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Full-Term Baby with Cerebellar Hemorrhage Referred for Severe Jaundice Occurring within the First 3 Days of Life 因出生后 3 天内出现严重黄疸而转诊的小脑出血足月婴儿
Pub Date : 2024-02-29 DOI: 10.5385/nm.2024.31.1.9
Inwook Lee, Jae-Kyoon Hwang, Ja-Hye Ahn, Hyun Ju Lee, Chang-Ryul Kim
Cerebellar hemorrhage in full-term infants is a rare condition recently recognized in high-risk newborns requiring intensive care with the availability of advanced neuroimaging techniques. Several aspects such as the incidence, pathophysiology, clinical features, and prognosis of cerebellar hemorrhage in full-term infants remain unknown. We present a case of cerebellar hemorrhage with subdural hemorrhage in a patient hospitalized for jaundice after birth without a history of traumatic delivery, such as breech presentation, prolonged labor or forceps delivery. A full-term female infant weighing 3,100 g at birth, with no complications during delivery, developed jaundice within 48 hours of birth and was admitted for intensive phototherapy in the first 3 days of life with a transcutaneous total bilirubin level of 18.1 mg/dL. Magnetic resonance imaging revealed cerebellar brain lesions with a subdural hemorrhage. At the age of 3 months, the infant exhibited leg rigidity and was referred for rehabilitation. The patient showed signs of improvement during treatment and was generally catching up well with her peers at the age of 9 months. Long-term follow-ups are required to evaluate the consequences on cognitive development, behavior, and motor performance subsequently in life.
足月婴儿小脑出血是一种罕见病,最近随着先进的神经影像学技术的普及,在需要重症监护的高危新生儿中得到了认可。足月儿小脑出血的发病率、病理生理学、临床特征和预后等几个方面仍然未知。我们报告了一例小脑出血合并硬膜下出血的病例,患者出生后因黄疸住院,无臀先露、产程过长或产钳分娩等外伤史。一名足月女婴出生时体重 3100 克,分娩时无并发症,出生后 48 小时内出现黄疸,出生后 3 天内入院接受强化光疗,经皮总胆红素水平为 18.1 毫克/分升。磁共振成像显示小脑脑部病变,硬膜下出血。3 个月大时,婴儿出现腿部僵硬,被转诊接受康复治疗。在治疗过程中,患者出现了好转的迹象,9 个月大时基本能赶上同龄人。需要进行长期随访,以评估对认知发展、行为和运动能力的影响。
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引用次数: 0
Should We Consider UGT1A1 Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants? 在评估新生儿黄疸持续时间时是否应考虑 UGT1A1 基因突变分析?
Pub Date : 2024-02-29 DOI: 10.5385/nm.2024.31.1.1
Young Don Kim
Purpose: Uridine diphosphate glucuronosyltransferase 1A isoform 1 (UGT1A1) is a crucial enzyme in bilirubin metabolism. Mutations in this gene cause prolonged unconjugated hyperbilirubinemia in infants. This study aimed to investigate the prevalence of UGT1A1 mutations and their association with prolonged, unexplained, and unconjugated hyperbilirubinemia in infants.Methods: From July 2019 to March 2023, 74 infants with prolonged jaundice lasting >21 days were enrolled in this study. Diagnostic evaluations, including UGT1A1 mutation analysis, were performed to identify the underlying causes of hyperbilirubinemia. This retrospective review evaluated the incidence and types of mutations in UGT1A1. The clinical and laboratory findings were compared based on the specific mutations detected.Results: Thirty-three infants agreed to UGT1A1 mutation analysis, and 30 (90.9%) were positive for UGT1A1 mutations. Single-nucleotide variants were detected in 20 (66. %) infants. The remaining 10 (33.3%) infants had multiple variants. No significant demographic differences were observed between the group that underwent UGT1A1 mutation analysis and the group that did not. Among the identified genetic variants, c.211G>A (46.5%) and c.-3275T>G (30.2%) were the two most common variants. The other variants had the following percentages: c.1456T>G, c.-64G>C, and c.1091C>T (4.7% each); and c.-3152G>A, c.189C>T, and c.-41.-40 dup (2.3% each). Among the 20 infants with the c.211G>A variant, eight (40.0%) had a homozygous genotype and 12 (60.0%) had a heterozygous genotype. Infants harboring other variants exhibited heterozygous genotypes. When comparing the group with confirmed UGT1A1 mutations to the group without detected mutations, breastfeeding was the only significant factor (p=0.027). No significant differences were found between the group with singlenucleotide variants and the group with multiple genetic variants or between the homozygous genotype group with c.211G>A and the heterozygous genotype group.Conclusion: Neonates with prolonged unconjugated hyperbilirubinemia may have a higher chance of UGT1A1 mutation than expected. Analysis of UGT1A1 mutations may be beneficial in infants with prolonged unexplained jaundice.
