No abstract available.
Korea* ; Moyamoya Disease*

No abstract available.
Kasabach-Merritt Syndrome*

No abstract available.
Stevens-Johnson Syndrome*

Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness. The seizures evolved into epilepsia partialis continua and were accompanied by epileptiform discharges from the left frontal area. Three weeks after admission, the patient's seizures were reduced with antiepileptic drugs; however, she developed sleep disturbances, cognitive decline, noticeable oro-lingual-facial dyskinesia, and choreoathetoid movements. Anti-NMDAR encephalitis was confirmed by positive detection of NMDAR antibodies in the patient's serum and cerebrospinal fluid, and her condition slowly improved with immunoglobulin, methylprednisolone, and rituximab. At present, the patient is no longer taking multiple antiepileptic or antihypertensive drugs. Moreover, the patient showed gradual improvement of motor and cognitive function. This case serves as an example that a diagnosis of anti-NMDAR encephalitis should be considered when children with uncontrolled seizures develop dyskinesias without evidence of malignant tumor. In these cases, aggressive immunotherapies are needed to improve the outcome of anti-NMDAR encephalitis.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis* ; Antibodies ; Anticonvulsants ; Antihypertensive Agents ; Cerebrospinal Fluid ; Child* ; Child, Preschool ; Cognition ; Consciousness ; D-Aspartic Acid ; Diagnosis ; Dyskinesias ; Encephalitis ; Epilepsia Partialis Continua* ; Female ; Fever ; Humans ; Immunoglobulins ; Immunotherapy ; Korea* ; Methylprednisolone ; Rituximab ; Seizures ; Virus Diseases

Tibialis anterior muscle hernia is the most common hernia among lower extremity muscles. This condition can be diagnosed by physical examination and radiologic findings, especially by dynamic ultrasonography. There are surgical methods of treatment for muscle hernia, including direct repair, fasciotomy, fascial patch grafting using autologous fascia lata or synthetic mesh. We report a case of tibialis anterior muscle hernia treated with local periosteal rotational flap. Because there are several advantages to the local periosteal rotational flap, such as lack of donor site morbidity, lack of skin irritation, low cost, simplicity, and an easy approach, this technique could be an option for tibialis anterior muscle hernia.
Fascia Lata ; Hernia ; Humans ; Lower Extremity ; Muscle, Skeletal ; Muscles ; Physical Examination ; Skin ; Tissue Donors ; Transplants

Objective: The purpose of this study was to verify the validity and reliability of Korean elderly by translating the Hayling Test, a test that measures semantic inhibition ability among executive functions. Methods: Total 91 participants were recruited in accordance with inclusion criteria and exclusion criteria for each group. Within them, 34 were normal from Dongjak-gu, Seoul, 29 were mild cognitive impairment (MCI) from clinics located in Seoul, and 28were Alzheimer’s disease (AD) from clinics located in Seoul, respectively. The one-way analysis of covariance, the Bonferroni veri-fication, the receiver operating characteristic (ROC) curve analysis, and the Brain Imaging analysis of voxel-based morphometrywere conducted in order to compare and analyze performance of demographics characteristics of each group, Hayling Test results, and The Continuous Performance Test-X (CPTX) results. Results: The comparison analysis showed the Hayling Test is more valid methodology than the CPTX test in discriminating nor-mal, MCI, and AD. Furthermore, ROC curves between normal and AD groups also demonstrated higher sensitivity (88%) and specificity (73%) of Hayling Test, and confirmed its diagnostic validity. In line with the above, brain imaging analysis displays sig-nificant positive correlation between temporal & frontal brain regions through the Hayling Test scores, however, this correlationwas not found for CPTX. Conclusion It is expected that the Haling Test, which measures language inhibition function, can be used simply and usefully in diagnosing dementia.

BACKGROUND: We are continually exposed to low-dose radiation (LDR) in the range 0.1 Gy from natural sources, medical devices, nuclear energy plants, and other industrial sources of ionizing radiation. There are three models for the biological mechanism of LDR: the linear no-threshold model, the hormetic model, and the threshold model. OBJECTIVE: We used keratinocytes as a model system to investigate the molecular genetic effects of LDR on epidermal cell differentiation. METHODS: To identify keratinocyte differentiation, we performed western blots using a specific antibody for involucrin, which is a precursor protein of the keratinocyte cornified envelope and a marker for keratinocyte terminal differentiation. We also performed quantitative polymerase chain reaction. We examined whether LDR induces changes in involucrin messenger RNA (mRNA) and protein levels in calcium-induced keratinocyte differentiation. RESULTS: Exposure of HaCaT cells to LDR (0.1 Gy) induced p21 expression. p21 is a key regulator that induces growth arrest and represses stemness, which accelerates keratinocyte differentiation. We correlated involucrin expression with keratinocyte differentiation, and examined the effects of LDR on involucrin levels and keratinocyte development. LDR significantly increased involucrin mRNA and protein levels during calcium-induced keratinocyte differentiation. CONCLUSION: These studies provide new evidence for the biological role of LDR, and identify the potential to utilize LDR to regulate or induce keratinocyte differentiation.
Blotting, Western ; Cell Differentiation ; Keratinocytes* ; Molecular Biology ; Nuclear Energy ; Polymerase Chain Reaction ; Radiation, Ionizing ; RNA, Messenger

