1.The Prevalence and Genetic Pattern of Clinodactyly in Korean Populations.
Duhyun SONG ; Junhyuk CHUNG ; Hye Gyeong SHIN ; Soo Jung JUNG ; Jae Ho LEE
Korean Journal of Physical Anthropology 2016;29(3):99-103
Clinodactyly, as rare congenital malformation, refers to a curvature of a digit in a radial or ulnar direction in the coronal plane. The abnormality is inherited as an autosomal dominant trait. And its frequency was low, however, it was higher by accompanying other congenital anomaly. In present study, the frequency and genetic characteristics of clinodactyly were investigated. In 100 family (382 peoples), clinodactyly was found in 4.7% (n=18). All clinodactyly were bilateral and it was more frequent in female (6.8%) than male (2.6%), without statistical difference (p=0.056). Its inheritance was autosomal dominant trait in 80% (4/5) families, however, one family did not have any inheritance pattern. We described the frequency and clinical implication of clinodactyly, and this description will be lead to an improved understanding of its spectrum and inheritance.
Female
;
Hand Deformities
;
Humans
;
Inheritance Patterns
;
Male
;
Prevalence*
;
Wills
2.5' CpG island methylation of p16 is associated with absence of p16 expression in glioblastomas.
Sung Hye PARK ; Kyeong Cheon JUNG ; Jae Y RO ; Gyeong Hoon KANG ; Shin Kwang KHANG
Journal of Korean Medical Science 2000;15(5):555-559
Recent evidence shows that transcriptional silencing as a consequence of hypermethylation of CpG islands is an important mechanism in the inactivation of p16INK4 tumor suppressor gene. This study is designed to clarify the significance of p16INK4 hypermethylation in 23 cases of glioblastomas (GBMs) by methylation-specific polymerase chain reaction (PCR) and p16 immunostaining. Fourteen cases (60.9%) out of 23 GBMs revealed hypermethylation on p16. p16 immunostaining revealed that 13 (93%) of these 14 hypermethylation cases showed complete loss of immunoreactivity and only one (7%) case retained immunoreactivity. Among 9 methylation-negative cases, 4 were immunonegative, which might be related to mutations or deletions other than hypermethylation. The most significant finding was that of 17 cases with immunonegativity, 13 cases (76.5%) showed hypermethylation. We reconfirmed that p16 hypermethylation may be one of the major mechanisms of tumorigenesis of GBMs and the results between the methylation specific-PCR study and p16 immunostaining had a good correlation.
5' Untranslated Regions/metabolism*
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5' Untranslated Regions/genetics
;
Adult
;
Antisense Elements (Genetics)
;
Brain Neoplasms/pathology
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Brain Neoplasms/genetics*
;
Brain Neoplasms/chemistry
;
CpG Islands/physiology*
;
DNA Methylation*
;
Female
;
Gene Silencing/physiology
;
Glioblastoma/pathology
;
Glioblastoma/genetics*
;
Glioblastoma/chemistry
;
Human
;
Male
;
Middle Age
;
Polymerase Chain Reaction
;
Protein p16/genetics*
;
Protein p16/analysis
3.The Obstetrical Study on Pregnancy and Delivery of Unmarried Mother.
Mi Suk LEE ; Se Gwon JANG ; Gyeong Jae SHIN ; Yong Seop LEE
Korean Journal of Perinatology 2007;18(3):222-232
OBJECTIVE: This study is focused on providing baseline data to help and guide unmarried mothers throughout their pregnancy and delivery. METHODS: We surveyed 165 unmarried mothers who gave birth from January, 2003 to December, 2006 at Seoul Red Cross Hospital. They were divided into three age groups; 10's group, 20's group, and 30's to 40's group, and obstetric and social aspects of each group was analyzed with Chi-square test (x2), ANOVA, using SPSS (Ver. 10.0) verified with 95% of significance level. RESULTS: In this study, 61.1% of all unmarried mothers were in their 20's. Unmarried mothers were examined on the average 3.88 times before giving birth and 53.3% of them recognized their pregnancy before 3 months gestation. Unmarried mothers depend upon, mass communication such as the internet for medical information. Cesarean section rate was 21.8%, and the older the unmarried mothers are, the higher it gets. 22.2% of unmarried mothers have a higher education background; presently college students or above. Their smoking rate was 53.3%, which means more than half of them have smoked. 70.3% of the mothers in the survey wanted their children to be adopted after delivery. CONCLUSION: In this time of lowering birth rates, we should reconsider today's fragmentary welfare policies which only provide financial aid for delivery. It is necessary to provide welfare services which can cover delivery and rearing as well, so unmarried mothers choose to bring up their own children instead of sending the children off for adoption.
