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Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect 先天性皮肤发育不全及颅骨缺损所致智力迟钝1例
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.48
Hyunsoo Cho, J. Hwang
Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.
先天性皮肤发育不全(ACC)是一种罕见的先天性疾病,其特征是皮肤缺陷累及表皮、真皮、皮下组织、骨骼,有时也累及硬脑膜。大约70%的病例通常会影响头皮,但颈部、躯干和四肢也会受到影响。ACC既可以作为一种孤立的疾病发生,也可以与其他异常和先天性综合征相关联,它可以遗传或零星地获得。发病率和死亡率与颅骨缺损、硬脑膜缺损和其他多发性异常有关。我们在此报告的情况下,一个女婴,与一个大的头皮缺损伴随颅骨缺损注意到出生,谁在学龄前发展智力迟钝。
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引用次数: 0
Congenital Long QT Syndrome Type 8 Characterized by Fetal Onset of Bradycardia and 2:1 Atrioventricular Block 以胎儿心动过缓和2:1房室传导阻滞为特征的先天性8型长QT综合征
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.59
Donghoon Joo, H. Lee, Tae Hong Kim, Hoon Ko, Joung-Hee Byun
An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal onset of LQTS imposes high risk of life-threatening tachyarrhythmias and sudden cardiac death. Here, we report the case of a female newborn with fetal onset of bradycardia and a 2:1 atrioventricular (AV) block. After birth, a 12-lead electrocardiogram (ECG) revealed bradycardia with QT prolongation of a corrected QT (QTc) interval of 680 ms and pseudo 2:1 AV block. Genetic testing identified a heterozygous Gly402Ser (c.1204G>A) mutation in CACNA1C, confirming the diagnosis of LQTS type 8 (LQT8). The patient received propranolol at a daily dose of 2 mg/kg. Mexiletine was subsequently administered owing to the sustained prolongation of the QT interval and pseudo 2:1 AV block. One week after mexiletine inception, the ECG still showed QT interval prolongation (QTc, 632 ms), but no AV block was observed. There were no life-threatening tachyarrhythmias in a follow-up period of 13 months.
胎儿心动过缓的一个重要但罕见的原因是长QT综合征(LQTS)。先天性LQTS是一种由编码心脏离子通道蛋白的基因突变引起的离子通道病。LQTS的胎儿发病会带来危及生命的快速性心律失常和心源性猝死的高风险。在此,我们报告了一例女性新生儿,胎儿出现心动过缓和2:1房室传导阻滞。出生后,12导联心电图(ECG)显示心动过缓,校正QT(QTc)间期延长680ms,假2:1房室传导阻滞。基因检测在CACNA1C中发现了一个杂合子Gly402Ser(c.1204G>a)突变,证实了LQTS 8型(LQT8)的诊断。患者接受普萘洛尔治疗,每日剂量为2 mg/kg。由于QT间期持续延长和假2:1房室传导阻滞,随后给药了美西律。美西律起效一周后,心电图仍显示QT间期延长(QTc,632ms),但未观察到房室传导阻滞。在13个月的随访期内,没有出现危及生命的快速性心律失常。
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引用次数: 0
Intussusception in Neonates: Clinical Characteristics of Eight Cases in a Single Center 新生儿肠套叠单中心8例临床特点
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.29
Yong-gi Ahn, G. Lim, E. Hwang, Ki Won Oh, M. Cho
Purpose: Intussusception is the most common cause of bowel obstruction in children; however, it is rarely diagnosed in newborn infants. This study aimed to describe the clinical features of intussusception in newborn infants. Methods: Medical records of eight patients diagnosed with intussusception during the newborn period at Ulsan University Hospital between March 2007 and March 2020 were retrospectively reviewed. Results: Among the eight cases, two occurred in the intrauterine period and six oc­ curred in the postnatal period. Intrauterine intussusception presented with symptoms of bowel obstruction within 1 to 2 days after birth, and ileal atresia was diagnosed simultaneously through exploratory laparotomy. All the postnatal patients were extre­ mely low birth weight infants (median gestational age and birth weight: 25 weeks and 745 g, respectively). Four cases were diagnosed preoperatively using abdominal ultrasonography. One patient was diagnosed by exploratory laparotomy because the clinical symptoms were nonspecific and difficult to differentiate from those of necrotizing enterocolitis, a more prevalent complication in preterm infants. The site of intussusception in all six patients was the small bowel. Meckel’s diverticulum (one case) and meconium obstruction (two cases) were found to be the lead point. Conclusion: Neonatal intussusception tends to show different clinical features ac­ cording to its period of occurrence. Intussusception, especially in preterm infants, has nonspecific clinical features; therefore, clinicians should always be cautious of this disease for its early diagnosis.
