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Disseminated Postnatal Cytomegalovirus Infection in a Preterm Neonate: Autopsy Case Report 一例早产新生儿的传播性产后巨细胞病毒感染尸检报告
Pub Date : 2021-05-31 DOI: 10.5385/NM.2021.28.2.83
K. Kim, E. Kim, Sung-Hye Park, Y. Kim, S. Shin, Han-Suk Kim
Treatment guidelines for postnatal cytomegalovirus (pCMV) infection in preterm have not been established yet. Neutropenia, thrombocytopenia, hepatitis, colitis, and sepsis-like disease are among the clinical manifestations, which range from moderate to serious. We present a case of autopsy diagnosed as pCMV infection in a premature infant delivered at gestational age of 24 weeks and 5 days. On the 7th and 14th days of birth, urinary CMV polymerase chain reaction samples were negative, ruling out congenital CMV infection. However, autopsy examination revealed that the patient had disseminated pCMV infection. CMV inclusion bodies were found in the majority of tissues, including the lung, liver, pancreas, breast, kidney, and adrenal gland, but not the placenta. The thymus exhibited significant cortical atrophy and T-cell immunodeficiency, possibly induced by dexamethasone treatment for bronchopulmonary dysplasia or by pCMV infection itself. If dexamethasone treatment is extended or high doses are considered, it may be beneficial to test the CMV infection status to prevent aggravation of infection. This case demonstrates that, de spite the low prevalence, pCMV infection should be considered a differential diag nosis in preterm if other conditions or etiology cannot justify clinical deterioration.
早产儿出生后巨细胞病毒(pCMV)感染的治疗指南尚未制定。中性粒细胞减少症、血小板减少症、肝炎、结肠炎和败血症样疾病是临床表现,从中度到严重不等。我们报告了一例尸检诊断为pCMV感染的早产儿,其胎龄为24周零5天。出生第7天和第14天,尿液CMV聚合酶链反应样本呈阴性,排除先天性CMV感染。然而,尸检显示,该患者有传播性pCMV感染。CMV包涵体存在于大多数组织中,包括肺、肝、胰腺、乳腺、肾脏和肾上腺,但不存在于胎盘中。胸腺表现出明显的皮质萎缩和T细胞免疫缺陷,可能是地塞米松治疗支气管肺发育不良或pCMV感染本身引起的。如果延长地塞米松治疗或考虑高剂量治疗,检测CMV感染状态以防止感染加重可能是有益的。该病例表明,尽管患病率较低,但如果其他条件或病因不能证明临床恶化,则应将pCMV感染视为早产的鉴别诊断。
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引用次数: 0
Influence of Postconceptional Age on the Renal Biomarkers in Very-Low-Birth-Weight Infants 受孕后年龄对极低出生体重儿肾脏生物标志物的影响
Pub Date : 2021-05-31 DOI: 10.5385/NM.2021.28.2.65
Robert Lee, S. Shin, W. H. Jung, Jaehyun Park
Purpose: We investigated whether consecutive levels of new emerging renal bio­ markers, including serum cystatin C (CysC) and urinary neutrophil gelatinase­asso­ ciated lipocalin (NGAL)/creatinine (Cr) ratio, were affected by postconceptional age in very­low­birth­weight (VLBW) infants. Methods: Repeatedly measured samples for each infant were divided into four groups according to postnatal age: at birth (stage I), 3 to 7 days postnatally (stage II), 8 to 28 days postnatally (stage III), and >28 days postnatally (stage IV). The association bet­ ween renal biomarkers and postconceptional age was assessed using Pearson’s cor­ relation coefficient, and the mean values of renal biomarkers in the four stages were compared using repeated­measures analysis of variance. Results: For samples measured at birth, serum CysC (r=–0.358, P=0.032) and urinary NGAL/Cr ratio (r=–0.522, P=0.001) were negatively correlated with gestational age, whereas serum Cr (r=0.148, P=0.390) was not. In addition, for all samples measured, serum CysC (r=–0.209, P=0.012), urinary NGAL/Cr ratio (r=–0.536, P<0.001), and serum Cr (r=–0.311, P<0.001) were negatively correlated with postconceptional age. Compared with the mean values of the postnatal age­specific stages, serum CysC showed no significant differences in any of the four stages. However, the urinary NGAL/Cr ratio in stage IV was significantly different from those in stages I to III. Conclusion: Although urinary NGAL/Cr ratio and serum CysC were negatively cor­ related with postconceptional age considering renal development, serum CysC showed no significant differences in any of the four postnatal age­specific stages. Urinary NGAL/Cr ratio at >28 days postnatally seems to be more affected by post­ conceptional age than serum CysC in VLBW infants.
