In the abstract, case description and figure 2, the nomenclature of two mutations was misprinted because of misreading the cDNA nucleotide sequences.

The antinuclear antbody (ANA) test have been used to screen the patients with systemic lupus erythematosus (SLE) and other autoimmune diseases. We had retrospectively reviewed the 263 records of pediatric patients with doing ANA tests who admitted at Department of Pediatrics, Kyung Hee University Hospital, from January 1988 to May 1993. The following results were obtained. 1) The positive rate of ANA test in patients with connective tissue diseases is 16 out of 40(40%).In patients with SLE, the positive rate of ANA test is 9 out of 11 (82%). 2) The positive predictivity for SLE is 9 out 36 (25%). 3) The positive predictivity for connective tissue disease and possible immune disease is 28 out of 36 (78%). 4) The false positive rate is 8 0ut of 36 (22%), Thus, the pediatric patients with positive ANA test should be applicable for diagnosis with prudence. 5) The positive anti-dsDNA in patients with the positive ANA is shown in 4 cases and these patients are all SLE. In conclusion, the patients who had repeated positive ANA should be tested Anti-dsDNA antibody, and further clinical and diagnostic evaluation of other ANA associated diseases.
Autoimmune Diseases ; Connective Tissue Diseases ; Diagnosis ; Humans ; Immune System Diseases ; Lupus Erythematosus, Systemic ; Pediatrics ; Retrospective Studies

Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparathyroidism. The girl and her father were both heterozygous for the 719 C-to-T (I146T) mutation in exon 4, whereas she and her mother were both heterozygous for 754 C-to-T (R154C) mutation in exon 5 of the VDR gene. In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR. This is the first report of a unique mutation in the VDR gene in Korea.
Asian Continental Ancestry Group/*genetics ; Base Sequence ; Bone and Bones/abnormalities/radiography ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Hypophosphatemic Rickets, X-Linked Dominant/*genetics/radiography ; Point Mutation ; Receptors, Calcitriol/*genetics ; Republic of Korea

PURPOSE: Transforming growth factor beta receptor 2 (TGFBR2) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the TGFBR2 gene SNPs are related to the pathogenesis of Kawasaki disease (KD) and coronary artery lesion (CAL). METHODS: The subjects were 105 patients with KD and 500 healthy adults as controls. Mean age of KD group was 32 months age and 26.6% of those had CAL. We selected TGFBR2 gene SNPs from serum and performed direct sequencing. RESULTS: The sequences of the eleven SNPs in the TGFBR2 gene were compared between the KD group and controls. Three SNPs (rs1495592, rs6550004, rs795430) were associated with development of KD (P=0.019, P=0.026, P=0.016, respectively). One SNP (rs1495592) was associated with CAL in KD group (P=0.022). CONCLUSION: Eleven SNPs in TGFBR2 gene were identified at that time the genome wide association. But, with the change of the data base, only six SNPs remained associated with the TGFBR2 gene. One of the six SNPs (rs6550004) was associated with development of KD. One SNP associated with CAL (rs1495592) was disassociated from the TGFBR2 gene. The other five SNPs were not functionally identified, but these SNPs are notable because the data base is changing. Further studies involving larger group of patients with KD are needed.
Adult ; Coronary Artery Disease ; Coronary Vessels ; Death, Sudden ; Genes, Tumor Suppressor ; Genome ; Humans ; Marfan Syndrome ; Mucocutaneous Lymph Node Syndrome ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases ; Receptors, Transforming Growth Factor beta ; Transforming Growth Factor beta ; Transforming Growth Factors

The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS. A total of 50 subjects, including 29 ISS patients and 21 healthy controls with their heights within the normal range was recruited. We selected two single nucleotide polymorphisms (SNPs) from VDR promoter (rs11568820 at the Cdx-2 binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) as candidates, respectively. In genotype analysis, the frequency of A/A genotype at the Cdx-2 binding site locus (rs11568820) upstream of exon 1e of VDR was decreased to 6.9% in ISS patients (28.6% in controls) (P = 0.027). The genetic variation at the Cdx-2 binding site of VDR promoter can be a contributing factor of growth of height.
Adolescent ; Alleles ; Binding Sites ; Child ; Dwarfism/*genetics ; Exons ; Female ; Gene Frequency ; Genotype ; Homeodomain Proteins/metabolism ; Humans ; Male ; *Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Receptors, Calcitriol/*genetics

