• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.313-319
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• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• Sleep Medicine and Psychophysiology
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• v.1 no.1
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• pp.87-98
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• 1994

Objectives: To examine a defect in inhibitory gating of auditory evoked response in schizophrenics, to compare P3 latency and amplitude in negative and positive schizophrenics, and to assess the association of P3 with family history of the psychiatric disorders, electroconvulsive therapy, and clinical features. Methods: 54 schizophrenics(male 31, female 23) and 75 controls(male 33, female 42) were tested with event-related potential paradigm designed to elicit P3 response and Frankfurter Beschwerde Fragebogen. Results: In schizophrenics, the latency of P3 was significantly more delayed and the amplitude of P3 was significantly more reduced than in the controls. Significant differences in P3 latency and amplitude between negative and positive schizophrenics were not found. And significant difference in the P3 latency and amplitude between schizophrenics with family histories of psychiatric disorder and those without family histories of psychiatric disorder was not found also. The P3 latency and amplitude was not significantly related with electroconvulsive therapy and other clinical features such as age, duration of illness, onset of inllness, number of admission, and doses of antipsychotics etc. Conclusion: These results suggested that schizophrenics had a dysfunction in the process of selective attention and that P3 was not significantly related with family history of the psychiatric disorders, positive and negative symptoms, electro1convulsive therapy, and clinical features in schizophrenics.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.3
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• pp.372-380
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• 2004

Cleidocranial dysplasia(CCD) is a congenital disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs. Skeletal abnormalities in CCD are delayed closure of cranial suture and fontanelle, presence of wormian bone and clavicle aplasia. And CCD has an effect on the long bones, phalanges, spine, pelvis, muscles, and central nervous system. Dental manifestations include retention of deciduous teeth, multiple supernumerary teeth, delayed or absent eruption of permanent teeth and formation of cysts around nonerupted teeth. But as a result in common with a lack of medical and physical disability patient may have no substantive complaint, there are many masticatory and psychological problem by absent eruption of permanent teeth after exfoliation of deciduous teeth. For this reason CCD is necessary fo early diagnosis and must be improvement of the patient's appearance as well as provision of a functioning masticatory mechanism by treatment of surgical removal of supernumerary teeth, followed orthodontically eruption of the natural permanent teeth at adequate time.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.111-118
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• 2008

Purpose: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that may result from these diseases. In this study, a cost-benefit analysis was performed on the neonatal screening of maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia in Korea. Materials and Methods: This study included 1,259,220 Korean newborns born between January 2005 to December 2007, who were screened for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia. We calculated and compared the total costs in cases where these four screening tests were implemented, and those where they were not. Results: There were no benefits to screening for maple syrup urine disease or homocystinuria due to their low prevalence for these two tests, the costs exceeded the benefits at benefit:cost ratios of 0.5:1 and 0.6:1, respectively. In contrast, benefits far exceed costs at a ratio of 4.1:1 for galactosemia and 2.9:1 for congenital adrenal hyperplasia. The average benefit:cost ratio for all four tests was 2.0:1. Conclusion: Neonatal screening tests for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia are financially viable.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.987-991
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• 2008

Purpose : Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis (HNL), is a self-limited disease characterized by cervical lymphadenopathy and fever. The etiology of KFD remains unknown; however, the self-limiting nature of HNL suggests the cause of this disease could be viral infection. For this reason, several viruses have been evaluated as possible etiologies of HNL, including Epstein-Barr virus (EBV), human herpesvirus 6 (HHV6), human herpesvirus 8 (HHV8), and cytomegalovirus (CMV). The aim of this study was to examine the relationship of EBV and HHV6 to HNL. Methods : Data pertaining to 51 cases with biopsy-confirmed HNL were collected between January 1999 and December 2005, from the Department of Pathology, College of Medicine, Pusan National University, Busan, Korea. The clinical records-including data regarding age, gender, duration of fever, and lymph node involvementwere reviewed retrospectively. The in situ hybridization (ISH) assay was performed by EBER PNA probe (Dako, Capinteria, CA, USA), and immunohistochemistry testing was performed with anti-HHV type 6 monoclonal antibodies (Chemicon, Temecula, CA, USA). Results : The HNL patients in this study were 24 males and 27 females, ranging in age from seven to 61 years (median: 25.9). ISH for EBV was positive in 8/51 (15.7%) biopsies, and immunohistochemistry for HHV6 was positive in 15/51 (29.4%) biopsies. Serologic analysis of EBV IgM was performed in 23 cases; only one patient was positive for EBV IgM and EBV ISH. Conclusion : Our study could not provide supportive evidence of a viral pathogenesis for HNL; therefore, cases of HNL may not have a dominant viral cause. However, some rare exceptional cases may have been caused by viral infection.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.81-86
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• 2009

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

• Parasites, Hosts and Diseases
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• v.36 no.4
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• pp.241-248
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• 1998

A result of national malaria surveillance in Korean civilians was described. Since a case of indigenous vivax malaria was detected in 1993, a total of 2,198 cases was confirmed by blood smear up to 1997. Of them, 1,548 cases were soldiers serving in the demilitarized zone (DMZ), while 650 cases were civilians. Number of civilian cases was 3 in 1994, 19 in 1995, 71 in 1996, and 557 in 1997. Of them, 239 were ex-soldiers who discharged after military service in the prevalent areas such as Paju, Yonchon, Kimpo, Kangwha, Tongduchon in Kyonggi-do and Chorwon in Kangwon-do while 308 patients were civilian residents in the prevalent areas. Seventy-two patients, living nationwide, had a history of visiting the prevalent areas during transmission season. Only 32 civilian patients denied any relation with the prevalent areas. As a whole, a half of the civilian cases was diagnosed when living in non-prevalent areas. Male patients in their twenties was the highest in number. Annual parasite index is steadily elevated in residents living in the prevalent areas. Monthly incidence showed an unimodal distribution, forming a peak in August. Ex-soldiers exhibited a delayed incubation ranging from 153 to 452 days ($279{\pm}41$ days). The time required for diagnosis was shortened from 23.6 days in 1995 to 13.7 days in 1997. Although the current epidemic of vivax malaria started as a border malaria, it seems highly probable that vivax malaria is established in the local areas and responsible for at least a part of transmission.