目的:肠套叠是儿童肠梗阻最常见的原因;然而,它很少在新生儿中被诊断出来。本研究旨在描述新生儿肠套叠的临床特点。方法:回顾性分析2007年3月至2020年3月在蔚山大学医院诊断为新生儿期肠套叠的8例患者的医疗记录。结果:8例中,2例发生在宫内,6例发生在产后。宫内肠套叠在出生后1至2天内出现肠梗阻症状,同时通过剖腹探查诊断为回肠闭锁。所有产后患者均为极低出生体重儿(中位胎龄和出生体重分别为25周和745g)。术前应用腹部超声诊断4例。一名患者通过剖腹探查术确诊,因为其临床症状是非特异性的,很难与坏死性小肠结肠炎区分开来,后者是早产儿中更常见的并发症。所有6名患者的肠套叠部位均为小肠。Meckel’s憩室(1例)和胎粪梗阻(2例)被发现是引导点。结论:新生儿肠套叠的发生期不同,临床表现也不同。肠套叠,尤其是早产儿,具有非特异性的临床特征;因此,临床医生应始终谨慎对待这种疾病的早期诊断。
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引用次数: 0
Transient Neonatal Diabetes Mellitus Managed with Continuous Subcutaneous Insulin Infusion (CSII) and Continuous Glucose Monitoring 持续皮下胰岛素输注(CSII)和持续血糖监测治疗短暂性新生儿糖尿病
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.41
Min Soo Kim, Sung Eun Kim, Nayeong Lee, Seulki Kim, S. Kim, W. Cho, K. Cho, M. Jung, Byung-Kyu Suh, M. Ahn
Neonatal diabetes mellitus can be categorized as transient, permanent, or syndromic, and approximately half of the cases are transient. We present a case involving a term newborn who showed overt progression of transient neonatal diabetes mellitus, with complete remission within 6 months. On the second day of life, the patient pre­ sented with tachypnea, hyperglycemia, and decreased serum levels of C­peptide and insulin. Continuous subcutaneous infusion of insulin and continuous glucose monitoring were well tolerated. The patient showed a normal growth pattern, with no hyperglycemic or hypoglycemic episodes at 6 months of age. As it is rare and often asymptomatic, hyperglycemia may be attributed to various factors, including intrauterine environment, perinatal stress, and diverse genetic background. There­ fore, consistent blood glucose monitoring and prompt early insulin therapy are crucial for any term newborns with persistent hyperglycemia, to prevent further diabetic complications. Moreover, continuous subcutaneous insulin infusion and the utilization of continuous glucose monitoring devices are the most effective and practical management strategies.
