Neonatal Medicine最新文献

{"title":"Full-Term Baby with Cerebellar Hemorrhage Referred for Severe Jaundice Occurring within the First 3 Days of Life","authors":"Inwook Lee, Jae-Kyoon Hwang, Ja-Hye Ahn, Hyun Ju Lee, Chang-Ryul Kim","doi":"10.5385/nm.2024.31.1.9","DOIUrl":"https://doi.org/10.5385/nm.2024.31.1.9","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"80 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140411140","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}

{"title":"Should We Consider UGT1A1 Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants?","authors":"Young Don Kim","doi":"10.5385/nm.2024.31.1.1","DOIUrl":"https://doi.org/10.5385/nm.2024.31.1.1","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"16 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140411844","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}

{"title":"Does Neonatal Microbiome Research Encompass the Placental Transfer Pathway?","authors":"Yong-Sung Choi","doi":"10.5385/nm.2023.30.4.96","DOIUrl":"https://doi.org/10.5385/nm.2023.30.4.96","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"925 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139204409","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}

{"title":"Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report","authors":"Chung Gang Jung, Jang Hoon Lee, Y. Kim","doi":"10.5385/nm.2023.30.4.102","DOIUrl":"https://doi.org/10.5385/nm.2023.30.4.102","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"56 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139206832","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}

{"title":"A Case of Oropharyngeal Teratoma Associated with Subluxation of Temporomandibular Joint: A Case Report","authors":"Ji Won Moon, Moon Sung Park","doi":"10.5385/nm.2023.30.4.108","DOIUrl":"https://doi.org/10.5385/nm.2023.30.4.108","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139200714","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}

{"title":"Novel Mutation of SLC26A3 Gene Observed in Congenital Chloride Diarrhea","authors":"Ji Hye Cheon, Nali Yu, Na Mi Lee","doi":"10.5385/nm.2023.30.3.75","DOIUrl":"https://doi.org/10.5385/nm.2023.30.3.75","url":null,"abstract":"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).","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46972038","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}

{"title":"Neonatal Hemolytic Disease Caused by Anti-e and Anti-C Antibodies Treated with Intensive Phototherapy: A Case Report","authors":"Gihoon Jung, Jin Kyu Kim, Sun Jun Kim, Hyun Ho Kim","doi":"10.5385/nm.2023.30.3.79","DOIUrl":"https://doi.org/10.5385/nm.2023.30.3.79","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47522931","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}

{"title":"Erratum: The Impact of Slow Infusion Intermittent Feeding on Gavage Feeding-Associated Cardiorespiratory Deterioration in Neonatal Intensive Care Unit Infants","authors":"Mi Jin Kim, Hyun Su Kim, Young Hwa ung, Chang Won Choi","doi":"10.5385/nm.2023.30.3.88","DOIUrl":"https://doi.org/10.5385/nm.2023.30.3.88","url":null,"abstract":"","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43618436","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}

{"title":"Associations between Maternal sFlt-1/PlGF Ratio and Perinatal and Neonatal Outcomes in Newborns Born to Mothers with Preeclampsia","authors":"Hyojun Yang, Soo Yeon Lim, Hyun Soo Kim, Changwon Choi, Y. Jung","doi":"10.5385/nm.2023.30.3.61","DOIUrl":"https://doi.org/10.5385/nm.2023.30.3.61","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46191032","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}

{"title":"Entero-colonic Fistula Secondary to Necrotizing Enterocolitis in Premature Infant: A Case Report","authors":"Soung Hee Kim","doi":"10.5385/nm.2023.30.3.83","DOIUrl":"https://doi.org/10.5385/nm.2023.30.3.83","url":null,"abstract":"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.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45852769","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}