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

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 ; Cesarean Section ; Child ; Education ; Female ; Humans ; Illegitimacy* ; Internet ; Mothers ; Parturition ; Pregnancy* ; Red Cross ; Seoul ; Single Person* ; Smoke ; Smoking

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* ; 5' Untranslated Regions/genetics ; Adult ; Antisense Elements (Genetics) ; Brain Neoplasms/pathology ; 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

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.

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.

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 ; Child ; Colonoscopy ; Duodenum ; Endoscopy* ; Esophagus ; Graft vs Host Disease* ; Hemorrhage ; Humans ; Seoul ; Sigmoidoscopy* ; Stem Cell Transplantation ; Stomach

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 ; Bone and Bones ; Bone Marrow ; Dogs* ; Inflammation ; Osseointegration ; Tooth

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 ; Anemia ; Asthma ; Child* ; Dermatitis, Atopic ; Diagnosis ; Diarrhea ; Eosinophilia ; Eosinophils* ; Gastroenteritis* ; Humans ; Hypersensitivity ; Hypoalbuminemia ; Medical Records ; Pediatrics ; Peptic Ulcer ; Recurrence ; Rhinitis ; Seoul ; Steroids ; Ulcer

BACKGROUND: A dynamic preload index such as stroke volume variation (SVV) is not as reliable in spontaneous breathing (SB) patients as in mechanically ventilated patients. This study examined the hypothesis that spectral analysis of hemodynamic variables during paced breathing (PB) activity may be a feasible index of volume changes and fluid responsiveness, despite insufficient respiratory changes in the preload index during SB activity. METHODS: Blood pressure and stroke volume (SV) were measured in 16 subjects undergoing PB (15 breaths/min), using a Finometer device and the Modelflow method. Respiratory systolic pressure variation (SPV) and SVV were measured and respiratory frequency (RF, 0.2-0.3 Hz) of power spectra of SPV (SPV(RF)) and SVV (SVV(RF)) were computed using fast Fourier transformation. Progressive hypovolemia was simulated with lower body negative pressure (LBNP). Volume challenges were produced by infusion of normal saline and subsequent release of LBNP to baseline. Fluid responsiveness, defined as a >20% increase in SV, was assessed by the area under the curve (AUC) of receiver operating characteristic curves. RESULTS: Graded hypovolemia caused a significant increase in SPV(RF) and a decrease in SVV(RF). During volume expansion, SPV(RF) decreased and SVV(RF) rose significantly. Fluid responsiveness was better predicted with SVV(RF) (AUC 0.75) than with SPV(RF), SPV, or SVV. SVV(RF) before volume challenge was significantly correlated with volume expansion-induced changes in SV (r = -0.64). CONCLUSIONS: These results suggest that RF spectral analysis of dynamic preload variables may enable the detection of volume change and fluid responsiveness in SB hypovolemic patients performing PB activity.
Blood Pressure ; Fourier Analysis ; Hemodynamics ; Humans ; Hypovolemia ; Lower Body Negative Pressure ; Respiration ; ROC Curve ; Stroke Volume

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 ; Ductus Arteriosus, Patent/diagnosis ; 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