Neonatal Medicine最新文献_第8页

Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study 新生儿散发性锁骨颅内发育不良:一项4年随访研究

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.192

Jin-ho Kim, Sun Jun Kim, Hyun Ho Kim, Jin Kyu Kim

引用次数: 1

14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay 14q12q13.3缺失在显示癫痫发作、胼胝体发育不良和发育迟缓的婴儿中的染色体微阵列分析诊断

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.207

Jae Hyuk Kwon, Young Hwa Song, J. Yoon, E. Cheon, Kyung Ok Ko, J. Lim, Hyon Ju Kim

{"title":"14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay","authors":"Jae Hyuk Kwon, Young Hwa Song, J. Yoon, E. Cheon, Kyung Ok Ko, J. Lim, Hyon Ju Kim","doi":"10.5385/nm.2020.27.4.207","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.207","url":null,"abstract":"14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelop mental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected with routine chromosome analysis. In this report, we present a patient with intrauterine growth retardation, microcephaly, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent diagnostic tests, including karyotyping in the neonatal period without leading to a specific diagnosis. The patient was confirmed with a serious developmental disorder, and a chromosomal microarray analysis was performed at 8 months of age, revealing a 14q12q13.3 deletion. In this case, the condition was diagnosed in early infancy, in contrast to previously reported cases, and the patient had diverse and severe symptoms. Establishing the diagnosis of 14q12q13.3 deletion syndrome allows better management of patient care and genetic counseling for the parents.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"27 1","pages":"207-213"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43709217","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: 0

Neurodevelopmental Correlations between the Korean Developmental Screening Test and Bayley Scale III in Very-Low-Birth-Weight Infants 极低出生体重儿韩国发育筛选试验与贝利量表III的神经发育相关性

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.167

Sol Han, Oghyang Kim, Chaeri Yoo, J. Heo, H. Lee, J. Jeon

{"title":"Neurodevelopmental Correlations between the Korean Developmental Screening Test and Bayley Scale III in Very-Low-Birth-Weight Infants","authors":"Sol Han, Oghyang Kim, Chaeri Yoo, J. Heo, H. Lee, J. Jeon","doi":"10.5385/nm.2020.27.4.167","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.167","url":null,"abstract":"Purpose: We aimed to analyze the correlations between the Bayley Scales of Infant Development (BSID)-III and Korean Developmental Screening Test (K-DST) in very-low-birth-weight (VLBW; birth weight <1,500 g) preterm infants. Methods: We enrolled 53 VLBW infants (mean gestational age, 28.9±2.11 weeks; mean birth weight, 1,158.5±241.1 g) and assessed them using the BSID-III and K-DST at a corrected age of 18 to 24 months. We analyzed the correlations between the BSID-III and K-DST subdomains and evaluated whether the estimated developmental levels were consistent with the corrected ages. Results: In the BSID-III, the composite scores for cognition, motor, and language were 105.9±13.1 (median, 105; 66th percentile; 95% confidence interval [CI], 98 to 113), 100.9±12.4 (100; 50th percentile; 95% CI, 92 to 108), and 94.9±16.8 (97.5; 34th percentile; 95% CI, 87 to 102), respectively. The scaled scores for receptive/expressive language and gross/fine motor were 9.9±2.9 (10.5)/8.2±2.7 (8) and 9.6±2.4 (9)/10.6 ±2.3 (10), respectively. In the K-DST, the mean scores of cognition (17.8±4.7 [18.5]), language (16.6±7.2 [20]), fine motor (19.4±3.4 [20]), gross motor (19.9±3.8 [21]), sociality (18.6±4.7 [20]), and self-control (17.3±5.1 [18]) were within the range of normal developmental status. Among the overlapping subdomains, cognition (r=0.58, P= 0.003) and language (r=0.86, P<0.001), but not fine and gross motor status (r=0.05, P= 0.79; r=0.16, P=0.44, respectively), showed significant correlation between the BSIDIII and K-DST. Conclusion: The language and cognition domains of the K-DST were significantly correlated with the BSID-III in preterm VLBW infants. Clinicians should consider these discrepancies and correlations when evaluating the developmental status of preterm VLBW infants.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"27 1","pages":"167-173"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45116014","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: 3

Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation 伴性别逆转的同源性发育不良携带一种新的移码突变

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.197

Ha Na Lee, C. Kim, Euiseok Jung, B. Lee, B. Lee, E. Kim, Ki-Soo Kim

引用次数: 0

Developmental Outcome of Very-Low-Birth-Weight Infants without Major Brain Injuries Based on Data from the Korean Neonatal Network: A Nationwide Cohort Study 基于韩国新生儿网络数据的极低出生体重婴儿无严重脑损伤的发育结果：一项全国性队列研究