Birth Rate
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Cesarean Section
;
Child
;
Education
;
Female
;
Humans
;
Illegitimacy*
;
Internet
;
Mothers
;
Parturition
;
Pregnancy*
;
Red Cross
;
Seoul
;
Single Person*
;
Smoke
;
Smoking
4.Posterior Reversible Encephalopathy after Quetiapine Overdose
Min KIM ; Jae Hyun JEON ; Man Gyeong HAN ; Dong Hoon SHIN
Journal of the Korean Neurological Association 2023;41(3):229-233
Quetiapine is an atypical antipsychotic drug that can cause sinus tachycardia, hypotension, coma, etc. with overdose, and rarely convulsions, rhabdomyolysis and neuroleptic malignant syndrome. Posterior reversible encephalopathy syndrome usually occurs in association with hypertension, but can occur rarely in rhabdomyolysis accompanied by acute kidney injury and arginine vasopressin axis hyperstimulation. We report the experience of a patient hospitalized with a quetiapine overdose who developed drug-induced rhabdomyolysis and reversible encephalopathy without hypertension after acute renal injury.
5.Central odontogenic fibroma case report
Su-Wan KIM ; Jae-Seek YOU ; Gyeong-Yun KIM ; Dong-Ho SHIN
Oral Biology Research 2024;48(1):26-30
Central odontogenic fibroma (COF) is a rare tumor, accounting for only 0.1% of all odontogenic tumors of the jaw. Clinically, these tumors grow slowly and expand the cortical bone without causing pain. Radiographically, they typically appear as unilocular radiolucent lesions with relatively well-defined linings, although multilocular lesions can also be observed. In some cases, the lesion may lead to root resorption of affected teeth and increased tooth mobility. The standard treatment for COF is surgical excision.However, due to its rarity, the optimal approach regarding affected tooth extraction remains unclear. In this report, we present cases of COF in 58- and 56-year-old females, outlining the diagnostic workup, treatment strategy, and postoperative outcomes, particularly regarding affected tooth extraction. Through this case study, we aim to contribute to the existing literature on COF management and achieve successful treatment outcomes.
6.Stepwise Endoscopy Based on Sigmoidoscopy in Evaluating Pediatric Graft-versus-Host Disease.
Kyung Jae LEE ; Shin Jie CHOI ; Hye Ran YANG ; Ju Yuong CHANG ; Hyoung Jin KANG ; Hee Young SHIN ; Gyeong Hoon KANG ; Jae Sung KO ; Jin Soo MOON
Pediatric Gastroenterology, Hepatology & Nutrition 2016;19(1):29-37
PURPOSE: The aim of our study was to establish a safe and convenient diagnostic method for acute gastrointestinal (GI) graft-versus-host disease (GVHD) in children by determining the sensitivity and negative predictive values of upper and lower endoscopic biopsies for children suspected of GI GVHD. METHODS: Patients suspected of GI GVHD who received endoscopic evaluation within 100 days after stem cell transplantation and endoscopies between January 2012 and March 2014 in Seoul National University Children's Hospital were included in our study. RESULTS: Fifteen patients with a total of 20 endoscopic procedures were included in our study. Sensitivity at the esophagus, stomach, and duodenum were 22.2%, 30.0%, and 80.0%, respectively. Negative predictive values at the esophagus, stomach, and duodenum were 22.2%, 30.0%, and 60.0%, respectively. Overall sensitivity and negative predictive values of upper endoscopic biopsy for GVHD were 77.8% and 50.0%, respectively. Overall sensitivity and negative predictive values of lower endoscopic biopsy for GVHD were 88.9% and 66.7%, respectively. CONCLUSION: We recommend flexible sigmoidoscopy as a safe and accurate diagnostic tool for GVHD, similar to other studies reported previously. However, if there is no evidence of GVHD on sigmoidoscopy with high index of suspicion of GI bleeding, full colonoscopy and upper endoscopy should be considered.
