• 한국동물학회:학술대회논문집
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• 한국동물학회 1997년도 한국생물과학협회 학술발표대회
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• pp.210.1-210
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• 1997

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• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Clinical and Experimental Reproductive Medicine
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• 제27권2호
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• pp.179-182
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• 2000

This study was performed to determine whether the $LH{\beta}$-subunit gene missense mutation is present in Korean infertile patients with 46,XX POF women. The variants of $LH{\beta}$ exon 2 (Trp 8Arg; TGG to CGG and Ile15Thr; ATC to ACC) were studied in forty-four 46,XX idiopathic POF and 54 nonpregnant women. The $LH{\beta}$ exon 2 variants were more frequent in POF patients (20.5%) than nonpregnant (16.7%) women (p>0.05). POF patients with the variant was slightly higher than nonpregnant women with the variant.

• 대한의용생체공학회:의공학회지
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• 제42권3호
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• pp.86-93
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• 2021

Purpose: The purpose of this study is to find out the cognizance of medical device safety information (MDSI) monitoring in the hospital and oriental hospital workers, and the different aspect of MDSI between oriental medical devices and medical devices. Methods: The survey was performed both in the oriental medicine hospital and general hospital. The survey had 16 items; 2 items basic questions, 5 items in the awareness of MDSI, 5 items in the education of MDSI, 4 items in the necessity of defining oriental medical devices and differences between general and oriental medical devices. A total of 120 hospital worker were participated; 60 oriental medicine hospital workers and 60 general hospital workers. They had worked in the oriental medicine or general hospital associated with 'Medical Device Safety Monitoring Center, Dongguk University Ilsan Hospital' in 2019 and 2020. Results: The cognizance of MDSI was high both in oriental medicine hospital and general hospital workers and there were no significant differences between oriental medicine and general hospital workers. When we divided the hospital workers into the senior workers who had worked for over 3 years and junior workers for less than 3 years, the senior workers had higher awareness of MDSI than junior workers. However, the cognizance of education of MDSI was high which was not different between senior and junior workers. Both hospital workers thought that it was necessary to define oriental medicine device legally and the oriental medical device might have low risk and less side effect than medical device. Conclusion: The cognizance of MDSI was high and there was no significant differences between oriental medicine and general hospital workers. Because the senior hospital workers had higher recognition of MDSI, we need to provide the continuous education program for junior hospital workers. Although oriental medical device are thought to be safer than medical device, we need to have a legal definition.

• Perinatology
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• 제29권4호
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• pp.189-194
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• 2018

Congenital neuroblastoma is a rare disease. Placental metastasis is extremely rare and poor prognosis has been reported in neonates. Mirror syndrome could occur in mother with placental metastasis with possibilities of hypertension and edema. We report a case of detection of left suprarenal mass in fetus at $31^{+5}weeks^{\prime}$ gestation. Mother presented with palpitation, edema, headache, and hypertension. Maternal 24 hours urine vanillylmandelic acid (VMA) and normetanephrine (NME) level at 34 weeks' gestation were elevated. Consequently, emergent cesarean section was done. Based on abdominal ultrasonography and whole body magnetic resonance imaging, left adrenal tumor with liver metastasis was suspected. Neuroblastoma was confirmed by liver and placenta biopsy. Chemotherapy was started with Pediatric Oncology Group 9243 at day 7 and changed into Children's Oncology Group 3961 due to cholestasis and poor response during 2nd cycle. Plasma exchange was done for aggravated direct hyperbilirubinemia. The baby expired at 73 days due to multi-organ failure. Maternal symptoms were completely resolved in 2 weeks after delivery along with normalization of the elevated level of VMA and NME. We report a first case of mirror syndrome in Korean mother and fetus resulting from metastatic congenital neuroblastoma to placenta.

• 대한생식의학회:학술대회논문집
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• 대한불임학회 2005년도 제48차 춘계 학술대회
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• pp.117-118
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• 2005

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권5호
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• pp.479-486
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• 2019

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권1호
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• pp.33-33
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• 2017

• BMB Reports
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• 제54권5호
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• pp.284-284
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• 2021

• Archives of Plastic Surgery
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• 제42권4호
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• pp.492-494
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• 2015