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.151

J. Cha, Naye Choi, Y. Kim, Hyunju Lee, Chang-Ryul Kim, Hyun-Kyung Park

{"title":"Developmental Outcome of Very-Low-Birth-Weight Infants without Major Brain Injuries Based on Data from the Korean Neonatal Network: A Nationwide Cohort Study","authors":"J. Cha, Naye Choi, Y. Kim, Hyunju Lee, Chang-Ryul Kim, Hyun-Kyung Park","doi":"10.5385/nm.2020.27.4.151","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.151","url":null,"abstract":"Purpose: As preterm infants have shown advances in survival rate, many very-lowbirth-weight (VLBW) infants have shown developmental delay even without a major brain injury. Thus, the incidence of and risk factors associated with poor neurodevelopmental outcome should be evaluated. Methods: A multicenter nationwide prospective longitudinal cohort study of VLBW infants born in South Korea between 2013 and 2015 was conducted. Poor neurodevelopmental outcome was diagnosed if the Bayley Scales of Infant and Toddler Development (BSID)-III composite score was ≤85 (cognition, language, motor). We analyzed the associations of baseline neonatal characteristics, environmental characteristics and neonatal morbidities with poor neurodevelopmental outcome. Results: The study included 285 infants, of whom 34 (11.9%) exhibited cognition delay; 59 (20.7%), showed language delay and 32 (11.2%) showed motor delay. The mean gestational age and birth weight were 29 weeks and 1,130 g, respectively. Mode rate and severe bronchopulmonary dysplasia (P=0.056) and intraventricular hemorrh age grade I (P=0.079) were marginally associated with cognition delay. Higher paternal educational level (P<0.05) was significantly associated with the language outcome. Birth weight (P<0.05) and head circumference at discharge (P<0.05) were the major predictors of motor delay. Conclusion: The population-based nationwide cohort study shows that approximately 20% of VLBW infants without major brain injury have developmental delay. Several factors that are not directly associated with major brain injury were significantly associated with poor neurodevelopmental outcome.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"27 1","pages":"151-158"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44599285","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

Early Onset Type 2 Diabetes Mellitus in Non-Obese Adolescents Born Small for Gestational Age 非肥胖青少年早期发病的2型糖尿病

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.181

Hye Yeon Choi, Juyoung Lee, D. Kim, J. Suh, J. Bin, S. Lee, K. Cho

引用次数: 0

KCNQ2 Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern KCNQ2脑病表现出独特的峰幅综合脑电图模式

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.202

Naeun Kwak, Y. Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, E. Lee

{"title":"KCNQ2 Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern","authors":"Naeun Kwak, Y. Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, E. Lee","doi":"10.5385/nm.2020.27.4.202","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.202","url":null,"abstract":"KCNQ2 mutations induce a neonatal-onset epileptic encephalopathy of widely varying severity, ranging from benign familial neonatal epilepsy to severe refractory epileptic encephalopathy. Refractory seizures with KCNQ2 mutations have a positive response to sodium-channel blockers. Recently, a distinctive ictal pattern has been reported during amplitude-integrated electroencephalographic (aEEG) monitoring in infants with KCNQ2 encephalopathy. Herein, we describe a case of KCNQ2 encephalopathy with this distinctive ictal aEEG pattern, which was confirmed using conventional electroencephalography (EEG). A 3-day-old female infant presented with neonatal seizures accompanied by cyanosis and desaturation. Her seizure semiology was tonic and focal clonic. Her ictal aEEG demonstrated a sudden rise in amplitude followed by a suppressed background pattern. This pattern was also confirmed on conventional EEG. Her seizures were refractory despite the administration of multiple conventional antiepileptic drugs. Finally, c.794C>T; p. (Ala265Val) mutation was observed in the KCNQ2 gene on genetic testing, and she was diagnosed with KCNQ2 encephalopathy. Identifying this distinctive ictal pattern on aEEG monitoring facilitates the early detection of KCNQ2 encephalopathy and timely targeted treatment in patients with refractory seizures.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"27 1","pages":"202-206"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42852565","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

Acute Fetomaternal Hemorrhage Confirmed by Maternal Alfa-Fetoprotein in Monochorionic Diamniotic Neonates under 1,500 g 1500 g以下单绒毛膜双羊膜新生儿急性胎母出血经母体甲胎蛋白证实

