1.Screening of enteric pathogens by the vitek enteric pathogen screencard.
Korean Journal of Clinical Pathology 1992;12(2):233-237
No abstract available.
Mass Screening*
2.Screening of enteric pathogens by the vitek enteric pathogen screencard.
Korean Journal of Clinical Pathology 1992;12(2):233-237
No abstract available.
Mass Screening*
3.A case of intracytoplasmic inclusions in B cell chnonic lymphocyticleukemia.
Eul Ju SEO ; Hyun Sook CHI ; Myung Ju AHN
Korean Journal of Clinical Pathology 1991;11(3):589-593
No abstract available.
4.Clinical implication and detection of anti-neutrophil cytoplasmicantibody: comparison of fluorescent microscopy with flow cytometry.
Eul Ju SEO ; Dae Won KIM ; Jung Sik PARK ; Sung Kwon KIM
Korean Journal of Clinical Pathology 1992;12(3):367-394
No abstract available.
Flow Cytometry*
;
Microscopy*
5.Clinical implication and detection of anti-neutrophil cytoplasmicantibody: comparison of fluorescent microscopy with flow cytometry.
Eul Ju SEO ; Dae Won KIM ; Jung Sik PARK ; Sung Kwon KIM
Korean Journal of Clinical Pathology 1992;12(3):367-394
No abstract available.
Flow Cytometry*
;
Microscopy*
6.A Case of Ring Chromosome 21 with Multiple Congenital Anomalies.
Journal of the Korean Pediatric Society 2003;46(3):291-294
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.
Arm
;
Brain
;
Child, Preschool
;
Cleft Lip
;
Ear
;
Foot
;
Humans
;
Hypertelorism
;
Karyotype
;
Korea
;
Magnetic Resonance Imaging
;
Male
;
Microcephaly
;
Optic Nerve
;
Palate
;
Phenotype
;
Ring Chromosomes*
;
Scoliosis
7.The characteristics of current blood components and blood donations at asan medical center.
Moon Ho LEE ; Eul Ju SEO ; Dae Won KIM ; Byung Yoon BAIK ; Young Chul OH ; Ki Hong KIM
Korean Journal of Blood Transfusion 1993;4(1):1-6
No abstract available.
Blood Donors*
;
Chungcheongnam-do*
;
Humans
8.Clinical Applications of Chromosomal Microarray Analysis.
Journal of Genetic Medicine 2010;7(2):111-118
Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.
Child
;
Autism Spectrum Disorder
;
Chromosome Aberrations
;
Coat Protein Complex I
;
Consensus
;
Cytogenetics
;
Diagnostic Tests, Routine
;
Genetic Counseling
;
Genomic Structural Variation
;
Humans
;
Microarray Analysis
;
Mosaicism
;
Prenatal Diagnosis
;
Statistics as Topic
10.A familial case report of paroxysmal kinesigenic dyskinesia in three brothers.
Oh Dae KWON ; Sung Jin HWANG ; Jun Hwa LEE ; Ji Eun KIM ; Kyung Jib KIM ; Eul Ju SEO
Korean Journal of Pediatrics 2007;50(7):694-697
Paroxysmal kinesigenic dyskinesia (PKD), previously referred to as movement-provoked seizures, is a rare neurological condition that is characterized by short duration dystonic or choreoathetotic movements precipitated by sudden movement, a change in position or hyperventilation. It can be difficult to distinguish this syndrome from seizures. We reported on three brothers in one family all of whom developed abnormal involuntary dystonic or choreoathetotic movement with a tingling or stiffness sensory aura. Evaluations of the patients included general physical examinations, endoclinologic, metabolic studies, chromosomal analysis, video electroencephalograms and brain MRI imaging. All of these studies were normal except for an arachnoid cyst found in one patient. All symptoms showed excellent response to oxcarbamazepine (Trileptal(R)) or carbamazepine. Use of the video electroencephalogram can help differentiate familial PKD from seizures.
Arachnoid
;
Brain
;
Carbamazepine
;
Dyskinesias*
;
Electroencephalography
;
Epilepsy
;
Humans
;
Hyperventilation
;
Magnetic Resonance Imaging
;
Physical Examination
;
Seizures
;
Siblings*