Biopsy
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Child
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Colonoscopy
;
Duodenum
;
Endoscopy*
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Esophagus
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Graft vs Host Disease*
;
Hemorrhage
;
Humans
;
Seoul
;
Sigmoidoscopy*
;
Stem Cell Transplantation
;
Stomach
7.Comparative S tudy Of Osseointergration On Different Immediate Implants In Extraction Sockets Of Beagle Dogs.
Ki Jong SUN ; Jae Young PARK ; Eun Gyeong JUNG ; Mee Ran SHIN ; Yun Sang KIM ; Sung Hee PI ; Hyung Shik SHIN ; Hyung Keun YOU
The Journal of the Korean Academy of Periodontology 2007;37(2):209-221
Recently, immediately after losing teeth, implant placement has been greatly attempted. Implant can help restoration of tooth functions within short time. This study was an attempt to examine the extent of osseointergation when the implants will be placed immediately after teeth extraction using domestic implant systems. Implants were inserted in beagle dogs and evaluated the clinical, radiological, histological and histomorphometric assay at 6 weeks and 12 weeks. For experimental materials, STAGE-1(R)(4.1x8mm, Lifecore, USA), SS-III(R)(4.0x8mm, OSSTEM, Korea) and IFI(R)(4.0x8 mm, DIO, Korea) implants treated with RBM were placed. All the placed site showed normal results without fail and inflammation clinically and radiologically. As a result of measurement by periotest, it showed -2 ~ -5 and stable status comprehensively. There was no statistically significant difference among implants(p<0.05). Bone tissue adjacent to implant showed increased marrow tissue at 6 weeks. Nevertheless, osteogenic structure was not observed remarkably. In a 12 weeks opinion, bone tissue composed of osseointegration along implant interface showed significantly decreased marrow tissue containing central vessels unlike a 6 weeks opinion and matured compact bone whose osteogenic structure is well formed. BIC were 42.4%, 32.0% and 34.9%, respectively in 6 weeks and there was no statistically significant difference among groups(p<0.05). In 12 weeks, BIC were 58.8%, 61.9% and 57.5%, respectively and there was no statistically significant difference among groups(p<0.05). It is considered that all 3 implant systems are suitable for immediate implant placement.
Animals
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Bone and Bones
;
Bone Marrow
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Dogs*
;
Inflammation
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Osseointegration
;
Tooth
8.Clinical Manifestations and Treatment Outcomes of Eosinophilic Gastroenteritis in Children.
Jong Sub CHOI ; Shin Jie CHOI ; Kyung Jae LEE ; Ahlee KIM ; Jung Kyung YOO ; Hye Ran YANG ; Jin Soo MOON ; Ju Young CHANG ; Jae Sung KO ; Gyeong Hoon KANG
Pediatric Gastroenterology, Hepatology & Nutrition 2015;18(4):253-260
PURPOSE: The aim of the present study was to investigate the clinical features and outcome of eosinophilic gastroenteritis (EGE) in children. METHODS: Our study enrolled 24 children who were diagnosed with EGE from 1993 to 2014 at the Department of Pediatrics, Seoul National University Children's Hospital. The patients' clinical manifestations, treatments, and outcomes were reviewed from the medical records. RESULTS: The mean age at diagnosis was 5.3 years. Most patients had gastrointestinal symptoms including diarrhea (54.2%) and abdominal pain (45.8%). Peripheral eosinophilia was present in 91.7% of the patients. Thirteen patients (54.2%) showed anemia, and 15 patients (62.5%) had hypoalbuminemia. EGE was classified as mucosal, subserosal, or muscular in 75.0%, 20.8%, and 4.2% of cases, respectively. Three patients showed gastroduodenal ulcers upon endoscopic analysis. A history of allergy was reported in 13 patients, including atopic dermatitis, allergic rhinitis, and asthma. Five patients (20.8%) improved with food restrictions. Among the 19 patients treated with steroids, 11 (57.9%) discontinued steroid treatment without subsequent relapse, 4 (21.1%) relapsed after ceasing steroid treatment, and 4 (21.1%) showed no response to steroids. Two patients who were resistant to steroids underwent therapeutic surgery. The presence of gastroduodenal ulcers was significantly associated with relapse and steroid resistance. CONCLUSION: A high suspicion of EGE is warranted when children have nonspecific gastrointestinal symptoms and peripheral eosinophilia. Most patients improved with food restrictions or steroid treatment, although one-third of patients showed a relapse or steroid resistance.
