1.A Case Report of Alobar Holoprosencepha ly with Cyclopia and Arrhinia: The Long est-Surviving Infant without Life-Sustain ing Interventions
Yejun LEE ; Misun YANG ; So Yoon AHN ; Se In SUNG ; Yun Sil CHANG
Perinatology 2024;35(4):146-151
Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.
2.A Case Report of Alobar Holoprosencepha ly with Cyclopia and Arrhinia: The Long est-Surviving Infant without Life-Sustain ing Interventions
Yejun LEE ; Misun YANG ; So Yoon AHN ; Se In SUNG ; Yun Sil CHANG
Perinatology 2024;35(4):146-151
Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.
3.A Case Report of Alobar Holoprosencepha ly with Cyclopia and Arrhinia: The Long est-Surviving Infant without Life-Sustain ing Interventions
Yejun LEE ; Misun YANG ; So Yoon AHN ; Se In SUNG ; Yun Sil CHANG
Perinatology 2024;35(4):146-151
Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.
4.A Case Report of Alobar Holoprosencepha ly with Cyclopia and Arrhinia: The Long est-Surviving Infant without Life-Sustain ing Interventions
Yejun LEE ; Misun YANG ; So Yoon AHN ; Se In SUNG ; Yun Sil CHANG
Perinatology 2024;35(4):146-151
Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.
5.A Case Report of Alobar Holoprosencepha ly with Cyclopia and Arrhinia: The Long est-Surviving Infant without Life-Sustain ing Interventions
Yejun LEE ; Misun YANG ; So Yoon AHN ; Se In SUNG ; Yun Sil CHANG
Perinatology 2024;35(4):146-151
Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.
6.Unenhanced Breast MRI With Diffusion-Weighted Imaging for Breast Cancer Detection: Effects of Training on Performance and Agreement of Subspecialty Radiologists
Yeon Soo KIM ; Su Hyun LEE ; Soo-Yeon KIM ; Eun Sil KIM ; Ah Reum PARK ; Jung Min CHANG ; Vivian Youngjean PARK ; Jung Hyun YOON ; Bong Joo KANG ; Bo La YUN ; Tae Hee KIM ; Eun Sook KO ; A Jung CHU ; Jin You KIM ; Inyoung YOUN ; Eun Young CHAE ; Woo Jung CHOI ; Hee Jeong KIM ; Soo Hee KANG ; Su Min HA ; Woo Kyung MOON
Korean Journal of Radiology 2024;25(1):11-23
Objective:
To investigate whether reader training improves the performance and agreement of radiologists in interpreting unenhanced breast magnetic resonance imaging (MRI) scans using diffusion-weighted imaging (DWI).
Materials and Methods:
A study of 96 breasts (35 cancers, 24 benign, and 37 negative) in 48 asymptomatic women was performed between June 2019 and October 2020. High-resolution DWI with b-values of 0, 800, and 1200 sec/mm 2 was performed using a 3.0-T system. Sixteen breast radiologists independently reviewed the DWI, apparent diffusion coefficient maps, and T1-weighted MRI scans and recorded the Breast Imaging Reporting and Data System (BI-RADS) category for each breast. After a 2-h training session and a 5-month washout period, they re-evaluated the BI-RADS categories. A BI-RADS category of 4 (lesions with at least two suspicious criteria) or 5 (more than two suspicious criteria) was considered positive.The per-breast diagnostic performance of each reader was compared between the first and second reviews. Inter-reader agreement was evaluated using a multi-rater κ analysis and intraclass correlation coefficient (ICC).
Results:
Before training, the mean sensitivity, specificity, and accuracy of the 16 readers were 70.7% (95% confidence interval [CI]: 59.4–79.9), 90.8% (95% CI: 85.6–94.2), and 83.5% (95% CI: 78.6–87.4), respectively. After training, significant improvements in specificity (95.2%; 95% CI: 90.8–97.5; P = 0.001) and accuracy (85.9%; 95% CI: 80.9–89.8; P = 0.01) were observed, but no difference in sensitivity (69.8%; 95% CI: 58.1–79.4; P = 0.58) was observed. Regarding inter-reader agreement, the κ values were 0.57 (95% CI: 0.52–0.63) before training and 0.68 (95% CI: 0.62–0.74) after training, with a difference of 0.11 (95% CI: 0.02–0.18; P = 0.01). The ICC was 0.73 (95% CI: 0.69–0.74) before training and 0.79 (95% CI: 0.76–0.80) after training (P = 0.002).
Conclusion
Brief reader training improved the performance and agreement of interpretations by breast radiologists using unenhanced MRI with DWI.