目的:我们研究了极低出生体重(VLBW)婴儿的连续新出现的肾脏生物标志物水平,包括血清胱抑素C (CysC)和尿中性粒细胞明胶酶相关脂钙素(NGAL)/肌酐(Cr)比值是否受到孕后年龄的影响。方法:将每个婴儿的重复测量样本根据出生年龄分为4组:出生时(I期)、出生后3 ~ 7天(II期)、出生后8 ~ 28天(III期)和出生后0 ~ 28天(IV期)。采用Pearson相关系数评估肾脏生物标志物与怀孕后年龄的相关性,并采用重复测量方差分析比较4个阶段肾脏生物标志物的平均值。结果:出生时血清CysC (r= -0.358, P=0.032)和尿NGAL/Cr比值(r= -0.522, P=0.001)与胎龄呈负相关,而血清Cr (r=0.148, P=0.390)与胎龄无关。此外,对于所有测量的样本,VLBW婴儿的血清CysC (r= - 0.209, P=0.012),尿NGAL/Cr比值(r= - 0.536, P28天)似乎更受孕后年龄的影响,而不是血清CysC。
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引用次数: 0
A Neonate Diagnosed with Wolff-Parkinson-White Syndrome Presenting with Cardiogenic Shock 一名诊断为Wolff-Parkinson-White综合征并伴有心源性休克的新生儿
Pub Date : 2021-05-31 DOI: 10.5385/NM.2021.28.2.77
Jihyun Ha, Sun Hyang Lee, G. Park, Young-Lim Shin, Sung Shin Kim, Mi-Ae Jang
We present the case of a healthy 28-day-old female full-term neonate who was admitted to the neonatal intensive care unit for severe metabolic acidosis, hypoglycemia, and an initial sinus rhythm. The first diagnostic hypothesis was hypovolemic shock, and fluid resuscitation was started immediately. During fluid therapy, cardiovascular collapse occurred with supraventricular tachycardia. The latter was successfully treated with adenosine and beta-blockers. After 8 days, electrocardiography showed ventricular pre-excitation, and Wolff-Parkinson-White syndrome was diagnosed. A novel variant of the MYL2 gene that is related to hypertrophic cardiomyopathy and conduction defect was found after discharge. Cardiogenic shock should be considered, despite being a rare cause of shock in neonates.
我们报告了一例健康的28天大的足月女性新生儿,她因严重的代谢性酸中毒、低血糖和最初的窦性心律而住进新生儿重症监护室。第一个诊断假设是低血容量性休克,并立即开始液体复苏。在液体治疗过程中,心血管塌陷伴室上性心动过速。后者用腺苷和β受体阻滞剂成功治疗。8天后,心电图显示心室预激,诊断为Wolff-Parkinson-White综合征。出院后发现了一种与肥厚型心肌病和传导缺陷有关的MYL2基因的新变体。尽管心源性休克是新生儿休克的罕见原因,但仍应考虑。
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引用次数: 2
Intussusception and Jejunal Atresia Caused by an Ectopic Pancreas in a Newborn 新生儿胰腺异位引起的肠套叠和空肠闭锁
Pub Date : 2021-05-31 DOI: 10.5385/NM.2021.28.2.72
Han-Sol Kim, S. Lee, Song-Hee Han, Soon-Hyun Nam, Chae-Ku Jo, M. Kim
Ectopic pancreas is defined as an abnormally located pancreatic tissue not sufficiently connected with the normal pancreas, which rarely occurs in neonates. To our know­ ledge, only a few cases of ectopic pancreas have been reported in newborns in South Korea. We report a case of ectopic pancreas as the cause of intussusception and jejunal atresia in a newborn. This clinical association is extremely rare, and this is the first report in South Korea.
异位胰腺是指位置异常的胰腺组织,与正常胰腺的连接不充分,很少发生在新生儿身上。据我们所知,在韩国,只有少数新生儿出现异位胰腺的病例。我们报告了一例异位胰腺作为新生儿肠套叠和空肠闭锁的原因。这种临床关联极为罕见,这是韩国的首次报告。
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引用次数: 1
A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing 韩国一例携带KLHL40突变的新生儿Nemaline肌病的下一代测序诊断
Pub Date : 2021-05-31 DOI: 10.5385/NM.2021.28.2.89
Y. Suh, Y. Sohn, M. Park, Jang Hoon Lee
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prog­ nosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hy potonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS­based gene panel sequencing was performed. Compound hetero­ zygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.
