No abstract available.
Antibodies*

No abstract available.
Antibodies* ; Immunoglobulin G* ; Immunoglobulin M*

PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for a two-year period. All outcome of pregnancies, including liveborn, stillborn, and TOP over 20wks gestation were subjects of this study for the presence of major congenital anomalies. Delivery records of each hospital and pediatric records of one tertiary hospital were collected and analyzed. RESULTS: The total number of pregnancy was 30,319 yielding 30,653 deliveries, including 269 still-born and 27 TOPs. The overall incidence of congenital anomalies was 1.2Yo(366 cases among 30,653 deliveries) with 0.5Yo from primary hospital, 1.4Yo of general hospital deliveries and 4.5Yo of tertiary hospital deliveries. The incidences of selective major congenital anomalies per 1,000 deliveries were 0.82 for Down syndrome, 1.79 for cleft lip with or without cleft palate, and 0.39 for open neural tube defect. CONCLUSION: This pilot study represented the first community-based population data on congenital anomalies in Korea, differing from previous studies based on selective population of relative high-risk population from tertiary hospital delivery. Search for congenital anomalies among cohort by reviewing pediatric records yielded 38Yo of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies. (J Korean Pediatr Soc 2000;43:738-745)
Cleft Lip ; Cleft Palate ; Cohort Studies ; Congenital Abnormalities* ; Databases, Genetic ; Down Syndrome ; Epidemiologic Studies* ; Gyeonggi-do ; Hospitals, General ; Incidence ; Korea ; Neural Tube Defects ; Parturition* ; Pediatrics ; Pilot Projects* ; Pregnancy ; Prospective Studies* ; Tertiary Care Centers

Sacrococcygeal chordoma is a rare malignant tumor which is believed to take its origin from remnants of the fetal notochord, and presents in the sacral hollow or occasionally posteriorly. The growth is leisurely and it is invasive rather than metastatic. In treatment, there is evidence that early diagnosis of sacrococcygeal chordoma followed by radical resection c palliative radiotherapy does provide the opportunity for cure. We have experienced two cases of sacrococcygeal chordoma, which were treated with one case of a complete surgical resection and the other case of only biopsy.
Biopsy ; Chordoma ; Early Diagnosis ; Notochord ; Radiotherapy

Reports on the comparison of clinical effect between non-surgical and surgical therapy, and the change of the clinical parameters during maintenance phase have been rarely presented in Korea. This study was to observe the clinical changes during maintenance phase of 6 months in patients with chronic periodontitis treated by non-surgical or surgical therapy in Department of Periodontics, Chonnam National University Hospital. Among the systemically healthy and non-smoking patients with moderate to severe chronic periodontitis, twenty eight patients (mean age: 47.5 years) treated by non-surgical therapy (scaling and root planning) and nineteen patients (mean age: 47.3 years) treated by surgical therapy (flap surgery)were included in this study. The periodontal supportive therapy including recall check and oral hygiene reinforcement was started as maintenance phase since 1 month of healing after treatment. Probing depth, gingival recession, clinical attachment level and tooth mobility were recorded at initial, baseline and 1, 2, 3 and 6 month of maintenance phase. The clinical parameters were compared between the non-surgical and surgical therapies using Student t-test and repeated measure ANOVA by initial probing depth and surfaces. Surgical therapy resulted in greater change in clinical parameters than non-surgical therapy. During the maintenance phase of 6 months, the clinical effects after treatment had been changed in different pattern according to initial probing depth and tooth surface. During maintenance phase, probing depth increased more and gingival recession increased less after surgical therapy, compared to non-surgical therapy. The sites of initial probing depth less than 3 mm lost more clinical attachment level, and the sites of initial probing depth more than 7 mm gained clinical attachment level during maintenance phase after non-surgical therapy, compared to surgical therapy. Non-surgical therapy resulted in greater reduction of tooth mobility than surgical therapy during maintenance phase. These results indicate that the clinical effects of non-surgical or surgical therapy may be different and may change during the maintenance phase.
Chronic Periodontitis* ; Gingival Recession ; Humans ; Jeollanam-do ; Korea ; Oral Hygiene ; Periodontics ; Tooth ; Tooth Mobility