7.Rutaecarpine, Isolated from Evodia rutaecarpa, Inhibits Epithelial-Mesenchymal Transition and Cellular Senescence in a Mouse Model of Pulmonary Fibrosis
Eun CHOI ; Yeseul CHO ; Misu KIM ; Hee JIN ; Youngjo YOO ; Won Keun OH ; Yun-sil LEE
Natural Product Sciences 2024;30(3):190-197
Cellular senescence, a type of cytostasis, is the irreversible inhibition of the natural cell division in proliferating cells, resulting from various cellular stresses, including telomere shortening, DNA damage, mitochondrial dysfunctions, and pro-inflammatory responses. While cellular senescence can facilitate beneficial physiological processes such as tissue repair and wound healing, senescent cells also contribute to pathophysiological processes of agerelated diseases, including fibrotic lung diseases. The cellular senescence model and co-culture system were established to explore the underlying mechanisms associated with cellular senescence and fibrosis. Rutaecarpine is a bioactive alkaloid isolated from Evodia rutaecarpa (Rutaceae), a traditional herbal medicine. Rutaecarpine enhanced the promotor activity of E-cadherin, reduced TGF-β-induced reorganization of the actin cytoskeleton, and finally inhibited epithelialmesenchymal transition. Rutaecarpine also attenuated fibrotic and senescence features in bleomycin-induced lung fibrosis model. Here, we suggest the relevance between senescence and fibrosis, and a potential therapeutic approach of targeting senescence to attenuate lung fibrosis development.
8.Molecular detection of Borrelia theileri in cattle in Korea
Hyeon-Ji HYUNG ; Yun-Sil CHOI ; Jinho PARK ; Kwang-Jun LEE ; Jun-Gu KANG
Parasites, Hosts and Diseases 2024;62(1):151-156
Bovine borreliosis, caused by Borrelia theileri which is transmitted via hard tick bites, is associated with mild clinical symptoms, such as fever, lethargy, hemoglobinuria, anorexia, and anemia. Borrelia theileri infects various animals, such as cattle, deer, horses, goats, sheep, and wild ruminants, in Africa, Australia, and South America. Notably, no case of B. theileri infection has been reported in Korean cattle to date. In this study, 101 blood samples were collected from a Korean indigenous cattle breed, among which 1.98% tested positive for B. theileri via nested PCR. The obtained sequences exhibited high homology with B. theileri strains identified in other regions. Phylogenetic analysis of 16S rRNA confirmed the B. theileri group affiliation; however, flagellin B sequences exhibited divergence, potentially due to regional evolutionary differences. This study provides the first molecular confirmation of B. theileri infection in Korean livestock. Further isolation and nucleotide sequence analyses are necessary to better understand the presence of B. theileri strains in cows in Korea.
9.Major Congenital Anomalies in Korean Livebirths in 2013–2014: Based on the National Health Insurance Database
Jin A LEE ; Soon Min LEE ; Sung-Hoon CHUNG ; Jang Hoon LEE ; Jae Won SHIM ; Jae Woo LIM ; Chang-Ryul KIM ; Yun Sil CHANG
Journal of Korean Medical Science 2023;38(39):e304-
Background:
In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and longterm mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies.
Methods:
Korean National Health Insurance claim data were obtained for neonates born in 2013–2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence.
Results:
The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery.
Conclusion
The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
10.Intravascular NK/T-cell lymphoma: a case report and literature review
Ji Min NA ; Wookjae JUNG ; Minhye KIM ; Yun-Hong CHEON ; Jong Sil LEE ; Dae Hyun SONG ; Jung Wook YANG
Journal of Pathology and Translational Medicine 2023;57(6):332-336
Intravascular lymphoma is characterized by an exclusively intravascular distribution of tumor cells. Intravascular natural killer/T-cell lymphoma (IVNKTL) is extremely rare, highly aggressive, commonly Epstein-Barr virus (EBV)–positive, and predominantly affects the skin and central nervous system. Here we report a case of IVNKTL diagnosed in a 67-year-old female, presenting with persistent intermittent fever and skin rashes throughout the body. Incisional biopsy of an erythematous lesion on the chest exhibited aggregation of medium to large-sized atypical lymphoid cells confined to the lumen of small vessels that were positive for CD3, granzyme B, and CD56 on immunohistochemistry and EBV-encoded RNA in situ hybridization. EBV DNA was also detected in serum after diagnosis. With a review of 26 cases of IVNKTL to date, we suggest that active biopsy based on EBV DNA detection may facilitate early diagnosis of IVNKTL.

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