Neonatology最新文献

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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
Neonatology 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
{"title":"Graphic Intelligent Diagnosis of Hypoxic-Ischemic Encephalopathy Using MRI-Based Deep Learning Model.","authors":"Tian Tian,&nbsp;Tongjia Gan,&nbsp;Jun Chen,&nbsp;Jun Lu,&nbsp;Guiling Zhang,&nbsp;Yiran Zhou,&nbsp;Jia Li,&nbsp;Haoyue Shao,&nbsp;Yufei Liu,&nbsp;Hongquan Zhu,&nbsp;Di Wu,&nbsp;Chengcheng Jiang,&nbsp;Jianbo Shao,&nbsp;Jingjing Shi,&nbsp;Wenzhong Yang,&nbsp;Wenzhen Zhu","doi":"10.1159/000530352","DOIUrl":"https://doi.org/10.1159/000530352","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"120 4","pages":"441-449"},"PeriodicalIF":2.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10090384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Neonatology Pub Date : 2023-01-01 DOI: 10.1159/000530877
Shabih Manzar
{"title":"Cerebellar Biometry in Preterm Infants.","authors":"Shabih Manzar","doi":"10.1159/000530877","DOIUrl":"https://doi.org/10.1159/000530877","url":null,"abstract":"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.","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"120 4","pages":"537-538"},"PeriodicalIF":2.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10102381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of Change in Practice of Routine Tracheal Suctioning Approach of Non-Vigorous Infants Born through Meconium-Stained Amniotic Fluid: A Pragmatic Systematic Review and Meta-Analysis of Evidence outside Randomized Trials. 评估常规气管吸痰治疗羊水粪染色婴儿的改变:一项实用的系统评价和随机试验外证据的荟萃分析。
IF 2.5 3区 医学
Neonatology Pub Date : 2023-01-01 DOI: 10.1159/000528715
Viraraghavan Vadakkencherry Ramaswamy, Tapas Bandyopadhyay, Sushma Nangia, Gunjana Kumar, Abdul Kareem Pullattayil, Daniele Trevisanuto, Charles Christoph Roehr, Satyan Lakshminrusimha
{"title":"Assessment of Change in Practice of Routine Tracheal Suctioning Approach of Non-Vigorous Infants Born through Meconium-Stained Amniotic Fluid: A Pragmatic Systematic Review and Meta-Analysis of Evidence outside Randomized Trials.","authors":"Viraraghavan Vadakkencherry Ramaswamy,&nbsp;Tapas Bandyopadhyay,&nbsp;Sushma Nangia,&nbsp;Gunjana Kumar,&nbsp;Abdul Kareem Pullattayil,&nbsp;Daniele Trevisanuto,&nbsp;Charles Christoph Roehr,&nbsp;Satyan Lakshminrusimha","doi":"10.1159/000528715","DOIUrl":"https://doi.org/10.1159/000528715","url":null,"abstract":"<p><strong>Aim: </strong>The 2015 recommendation of the International Liaison Committee on Resuscitation of no routine tracheal suctioning in non-vigorous neonates born through meconium-stained amniotic fluid (MSAF) was based on very low certainty of evidence (CoE) necessitating ongoing monitoring. The aim of this systematic review was to perform a meta-analysis of observational studies comparing the effect of implementing immediate resuscitation without routine tracheal suctioning versus with routine suctioning in neonates born through MSAF.</p><p><strong>Methods: </strong>MEDLINE, Embase, CENTRAL, and Web of Science were searched. Observational studies with a before-and-after design were included. Two authors extracted data independently. CoE based on GRADE recommendations was performed.</p><p><strong>Results: </strong>13 studies were included. Clinical benefit or harm could not be excluded for the composite primary outcome of mortality or requirement of extracorporeal membranous oxygenation (ECMO) (relative risk, 95% confidence interval: 0.74 [0.47-1.17]), and mortality (0.68 [0.42-1.11]). \"Routine tracheal suctioning\" epoch had possibly lesser risk of meconium aspiration syndrome (MAS) when compared to \"no routine tracheal suctioning\" epoch (0.68 [0.47-0.99]). \"Routine tracheal suctioning\" epoch also possibly had a lower risk of hospital admission for respiratory symptoms, requirement of non-invasive respiratory support, invasive mechanical ventilation, surfactant treatment, air leak, and low-flow oxygen therapy. Clinical benefit or harm could not be excluded for the outcome of mortality or ECMO among those diagnosed with MAS (1.09 [0.86-1.39]), but \"routine tracheal suctioning\" was possibly associated with lower risk of respiratory morbidities among those diagnosed with MAS. The CoE was very low for most of the outcomes evaluated.</p><p><strong>Conclusions: </strong>Due to the very low CoE for the outcomes evaluated, no definitive conclusions can be drawn warranting the need for additional studies.</p>","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"120 2","pages":"161-175"},"PeriodicalIF":2.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9288159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Magnetic Resonance Imaging-Based Evaluation of Anatomy and Outcome Prediction in Infants with Esophageal Atresia. 基于磁共振成像的食道闭锁婴儿解剖学评估和结果预测。
