Pediatrics and Neonatology最新文献

{"title":"Letter to the Editor regarding \"Epidemiological predictors of quality of life and the role of early markers in children with cerebral palsy: A multi-centric cross-sectional study\".","authors":"Xin Zhao, Kanglong Peng, Xianrong Liang, Guojun Yun","doi":"10.1016/j.pedneo.2024.08.004","DOIUrl":"https://doi.org/10.1016/j.pedneo.2024.08.004","url":null,"abstract":"","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142633358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.","authors":"Chen Chen, Hang Zhou, Fang Fu, Ruibin Huang, You Wang, Fei Guo, Chunlin Ma, Fucheng Li, Dan Wang, Qiuxia Yu, Yan Lu, Guilan Chen, Tingying Lei, Ru Li","doi":"10.1016/j.pedneo.2024.06.010","DOIUrl":"10.1016/j.pedneo.2024.06.010","url":null,"abstract":"<p><strong>Objective: </strong>This single-center retrospective study aimed to investigate the genetic factors contributing to neonatal and pediatric pulmonary hypertension in a Chinese population using trio whole-exome sequencing (trio-WES).</p><p><strong>Method: </strong>This retrospective analysis reviewed the clinical and genetic profiles of children under 18 years of age diagnosed with pulmonary hypertension between March 2017 and March 2022. The diagnosis of pediatric pulmonary hypertension was confirmed through echocardiography and catheterization. Trio-WES was performed on the patients and their parents after obtaining informed consent.</p><p><strong>Results: </strong>A total of 51 children with neonatal and pediatric pulmonary hypertension were included, comprising 20 with pediatric pulmonary arterial hypertension and 31 with persistent pulmonary hypertension of the newborn. Trio-WES detected 16 pathogenic or likely pathogenic variants in 14 patients across ten genes, including: BMPR2 (n = 2), CHD7 (n = 2), FOXF1 (n = 2), MED13L (n = 1), TNNI3 (n = 2), ALMS1 (n = 1), KMT2D (n = 2), NKX2-1 (n = 1), NONO (n = 1), and CACNA1E (n = 1). In addition, two patients exhibited de novo pathogenic copy number variations.</p><p><strong>Conclusion: </strong>Our findings demonstrate the significant diagnostic value of trio-WES in pediatric pulmonary hypertension, supporting its recommendation for these patients.</p>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142633328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and prognosis of SARS-CoV-2 infection in children with hematological malignancies: A multicenter, retrospective study in China","authors":"Weilin Wang ,&nbsp;Xueju Xu ,&nbsp;Songting Bai ,&nbsp;Lu Wang ,&nbsp;Jixia Luo ,&nbsp;Daiyan Zhao ,&nbsp;Ping Li ,&nbsp;Qiuxia Fan ,&nbsp;Chunmei Wang ,&nbsp;Qianghua Yao ,&nbsp;Bai Li ,&nbsp;Dao Wang","doi":"10.1016/j.pedneo.2023.12.006","DOIUrl":"10.1016/j.pedneo.2023.12.006","url":null,"abstract":"<div><h3>Background</h3><div>Data on SARSCoV-2 infection in children with hematological malignancies (HM) are limited. Here, we describe the clinical features of children with HM after SARS-CoV-2 infection and investigate the potential risk factors for disease severity.</div></div><div><h3>Methods</h3><div>Children with HM and SARS-CoV-2 infection from five hospitals in five cities in Henan, China from October 2022 to January 2023 were retrospectively included. Clinical information and Coronavirus disease 2019 (COVID-19) vaccination status were collected for further analyses.</div></div><div><h3>Results</h3><div>A total of 285 children with HM and SARS-CoV-2 infections were included. COVID-19 was asymptomatic in 3.2% of the patients (n = 9), mild in 89.1% (n = 254), moderate in 5.3% (n = 15), severe in 1.8% (n = 5), and critical in 0.7% (n = 2). Fever (92.4%) and cough (56.9%) were the most common symptoms. Most (249, 88.3%) children were managed at home during their COVID-19 illness. Of the 36 children admitted to the hospital, two required intensive care unit care, 11 required supplementary oxygen, and two non-invasive ventilation. A total of 283 (99.3%) children fully recovered and two (0.7%) died due to COVID-19. Significant risk factors for increased severity of infection in multivariable analyses were the presence of comorbidity (OR, 10.4; 95%CI, 2.8–38.7; p &lt; 0.0001), neutropenia (OR, 10.4; 95%CI, 2.6–41.8; p = 0.001), and lymphopenia (OR, 4.2; 95%CI, 1.2–15.4; p = 0.029). A total of 30.9% (88/285) of the children received at least one dose of the inactivated COVID-19 vaccine at COVID-19 diagnosis. Compared with children who received at least one dose of the COVID-19 vaccine, fever was significantly more common in unvaccinated children (79.3% vs. 93.8%, p &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>Children with HM are not at an increased risk of severe COVID-19 compared to the general pediatric population. However, comorbidities such as lymphopenia and neutropenia may increase the risk of developing moderate or severe/critical disease. Our data may help in management decisions for this vulnerable population.