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Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population. 新生儿和儿童肺动脉高压的遗传负荷:一项在中国人群中使用外显子组测序的单中心回顾性研究。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-04 DOI: 10.1016/j.pedneo.2024.06.010
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

Objective: 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).

Method: 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.

Results: 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.

Conclusion: Our findings demonstrate the significant diagnostic value of trio-WES in pediatric pulmonary hypertension, supporting its recommendation for these patients.

目的这项单中心回顾性研究旨在利用三重全外显子测序(trio-WES)研究中国人群中导致新生儿和小儿肺动脉高压的遗传因素:这项回顾性分析回顾了2017年3月至2022年3月期间确诊为肺动脉高压的18岁以下儿童的临床和遗传特征。小儿肺动脉高压的诊断是通过超声心动图和导管检查确诊的。在获得知情同意后,对患者及其家长进行了三联超声心动图检查:结果:共纳入 51 名新生儿和小儿肺动脉高压患儿,包括 20 名小儿肺动脉高压患儿和 31 名新生儿持续性肺动脉高压患儿。Trio-WES 在 14 名患者的 10 个基因中检测出 16 个致病或可能致病的变体,包括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)和 CACNA1E(n = 1)。此外,两名患者出现了新的致病性拷贝数变异:结论:我们的研究结果表明,三重 WES 对小儿肺动脉高压具有重要的诊断价值,支持对这些患者推荐使用。
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引用次数: 0
Clinical characteristics and prognosis of SARS-CoV-2 infection in children with hematological malignancies: A multicenter, retrospective study in China 血液恶性肿瘤患儿感染 SARS-CoV-2 的临床特征和预后:中国多中心回顾性研究。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2023.12.006
Weilin Wang , Xueju Xu , Songting Bai , Lu Wang , Jixia Luo , Daiyan Zhao , Ping Li , Qiuxia Fan , Chunmei Wang , Qianghua Yao , Bai Li , Dao Wang

Background

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.

Methods

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.

Results

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 < 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 < 0.001).

Conclusions

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.
背景:血液恶性肿瘤(HM)患儿感染SARS-CoV-2的数据有限。在此,我们描述了血液恶性肿瘤患儿感染 SARS-CoV-2 后的临床特征,并研究了导致疾病严重程度的潜在危险因素:方法:回顾性纳入2022年10月至2023年1月期间中国河南五市五家医院的HM和SARS-CoV-2感染患儿。收集临床信息和2019年冠状病毒病(COVID-19)疫苗接种情况,以便进一步分析:结果:共纳入285名感染HM和SARS-CoV-2的儿童。3.2%的患者(9人)无症状,89.1%(254人)为轻度,5.3%(15人)为中度,1.8%(5人)为重度,0.7%(2人)为危重。发热(92.4%)和咳嗽(56.9%)是最常见的症状。大多数患儿(249人,88.3%)在COVID-19发病期间在家接受治疗。在入院的 36 名儿童中,2 名需要重症监护室护理,11 名需要补充氧气,2 名需要无创通气。共有 283 名(99.3%)儿童完全康复,2 名(0.7%)儿童死于 COVID-19。在多变量分析中,合并症(OR,10.4;95%CI,2.8-38.7;P)是导致感染严重程度增加的重要风险因素:与普通儿科人群相比,患有 HM 的儿童感染严重 COVID-19 的风险并没有增加。然而,淋巴细胞减少症和中性粒细胞减少症等合并症可能会增加患中度或重度/危重疾病的风险。我们的数据可能有助于为这一易感人群做出管理决策。
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引用次数: 0
X-linked myotubular myopathy in a family of two infant siblings: A case report and review 两个婴儿兄弟姐妹家庭中的 X 连锁肌管肌病:病例报告与综述
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2024.02.009
Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora
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 > A variant in intron-5 of the MTM1 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.
X 连锁肌管肌病(XLMTM)是一种严重的先天性骨骼肌疾病,通常在出生时就会出现,需要进行大量抢救。虽然该病的表型多变,但由于住院率和婴儿期死亡率较高,其诊断预后较差。因此,对 XLMTM 患者的管理应在与家长共同决策的指导下进行,同时考虑到疾病的严重程度和进展、生活质量以及对护理人员的要求。我们描述了一个由两个同父异母的兄弟姐妹组成的家庭,他们都患有严重的新生儿型 XLMTM,预后和结局各不相同。此外,我们还在该家族中发现了 MTM1 基因内含子-5 中的 c.343-1G > A 变异。在此,我们提出了一种处理 XLMTM 的算法,概述了产前和产后随访期间的重要注意事项。
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引用次数: 0
Music and movement therapy improves quality of life and attention and associated electroencephalogram changes in patients with attention-deficit/hyperactivity disorder 音乐和运动疗法可改善注意力缺陷/多动障碍患者的生活质量和注意力以及相关脑电图变化。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2023.11.007
Mei-Wen Lee , Ni-Jung Yang , Hin-Kiu Mok , Rei-Cheng Yang , Yi-Hung Chiu , Lung-Chang Lin

Background

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.

Methods

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.

Results

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.