IF 2.5 3区 医学
Neonatology Pub Date : 2023-01-01 Epub Date: 2023-02-22 DOI: 10.1159/000526794
Kaitlyn T Marks, Nara S Higano, Meera Kotagal, Jason C Woods, Paul S Kingma
{"title":"Magnetic Resonance Imaging-Based Evaluation of Anatomy and Outcome Prediction in Infants with Esophageal Atresia.","authors":"Kaitlyn T Marks, Nara S Higano, Meera Kotagal, Jason C Woods, Paul S Kingma","doi":"10.1159/000526794","DOIUrl":"10.1159/000526794","url":null,"abstract":"<p><strong>Introduction: </strong>There is currently no validated diagnostic modality to characterize the anatomy and predict outcomes of tracheal esophageal defects, such as esophageal atresia (EA) and tracheal esophageal fistulas (TEFs). We hypothesized that ultra-short echo-time MRI would provide enhanced anatomic information allowing for evaluation of specific EA/TEF anatomy and identification of risk factors that predict outcome in infants with EA/TEF.</p><p><strong>Methods: </strong>In this observational study, 11 infants had pre-repair ultra-short echo-time MRI of the chest completed. Esophageal size was measured at the widest point distal to the epiglottis and proximal to the carina. Angle of tracheal deviation was measured by identifying the initial point of deviation and the farthest lateral point proximal to the carina.</p><p><strong>Results: </strong>Infants without a proximal TEF had a larger proximal esophageal diameter (13.5 ± 5.1 mm vs. 6.8 ± 2.1 mm, p = 0.07) when compared to infants with a proximal TEF. The angle of tracheal deviation in infants without a proximal TEF was larger than infants with a proximal TEF (16.1 ± 6.1° vs. 8.2 ± 5.4°, p = 0.09) and controls (16.1 ± 6.1° vs. 8.0 ± 3.1°, p = 0.005). An increase in the angle of tracheal deviation was positively correlated with duration of post-operative mechanical ventilation (Pearson r = 0.83, p < 0.002) and total duration of post-operative respiratory support (Pearson r = 0.80, p = 0.004).</p><p><strong>Discussion: </strong>These results demonstrate that infants without a proximal TEF have a larger proximal esophagus and a greater angle of tracheal deviation which is directly correlated with the need for longer post-operative respiratory support. Additionally, these results demonstrate that MRI is a useful tool to assess the anatomy of EA/TEF.</p>","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"120 2","pages":"185-195"},"PeriodicalIF":2.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9329570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Discharge Age and Weight for Very Preterm Infants in Six Countries: 2012-2020. 六个国家极早产儿的出生年龄和体重:2012-2020年。
IF 2.5 3区 医学
Neonatology Pub Date : 2023-01-01 DOI: 10.1159/000528013
Erika M Edwards, Lucy T Greenberg, Jeffrey D Horbar, Luigi Gagliardi, Mark Adams, Angelika Berger, Sara Leitao, Karen Luyt, Danielle E Y Ehret, Jeannette A Rogowski
{"title":"Discharge Age and Weight for Very Preterm Infants in Six Countries: 2012-2020.","authors":"Erika M Edwards,&nbsp;Lucy T Greenberg,&nbsp;Jeffrey D Horbar,&nbsp;Luigi Gagliardi,&nbsp;Mark Adams,&nbsp;Angelika Berger,&nbsp;Sara Leitao,&nbsp;Karen Luyt,&nbsp;Danielle E Y Ehret,&nbsp;Jeannette A Rogowski","doi":"10.1159/000528013","DOIUrl":"https://doi.org/10.1159/000528013","url":null,"abstract":"<p><strong>Background: </strong>Postmenstrual age for surviving infants without congenital anomalies born at 24-29 weeks' gestational age from 2005 to 2018 in the USA increased 8 days, discharge weight increased 316 grams, and median discharge weight z-score increased 0.19 standard units. We asked whether increases were observed in other countries.</p><p><strong>Methods: </strong>We evaluated postmenstrual age, weight, and weight z-score at discharge of surviving infants without congenital anomalies born at 24-29 weeks' gestational age admitted to Vermont Oxford Network member hospitals in Austria, Ireland, Italy, Switzerland, the UK, and the USA from 2012 to 2020.