目的:二磷酸尿苷葡萄糖醛酸基转移酶 1A 异构体 1(UGT1A1)是胆红素代谢过程中的一种重要酶。该基因突变会导致婴儿长期未结合高胆红素血症。本研究旨在调查 UGT1A1 基因突变的发生率及其与婴儿长期、不明原因和非结合性高胆红素血症的关联:从 2019 年 7 月至 2023 年 3 月,74 名黄疸持续时间超过 21 天的婴儿被纳入本研究。进行了诊断评估,包括 UGT1A1 突变分析,以确定高胆红素血症的根本原因。这项回顾性研究评估了 UGT1A1 基因突变的发生率和类型。根据检测到的特定突变对临床和实验室结果进行了比较:33名婴儿同意进行UGT1A1突变分析,其中30名(90.9%)婴儿的UGT1A1突变呈阳性。20名婴儿(66.0%)检测到单核苷酸变异。其余 10 名婴儿(33.3%)存在多种变异。接受 UGT1A1 基因突变分析的婴儿与未接受分析的婴儿在人口统计学上无明显差异。在已确定的基因变异中,c.211G>A(46.5%)和c.-3275T>G(30.2%)是最常见的两种变异。其他变异的百分比如下:c.1456T>G、c.-64G>C 和 c.1091C>T(各占 4.7%);c.-3152G>A、c.189C>T 和 c.-41.-40 dup(各占 2.3%)。在 20 个携带 c.211G>A 变异的婴儿中,8 个(40.0%)为同基因型,12 个(60.0%)为杂合子基因型。携带其他变异体的婴儿则表现为杂合基因型。将已确认 UGT1A1 基因突变的婴儿组与未检测到基因突变的婴儿组进行比较,母乳喂养是唯一显著的因素(p=0.027)。单核苷酸变异组与多基因变异组之间、c.211G>A的同基因型组与杂基因型组之间均无明显差异:结论:长期未结合高胆红素血症新生儿发生 UGT1A1 基因突变的几率可能高于预期。对长期不明原因黄疸的婴儿进行 UGT1A1 基因突变分析可能是有益的。
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引用次数: 0
Does Neonatal Microbiome Research Encompass the Placental Transfer Pathway? 新生儿微生物组研究是否包括胎盘转移途径?
Pub Date : 2023-11-30 DOI: 10.5385/nm.2023.30.4.96
Yong-Sung Choi
The word “microbiome” is a combination of “microbiota” and “genome,” which represents the genomic concept of microbiota. The bacterial culture method is the mainstay of identifying microbes, while polymerase chain reaction adds diagnostic value. However, in the era of next-generation sequencing, achieving high-throughput microbiota footprints is extremely sensitive. This sensitivity often leads to confusion, as it can detect specific microbes genomes, even in sterile samples, such as blood, placenta, breast milk, skin, vagina, and stool. The neonatal microbiome remarkably influences both fetal and neonatal life related to health status and disease outcome. However, its origins pose a question: does it stem from a direct gateway or through a breakdown of barriers? This review provides a brief overview of evidence and speculative insights.
微生物组 "一词由 "微生物群 "和 "基因组 "组合而成,代表了微生物群的基因组概念。细菌培养法是鉴定微生物的主要方法,而聚合酶链反应则增加了诊断价值。然而,在下一代测序时代,实现高通量微生物群足迹极为敏感。这种灵敏度往往会导致混淆,因为即使在血液、胎盘、母乳、皮肤、阴道和粪便等无菌样本中,它也能检测到特定的微生物基因组。新生儿微生物组对胎儿和新生儿的健康状况和疾病预后都有显著影响。然而,它的起源提出了一个问题:它是来自直接途径还是通过屏障的破坏?本综述简要概述了相关证据和推测。
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引用次数: 0
Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report 伴有新生儿胆汁淤积症和广泛血色素沉着症的β地中海贫血:病例报告
Pub Date : 2023-11-30 DOI: 10.5385/nm.2023.30.4.102
Chung Gang Jung, Jang Hoon Lee, Y. Kim
Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for >4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.