</div></div>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 553-559"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140327472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-linked myotubular myopathy in a family of two infant siblings: A case report and review","authors":"Amelia Suan-Lin Koe,&nbsp;Yee Yin Tan,&nbsp;Shrenik Vora","doi":"10.1016/j.pedneo.2024.02.009","DOIUrl":"10.1016/j.pedneo.2024.02.009","url":null,"abstract":"<div><div>X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G &gt; A variant in intron-5 of the <em>MTM1</em> gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.</div></div>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 527-531"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Music and movement therapy improves quality of life and attention and associated electroencephalogram changes in patients with attention-deficit/hyperactivity disorder","authors":"Mei-Wen Lee ,&nbsp;Ni-Jung Yang ,&nbsp;Hin-Kiu Mok ,&nbsp;Rei-Cheng Yang ,&nbsp;Yi-Hung Chiu ,&nbsp;Lung-Chang Lin","doi":"10.1016/j.pedneo.2023.11.007","DOIUrl":"10.1016/j.pedneo.2023.11.007","url":null,"abstract":"<div><h3>Background</h3><div>Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder. Treatments for ADHD include pharmacological and nonpharmacological therapy. However, pharmacological treatments have side effects such as poor appetite, sleep disturbance, and headache. Moreover, nonpharmacological treatments are not effective in ameliorating core symptoms and are time-consuming. Hence, developing an alternative and effective treatment without (or with fewer) side effects is crucial. Music therapy has long been used to treat numerous neurological diseases. Although listening to music is beneficial for mood and cognitive functions in patients with ADHD, research on the effects of music and movement therapy in children with ADHD is lacking.</div></div><div><h3>Methods</h3><div>The present study investigated the effects of an 8-week music and movement intervention in 13 children with ADHD. The Pediatric Quality of Life Inventory (PedsQL) was used to evaluate changes in participants' quality of life. Conners’ Kiddie Continuous Performance Test (K-CPT 2) and the Swanson, Nolan, and Pelham rating scale (SNAP-IV) were used to assess core symptoms. Electroencephalogram (EEG) recordings were analyzed to determine neurophysiological changes.</div></div><div><h3>Results</h3><div>The results revealed that the participants' quality of life increased significantly after the 8-week intervention. Furthermore, the participants' hit reaction times in the block 1 and block 2 tests of K-CPT 2 decreased significantly after the intervention. EEG analysis demonstrated an increase in alpha power and Higuchi's fractal dimension and a decrease in delta power in certain EEG channels.</div></div><div><h3>Conclusion</h3><div>Our music and movement intervention is a potential alternative and effective tool for ADHD treatment and it can significantly improve patients’ quality of life and attention.</div></div>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 581-587"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140761923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare case of familial symptomatic spontaneous idiopathic pneumoperitoneum","authors":"Christelle Destinval,&nbsp;Jean-Louis Lemelle","doi":"10.1016/j.pedneo.2024.07.003","DOIUrl":"10.1016/j.pedneo.2024.07.003","url":null,"abstract":"","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 605-606"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lung ultrasound in the evaluation of pulmonary edema in newborns with critical congenital heart disease","authors":"Basak Kaya ,&nbsp;Dilek Dilli ,&nbsp;Yasin Sarikaya ,&nbsp;Hasan Akduman ,&nbsp;Rumeysa Citli ,&nbsp;Utku A. Orun ,&nbsp;Mehmet Tasar ,&nbsp;Aysegul Zenciroglu","doi":"10.1016/j.pedneo.2024.02.006","DOIUrl":"10.1016/j.pedneo.2024.02.006","url":null,"abstract":"<div><h3>Background</h3><div>Newborns with critical congenital heart disease (CCHD) with increased pulmonary blood flow (PBF) are at high risk for congestive heart failure. In this study, we aimed to evaluate the presence and degree of pulmonary edema in newborns with CCHD using lung ultrasound (LUS) during the perioperative period.</div></div><div><h3>Methods</h3><div>Prospective clinical trial, 44 newborn patients with CCHD were evaluated in this prospective clinical trial. LUS was repeatedly performed to determine the course of pulmonary edema during the perioperative period. LUS was performed simultaneously with chest radiography (CXR), which was the main part of patient management. The primary outcome of this study was to identify whether a correlation existed between LUS and CXR findings. The secondary outcomes were to determine the relationship between LUS and the need for respiratory support, diuretic use, vasoactive inotropic score (VIS), and pro-B-type natriuretic peptide (pro-BNP) levels durin<u>g</u> the perioperative period.