We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism, epicanthal folds, microophthalmia, broad prominamt nasal bridge, high arched palate, micrognathia, large auricles and other anomalies. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46, XX, r13. Her parents' karyotypes were normal. We reported the case with the review of the associated literatures.
Child, Preschool ; Craniosynostoses ; Cytogenetics ; Female ; Hearing ; Humans ; Hypertelorism ; Karyotype ; Lymphocytes ; Microcephaly ; Palate ; Ring Chromosomes*

PURPOSE: The purpose of this study was to describe the clinical characteristics of neonatal urinary tract infection (UTI) caused by Klebsiella pneumoniae and non- Klebsiella pneumoniae UTI. METHODS: We compared clinical characteristics of 84 neonatal patients with UTI caused by Klebsiella pneumoniae who were hospitalized at the Department of Pediatricsat Han Dong University, Sunlin Hospital during the period between May, 1994 and August, 1998. The cases were divided into two groups depending upon causative organisms' Klebsiella pneumoniae UTI vs non-Klebsiella pneumoniae UTI, and the clinical characteristics of these groups were compared. RESULTS: Escherichia coli was the most common bacterial pathogen causing neonatal UTI, followed by Klebsiella pneumoniae. There was no significant difference in the sex distribution of Klebsiella pneumoniae UTI, but non-Klebsiella pneumoniae UTI showed male predominence. There were no significant differences in the incidences of hematologic, urologic, radiologic findings and perinatal complications in between these 2 groups. CONCLUSION: Klebsiella pneumoniae is the second most common pathogen causing neonatal UTI. There were no specific differences in the laboratory, symptomatologic, and radiologic findings in these two groups.
Escherichia coli ; Humans ; Incidence ; Klebsiella pneumoniae* ; Klebsiella* ; Male ; Pneumonia ; Sex Distribution ; Urinary Tract Infections* ; Urinary Tract*

In systemic rheumatic disease, marker antibodies such as anti-Sm, anti Scl-70 and anti Jo-1 are helpful in the diagnosis of disease, but in rheumatoid arthritis, the diagnosis is difficult due to the low sensitivity and specificity of the rheumatoid factor(RF). So, a new maker antibody with high sensitivity and specificity was needed. Recently, the antiperi- nuclear factor(APF) has gained particular attention. The results of the APF and RF test in 165 patients with rheumatoid arthritis, 77 patients with osteoarthritis, and 109 normal healthy persons, which were taken between January, 1994 through December 1994 were as follows; 1. The sensitivity, specificity, and predictive value of positivity of the RF test in patients with rheumatoid arthritis were 58.2%, 93.5%, and 95.0%, and that of the APF test were 72.1%, 94.6% and 92.2%, respectively. 2. The sensitivity, specificity and predictive value of positivity when combining the APF with the RF were 83.0%, 85.7%, and 92.6%, respectively. 3. The disease status of the patients correlated with intensity of the APF test, that is, the more severe the disease status, the higher intensity. In conclusion, the APF was useful in the diagnosis of rheumatoid arthritis, and may be used as an indicator of disease status. When combining test the APF with RF, the incidence of sero-negative rheumatoid arthritis decreased.
Antibodies ; Arthritis, Rheumatoid ; Diagnosis ; Humans ; Incidence ; Osteoarthritis ; Rheumatic Diseases ; Sensitivity and Specificity

PURPOSE: This study was performed to evaluate clinical manifestations and findings of ultrasonogram of neonatal septic arthritis and osteomyelitis. We tried to determine the value of ultrasonogram as a tool for early diagnosis of septic arthritis and osteomyelitis. METHODS: We reviewed the records of 17 patients, who were diagnosed septic arthritis and/or osteomyelitis in Departments of Pediatrics and Orthopedic Surgery, Han dong University Sunlin Hospital in Pohang between Jan. 1994 and Sep. 1998. Radiologic findings were reviewed retrospectively according to the duration of symptoms at the onset. We compared the sensitivity of ultrasonogram with other radiologic tools done within 7 days of illness. RESULTS: We compared sensitivity of each imaging study done within 7 days of illness. 20%(3/5) had abnormality in plain radiographs, 78.6%(11/14) in ultrasonogram, 28.6%(2/7) in bone scan, and 100,0%(3/3) in MRI. Deep soft-tissue swelling around the bone was the earliest sign of acute osteomyelitis in ultrasonogram. Concurrently early septic arthritis showed deep soft tissue swelling around the joint and increased synovial effusion in ultrasonogram. CONCLUSION: Ultrasonogram is not so expensive, non-invasive, not harmful to patients, and there is no need to sedate patients for examination. Comparing with other imaging studies, the sensitivity of ultrasonogram is relatively high. Ultrasonogram is a useful diagnostic tool of septic arthritis and osteomyelitis in newbom infants.
Arthritis, Infectious* ; Early Diagnosis ; Gyeongsangbuk-do ; Humans ; Infant ; Joints ; Magnetic Resonance Imaging ; Orthopedics ; Osteomyelitis* ; Pediatrics ; Retrospective Studies ; Ultrasonography