新生儿胆汁淤积症由各种形式的肝损伤引起,病因复杂。其中,原发性溶血病导致的重症胆汁淤积症病例十分罕见。在此,我们报告了一例地中海贫血引起的严重溶血导致胆管损伤的病例,患者出生后不久即出现胆汁淤积,并持续了4个月以上。此外,从生化和组织学角度观察到肝脏病理完全恢复。因此,临床医生在新生儿胆汁淤积症的鉴别诊断中,应将溶血病作为一种罕见病因,并根据病例进展情况考虑保守治疗的可取性。
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引用次数: 0
A Case of Oropharyngeal Teratoma Associated with Subluxation of Temporomandibular Joint: A Case Report 口咽畸胎瘤伴颞下颌关节半脱位一例:病例报告
Pub Date : 2023-11-30 DOI: 10.5385/nm.2023.30.4.108
Ji Won Moon, Moon Sung Park
Teratomas are the most common congenital tumors and contain cells from the ectoderm, mesoderm, and endoderm. They are mainly located in the central axis of the body. The tumors are most commonly found in the sacrococcygeal region, followed by the gonadal site and mediastinum, and rarely in the head and neck. Teratomas can cause various clinical symptoms depending on the location of the mass and may result in feeding difficulties or respiratory distress. We present a case of oropharyngeal teratoma accompanied by respiratory distress and persistent feeding difficulties, leading to compression of the temporomandibular joint, which in turn caused subluxation.
畸胎瘤是最常见的先天性肿瘤,含有来自外胚层、中胚层和内胚层的细胞。它们主要位于身体的中轴线上。这种肿瘤最常见于骶尾部,其次是性腺部位和纵隔,头颈部很少见。畸胎瘤可根据肿块的位置引起各种临床症状,并可能导致喂养困难或呼吸困难。我们介绍了一例口咽畸胎瘤病例,该病伴有呼吸困难和持续喂养困难,导致颞下颌关节受压,进而引起脱位。
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引用次数: 0
Novel Mutation of SLC26A3 Gene Observed in Congenital Chloride Diarrhea 先天性氯化物腹泻中SLC26A3基因的新突变
Pub Date : 2023-08-31 DOI: 10.5385/nm.2023.30.3.75
Ji Hye Cheon, Nali Yu, Na Mi Lee
Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to thrive, or even death if left untreated. Genetic testing for mutations should be considered if the clinical diagnosis remains uncertain because early diagnosis and appropriate management are critical to the disease course in CLD. Several mutations have been reported in Korean patients with CLD, with the most common being the c.2063-1G>T mutation. Here, we report the case of a neonate with prenatally suspected CLD with confirmed novel mutations in the SLC26A3 gene (c.2147C>G; p.Ala716Gly).
先天性氯化物腹泻(CLD)是一种罕见的常染色体隐性遗传病,由7q31染色体上溶质载体家族26成员3 (SLC26A3)基因突变引起。受影响的新生儿容易脱水、低钠血症形式的电解质失衡、代谢性碱中毒、无法茁壮成长,如果不及时治疗甚至死亡。如果临床诊断仍不确定,应考虑进行基因突变检测,因为早期诊断和适当管理对CLD的病程至关重要。据报道,在韩国的CLD患者中有几种突变,最常见的是c.2063-1G >t突变。在这里,我们报告了一例产前疑似CLD的新生儿,其SLC26A3基因(c.2147C>G;p.Ala716Gly)。
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引用次数: 0
Neonatal Hemolytic Disease Caused by Anti-e and Anti-C Antibodies Treated with Intensive Phototherapy: A Case Report 强化光疗治疗抗e、抗c抗体所致新生儿溶血病1例
Pub Date : 2023-08-31 DOI: 10.5385/nm.2023.30.3.79
Gihoon Jung, Jin Kyu Kim, Sun Jun Kim, Hyun Ho Kim
ABO and Rh incompatibility are the leading causes of hemolytic disease of the fetus and newborn (HFDN). Due to the high antigenicity of the D antigen, hemolysis and symptoms progress rapidly. However, minor blood group incompatibility manifests varying clinical symptoms, from asymptomatic cases to neonatal jaundice and fetal hydrops. This study presents a case of HFDN in which anti-C and anti-e antibodies were identified and treated with intensive phototherapy. A full-term infant weighing 3,100 g at birth, with no complications during delivery, presented with jaundice and was admitted for intensive phototherapy. Antibody testing detected anti-C and anti-e antibodies in the neonate and the mother. The patient responded well to phototherapy, and intravenous immunoglobulin was administered. The total bilirubin levels decreased, and the infant was discharged after 5 days. At the age of 12 months, the infant exhibited normal neurodevelopment. In conclusion, neonates with HFDN, due to rare minor blood incompatibility, specifically anti-C and anti-e antibodies, can mitigate hyperbilirubinemia using phototherapy. Future research should also consider the severity of the minor blood group incompatibility.