PURPOSE: Immune thrombocytopenic purpura (ITP) is divided into acute and chronic forms. Unfortunately, there have been no known specific laboratory or clinical predictors for the diagnosis of chronic ITP. This study was performed to elucidate the prognostic significance of various clinical and laboratory parameters, including reticulated platelet percentage. METHODS: We retrospectively analyzed 60 patients who were diagnosed as ITP at the Department of Pediatrics, Wonju Christian Hospital from January, 1989 to January, 2001. Various kind of clinical parameters such as age, sex, symptom duration, prior URI history, response to treatment, and laboratory parameters like platelet count at initial presentation, lowest platelet count, duration of thrombocytopenia, initial reticulated platelet percentage, antiplatelet antibody IgG and IgM, antinuclear antibody (ANA), direct and indirect Coombs' test were compared between acute and chronic ITP. RESULTS: Fifteen % of patients (9/60) was chronic ITP. The peak age incidence was from 1 to 3 year of age in both acute (29.4%) and chronic ITP (22.2%). The acute ITP was prevalent in spring season, May and June. There was no difference in the incidence of prior URI history between acute and chronic ITP. Higher proportion of chronic ITP patients (5/9; 55.5%) than acute ITP patients (7/51; 13%) had symptom duration longer than 1 month (P <0.05). Increased initial reticulated platelet percentage (more than 8%) was noted in 55.3% (21/38) of acute ITP and in 40% (2/5) of chronic ITP. There were no significant differences in initial platelet count, lowest platelet count, antiplatelet IgM, antiplatelet IgG, ANA and Coombs' test between two groups. The response to initial treatment were excellent in acute and chronic ITP. Six cases of acute ITP relapsed within 1 month from initial presentation. Eight cases of chronic ITP relapsed, among them 5 cases relapsed after 2 months from initial presentation. CONCLUSION: We suggest that patients with > or =1 months duration of presenting symptoms and relapse after 2 months from initial presentation have the propensity of developing chronic ITP. Reticulated platelet percentage could not discriminate acute and chronic ITP. A more accurate detection method should be developed for reticulated platelets.
Antibodies, Antinuclear ; Blood Platelets* ; Coombs Test ; Diagnosis ; Gangwon-do ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Incidence ; Pediatrics ; Platelet Count ; Purpura, Thrombocytopenic, Idiopathic* ; Recurrence ; Retrospective Studies ; Seasons ; Thrombocytopenia

OBJECTIVES: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. MATERIALS AND METHODS: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in 6~10 cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. RESULTS: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was 65.3+/-6.0% (mean+/-SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was 39.7+/-6.9%. The rate of aneuploidy for sex chromosome (X and Y) was 45.9+/-5.3% and 43.2+/-5.8% for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was 2.5+/-0.5. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. CONCLUSION: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.
Amniocentesis ; Aneuploidy ; Azoospermia ; Biopsy ; Blastomeres ; Chromosomes, Human, Pair 17 ; Embryo Transfer ; Embryonic Structures ; Female ; Fertilization ; Germ Cells ; Humans ; Hypogonadism ; Infertility, Male ; Karyotype ; Klinefelter Syndrome* ; Male ; Mosaicism ; Oocytes ; Pregnancy ; Preimplantation Diagnosis* ; Prostaglandins D ; Sex Chromosomes ; Sperm Injections, Intracytoplasmic ; Spermatozoa

The authors describe a case of choriocarcinoma that metastasized to the cerebral cortex, vertebral body, and intramedullary spinal cord. A 21-year-old woman presented with sudden headache, vomiting and a visual field defect. Brain computed tomography and magnetic resonance examinations revealed an intracranial hemorrhage in the left temporo-parietal lobe and two enhancing nodules in the left temporal and right frontal lobe. After several days, the size of the hemorrhage increased, and a new hemorrhage was identified in the right frontal lobe. The hematoma and enhancing mass in the left temporo-parietal lobe were surgically removed. Choriocarcinoma was diagnosed after histological examination. At 6 days after the operation, her consciousness had worsened and she was in a state of stupor. The size of the hematoma in the right frontal lobe was enlarged. We performed an emergency operation to remove the hematoma and enhancing mass. Her mental status recovered slowly. Two months thereafter, she complained of paraplegia with sensory loss below the nipples. Whole spine magnetic resonance imaging revealed a well-enhancing mass in the thoracic intramedullary spinal cord and L2 vertebral body. Despite chemotherapy and radiotherapy, the patient died 13 months after the diagnosis.
Brain ; Cerebral Cortex ; Choriocarcinoma ; Consciousness ; Emergencies ; Female ; Frontal Lobe ; Headache ; Hematoma ; Hemorrhage ; Humans ; Intracranial Hemorrhages ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Neoplasm Metastasis ; Nipples ; Paraplegia ; Pregnancy ; Spinal Cord ; Spine ; Stupor ; Visual Fields ; Vomiting ; Young Adult