• Pediatric Infection and Vaccine
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• v.21 no.2
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• pp.114-120
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• 2014

Purpose: The objective of this study was to assess and investigate the epidemiology of pertussis in infants under 6 months of age. Methods: A prospective study was conducted between October 1, 2011 and April 30, 2013 in CHA Bundang Medical Center, Seongnam, South Korea. Polymerase chain reaction (PCR) or culture was used to detect Bordetella pertussis in nasopharyngeal aspirates from case patients who were hospitalized for acute lower respiratory tract infection (LRTI). In addition, multiplex real-time PCR assays were also performed to detect 6 etiologic viruses, including adenovirus, human metapeumo-virus, influenza virus, parainfluenza virus, respiratory syncytial virus and rhinovirus. Results: Of the 79 enrolled case patients, whose median age was 2 months of age, the most common diagnoses uncovered in this study were acute bronchiolitis (60%) and pneumonia (28%). B. pertussis infection was found in 13 cases (16%), in which 7 (53%) was coinfected with respiratory syncytial virus and 1 (7%) with influenza A virus. Of the 13 patients with B. pertussis infection, 6 (46%) were not vaccinated with the diphtheria, tetanus toxoid, and acellular pertussis vaccine, while 6 (46%) received 1 dose, and 1 (8%) received 2 doses. Conclusion: B. pertussis infection was present in 16% of under 6 month-old infants, who were hospitalized for acute LRTI. Therefore, a nationwide epidemiological surveillance of pertussis, including institutions that cater to infants under 6 months of age is necessary and needed.

• Journal of the korean academy of Pediatric Dentistry
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• v.40 no.3
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• pp.149-158
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• 2013

The purpose of this study was to evaluate the shape and impacted pattern of mesiodens and associated complications using three dimensional images produced by dental CBCT. This study was based on the CBCT (CB Mercury, Hitachi, Tokyo, Japan) radiographic view of 280 pediatric patients who visited the Department of Pediatric Dentistry at the Chosun University Dental Hospital with the chief complain of mesiodens during between 2007 and 2012. Impacted mesiodens occurs more frequently in boys than in girls, the ratio being approximately 3.3:1 and most cases were observed between 6 and 8 years of age. The number of mesiodens per patient was 1.38. Majority of the mesiodens were conical (79.5%) in shape and inverted (48.6%) in direction. The mesio-distal position of mesiodens were the most common in middle sector (81.8%), vertical level were the most common near cervical (60.3%), and labio-palatal position were the most common at palatal side of the dental arch (73.8%). 47.5% of mesiodens had complications and common complications associated with mesiodens were displaced tooth and delayed eruptions. The shape, vertical level, and labio-palatal position of mesiodens had correlations with complications. CBCT appears to be an excellent diagnostic tool, providing three dimensional information and accurate images, for diagnosis of impacted mesiodens.

• Journal of Gastric Cancer
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• v.3 no.4
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• pp.195-200
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• 2003

Purpose: Advancement of computed tomography (CT) hardware and software has allowed thin section scanning and reconstruction of fascinating 2-dimentional (2D) and 3- dimentional (3D) images. Especially, the reconstruction of 3D images of gastrointestinal tract has been used in the detection and diagnosis of pre-malignant and malignant diseases. To compare the efficacy of CT gastrography with conventional upper gastrointenstinal series (UGIs) in gastric cancer patients. Materials and Methods: During Nov. 2002 and Mar. 2003, twenty-seven patients who had gastric cancer received both double contrast upper GI series and CT gastrography prior to radical surgery. Among these patients, nineteen had early gastric cancer (EGC) and 8 had advanced gastric cancer (AGC). Fifteen patients were male and 12 were female. The mean age was 54 yrs (range, $27\∼75$ yrs). The patients were placed on NPO and Stomach was distended with gas in fasting state prior to CT scanning. Double contrast upper GI series were performed as routine manual. CT scan was conducted in all patients using 8 or 16-channel multidetector CT in this study. The collimation and reconstruction for CT scanning were set at 2.5 mm and 1.25 mm, respectively. CT scanning was performed in the supine position. For image processing, CT gastrography, in which raysum and surface rendering images were constructed, virtual and 2D image in coronal and sagittal images were performed. The detectability of gastric cancer was assessed between UGIs and CT gastrography. Results: In AGCs, the detection rate of cancer using CT gastrography and virtual gastroscopy was higher than EGC cases. However, CT gastrography and virtual gastroscopy showed less favorable results than UGIs. Even though only a small number of cases had been studied, we might conclude that CT gastrography and virtual gastroscopy could replace UGIs in the detection of AGC cases. Conclusion: The detection rate used with CT gastrography and Virtual gastroscopy is not better than that of UGIs in early gastric cancer, however, in advanced gastric cancer cases, it is nearly equal to that of UGIs.