Conclusion

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.
背景注意缺陷/多动障碍(ADHD)是最常见的神经行为障碍。治疗多动症的方法包括药物治疗和非药物治疗。然而,药物治疗有副作用,如食欲不振、睡眠障碍和头痛。此外,非药物治疗无法有效改善核心症状,而且耗时较长。因此,开发一种无副作用(或副作用较小)的替代性有效治疗方法至关重要。长期以来,音乐疗法一直被用于治疗多种神经系统疾病。虽然听音乐对多动症患者的情绪和认知功能有益,但目前还缺乏关于音乐和运动疗法对多动症儿童影响的研究。方法本研究调查了为期 8 周的音乐和运动干预对 13 名多动症儿童的影响。儿科生活质量量表(PedsQL)用于评估参与者生活质量的变化。康纳斯儿童连续表现测试(K-CPT 2)和斯旺森、诺兰和佩勒姆评分量表(SNAP-IV)用于评估核心症状。对脑电图(EEG)记录进行分析,以确定神经生理学变化。此外,干预后,参加者在 K-CPT 2 的区块 1 和区块 2 测试中的命中反应时间明显减少。脑电图分析表明,某些脑电图通道的阿尔法功率和樋口分形维数增加,而德尔塔功率下降。
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引用次数: 0
A rare case of familial symptomatic spontaneous idiopathic pneumoperitoneum 一例罕见的家族性症状性自发性特发性腹腔积气。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2024.07.003
Christelle Destinval, Jean-Louis Lemelle
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引用次数: 0
Lung ultrasound in the evaluation of pulmonary edema in newborns with critical congenital heart disease 肺部超声评估患有严重先天性心脏病的新生儿肺水肿。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2024.02.006
Basak Kaya , Dilek Dilli , Yasin Sarikaya , Hasan Akduman , Rumeysa Citli , Utku A. Orun , Mehmet Tasar , Aysegul Zenciroglu

Background

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.

Methods

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 during the perioperative period.

Results

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 < 0.05). Positive correlations were observed between the LUS and CXR findings at all study points (p < 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.

Conclusion

In CCHD, serial lung ultrasound (LUS) assessments, particularly in cases with increased PBF, can provide valuable guidance for managing patients during the perioperative period.
背景:患有严重先天性心脏病(CCHD)且肺血流(PBF)增加的新生儿是充血性心力衰竭的高危人群。在这项研究中,我们的目的是在围手术期使用肺超声(LUS)评估 CCHD 新生儿肺水肿的存在和程度:这项前瞻性临床试验共评估了 44 名 CCHD 新生儿患者。在围手术期反复进行 LUS,以确定肺水肿的进程。LUS 与胸片 (CXR) 同时进行,后者是患者管理的主要部分。本研究的主要结果是确定 LUS 和 CXR 结果之间是否存在相关性。次要结果是确定 LUS 与围手术期呼吸支持需求、利尿剂使用、血管活性肌力评分(VIS)和前 B 型钠尿肽(pro-BNP)水平之间的关系:患者的平均胎龄为 38.3 ± 1.7 周,平均出生体重为 3026 ± 432 克。术前,LUS 和 CXR 图像与肺水肿的临床表现一致。术后第一天,肺水肿较术前加重,但在术后第 6 天逐渐减轻(P在慢性阻塞性肺疾病患者中,连续的肺超声(LUS)评估,尤其是在 PBF 增加的病例中,可为围手术期患者的管理提供有价值的指导。
{"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}
引用次数: 0
Esophageal inlet patch in a 7-year-old girl with subacute dysphagia 一名患有亚急性吞咽困难的 7 岁女孩的食道入口补片。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2024.07.004
Ana Fernández-García , Samuel Sáez Álvarez , Carmen González-Lamuño Sanchis , Cristina Iglesias Blázquez , María Rodríguez Ruiz , Javier Arredondo Montero
{"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}
引用次数: 0
Preterm birth increases cerebral palsy hazards in children of mothers with chronic hypertension in pregnancy 早产会增加妊娠期慢性高血压母亲所生子女患脑瘫的风险。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2023.10.009
Yi-Chien Huang , Hung-Chih Lin , Yu-Tzu Chang , Ming-Luen Tsai , Yu-Chia Chang , Lan-Wan Wang

Background

Children of mothers with chronic-hypertension in pregnancy have high rates of preterm-birth (<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.

Methods

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.

Results

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).