</p><p><strong>Results: </strong>After adjustment, the median postmenstrual age at discharge increased significantly in Austria (3.6 days, 99% CI [1.0, 6.3]), Italy (4.0 days [2.3, 5.6]), and the USA (5.4 days [5.0, 5.8]). Median discharge weight increased significantly in Austria (181 grams, 99% CI [95, 267]), Ireland (234 [143, 325]), Italy (133 [83, 182]), and the USA (207 [194, 220]). Median discharge weight z-score increased in Ireland (0.24 standard units, 99% CI [0.12, 0.36]) and the USA (0.15 [0.13, 0.16]). Discharge on human milk increased in Italy, Switzerland, and the UK, while going home on cardiorespiratory monitors decreased in Austria, Ireland, and USA and going home on oxygen decreased in Ireland.</p><p><strong>Conclusions: </strong>In this international cohort of neonatal intensive care units, postmenstrual discharge age and weight increased in some, but not all, countries. Processes of care at discharge did not change in conjunction with age and weight increases.</p>","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"120 2","pages":"208-216"},"PeriodicalIF":2.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9340822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Neonatology Pub Date : 2023-01-01 DOI: 10.1159/000530080
Alexandre Lapillonne, Christine Pichon, Benoit Renaudin, Muriel Nicloux, Virginie Rigourd, Yves Ville
{"title":"Breastfeeding Success and Newborn Health before and during the COVID-19 Pandemic:A Single-Centre Comparative Study.","authors":"Alexandre Lapillonne,&nbsp;Christine Pichon,&nbsp;Benoit Renaudin,&nbsp;Muriel Nicloux,&nbsp;Virginie Rigourd,&nbsp;Yves Ville","doi":"10.1159/000530080","DOIUrl":"https://doi.org/10.1159/000530080","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>The success of exclusive breastfeeding during the 2020 lockdown period was increased compared with the same period in 2019.</p>","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"120 4","pages":"450-457"},"PeriodicalIF":2.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10472395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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 4.6 3区 医学
Neonatology Pub Date : 2023-01-01 Epub Date: 2023-09-01 DOI: 10.1159/000532017
Akio Ishiguro, Kazuhiko Kabe
{"title":"Effects of Catecholamines on Blood Flow in Preterm Infants: A Subanalysis of PICC-MBF Trial.","authors":"Akio Ishiguro, Kazuhiko Kabe","doi":"10.1159/000532017","DOIUrl":"10.1159/000532017","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>Two hundred and thirty-four participants underwent echocardiography. Skin blood flow was significantly correlated with supra vena cava (SVC) flow (r = 0.31, p &lt; 0.001). Receiver operator characteristic analysis revealed that skin blood flow &lt;17 mL/min effectively detected SVC flow &lt;41 mL/min (area under the curve = 0.83, p &lt; 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 &lt; 0.001).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":" ","pages":"673-680"},"PeriodicalIF":4.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10499768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Front & Back Matter 正面和背面
IF 2.5 3区 医学
Neonatology Pub Date : 2022-12-01 DOI: 10.1159/000528547
{"title":"Front & Back Matter","authors":"","doi":"10.1159/000528547","DOIUrl":"https://doi.org/10.1159/000528547","url":null,"abstract":"","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"119 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65303151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Neonatology 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
{"title":"Molecular Genetic Analysis of Newborns with Congenital Microcephaly","authors":"Chang-Jin Ye, Hongfang Mei, Huiyao Chen, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, L. Hu, G. Cheng, Wenhao Zhou, Lin Yang","doi":"10.1159/000525073","DOIUrl":"https://doi.org/10.1159/000525073","url":null,"abstract":"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.","PeriodicalId":18924,"journal":{"name":"Neonatology","volume":"119 1","pages":"455 - 463"},"PeriodicalIF":2.5,"publicationDate":"2022-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45526473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Neonatology 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
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