ABO和Rh不相容是导致胎儿和新生儿溶血病(HFDN)的主要原因。由于D抗原的高抗原性,溶血和症状进展迅速。然而,轻微血型不合表现出不同的临床症状,从无症状的病例到新生儿黄疸和胎儿水肿。本研究报告了一例HFDN,其中发现了抗c和抗e抗体,并采用强化光疗治疗。出生时体重3100克的足月婴儿,分娩期间无并发症,表现为黄疸,入院接受强化光疗。抗体检测在新生儿和母亲体内检测到抗c和抗e抗体。患者对光疗反应良好,并静脉注射免疫球蛋白。总胆红素水平下降,5天后出院。在12个月大时,婴儿表现出正常的神经发育。总之,HFDN新生儿由于罕见的轻微血液不相容,特别是抗c和抗e抗体,可以通过光疗缓解高胆红素血症。今后的研究还应考虑小血型不相容的严重程度。
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引用次数: 0
Erratum: The Impact of Slow Infusion Intermittent Feeding on Gavage Feeding-Associated Cardiorespiratory Deterioration in Neonatal Intensive Care Unit Infants 慢速输注间歇喂养对新生儿重症监护病房婴儿灌胃喂养相关心肺功能恶化的影响
Pub Date : 2023-08-31 DOI: 10.5385/nm.2023.30.3.88
Mi Jin Kim, Hyun Su Kim, Young Hwa ung, Chang Won Choi
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引用次数: 0
Associations between Maternal sFlt-1/PlGF Ratio and Perinatal and Neonatal Outcomes in Newborns Born to Mothers with Preeclampsia 子痫前期母亲所生新生儿的sFlt-1/PlGF比值与围产期和新生儿结局的关系
Pub Date : 2023-08-31 DOI: 10.5385/nm.2023.30.3.61
Hyojun Yang, Soo Yeon Lim, Hyun Soo Kim, Changwon Choi, Y. Jung
Purpose: The ratio of soluble fms-like tyrosine kinase 1 (sFlt-1) to placental growth factor (PlGF) is considered a predictive marker of preeclampsia. However, the relationship between the sFlt-1/PlGF ratio and perinatal and neonatal outcomes remains unknown. This study aimed to determine the associations of the sFlt-1/PlGF ratio with perinatal and neonatal outcomes in newborns born to mothers with preeclampsia.Methods: This retrospective cohort study reviewed singleton neonates born to mothers with preeclampsia who underwent testing for the sFlt-1/PlGF ratio. We investigated the relationship between maternal sFlt-1/PlGF ratios and gestational age (GA), birth weight (Bwt), Bwt z-score, morbidities, and mortality of neonates born to mothers tested for the sFlt-1/PlGF ratio. Maternal sFlt-1/PlGF ratios examined within 30 days before delivery were used for analysis. Neonatal morbidities and mortality were investigated only in preterm infants born earlier than 32 weeks GA.Results: A total of 225 neonates were included, of which 163 (72.4%) were preterm infants. GA (R=– 0.577, p<0.001), Bwt (R=–0.713, p<0.001), and Bwt z-score (R=–0.608, p<0.001) exhibited significant negative correlations with the sFlt-1/PlGF ratios. Among the 50 preterm infants born earlier than 32 weeks GA, neonatal morbidities were not significantly associated with the sFlt-1/PlGF ratio after adjusting for GA and Bwt.Conclusion: In mothers with preeclampsia, a higher sFlt-1/PlGF ratio was associated with the delivery of newborns with lower GA and lower Bwt. However, this ratio was not associated with increased morbidity or mortality in premature infants born earlier than 32 weeks GA.