Conclusions

Preterm-birth might potentiate CP hazards in children of mothers with chronic-hypertension in pregnancy.
背景:妊娠期患有慢性高血压的母亲,其子女的早产率很高(方法:这项基于人群的队列研究从台湾妇幼保健数据库中收集了 2004 年至 2011 年间单胎活产的 1,417,373 对母子。共识别出 19,457 对患有 HDP 的母婴,并与 97,285 例血压正常的对照组进行了倾向得分匹配。对患儿的 CP 结果进行了随访,直至其 6-13 岁。HDP分为慢性高血压、妊娠高血压、子痫前期和子痫前期合并慢性高血压。以血压正常组为参照,在Cox比例危险回归模型中用调整后的危险比(HR)和95%置信区间(CI)评估慢性高血压与CP危险之间的关联,并考察早产和SGA对关联的影响:HDP组CP发病率(0.8%)高于血压正常组(0.5%),尤其是子痫前期合并慢性高血压亚组(1.0%),其次是子痫前期(0.9%)、慢性高血压(0.7%)和妊娠高血压(0.6%)。早产(而非 SGA)具有调节作用,可增加母亲患慢性高血压的儿童患先天性心脏病的风险。在进行调整之前,单独的慢性高血压对CP风险没有实质性影响(HR 1.35,95% CI 1.00-1.83),而单独的子痫前期(1.64,1.28-2.11)或叠加慢性高血压(1.83,1.16-2.89)则有显著影响。将早产纳入多变量模型后,单纯慢性高血压而非其他类型 HDP 的 CP 危险性升高并变得显著(1.56,1.15-2.12),在最终模型中经过逐步调整后,其显著性仍然存在(1.74,1.16-2.60):早产可能会加剧妊娠期慢性高血压母亲所生子女的CP危害。
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引用次数: 0
Bohring–Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing 波林-奥皮茨综合征:通过全外显子测序揭示新生儿低血糖症和早期检测。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2024.07.001
Ching-Ming Lin , Chien-Ming Lin , Sheng-Yuan Ho
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引用次数: 0
Clinical implications of dextrocardia based on four visceroatrial situs studies 基于四项内脏心房位置研究的右心室脱垂临床意义
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.1016/j.pedneo.2023.10.011
Mao-Sheng Hwang , Ching-Chia Kuo , Chao-Jan Wang , Wen-Jen Su , Jaw-Ji Chu , Hung-Tao Chung , Hsiang-Ju Hsiao , Yi-Jung Chang

Background

Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of dextrocardia in the general population. Additionally, these studies had complex classification and presentation. Nor did these studies elaborate on the distribution of the associated CHD's complexity, the various segmental connections, and associated CHD among the four visceroatrial situs.

Methods

We retrospectively reviewed the medical records of 211 children with primary dextrocardia. We used a segmental approach to diagnose CHD. We then analyzed and compared the distribution of the above-mentioned issues among the four visceroatrial situs.

Results

Dextrocardia occurred most commonly with situs inversus (52.6%), followed by situs solitus (28.4%), asplenia (17.1%), and polysplenia (1.9%). Although some patients had a structurally normal heart (22.7%) or they were associated with simple CHD (17.5%), most patients had complex CHD (59.7%) consisting of a single ventricle (34.6%) or conotruncal anomaly (25.1%) (double-outlet right ventricle [7.6%], corrected transposition of the great arteries [6.2%], complete transposition of the great arteries [5.7%], tetralogy of Fallot [4.7%], etc.). Situs inversus or polysplenia had a higher prevalence of a structurally normal heart or associated with simple CHD, two patent atrioventricular (AV) valves connections, and biventricular AV connections. Situs solitus or asplenia had a higher prevalence of associated complex CHD, common AV valve connection, univentricular AV connection, pulmonary outflow tract obstruction, and anomalous pulmonary venous drainage.

Conclusion

Our study finds that situs inversus is the most common visceroatrial situs in dextrocardia. Although some patients had a structurally normal heart or were associated with simple CHD, most patients have associated complex CHD consisting of a single ventricle or conotruncal anomaly. Dextrocardia is associated with a higher incidence of complex CHD in situs solitus and asplenia groups than in situs inversus and polysplenia groups.
背景以往关于先天性心脏病(CHD)伴右心房缺血的研究都是基于选择性的患者数据库,并不能反映一般人群中右心房缺血的全部情况。此外,这些研究的分类和表现形式也很复杂。这些研究也没有详细阐述相关 CHD 的复杂性、各种节段连接以及相关 CHD 在四个内脏心房位点之间的分布情况。方法我们回顾性地查看了 211 名原发性右心室缺血患儿的病历。我们采用节段法诊断 CHD。方法我们回顾性地查阅了 211 名原发性右心室缺血患儿的病历,并采用分段法对其进行了诊断,然后分析和比较了上述问题在四种内脏心房位置中的分布情况。虽然有些患者心脏结构正常(22.7%)或伴有简单的先天性心脏病(17.5%),但大多数患者都伴有复杂的先天性心脏病(59.7%),包括单心室(34.6%)或脐带异常(25.1%)(双出口右心室[7.6%]、矫正性大动脉转位[6.2%]、完全性大动脉转位[5.7%]、法洛氏四联症[4.7%]等)。在心脏结构正常或伴有单纯先天性心脏病、两个房室瓣连接通畅和双心室房室瓣连接的情况下,坐骨神经反流或多脾畸形的发病率较高。我们的研究发现,倒置位是右心室突出症中最常见的内脏心房位。尽管有些患者心脏结构正常或伴有简单的先天性心脏病,但大多数患者伴有复杂的先天性心脏病,包括单心室或圆锥心室异常。与坐位倒置和多脾畸形组相比,右心室与坐位和脾畸形组的复杂先天性心脏病发病率更高。
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引用次数: 0
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Pediatrics and Neonatology
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