新生儿糖尿病可分为短暂性、永久性或综合征,大约一半的病例是短暂性的。我们报告了一个涉及足月新生儿的病例,他表现出短暂性新生儿糖尿病的明显进展,并在6个月内完全缓解。在生命的第二天,患者出现呼吸急促、高血糖,血清C肽和胰岛素水平下降。持续皮下输注胰岛素和持续血糖监测耐受性良好。患者在6个月大时表现出正常的生长模式,没有高血糖或低血糖发作。由于高血糖是罕见的,通常是无症状的,它可能归因于多种因素,包括宫内环境、围产期压力和不同的遗传背景。因此,持续的血糖监测和及时的早期胰岛素治疗对于任何患有持续高血糖的足月新生儿来说都是至关重要的,以防止进一步的糖尿病并发症。此外,持续皮下胰岛素输注和使用连续血糖监测设备是最有效和最实用的管理策略。
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引用次数: 0
Cerebral Oxygenation during Apnea in Preterm Infants: Effects of Accompanying Peripheral Oxygen Desaturation 早产儿呼吸暂停期间脑氧合:伴随外周氧饱和度的影响
Pub Date : 2021-02-28 DOI: 10.5385/NM.2021.28.1.14
Seoyoen Choi, Juyoung Lee, Soo Kyung Nam, Y. Jun
Purpose: Premature infants have immature respiratory control and cerebral autore­ gulation. We aimed to investigate changes in cerebral oxygenation during apnea with and without peripheral oxygen desaturation in premature infants. Methods: This prospective observational study was conducted at Inha University Hospital. Near­infrared spectroscopy (NIRS)­monitored regional cerebral oxygen sa­ turation (rScO2) and pulse oximeter­monitored peripheral oxygen saturation (SpO2) were assessed during the first week of life in 16 stable, spontaneously breathing pre­ term infants. Apneic episodes that lasted for ≥20 seconds or were accompanied by desaturation or bradycardia were included for analysis. The average rScO2 value during the 5­minute prior to apnea (baseline), the lowest rScO2 value following apnea (nadir), the time to recover to baseline (recovery time), the area under the curve (AUC), and the overshoot above the baseline after recovery were analyzed. Results: The median gestational age and birth weight of the infants were 29.2 weeks (interquartile range [IQR], 28.5 to 30.5) and 1,130 g (IQR, 985 to 1,245), respectively. A total of 73 apneic episodes were recorded at a median postnatal age of 2 days (IQR, 1 to 4). The rScO2 decreased significantly following apneic episodes regardless accompanied desaturation. There were no differences in baseline, nadir, or overshoot rScO2 between the two groups. However, the rScO2 AUC for apnea with desaturation was significantly higher than that for apnea without desaturation. Conclusion: Cerebral oxygenation can significantly decrease during apnea, especially when accompanied by reduced SpO2. These results add the evidence for the clinical utility of NIRS in monitoring premature infants.
目的:早产儿呼吸控制和大脑自主调节不成熟。我们的目的是研究早产儿在有和没有外周氧饱和度降低的呼吸暂停期间大脑氧合的变化。方法:本前瞻性观察研究在仁荷大学医院进行。在16名稳定、自主呼吸的早产儿出生的第一周,评估了近红外光谱(NIRS)监测的区域脑血氧饱和度(rScO2)和脉搏血氧计监测的外周血氧饱和度(SpO2)。将持续≥20秒或伴有去饱和或心动过缓的窒息发作纳入分析。分析呼吸暂停前5分钟的平均rScO2值(基线)、呼吸暂停后的最低rScO2数值(最低点)、恢复到基线的时间(恢复时间)、曲线下面积(AUC)和恢复后高于基线的超调。结果:婴儿的中位胎龄和出生体重分别为29.2周(四分位间距[IQR],28.5至30.5)和1130 g(IQR,985至1245)。在出生后2天的中位年龄(IQR,1-4),共记录了73次呼吸暂停发作。呼吸暂停发作后,rScO2显著下降,而与去饱和无关。两组之间在基线、最低点或超调rScO2方面没有差异。然而,有去饱和的呼吸暂停的rScO2 AUC显著高于无去饱和的通气暂停。结论:脑氧合在呼吸暂停期间可显著降低,尤其是在伴有SpO2降低的情况下。这些结果为NIRS在早产儿监测中的临床应用提供了证据。
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引用次数: 3
Trends and Characteristics of Mortality Associated with Congenital Anomalies in Korean Children under 5 Years of Age 韩国5岁以下儿童先天性畸形死亡率的趋势和特点
Pub Date : 2021-01-01 DOI: 10.5385/nm.2021.28.3.99
S. Kim, Min Jung Jang, Young Hwa Song, Seung Yeon Jung, J. Oh, J. Lim
Purpose: Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age.Methods: Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies.Results: Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years.Conclusion: The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.