Nemaline肌病是一种遗传异质性神经肌肉疾病,也是最常见的先天性肌病之一。临床表现通常因发病年龄而异。新生儿神经性肌病的预后最差,主要是由于呼吸衰竭。已经鉴定了几个与神经性肌病相关的基因,包括NEB、ACTA1、TPM3、TPM2、TNNT1、CFL2、KBTBD13、KLHL40、KLHL41、LMOD3和KBTBD13。在这里,我们报道了一名患有原发性肌病的韩国新生儿女性患者,该患者携带KLHL40基因的复合杂合突变,这是通过下一代测序(NGS)发现的。患者在出生后表现为产后发绀、呼吸衰竭、吞咽困难和强直。为了确定新生儿肌病的遗传原因,进行了基于NGS的基因组测序。在KLHL40:c.中检测到复合杂合子致病性变体[1405G>T];[1582G>A](p.[Gly469cys];[Glu528Lys])。与传统的序列单基因测序相比,NGS可以以更低的成本快速准确地进行诊断,这在遗传异质性疾病(如肌病)中非常有利。快速诊断将有助于高效及时的遗传咨询、疾病预后预测和治疗方法的制定。
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引用次数: 0
A Case of Midgut Volvulus with Gastric Perforation and Periveintricular Leukomalacia in a Term Infant 中肠扭转合并胃穿孔及静脉周围白质软化一例足月儿
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.53
S. Park, J. Hwang
Intestinal malrotation with midgut volvulus (MV) is a life-threatening surgical emer gency. Most events of MV occur in the neonatal period with bilious vomiting, abdominal distension, feeding intolerance, and bloody stools. Neonatal gastric perforation (GP) is a rare and life-threatening condition associated with high mortality. It occurs either in an idiopathic form or in association with gastrointestinal anomalies such as duodenal atresia and MV. The pathogenesis of both MV and GP is related to ischemic change and inflammatory response. MV and GP can lead to morbidities such as sepsis, intestinal ischemia, and organ failure, but not neurologic problems. We herein report the case of a term infant at 5 days after birth, with MV accompanied by GP, who developed periventricular leukomalacia.
肠旋转不良伴中肠扭转(MV)是一种危及生命的外科紧急情况。大多数MV发生在新生儿期,伴有胆汁性呕吐、腹胀、进食不耐受和便血。新生儿胃穿孔(GP)是一种罕见且危及生命的高死亡率疾病。它要么以特发性形式发生,要么与十二指肠闭锁和MV等胃肠道异常有关。MV和GP的发病机制都与缺血性变化和炎症反应有关。MV和GP会导致败血症、肠缺血和器官衰竭等疾病,但不会导致神经系统问题。我们在此报告了一例足月婴儿在出生后5天出现室周白质软化症,MV伴GP。
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引用次数: 0
Effects of Oxygen Saturation Fluctuations on Retinopathy in Infants Younger than 30 Weeks’ Gestational Age 血氧饱和度波动对30周以下婴儿视网膜病变的影响
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.7
C. Jeon, Ji Su Kim, Bumhee Park, Jang Hoon Lee
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引用次数: 0
Oral Administration of Nonionic Water-Soluble Contrast Media to Treat Meconium Obstruction in Premature Infants: A Preliminary Study 口服非离子型水溶性造影剂治疗早产儿胎便梗阻的初步研究
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.22
H. Hong, Sung Shin Kim, G. Park
Purpose: Meconium obstruction of prematurity (MOP) predisposes premature in­ fants to intestinal perforation and prolonged hospitalization if not diagnosed and treated promptly. A standard contrast enema is less effective to treat infants with distal ileal obstructions because the contrast may not reach the obstructed areas. In an effort to avoid risky surgery, we administered oral contrast media to seven clini­ cally diagnosed patients with MOP whose obstructions were not relieved via conven­ tional sonography­guided contrast enema. We retrospectively evaluated whether oral nonionic water­soluble contrast media relieves MOP. Methods: Seven of 67 premature infants with MOP were administered oral contrast media from June 2015 to January 2019. Patients were followed­up radiographically for bowel distention and evacuation of contrast media after oral administration. We recorded radiographic improvements, meconium evacuation, time to first feeding after oral contrast media administration, maternal history, and neonatal clinical factors. Results: We evaluated five male and two female infants. The median gestational ages and body weights at birth were 27 weeks and 890 g, respectively. Radiography in five infants revealed multiple distended intestinal loops without air­fluid interfaces. Two infants had gasless abdomens, in which only stomach gas was visible. Oral contrast media (median, 2.5 mL) were administered at a median age of 7 days; five infants (5/7, 71.4%) responded to this treatment. The remaining two infants, who had ileal stenosis and hypoganglionosis, were surgically managed. Five infants (5/7, 71.4%) had maternal risk factors, and two (28.6%) were small for gestational age. Conclusion: Nonionic oral water­soluble contrast medium can serve as a valuable adjunct treatment in premature infants with meconium obstruction.
