研究是PICC-MBF随机对照试验的亚分析。检查皮肤血流量与超声心动图结果的相关性。同时评估了多巴胺和多巴酚丁胺开始或剂量增加前后皮肤血流量和血压的变化。结果:234名参与者接受了超声心动图检查。皮肤血流量与腔静脉上(SVC)血流显著相关(r = 0.31, p <0.001)。受试者算子特征分析显示,皮肤血流量17 mL/min有效检测SVC血流量41 mL/min(曲线下面积= 0.83,p <0.001)。多巴酚丁胺在起始或剂量增加后显著增加皮肤血流量(p = 0.033),但没有升高血压。然而,多巴胺显著增加皮肤血流量(p = 0.010)和血压(p <0.001)。结论:我们的研究结果表明,皮肤血流量可以作为VLBW婴儿全身血流量的替代标志物,并揭示了多巴胺和多巴酚丁胺对循环的影响的差异。
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引用次数: 0
Cerebellar Biometry in Preterm Infants. 早产儿的小脑生物测量。
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2023-01-01 DOI: 10.1159/000530877
Shabih Manzar
Dear Editor, I read with interest the article by Steiner et al. [1]. When comparing the z-score (ZS) for cerebellar measurements, we note that the interquartile range (IQR) has a positive ZS in the local controls for the height of the vermis and anteroposterior diameter (apVermis) measurements, while transverse cerebellar diameter (tCD) remained negative (−2.17 to −0.02). On correlation analysis, we note that for local controls, only apVermis ZS was significantly correlated with cognitive, language, and motor composite scales. On multivariable linear regression analysis, we see again that apVermis ZS was significant for the motor composite scale but not for the cognitive or language scale. These are significant findings. The cerebellum is chiefly associated with motor skills, visualmotor coordination, and balance; however, numerous developmental dyslexia theories have shown that decreased cerebellocortical connectivity and anomalies in the cerebellum structure contribute to language development [2]. Similarly, the cerebellum has been speculated to have a role in cognitive capabilities [2], but the international consensus from experts remains highly inferential [3]. In describing the possible reasons for reduced cerebellar sizes, Steiner et al. [1] stated that extremely premature (EP) infants have a vulnerable cerebellum, leading to cerebellar underdevelopment and rapid growth in late gestation, making the cerebellum particularly susceptible to poor growth. We would like to add another plausible reason for poor cerebral growth in EP infants. The cerebellum is supplied by the basilar artery, formed from the right and left vertebral arteries. The left vertebral artery arises from the left subclavian, which is post-ductal. EP infants invariably have patent ductus arteriosus (PDA), which could steal blood from reaching certain parts of the brain during diastole. This observation was shown recently by Lemmers et al. [4]. They studied a cohort of 90 preterm infants at <30 weeks of gestational age with PDA who underwent surgical ductal closure during 10 years and concluded that prolonged duration of a PDA was associated with reduced cerebellar growth and suboptimal neurodevelopmental outcome. This observation was also observed by Steiner et al. [1]. The intraventricular hemorrhage (IVH) group has more PDA ligation than the local controls, 10.8% versus 6.9%. In conclusion, considering Steiner et al. [1], more research is needed to investigate how cerebellar growth is compromised in EP infants with intraventricular hemorrhage and how it affects language and cognition.
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引用次数: 0
Front & Back Matter 正面和背面
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2022-12-01 DOI: 10.1159/000528547
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引用次数: 0
Molecular Genetic Analysis of Newborns with Congenital Microcephaly 新生儿先天性小头畸形的分子遗传学分析
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2022-06-16 DOI: 10.1159/000525073
Chang-Jin Ye, Hongfang Mei, Huiyao Chen, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, L. Hu, G. Cheng, Wenhao Zhou, Lin Yang
Introduction: Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in China remains unknown. Methods: Sixty-one neonates with CM who were hospitalized in the Children’s Hospital of Fudan University between August 1, 2016, and August 31, 2020, were enrolled, and the clinical data and clinical exome-sequencing data were analyzed. An additional 18,103 parental data entries from the Chinese Children’s Genetic Testing Clinical Collaboration System database were collected to estimate the incidence of ASPM-related congenital microcephaly (ASPM-CM) in East China by analyzing the carrier frequency of ASPM mutations. Results: Among the 61 neonates with CM, 35 (57.4%) patients were identified with genetic findings, including 24 patients with single nucleotide variants (SNVs) and 11 patients with copy number variations (CNVs). ASPM was the most common gene with detrimental SNVs detected in 3 patients. Patients with genetic findings showed a significantly higher incidence of developmental delay (91.3%, 21/23) than those without genetic findings (60%, 9/15) (p = 0.04). All the 3 decreased patients had genetic findings. The estimated ASPM-CM incidence in East China was 1/1,295,044. Conclusion: Comprehensive genetic testing, detecting both SNVs and CNVs, is recommended for newborns with CM. Patients with genetic findings should be aware of the potential for developmental delay. ASPM gene defect was the most common genetic cause of CM in this study. The estimation of the incidence of ASPM-CM in East China might provide a reference for analyzing overall incidence.
