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- 저자 : ( Yoong-a Suh ) (검색결과 3 건)
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Suh, Yoong-a,Sohn, Young Bae,Park, Moon Sung,Lee, Jang Hoon The Korean Society of Neonatology 2021 Neonatal medicine Vol.28 No.2
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 prognosis, 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 hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous 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.
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( Yoong-a Suh ),( Hae Jeong Lee ),( Seoheui Choi ),( Moon Sung Park ),( Jang Hoon Lee ) 대한주산의학회 2024 Perinatology Vol.35 No.1
Objective: Bronchopulmonary dysplasia (BPD) is a significant respiratory disorder in premature infants, and its prevalence remains high at 35% to 40% of very low gestational age (<28 weeks gestation). The aim of this study is to analyze the respiratory outcomes of BPD in neonatal intensive care unit as well as respiratory outcomes over a corrected age of 18 to 24 months using 3 different definitions of BPD (National Institutes of Health [NIH] 2001, National Institute of Child Health and Human Development [NICHD] 2018 and Jensen 2019). Methods: We conducted a study on infants under 32 weeks of gestation between 2012 and 2021 at Ajou university hospital. First, we compared the incidence of BPD, mortality, and length of hospital stays. To evaluate long-term respiratory outcomes, the number of re-admissions and prescriptions due to respiratory problems were analyzed. Results: NIH 2001 showed an incidence of 281 (40.0%), NICHD 2018 showed 139 (19.7%), and Jensen 2019 showed 137 (19.5%). In grade III of Jensen 2019, it demonstrated the highest severity with mortality rate of 29.4% and an average length of hospital stay of 42.5 weeks. Also, it was confirmed that the period of use of invasive ventilator was the longest at 87.8±60.3 days. In the analysis of re-admission and prescription counts, grade III showed statistically significant higher occurrences in both NICHD 2018 and Jensen 2019 than NIH 2001. Conclusion: The latest definitions of BPD have demonstrated to better represent both short-term and long-term respiratory severity in premature infants less than 32 weeks.
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Hong Seok Jin,Park Ji Eun,Sohn Young Bae,Suh Yoong A,Lee Jang Hoon,Park Moon Sung 대한신생아학회 2022 Neonatal medicine Vol.29 No.4
Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.
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