目的:早产胎便梗阻(MOP)如不及时诊断和治疗,易导致早产婴儿肠穿孔和延长住院时间。标准的造影剂灌肠治疗婴儿回肠远端梗阻的效果较差,因为造影剂可能无法到达梗阻区域。为了避免手术风险,我们给7例经临床诊断为MOP的患者口服造影剂,这些患者的阻塞不能通过常规超声引导下的造影剂灌肠来缓解。我们回顾性评价口服非离子型水溶性造影剂是否能缓解MOP。方法:2015年6月至2019年1月,对67例MOP早产儿中的7例给予口服造影剂。对患者进行口服给药后的肠胀和造影剂排出情况的影像学随访。我们记录了影像学改善、胎粪排出、口服造影剂后首次喂养的时间、产妇病史和新生儿临床因素。结果:我们评估了5名男婴和2名女婴。中位胎龄和出生时体重分别为27周和890克。5例婴儿x线摄影显示多个膨胀的肠袢,无气液界面。两名婴儿腹部没有气体,只能看到胃里的气体。在平均年龄为7天时给予口服造影剂(中位数,2.5 mL);5名婴儿(5/ 7,71.4%)对这种治疗有反应。其余两名婴儿,谁是回肠狭窄和神经节减少症,手术处理。5例(5/7,71.4%)存在母体危险因素,2例(28.6%)小于胎龄。结论:非离子型口服水溶性造影剂可作为早产儿胎便梗阻的辅助治疗手段。
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引用次数: 1
Management of Persistent Pulmonary Hypertension in Preterm Infants 早产儿持续性肺动脉高压的处理
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.1
B. Lee
Persistent pulmonary hypertension of the newborn (PPHN) is a consequence of the failure of a decrease in the elevated pulmonary vascular resistance after birth. Pul­ monary vasodilators, including inhaled nitric oxide (iNO), have been the mainstream of targeted therapy for PPHN, but no drugs have been proven to be effective in preterm infants with PPHN. The fetus remains hemodynamically stable despite lower arterial oxygen tension and pulmonary blood flow as compared to full­term newborns. This adaptation is due to the lower oxygen requirement and high oxygen­ carrying capacity of fetal circulation. The immature lungs of preterm infants are more vulnerable to reactive oxygen species, and the response of pulmonary vascular dilatation to blood oxygen tension is blunted in preterm infants. Recently, iNO has been reported to be effective in a selected group of preterm infants, such as those with prolonged preterm rupture of membrane­oligohydramnios­pulmonary hypo­ plasia sequence. PPHN in preterm infants, along with maximum supportive treat­ ment based on fetal physiology and meticulous assessment of cardiovascular function, is in dire need of new treatment guidelines, including optimal dosing strategies for pulmonary vasodilators.
新生儿持续性肺动脉高压(PPHN)是出生后肺血管阻力升高未能降低的结果。包括吸入型一氧化氮(iNO)在内的肺血管扩张剂已成为PPHN靶向治疗的主流,但尚未有药物被证明对PPHN早产儿有效。与足月新生儿相比,尽管动脉氧压和肺血流量较低,胎儿仍保持血流动力学稳定。这种适应是由于胎儿循环的低需氧量和高携氧能力。早产儿未成熟的肺更容易受到活性氧的影响,肺血管扩张对血氧张力的反应在早产儿中减弱。最近,iNO已被报道对一些早产儿有效,例如那些有长时间的早破膜-羊水过少-肺发育不全序列的早产儿。早产儿的PPHN,以及基于胎儿生理学和细致心血管功能评估的最大支持治疗,迫切需要新的治疗指南,包括肺血管扩张剂的最佳剂量策略。
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引用次数: 0
Two Cases of Gastric Volvulus in Neonates 新生儿胃扭转2例
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.36
Min Yeong Kim, M. Park, Jang Hoon Lee
Gastric volvulus in neonates is an extremely uncommon disorder, which is challen­ ging to diagnose because of its non­specific clinical manifestations. Early diagnosis of gastric volvulus is important to avoid life­threatening complications, such as gastric ischemia, necrosis, and perforation. A definitive diagnosis could be made with radiological upper gastrointestinal series. In this report, we present two cases of neonate gastric volvulus, which were confirmed by radiological upper gastrointe­ stinal series, and the patients underwent surgical treatment.
新生儿胃扭转是一种极为罕见的疾病,由于其临床表现不明确,诊断困难。早期诊断胃扭转对于避免危及生命的并发症,如胃缺血、坏死和穿孔是很重要的。明确的诊断可通过上消化道影像学检查。本文报告2例新生儿胃扭转,经上消化道影像学检查证实,均行手术治疗。
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引用次数: 0
期刊
Neonatal Medicine
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