</div></div><div><h3>Results</h3><div>The mean gestational age of the patients was 38.3 ± 1.7 weeks, with a mean birth weight of 3026 ± 432 g. In the preoperative period, both LUS and CXR images were consistent with clinical signs of pulmonary edema. On the first postoperative day, pulmonary edema increased compared to the preoperative period but gradually decreased by the 6th day of surgery (p &lt; 0.05). Positive correlations were observed between the LUS and CXR findings at all study points (p &lt; 0.05). The LUS findings exhibited trends parallel to those of VIS, serum pro-BNP levels, need for respiratory support, and diuretic requirements. As expected, these trends were more pronounced in CCHDs where PBF increased.</div></div><div><h3>Conclusion</h3><div>In CCHD, serial lung ultrasound (LUS) assessments, particularly in cases with increased PBF, can provide valuable guidance for managing patients during the perioperative period.</div></div>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 532-538"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Esophageal inlet patch in a 7-year-old girl with subacute dysphagia","authors":"Ana Fernández-García ,&nbsp;Samuel Sáez Álvarez ,&nbsp;Carmen González-Lamuño Sanchis ,&nbsp;Cristina Iglesias Blázquez ,&nbsp;María Rodríguez Ruiz ,&nbsp;Javier Arredondo Montero","doi":"10.1016/j.pedneo.2024.07.004","DOIUrl":"10.1016/j.pedneo.2024.07.004","url":null,"abstract":"","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 603-604"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141984061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preterm birth increases cerebral palsy hazards in children of mothers with chronic hypertension in pregnancy","authors":"Yi-Chien Huang ,&nbsp;Hung-Chih Lin ,&nbsp;Yu-Tzu Chang ,&nbsp;Ming-Luen Tsai ,&nbsp;Yu-Chia Chang ,&nbsp;Lan-Wan Wang","doi":"10.1016/j.pedneo.2023.10.009","DOIUrl":"10.1016/j.pedneo.2023.10.009","url":null,"abstract":"<div><h3>Background</h3><div>Children of mothers with chronic-hypertension in pregnancy have high rates of preterm-birth (&lt;37 weeks of gestation) and small-for-gestational-age (SGA), both of which are risk factors of cerebral palsy (CP). This study investigated the cumulative risks of CP in children exposed to maternal chronic-hypertension vs. other types of hypertensive-disorders-of-pregnancy (HDP), and whether preterm-birth and SGA potentiate the antenatal impact of chronic-hypertension to increase CP hazards.</div></div><div><h3>Methods</h3><div>This population-based cohort study enrolled 1,417,373 mother-child pairs with singleton live births between 2004 and 2011 from the Taiwan Maternal and Child Health Database. A total of 19,457 pairs with HDP were identified and propensity-score-matched with 97,285 normotensive controls. Children were followed up for CP outcome until age 6–13 years. HDP were classified into chronic-hypertension, gestational-hypertension, preeclampsia, and preeclampsia-with-chronic-hypertension. Using the normotensive group as the reference, the associations between chronic-hypertension and CP hazard were assessed with adjusted hazard ratios (HR) and 95% confidence intervals (CI) in Cox proportional hazards regression models, and the effects of preterm-birth and SGA on the associations were examined.</div></div><div><h3>Results</h3><div>The HDP group had higher rates of CP (0.8%) than the normotensive group (0.5%), particularly the subgroup of preeclampsia-with-chronic-hypertension (1.0%), followed by preeclampsia (0.9%), chronic-hypertension (0.7%) and gestational-hypertension (0.6%). Preterm-birth, but not SGA, exerted moderating effects to increase CP risks in children exposed to maternal chronic-hypertension. Before adjustments, chronic-hypertension alone had no substantial contribution to CP hazard (HR 1.35, 95% CI 1.00–1.83), while preeclampsia alone (1.64, 1.28–2.11) or with superimposed-chronic-hypertension (1.83, 1.16–2.89) had significant effects. After including preterm-birth in the multivariable model, the CP hazard for chronic-hypertension alone rather than other types of HDP was raised and became significant (1.56, 1.15–2.12), and the significance remained after stepwise adjustments in the final model (1.74, 1.16–2.60).</div></div><div><h3>Conclusions</h3><div>Preterm-birth might potentiate CP hazards in children of mothers with chronic-hypertension in pregnancy.</div></div>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 539-545"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140295377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bohring–Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing","authors":"Ching-Ming Lin ,&nbsp;Chien-Ming Lin ,&nbsp;Sheng-Yuan Ho","doi":"10.1016/j.pedneo.2024.07.001","DOIUrl":"10.1016/j.pedneo.2024.07.001","url":null,"abstract":"","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 599-600"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}