Abdominal Pain
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Anemia
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Asthma
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Child*
;
Dermatitis, Atopic
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Diagnosis
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Diarrhea
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Eosinophilia
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Eosinophils*
;
Gastroenteritis*
;
Humans
;
Hypersensitivity
;
Hypoalbuminemia
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Medical Records
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Pediatrics
;
Peptic Ulcer
;
Recurrence
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Rhinitis
;
Seoul
;
Steroids
;
Ulcer
9.A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis.
Jae Sung KO ; Byung Sam CHOI ; Jeong Kee SEO ; Jee Yeon SHIN ; Jong Hee CHAE ; Gyeong Hoon KANG ; Ran LEE ; Chang Seok KI ; Jong Won KIM
Journal of Korean Medical Science 2010;25(1):159-162
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
Amino Acid Substitution
;
Base Sequence
;
Cholestasis/*diagnosis
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Ductus Arteriosus, Patent/diagnosis
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Electroencephalography
;
Humans
;
Infant, Newborn
;
Liver/pathology/ultrasonography
;
Male
;
*Mutation, Missense
;
Oxidoreductases Acting on CH-CH Group Donors/*genetics
;
Phenotype
;
Smith-Lemli-Opitz Syndrome/diagnosis/*genetics
10.Association between Interferon-Inducible Protein 6 (IFI6) Polymorphisms and Hepatitis B Virus Clearance.
Geun Hee PARK ; Kyoung Yeon KIM ; Sung Won CHO ; Jae Youn CHEONG ; Gyeong Im YU ; Dong Hoon SHIN ; Kyu Bum KWACK
Genomics & Informatics 2013;11(1):15-23
CD8+ T cells are key factors mediating hepatitis B virus (HBV) clearance. However, these cells are killed through HBV-induced apoptosis during the antigen-presenting period in HBV-induced chronic liver disease (CLD) patients. Interferon-inducible protein 6 (IFI6) delays type I interferon-induced apoptosis in cells. We hypothesized that single nucleotide polymorphisms (SNPs) in the IFI6 could affect the chronicity of CLD. The present study included a discovery stage, in which 195 CLD patients, including chronic hepatitis B (HEP) and cirrhosis patients and 107 spontaneous recovery (SR) controls, were analyzed. The genotype distributions of rs2808426 (C > T) and rs10902662 (C > T) were significantly different between the SR and HEP groups (odds ratio [OR], 6.60; 95% confidence interval [CI], 1.64 to 26.52, p = 0.008 for both SNPs) and between the SR and CLD groups (OR, 4.38; 95% CI, 1.25 to 15.26; p = 0.021 and OR, 4.12; 95% CI, 1.18 to 14.44; p = 0.027, respectively). The distribution of diplotypes that contained these SNPs was significantly different between the SR and HEP groups (OR, 6.58; 95% CI, 1.63 to 25.59; p = 0.008 and OR, 0.15; 95% CI, 0.04 to 0.61; p = 0.008, respectively) and between the SR and CLD groups (OR, 4.38; 95% CI, 1.25 to 15.26; p = 0.021 and OR, 4.12; 95% CI, 1.18 to 14.44; p = 0.027, respectively). We were unable to replicate the association shown by secondary enrolled samples. A large-scale validation study should be performed to confirm the association between IFI6 and HBV clearance.
Apoptosis
;
Fibrosis
;
Genotype
;
Hepatitis
;
Hepatitis B
;
Hepatitis B virus
;
Hepatitis B, Chronic
;
Humans
;
Liver Diseases
;
Negotiating
;
Polymorphism, Single Nucleotide
;
T-Lymphocytes