目的:可溶性纤维样酪氨酸激酶1 (sFlt-1)与胎盘生长因子(PlGF)的比值被认为是子痫前期的预测指标。然而,sFlt-1/PlGF比值与围产期和新生儿结局之间的关系尚不清楚。本研究旨在确定sFlt-1/PlGF比值与子痫前期母亲所生新生儿围产期和新生儿结局的关系。方法:本回顾性队列研究回顾了患有先兆子痫的母亲所生的单胎新生儿,这些新生儿接受了sFlt-1/PlGF比值的检测。我们研究了母亲sFlt-1/PlGF比值与胎龄(GA)、出生体重(Bwt)、Bwt z-score、sFlt-1/PlGF比值检测的母亲所生新生儿发病率和死亡率之间的关系。使用分娩前30天内检测的产妇sFlt-1/PlGF比率进行分析。新生儿发病率和死亡率仅在出生年龄早于32周的早产儿中进行调查。结果:共纳入新生儿225例,其中早产儿163例,占72.4%。GA (R= - 0.577, p<0.001)、Bwt (R= - 0.713, p<0.001)和Bwt z-score (R= - 0.608, p<0.001)与sFlt-1/PlGF比值呈显著负相关。在出生年龄小于32周的50例早产儿中,调整出生年龄和体重后,新生儿发病率与sFlt-1/PlGF比值无显著相关性。结论:在先兆子痫母亲中,较高的sFlt-1/PlGF比值与新生儿低GA和低Bwt相关。然而,这一比例与早于32周出生的早产儿发病率或死亡率增加无关。
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引用次数: 0
Entero-colonic Fistula Secondary to Necrotizing Enterocolitis in Premature Infant: A Case Report 早产儿坏死性小肠结肠炎继发肠结肠瘘1例
Pub Date : 2023-08-31 DOI: 10.5385/nm.2023.30.3.83
Soung Hee Kim
Necrotizing enterocolitis is a severe inflammatory disease of the intestine and is the main cause of death in infants, mostly occurring in premature infants. Intestinal obstruction may occur during the medical treatment of necrotizing enterocolitis. A common cause of intestinal obstruction is intestinal stricture, and entero-enteric fistulas may form in the proximal portion of the intestinal stricture. Several mechanisms may be suggested for the development of entero-enteric fistula. Intestinal ischemia and subsequent necrosis do not become intestinal perforation over time, causing an inflammatory reaction, and are attached to the adjacent intestine, forming a fistula. Alternatively, a subacute perforation may be sealed off by the adjacent intestine, resulting in fistula formation. Entero-enteric fistulas are closely related to distal stricture and occurs when there is a localized perforation rather than a generalized perforation. Fistulas can be diagnosed via contrast enema examination or distal loopogram, and surgical resection is required. Here, I report a case of a preterm infant with an entero-colonic fistula secondary to necrotizing enterocolitis. The patient had abdominal distention and bloody stool and was confirmed to have rotavius enteritis. Plain abdominal radiographs showed pneumatosis intestinalis. The patient received medical treatment for necrotizing enterocolitis. While the symptoms were improving, he vomited again, and intestinal obstruction was suspected. Gastrografin enema was performed due to intestinal obstruction, and an enterocolonic fistula was found.
坏死性小肠结肠炎是一种严重的肠道炎症性疾病,是婴儿死亡的主要原因,主要发生在早产儿身上。坏死性小肠结肠炎的治疗过程中可能会出现肠梗阻。肠梗阻的常见原因是肠狭窄,肠瘘可能在肠狭窄的近端形成。肠肠瘘的发展可能有几种机制。随着时间的推移,肠道缺血和随后的坏死不会变成肠穿孔,引起炎症反应,并附着在邻近的肠道上,形成瘘管。或者,亚急性穿孔可以被邻近的肠道封闭,从而形成瘘管。肠瘘与远端狭窄密切相关,发生在局部穿孔而非全身穿孔时。瘘管可以通过对比灌肠检查或远端环形图进行诊断,需要手术切除。在此,我报告了一例早产儿坏死性小肠结肠炎并发肠结肠瘘的病例。病人有腹胀和便血,并被证实为轮状病毒肠炎。腹部平片显示肠积气。病人因坏死性小肠结肠炎接受了治疗。当症状好转时,他再次呕吐,并怀疑有肠梗阻。由于肠梗阻,进行了胃格拉芬灌肠,发现了一个肠结肠瘘。
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引用次数: 0
期刊
Neonatal Medicine
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