No abstract available.
Osteoarthropathy, Primary Hypertrophic*

No abstract available.
Respiratory Distress Syndrome, Newborn*

Background: Genetically immunodeficient mice lacking Il2rg and Rag2 genes have been widely utilized in the field of biomedical research. However, immunodeficient rats, which offer the advantage of larger size, have not been as extensively used to date. Recently, Severe Combined Immunodeficiency (SCID) rats were generated using CRISPR/ Cas9 system, targeting Il2rg and Rag2 in National BioResource Project in Japan. We imported and investigated more detailed phenotypes of wild-type (WT) Il2rg knockout (KO), Rag2 KO and Il2rg/Rag2 KO rats for 20 weeks. Results: During experiments, Il2rg KO, Rag2 KO and Il2rg/Rag2 KO rats showed decreased white blood cells and sys‑ temic lymphopenia, with reduced CD4+, CD8+ T cells and CD161+ NK cells. Additionally, all KO strains exhibited reduced relative spleen weights, hypoplasia of the germinal center in the white pulp, and atrophy with the disap‑ pearance of the boundary between the cortex and medulla in the thymus, compared to WT rats. Furthermore, we established human acute lymphoblastic leukemia xenograft rat model by intravenously injecting 5.0 × ­106 cells/kg of NALM6 cells into Il2rg/Rag2 KO rats. Conclusions These findings indicate that Il2rg KO, Rag2 KO, and Il2rg/Rag2 KO rats exhibited SCID phenotypes, sug‑ gesting their potential application as immunodeficient animal models for tumor xenograft studies.

Background: Genetically immunodeficient mice lacking Il2rg and Rag2 genes have been widely utilized in the field of biomedical research. However, immunodeficient rats, which offer the advantage of larger size, have not been as extensively used to date. Recently, Severe Combined Immunodeficiency (SCID) rats were generated using CRISPR/ Cas9 system, targeting Il2rg and Rag2 in National BioResource Project in Japan. We imported and investigated more detailed phenotypes of wild-type (WT) Il2rg knockout (KO), Rag2 KO and Il2rg/Rag2 KO rats for 20 weeks. Results: During experiments, Il2rg KO, Rag2 KO and Il2rg/Rag2 KO rats showed decreased white blood cells and sys‑ temic lymphopenia, with reduced CD4+, CD8+ T cells and CD161+ NK cells. Additionally, all KO strains exhibited reduced relative spleen weights, hypoplasia of the germinal center in the white pulp, and atrophy with the disap‑ pearance of the boundary between the cortex and medulla in the thymus, compared to WT rats. Furthermore, we established human acute lymphoblastic leukemia xenograft rat model by intravenously injecting 5.0 × ­106 cells/kg of NALM6 cells into Il2rg/Rag2 KO rats. Conclusions These findings indicate that Il2rg KO, Rag2 KO, and Il2rg/Rag2 KO rats exhibited SCID phenotypes, sug‑ gesting their potential application as immunodeficient animal models for tumor xenograft studies.

Background: Genetically immunodeficient mice lacking Il2rg and Rag2 genes have been widely utilized in the field of biomedical research. However, immunodeficient rats, which offer the advantage of larger size, have not been as extensively used to date. Recently, Severe Combined Immunodeficiency (SCID) rats were generated using CRISPR/ Cas9 system, targeting Il2rg and Rag2 in National BioResource Project in Japan. We imported and investigated more detailed phenotypes of wild-type (WT) Il2rg knockout (KO), Rag2 KO and Il2rg/Rag2 KO rats for 20 weeks. Results: During experiments, Il2rg KO, Rag2 KO and Il2rg/Rag2 KO rats showed decreased white blood cells and sys‑ temic lymphopenia, with reduced CD4+, CD8+ T cells and CD161+ NK cells. Additionally, all KO strains exhibited reduced relative spleen weights, hypoplasia of the germinal center in the white pulp, and atrophy with the disap‑ pearance of the boundary between the cortex and medulla in the thymus, compared to WT rats. Furthermore, we established human acute lymphoblastic leukemia xenograft rat model by intravenously injecting 5.0 × ­106 cells/kg of NALM6 cells into Il2rg/Rag2 KO rats. Conclusions These findings indicate that Il2rg KO, Rag2 KO, and Il2rg/Rag2 KO rats exhibited SCID phenotypes, sug‑ gesting their potential application as immunodeficient animal models for tumor xenograft studies.

Background: Genetically immunodeficient mice lacking Il2rg and Rag2 genes have been widely utilized in the field of biomedical research. However, immunodeficient rats, which offer the advantage of larger size, have not been as extensively used to date. Recently, Severe Combined Immunodeficiency (SCID) rats were generated using CRISPR/ Cas9 system, targeting Il2rg and Rag2 in National BioResource Project in Japan. We imported and investigated more detailed phenotypes of wild-type (WT) Il2rg knockout (KO), Rag2 KO and Il2rg/Rag2 KO rats for 20 weeks. Results: During experiments, Il2rg KO, Rag2 KO and Il2rg/Rag2 KO rats showed decreased white blood cells and sys‑ temic lymphopenia, with reduced CD4+, CD8+ T cells and CD161+ NK cells. Additionally, all KO strains exhibited reduced relative spleen weights, hypoplasia of the germinal center in the white pulp, and atrophy with the disap‑ pearance of the boundary between the cortex and medulla in the thymus, compared to WT rats. Furthermore, we established human acute lymphoblastic leukemia xenograft rat model by intravenously injecting 5.0 × ­106 cells/kg of NALM6 cells into Il2rg/Rag2 KO rats. Conclusions These findings indicate that Il2rg KO, Rag2 KO, and Il2rg/Rag2 KO rats exhibited SCID phenotypes, sug‑ gesting their potential application as immunodeficient animal models for tumor xenograft studies.