BACKGROUND/AIMS: To compare efficacy and tolerability of rabeprazole (RAB) 10 mg versus omeprazole (OME) 20 mg in patients with duodenal ulcer. METHODS: This randomized, comparative, multicenter study was conducted at 10 centers in Korea, from February to September in 1999. Patients with active duodenal ulcer as proven by endoscopy were randomized to RAB (n=123) or OME (n=123) groups. One hundred-twenty-three patients received RAB 10 mg once daily, and 123 patients received OME 20 mg once daily for 2 or 4 weeks. Primary efficacy parameter was complete healing by endoscopy and secondary parameter was the improvement in the severity of clinical symptoms after the therapy. RESULTS: After 2 weeks, complete healing was achieved in 81.7% (85/104) of patients given RAB 10mg and in 81.1% (77/95) of patients given OME 20 mg (p=0.902). After 4 weeks, complete healing was documented in 97.1% (101/104) of patients given RAB 10 mg and in 93.7% (89/95) of patients given OME 20 mg (p=0.315). The percentages of patients resolved daytime pain and night-time pain at Day 4 were 87.5% and 90.1% in RAB group and 79.0% and 80.5% in OME group (p=0.138 and p=0.087 for day-time k night-time pain, respectively). No clinically meaningful changes or other between-group differences were observed in laboratory parameters and adverse events which were evaluated to be related with medication. CONCLUSIONS: In this study, rabeprazole 10 mg produced healing rates and symptom relief equivalent to omeprazole 20 mg at weeks 2 and 4 in patients with active duodenal ulcer and provided a tendency of faster symptom relief than omeprazole 20 mg, although it didn't reach statistical significance. Both the treatments were well tolerated.
Duodenal Ulcer* ; Endoscopy ; Humans ; Korea ; Omeprazole* ; Rabeprazole*

BACKGROUND: This study compared the bronchodilator efficacy and safety of tiotropium inhalation capsules (18microgram once daily) with a ipratropium metered dose inhaler (2 puffs of 20microgram q.i.d.) in patients with chronic obstructive pulmonary disease (COPD). METHOD: After the initial screening assessment and a two-week run-in period, patients received either tiotropium 18microgram once daily or ipratropium 40microgram four times daily over a period of 4 weeks in a double blind, double dummy, parallel group study. The outcome measures were the lung function, the daily records of the peak expiratory flow rate (PEFR), the patients' questionnaire, and the use of concomitant salbutamol. The forced expiratory volume in one second (FEV1) and the forced vital capacity (FVC) were measured 5 minutes before inhalation, and 0.5, 1, 2 and 3 hours after inhaling the study drug on days 0, 14 and 28. RESULT: In 16 centers, 134 patients with a mean (SD) age of 66 (7) years and a predicted FEV1 of 42 (12)% were analyzed. The trough FEV1 response was significantly higher in the tiotropium group than in the ipratropium group after a four-week treatment period. The weekly mean morning PEFR of the tiotropium group was consistently higher than that of the ipratropium group during the 4-week treatment period with differences ranging from 12.52 to 13.88 l/min, which were statistically significant. Tiotropium was well tolerated by the COPD patients during the 4-week treatment period and had a similar safety profile to ipratropium. CONCLUSION: This study shows that tiotropium administrated once daily has a superior bronchodilator effect with a similar safety profile in treating COPD patients compared with ipratropium, inhaled four times daily.
Adult* ; Albuterol ; Bronchodilator Agents ; Capsules ; Forced Expiratory Volume ; Humans ; Inhalation ; Ipratropium* ; Lung ; Mass Screening ; Metered Dose Inhalers ; Outcome Assessment (Health Care) ; Peak Expiratory Flow Rate ; Pulmonary Disease, Chronic Obstructive* ; Surveys and Questionnaires ; Vital Capacity ; Tiotropium Bromide