目的:对先天性畸形的患病率和婴儿死亡率进行了研究;然而,关于儿童死亡率的研究很少。因此,我们评估了在韩国出生的5岁以内死亡的儿童中与先天性异常相关的死亡特征。方法:回顾性分析韩国国家统计局微数据综合服务提供的2010 - 2013年5岁以下儿童出生-死亡队列相关数据,以及1999 - 2019年按年龄分类的死亡原因统计数据。我们调查了与先天性异常相关的死亡率的趋势和特点。结果:在1,858,945例儿童死亡中,5岁以下儿童死亡6,510例,其中先天性异常死亡1,229例,其他原因死亡5,281例。与先天性异常相关的死亡占所有死亡的18.9%。不同系统的先天性异常比较,以心血管系统异常最为常见(52.6%)。与先天性异常和其他原因有关的死亡率在21年内呈现类似的下降趋势。结论:新生儿前5年先天性异常死亡率与先天性异常患病率的上升趋势无明显差异,反而呈下降趋势。与先天性异常有关的死亡占所有婴儿死亡的20.5%,占儿童死亡的12.1%,由于婴儿和儿童的主要死亡原因略有不同,需要持续和仔细监测。
{"title":"Trends and Characteristics of Mortality Associated with Congenital Anomalies in Korean Children under 5 Years of Age","authors":"S. Kim, Min Jung Jang, Young Hwa Song, Seung Yeon Jung, J. Oh, J. Lim","doi":"10.5385/nm.2021.28.3.99","DOIUrl":"https://doi.org/10.5385/nm.2021.28.3.99","url":null,"abstract":"Purpose: Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age.Methods: Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies.Results: Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years.Conclusion: The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71112975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Targeting Risk Factors for the Control of Central Line-Associated Bloodstream Infection in the Neonatal Intensive Care Unit: A Single Tertiary Center Experience 在新生儿重症监护室控制中央静脉相关血流感染的目标危险因素:单一三级中心经验
Pub Date : 2021-01-01 DOI: 10.5385/nm.2021.28.3.116
Ji-hoon Jeong, Y. Kwun, Min-Ju Kim, S. Choi, Euiseok Jung, B. Lee, Ki-Soo Kim, E. Kim
Purpose: The aim of this study was to estimate the effect of targeting risk factors for the control of central line-associated bloodstream infection (CLABSI) among high-risk infants in a tertiary neonatal intensive care unit (NICU).Methods: Infants admitted to the NICU and diagnosed with CLABSI from January to December 2013 were eligible for inclusion to the study. The CLABSI group (n=47) was matched in a 1:2 ratio to the control group (n=94) based on gestational age, birth weight, and Score for Neonatal Acute Physiology-II. Risk factors for CLABSI were identified using the Cox proportional hazard model, and analysis of the effect of these risk factors targeting infection control was performed.Results: The risk factors associated with CLABSI were prolonged central line dwell days (adjusted hazard ratio [HR], 1.028; 95% confidence interval [CI], 1.011 to 1.045; P=0.001), use of a silicone catheter (adjusted HR, 5.895; 95% CI, 1.893 to 18.355; P=0.002), surgical treatment (adjusted HR, 3.793; 95% CI, 1.467 to 9.805; P=0.006), and less probiotic supplementation (adjusted HR, 0.254; 95% CI, 0.068 to 0.949; P=0.042). By targeting these risk factors with a quality improvement initiative, the mean CLABSI incidence rate per 1,000 catheter-days decreased from 6.6 to 3.1 (P=0.004).Conclusion: Targeting risk factors for infection control significantly reduced the rate of CLABSI among high-risk infants in the NICU.