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.187

Chaeri Yoo, Sol Han, H. Jeong, J. Heo, Hyun-Seung Lee, J. Jeon

{"title":"Acute Fetomaternal Hemorrhage Confirmed by Maternal Alfa-Fetoprotein in Monochorionic Diamniotic Neonates under 1,500 g","authors":"Chaeri Yoo, Sol Han, H. Jeong, J. Heo, Hyun-Seung Lee, J. Jeon","doi":"10.5385/nm.2020.27.4.187","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.187","url":null,"abstract":"Fetomaternal hemorrhage (FMH) is due to the entry of fetal blood into the maternal circulation. Although very rare, FMH complicates pregnancies, presents with severe symptoms, and leads to fetal death. Majority of FMH cases are idiopathic and difficult to diagnose. The known used diagnostic tests are Kleihauer-Betke Test (KBT) and flow cytometry, which can detect fetal hemoglobin in the maternal blood. However, such methods have limited use because of low sensitivity, labor-intensive and errorsusceptible procedures, poor reproducibility, and tendency to overestimate the FMH volume. Other tests include high performance liquid chromatography (HPLC) and alpha-fetoprotein (AFP) tests, which can be as favorable to confirm FMH as KBT. However, in case of acute FMH, the diagnostic results of KBT, flow cytometry, and HPLC may be false negative. AFP test is a noninvasive, fast, easily assessable, adjuvant, and confirmatory diagnostic test. Published Korean articles show confirmed FMH by KBT or HPLC in singleton late-preterm and term neonates. Herein, we report a case of monochorionic diamniotic twin neonates (birth weight <1,500 g) who presented borderline fetal hemoglobin level because of acute FMH and were diagnosed with FMH by maternal AFP. Our experience of diagnosing FMH rapidly by AFP test will be very helpful to clinicians for the prevention and treatment of FMH during pregnancy.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"27 1","pages":"187-191"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44700602","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: 0

Neurodevelopmental Outcomes of Moderate-to-Late Preterm Infants 中晚期早产儿的神经发育结果

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.159

Yun Sung Nam, J. Heo, J. Byeon, Eun Hee Lee

{"title":"Neurodevelopmental Outcomes of Moderate-to-Late Preterm Infants","authors":"Yun Sung Nam, J. Heo, J. Byeon, Eun Hee Lee","doi":"10.5385/nm.2020.27.4.159","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.159","url":null,"abstract":"Purpose: Preterm infants are known to be at a risk of neurodevelopmental delay; however, limited data are available on the outcomes of moderate-to-late preterm (MLPT) infants (born at 32 to 36 weeks’ gestation). The Korean Developmental Screen ing Test (K-DST) for infants and children is a recently designed screening test for Korean infants and children. The current study aimed to evaluate the neurodevelopmental outcomes of MLPT infants and investigate the risk factors associated with neurodevelopmental delay. Methods: A total of 119 MLPT infants admitted to a neonatal intensive care unit (NICU) of a tertiary hospital in Korea were enrolled. The infants were assessed during two follow-up periods (first: 16 to 24 months of corrected age; second: 24 to 41 months of corrected age). The perinatal factors in the NICU that were associated with delayed development were analyzed. Results: In all sections of the K-DST, the proportion of infants with developmental delay was higher in the second period (5.6% to 9.3%) than in the first period (0.9% to 5.4%). A total of 10% to 17% of the infants presented with persistent delay throughout the two periods based on five sections of the K-DST. Male sex, oxygen therapy duration, and younger maternal age were the risk factors affecting at least one section during the second period. Conclusion: MLPT infants showed greater developmental delay than the general infant population. Considering that early intervention is important for good longterm outcomes, close observation of male MLPT infants and MLPT infants who received oxygen therapy is warranted.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43892620","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

Effects of Music Intervention Techniques on Very-Low-Birth-Weight Infants in Neonatal Intensive Care Unit: A Preliminary Study 音乐干预技术对新生儿重症监护室极低出生体重儿影响的初步研究

Neonatal Medicine Pub Date : 2020-11-30 DOI: 10.5385/nm.2020.27.4.174

Ji Yun Yun, Ji Sun Kim, So-Yeon Shim, S. Cho, E. Park, H. Chong

{"title":"Effects of Music Intervention Techniques on Very-Low-Birth-Weight Infants in Neonatal Intensive Care Unit: A Preliminary Study","authors":"Ji Yun Yun, Ji Sun Kim, So-Yeon Shim, S. Cho, E. Park, H. Chong","doi":"10.5385/nm.2020.27.4.174","DOIUrl":"https://doi.org/10.5385/nm.2020.27.4.174","url":null,"abstract":"Purpose: The aim of this study was to evaluate the physiological and behavioral effects of auditory stimulation with their own parent’s voice on heart rate and sleep states of very-low-birth-weight infants (VLBWIs) in neonatal intensive care unit. Methods: The data of 28 VLBWIs at the Ewha Womans University Mokdong Hospital between October 2016 and May 2017 was analyzed. They were exposed to sounds similar to those of mothers’ heartbeat they had heard in the uterus and their own parent’s voice. Heart rate was assessed as the physiological responses and sleep state of infants as behavioral response. The sleep states were categorized into six states. The music intervention program was provided twice a week. Results: Twenty-eight babies with an average gestational age of 28 weeks (average birth weight of 1.09 kg) had undergone the sessions (average of 16 times) average of 16 times. During the initial period, there were no meaningful differences of the heart rates measured by the physiological functions before and after the sessions. However, as we move to the adaptive phase, the average heart rate was 156.96±12.22, and the pre-discharge was 149.11±12.01, which indicates meaningful differences (P<0.05). Infants’ behavioral function was statistically insignificant. Conclusion: The music intervention techniques in the neonatal intensive care unit environment in Korea have provided positive influence to VLBWIs' physiological reactions. We were not able to come up with the relevant indicators during this phase of the study but we do plan to announce the future study results after indexing the observation results.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":"27 1","pages":"174-180"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48223945","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: 0