The osteopoikilosis is commonly known as harmatoma in which metaphyseal and epiphyseal area of long bones and the bone of pelvis, hands, feet and et al, contain islands of dense cortical bone with normal Harversian system without any symptoms. The radiologic findings of the osteopoikilosis is multitude of oval or well-circumscribed areas of increased density, 2 to 10 mm in size, in symmetrical distribution and normal uptake in bone scan. Buschke-Ollendorff syndrome, which is transmitted by autosomal dominant, is characterized by the association of osteopoikilosis and connective tissue nevi which are popular and symmetrically distributed lesions on chest, back, buttock, thigh or arm. Authors report three Buschke-Ollendorff syndrome, studied by CT scan, MRI, bone scan and bone and skin biopsy, among five patients associated with osteopoikilosis found by simple radiologic study from ten members in one family with their pedigree.
Arm ; Biopsy ; Buttocks ; Connective Tissue ; Foot ; Hand ; Humans ; Islands ; Magnetic Resonance Imaging ; Nevus ; Osteopoikilosis ; Pedigree ; Pelvis ; Skin ; Thigh ; Thorax ; Tomography, X-Ray Computed

PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. MATERIALS AND METHODS: Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. RESULTS: All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. CONCLUSION: Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.
Abnormalities, Multiple ; Child ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Face ; Fingers ; Genetic Counseling ; Heart Defects, Congenital ; Hematologic Diseases ; Hip Dislocation ; Humans ; Intellectual Disability ; Joint Instability ; Karyotyping ; Medical Records ; Muscle Hypotonia ; Natural History ; Retrospective Studies ; Strabismus ; Vestibular Diseases

Although the incidence of epidemic encephalitis has decreased mardekly nowadays, sporadic cases are stillobserved in Korea. In this study, CT findings of 17 patients with clinically and serologically proven epidemicencephalitis were analized. In principle, CT scans were done at the acute and subacute stage, whithin 20 days fromonset. The results were follows; 1. Of all 17 patients with CT scan, normal scan were demonstrated in 3 cases andabnormal scans in 14 cases. 2. The abnormal CT findings were ; area of low density in 9 cases, brain edema in 7cases, nodular and gyral contrast enhancement in 3 cases, central brain atrophy in 3 cases and hemorrhagic highdensity in 2 cases in order of frequency. 3. The CT findings, according to date of CT scan from onset, were; brainedema and are of low density within 10 days from onset, normal or central brain atrophy between 11 days and 20days, are of hemorrhagic high density and contrast enhanced lesions at both stage. 4. The locational distributionswere; thalamus and cerebral white matter in 7 cases respectively, basal ganglia in 5 cases, cerebral cortex in 4cases and septum pellucidum in 1 case in order of frequency.
Atrophy ; Basal Ganglia ; Brain ; Brain Edema ; Cerebral Cortex ; Encephalitis, Arbovirus ; Humans ; Incidence ; Korea ; Septum Pellucidum ; Thalamus ; Tomography, X-Ray Computed ; White Matter

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of streaks, patches and swirling hypopigmentation over variable portions of the body surface. Multiple extracutaneous abnormalities involving the central nervous system, musculoskeletal structures and the eyes occur in over two-thirds of the cases. This report describes a patient with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Chromosomal analysis of fibroblasts of depigmented skin obtained from the patients showed mosaicism.
Central Nervous System ; Cerebrum ; Fibroblasts ; Humans ; Hypertrophy ; Hypopigmentation* ; Malformations of Cortical Development* ; Mosaicism ; Neurocutaneous Syndromes ; Skin

To address the limitations of animal testing, scientific research is increasingly focused on developing alternative testing methods. These alternative tests utilize cells or tissues derived from animals or humans for in vitro testing, as well as artificial tissues and organoids. In western countries, animal testing for cosmetics has been banned, leading to the adoption of artificial skin for toxicity evaluation, such as skin corrosion and irritation assessments. Standard guidelines for skin organoid technology becomes necessary to ensure consistent data and evaluation in replacing animal testing with in vitro methods. These guidelines encompass aspects such as cell sourcing, culture techniques, quality requirements and assessment, storage and preservation, and organoid-based assays.