目的:本研究的目的是评估靶向危险因素对控制三级新生儿重症监护病房(NICU)高危婴儿中央线相关血流感染(CLABSI)的影响。方法:2013年1月至12月入住NICU并诊断为CLABSI的婴儿符合纳入研究的条件。CLABSI组(n=47)与对照组(n=94)根据胎龄、出生体重和新生儿急性生理评分(Score for Neonatal Acute Physiology-II)按1:2的比例配对。采用Cox比例风险模型确定CLABSI的危险因素,并分析这些危险因素对感染控制的影响。结果:与CLABSI相关的危险因素为中心静脉留置时间延长(校正风险比[HR], 1.028;95%置信区间[CI], 1.011 ~ 1.045;P=0.001),硅胶导管的使用(调整后的风险比,5.895;95% CI, 1.893 ~ 18.355;P=0.002)、手术治疗(调整后HR为3.793;95% CI, 1.467 ~ 9.805;P=0.006),益生菌补充量较少(调整后HR为0.254;95% CI, 0.068 ~ 0.949;P = 0.042)。通过质量改进计划针对这些危险因素,CLABSI的平均发病率从每1000个导管日6.6下降到3.1 (P=0.004)。结论:针对高危因素进行感染控制可显著降低新生儿重症监护病房高危儿CLABSI发生率。
{"title":"Targeting Risk Factors for the Control of Central Line-Associated Bloodstream Infection in the Neonatal Intensive Care Unit: A Single Tertiary Center Experience","authors":"Ji-hoon Jeong, Y. Kwun, Min-Ju Kim, S. Choi, Euiseok Jung, B. Lee, Ki-Soo Kim, E. Kim","doi":"10.5385/nm.2021.28.3.116","DOIUrl":"https://doi.org/10.5385/nm.2021.28.3.116","url":null,"abstract":"Purpose: The aim of this study was to estimate the effect of targeting risk factors for the control of central line-associated bloodstream infection (CLABSI) among high-risk infants in a tertiary neonatal intensive care unit (NICU).Methods: Infants admitted to the NICU and diagnosed with CLABSI from January to December 2013 were eligible for inclusion to the study. The CLABSI group (n=47) was matched in a 1:2 ratio to the control group (n=94) based on gestational age, birth weight, and Score for Neonatal Acute Physiology-II. Risk factors for CLABSI were identified using the Cox proportional hazard model, and analysis of the effect of these risk factors targeting infection control was performed.Results: The risk factors associated with CLABSI were prolonged central line dwell days (adjusted hazard ratio [HR], 1.028; 95% confidence interval [CI], 1.011 to 1.045; P=0.001), use of a silicone catheter (adjusted HR, 5.895; 95% CI, 1.893 to 18.355; P=0.002), surgical treatment (adjusted HR, 3.793; 95% CI, 1.467 to 9.805; P=0.006), and less probiotic supplementation (adjusted HR, 0.254; 95% CI, 0.068 to 0.949; P=0.042). By targeting these risk factors with a quality improvement initiative, the mean CLABSI incidence rate per 1,000 catheter-days decreased from 6.6 to 3.1 (P=0.004).Conclusion: Targeting risk factors for infection control significantly reduced the rate of CLABSI among high-risk infants in the NICU.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71112700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Implementation of the Feed and Swaddle Technique as a Non-Pharmacological Strategy to Conduct Brain Magnetic Resonance Imaging in Very Low Birth Weight Infants 在极低出生体重儿中实施饲料和襁褓技术作为非药物策略进行脑磁共振成像
Pub Date : 2021-01-01 DOI: 10.5385/nm.2021.28.3.108
Y. Yoo, J. E. Park, M. Park, Jang Hoon Lee
Purpose: Magnetic resonance imaging (MRI) is a useful tool for evaluating brain injury and maturation in preterm infants and often requires sedation to acquire images of sufficient quality. Infant sedation is often associated with adverse events, despite extreme precautions. In this study, the swaddling technique was investigated as an alternative non-pharmacological strategy to obtain brain MRIs of sufficient quality.Methods: We applied the feed and swaddle technique during routine brain MRI as a quality improvement project and compared its morbidity with that of sedation in a historic age-matched group. Seventy-nine very low birth weight infants in the neonatal intensive care unit of Ajou University Hospital (Suwon, Korea) were enrolled. Thirty-two (40.5%) infants were in the feed and swaddling group, and 47 (59.5%) were in the sedation group.Results: The morbidity associated with the cardiopulmonary system (swaddling group vs. sedation group: 53.13% [n=17] vs. 63.83% [n=30], P=0.723) and central nervous system (40.63% [n=13] vs. 29.79% [n=14], P=0.217) were not significantly different between groups. The MRI failure rate was not significantly different (swaddling group vs. sedation group: 12.5% [n=4] vs. 4.3% [n=2], P=0.174). The MRI scanning time was longer in the swaddling group than in the sedation group (76.5±20.3 minutes vs. 61.5±13.6 minutes, P=0.001). Cardiopulmonary adverse events were significantly less common in the swaddling group than in the sedation group (3.13% [n=1] vs. 34.04% [n=16], P=0.002).Conclusion: The success rate of MRI was comparable between the swaddling technique and sedation. Furthermore, despite the drawback of prolonged scan time, cardiopulmonary adverse events are fewer with swaddling than with sedative agents. Therefore, swaddling can be an alternative to sedation or anesthesia when performing neonatal MRI scans.