中国先天性小头畸形(congenital microcephaly, CM)的遗传图谱数据很少,由最常见的突变基因ASPM引起的CM在中国的发病率尚不清楚。方法:选取2016年8月1日至2020年8月31日在复旦大学儿童医院住院的61例CM新生儿,对其临床资料和临床外显子组测序数据进行分析。另外从中国儿童基因检测临床协作系统数据库中收集了18103个父母数据条目,通过分析ASPM突变的携带者频率来估计中国东部地区ASPM相关先天性小头畸形(ASPM- cm)的发病率。结果:61例CM新生儿中有35例(57.4%)存在遗传发现,其中单核苷酸变异(SNVs) 24例,拷贝数变异(CNVs) 11例。ASPM是最常见的基因,在3例患者中检测到有害的snv。有遗传发现的患儿发育迟缓发生率(91.3%,21/23)显著高于无遗传发现的患儿(60%,9/15)(p = 0.04)。这3名患者都有基因方面的发现。估计中国东部的ASPM-CM发病率为1/1,295,044。结论:建议对新生儿CM进行综合基因检测,同时检测SNVs和CNVs。有基因发现的患者应该意识到潜在的发育迟缓。ASPM基因缺陷是本研究中CM最常见的遗传原因。研究结果可为华东地区整体发病率分析提供参考。
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引用次数: 1
Risk Factors Predicting the Need for Phototherapy in Glucose 6 Phosphate Dehydrogenase-Deficient Infants in a Large Retrospective Cohort Study 一项大型回顾性队列研究中预测葡萄糖-6-磷酸脱氢酶缺陷婴儿需要光疗的危险因素
IF 2.5 3区 医学 Q1 Medicine Pub Date : 2022-06-14 DOI: 10.1159/000524966
K. Gopagondanahalli, R. Mittal, A. A. Abdul Haium, B. Quek, P. Agarwal, L. M. Daniel, M. Chua, V. Rajadurai
Introduction: Glucose 6-phosphate dehydrogenase (G6PD) deficiency increases the risk of severe neonatal hyperbilirubinemia. This study evaluates the risk factors predicting the need for phototherapy in G6PD-deficient neonates after 72 h of age and assesses the safety of early discharge. Methods: A retrospective cohort study of 681 full-term G6PD-deficient infants with a birth weight ≥2,500 g over 4 years was conducted. We compared the baseline characteristics, bilirubin level on day 4 (after 72 h of life), day of peak bilirubin, G6PD levels, and concomitant ABO incompatibility between the group that required phototherapy (Group A) and those who did not (Group B). Results: 396 infants (58%), predominantly males, required phototherapy in the first week of life. The infants who required phototherapy had a lower median gestational age (38.3 vs. 38.7 weeks, p < 0.01) and had lower G6PD levels (2.3 ± 2.5 vs. 3 ± 3.4 IU, p < 0.05) compared to the controls. The mean day-four total serum bilirubin (TSB) levels were higher (213 ± 32 vs. 151 ± 37 µmol/L, p < 0.01), with bilirubin level peaking earlier (3 vs. 4 days of life, p < 0.01) in group A. Regression analysis identified TSB levels on day 4, Chinese race, lower gestation, and concomitant ABO incompatibility as the significant predictors for the need for phototherapy in the study population. In particular, coexisting ABO blood group incompatibility increased the risk of jaundice requiring phototherapy (OR 4.27, 95% CI: 1.98–121, p < 0.01). Day four TSB values above 180 µmol/L predicted the need for phototherapy with 86% sensitivity and 80% specificity. The findings were similar across both male and female infants with G6PD deficiency. Conclusion: G6PD-deficient infants with day four TSB levels of >180 µmol/L (10.5 mg/dL) and associated ABO blood group incompatibility have a higher risk of requiring phototherapy in the first week of life and should be closely monitored.
简介:葡萄糖-6-磷酸脱氢酶(G6PD)缺乏会增加新生儿患严重高胆红素血症的风险。本研究评估了预测G6PD缺陷新生儿72小时后需要光疗的风险因素,并评估了早期出院的安全性。方法:对681名出生体重≥2500 g、4年以上的足月G6PD缺陷婴儿进行回顾性队列研究。我们比较了需要光疗组(A组)和不需要光疗的组(B组)的基线特征、第4天(生命72小时后)的胆红素水平、胆红素峰值日、G6PD水平以及伴随的ABO血型不合。结果:396名婴儿(58%),主要是男性,在出生后的第一周需要接受光疗。与对照组相比,需要光疗的婴儿的中位胎龄较低(38.3 vs.38.7周,p<0.01),G6PD水平较低(2.3±2.5 vs.3±3.4 IU,p<0.05)。平均第4天血清总胆红素(TSB)水平更高(213±32 vs.151±37µmol/L,p<0.01),A组的胆红素水平峰值更早(3 vs.4天,p<0.01)。回归分析确定,第4天的TSB水平、中国种族、妊娠期较低以及伴随的ABO血型不合是研究人群需要光疗的重要预测因素。特别是,共存的ABO血型不合增加了需要光疗的黄疸风险(OR 4.27,95%CI:1.98-121,p<0.01)。第四天TSB值高于180µmol/L预测需要光疗,灵敏度为86%,特异性为80%。G6PD缺乏症的男性和女性婴儿的研究结果相似。结论:第四天TSB水平>180µmol/L(10.5 mg/dL)且相关ABO血型不合的G6PD缺陷婴儿在出生后第一周需要光疗的风险更高,应密切监测。
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引用次数: 1
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Neonatology
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