目的:磁共振成像(MRI)是评估早产儿脑损伤和成熟的有用工具,通常需要镇静才能获得足够质量的图像。尽管采取了极端的预防措施,婴儿镇静往往与不良事件有关。在这项研究中,襁褓技术被研究作为一种替代的非药物策略,以获得足够质量的脑mri。方法:作为一项质量改进项目,我们在常规脑MRI中应用饲料和襁褓技术,并将其发病率与历史年龄匹配组的镇静发生率进行比较。入选了亚洲大学医院(韩国水原)新生儿重症监护病房的79名极低出生体重婴儿。喂养襁褓组32例(40.5%),镇静组47例(59.5%)。结果:与心肺系统相关的发病率(襁褓组与镇静组:53.13% [n=17] vs. 63.83% [n=30], P=0.723)和中枢神经系统相关的发病率(40.63% [n=13] vs. 29.79% [n=14], P=0.217)组间差异无统计学意义。两组MRI失败率差异无统计学意义(襁褓组与镇静组:12.5% [n=4]对4.3% [n=2], P=0.174)。包裹组MRI扫描时间明显长于镇静组(76.5±20.3 min vs. 61.5±13.6 min, P=0.001)。襁褓组心肺不良事件发生率明显低于镇静组(3.13% [n=1] vs. 34.04% [n=16], P=0.002)。结论:包裹术与镇静术的MRI成功率相当。此外,尽管有延长扫描时间的缺点,襁褓的心肺不良事件比镇静剂少。因此,在进行新生儿MRI扫描时,襁褓可以替代镇静或麻醉。
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引用次数: 1
Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea 常染色体隐性遗传与TCIRG1突变相关的婴儿恶性骨质疏松症:一例韩国新生儿低钙血症报告
Pub Date : 2021-01-01 DOI: 10.5385/nm.2021.28.3.133
Y. Oh, K. Choi, Y. Shin, Eun Ryoung Kim, J. Y. Kim, Min Sun Kim, S. Cho, D. Jin
Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.
骨质疏松症是指一组以骨质硬化和骨骼脆弱为特征的遗传性骨骼疾病。骨质疏松症可分为常染色体显性型、常染色体隐性型或x连锁型,它们在临床特征和疾病严重程度上可能有所不同。常染色体隐性骨质疏松症又称恶性骨质疏松症,发病较早,临床症状较严重,通常具有致命性。我们遇到了一个1天大的女婴,她通过阴道分娩足月出生,并发羊水粪染色,头盆腔比例失调和颈索。除了进行血液检查和胸部x光检查以筛查败血症,以及进行颅骨x光检查以排除头部损伤外,还提供了常规的新生儿护理。最初的血液检查显示低钙血症,第二天的后续检查仍然存在。x线检查显示骨密度弥漫性增加,颅骨呈“外星人”样。根据x线摄影和实验室结果,怀疑是婴儿形式的骨质疏松症,并进行基因检测以确定致病基因。最终,鉴定出T细胞免疫调节因子1,ATPase H+转运V0亚基a3 (TCIRG1)基因(c.292C>T)的杂合突变,使其成为韩国报道的第一例TCIRG1突变的新生儿恶性骨硬化病例。早发性低钙血症很常见,通常由早产、胎儿生长受限、母亲糖尿病、围产期窒息和生理性甲状旁腺功能低下引起。然而,如果低钙血症持续存在,我们建议考虑“婴儿骨质疏松症”作为新生儿低钙血症的罕见原因,并进行影像学检查以确定诊断。
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引用次数: 0
A Case-Control Study on the Predictors of Neonatal Near-Miss: Implications for Public Health Policy and Practice 新生儿未遂事件预测因素的病例对照研究:对公共卫生政策和实践的影响
Pub Date : 2021-01-01 DOI: 10.5385/nm.2021.28.3.124
A. Johnson, Sobin Sunny, Ramola Nikitha, Sulekha Thimmaiah, S. Rao
Purpose: Neonatal near miss (NNM) allows for the detection of risk factors associated with serious newborn complications and death, the prevention of which could reduce neonatal mortality. This study was conducted with the objective of identifying predictors for NNM in a tertiary hospital in Bangalore city.Methods: This was an unmatched case-control study involving 120 NNM cases and 120 controls. NNM was determined using Pileggi-Castro’s pragmatic and management criteria. Data was collected from in-patient hospital records and interviews of postpartum mothers. Multiple logistic regression of exposure variables was performed to calculate adjusted odds ratio (AOR) with 95% confidence interval (CI).Results: Significant predictors were maternal age ≥30 years (AOR, 5.32; 95% CI, 1.12 to 9.29; P=0.041), inadequate antenatal care (ANC) (AOR, 8.35; 95% CI, 1.98 to 51.12; P=0.032), <3 ultrasound scans during pregnancy (AOR, 12.5; 95% CI, 1.60 to 97.27; P=0.016), maternal anaemia (AOR, 18.96; 95% CI, 3.10 to 116.02; P=0.001), and any one obstetric complication (hypertensive disorder in pregnancy, diabetes in pregnancy, preterm premature rupture of membranes, prolonged labour, obstructed labour, malpresentation) (AOR, 4.34; 95% CI, 1.26 to 14.95; P=0.02).Conclusion: The predictors of NNM identified has important implications for public health policy and practice whose modifications can improve NNM. These include expanding essential ANC package to include ultrasound scans, ensuring World Health Organization recommendations of eight ANC visits, capacity building at all levels of health care to strengthen routine ANC and obstetric care for effective screening, referral and management of obstetric complications.
目的:新生儿近漏(NNM)允许检测与新生儿严重并发症和死亡相关的危险因素,预防这些危险因素可以降低新生儿死亡率。本研究在班加罗尔市的一家三级医院进行,目的是确定NNM的预测因素。方法:这是一项无与伦比的病例对照研究,涉及120例NNM病例和120例对照。NNM是根据Pileggi-Castro的实用主义和管理标准确定的。数据收集自住院记录和产后母亲访谈。对暴露变量进行多重logistic回归,以95%可信区间(CI)计算校正优势比(AOR)。结果:产妇年龄≥30岁(AOR, 5.32;95% CI, 1.12 ~ 9.29;P=0.041),产前护理不足(ANC) (AOR, 8.35;95% CI, 1.98 ~ 51.12;P=0.032),妊娠期超声扫描<3次(AOR, 12.5;95% CI, 1.60 ~ 97.27;P=0.016),产妇贫血(AOR, 18.96;95% CI, 3.10 ~ 116.02;P=0.001),以及任何一种产科并发症(妊娠期高血压疾病、妊娠期糖尿病、早产、胎膜早破、产程延长、难产、分娩不良)(AOR, 4.34;95% CI, 1.26 ~ 14.95;P = 0.02)。结论:确定的NNM预测因子对公共卫生政策和实践具有重要意义,对其进行修改可以改善NNM。这些措施包括扩大基本的产前检查一揽子计划,包括超声波扫描,确保世界卫生组织建议的八次产前检查,在各级保健部门进行能力建设,以加强常规的产前检查和产科护理,以有效筛查、转诊和管理产科并发症。
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Neonatal Medicine
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