No abstract available.
Epidemiologic Studies* ; Female ; Humans

No abstract available.
Reference Values*

Multilocular cyst of the kidney is a rare pathologic entity, noninherited benign renal neoplasm occurring in the both children and adults. The entities commonly were known as multilocular cyst of the kidney or multilocular cystic nephroma. The controversy over the pathogenesis of multilocular cyst-neoplasm versus developmental anomaly- is still unsettled. We report two cases of multilocular renal cyst, one in a 8-year-old child with a chief complaint of gross hematuria and another in a 44-year-old woman with epigastric discomfortness. They were preoperatively suspected multilocular cyst by ultrasonography and computed tomography. We performed a simple nephrectomy as the treatment of choice because of the difficulty in accurate diagnosis and the documented association with renal neoplasia.
Adult ; Child ; Diagnosis ; Female ; Hematuria ; Humans ; Kidney ; Kidney Neoplasms ; Nephrectomy ; Ultrasonography

We analyzed the mRNA expression patterns of major potassium channel genes to determine the mechanism of hypokalemia in familial hypokalemic periodic paralysis. We used quantitative RT-PCR to examine the mRNA levels of both inward (KCNJ2, KCNJ6, and KCNJ14) and delayed rectifi er (KCNQ1 and KCNA2) potassium channel genes in skeletal muscle cells from both normal and patient groups, prior to and after exposure to 4 mM and 50 mM potassium buffers. Quantitative RT-PCR analysis revealed no changes in the mRNA levels of these genes in normal and patient cells on exposure to 4 mM potassium buffer. However, after exposure to 50 mM potassium buffer, which was used to induce depolarization, normal cells showed a signifi cant decrease in KCNJ2, KCNJ6, and KCNJ14 expression, but no change in KCNQ1 and KCNA2 expression. In contrast, patient cells showed no change in KCNJ2 and KCNJ6 expression, but an increase in KCNJ14 expression. Furthermore, KCNQ1 and KCNA2 showed decreased expression. We found that the expression levels of both inward and delayed rectifi er potassium channel genes in patient cells differ from those in normal cells. Altered potassium channel gene expression in patient cells may suggest a possible mechanism for hypokalemia in familial hypokalemic periodic paralysis.

PURPOSE: Chromosomal abnormality is the major cause of male infertility. We evaluated the usefulness of chromosome analysis for searching the etiology of male infertility. MATERIALS AND METHODS: Karyotypes of 375 cases with male infertility except postvasectomy infertility were analyzed. The comparison between sexchromosomal abnormality and autosomal abnormality in various clinical parameters, serum hormonal levels and sperm density was done. RESULTS: Of 375 cases, 57 cases(15.2%) of chromosomal abnormalities were found, consisting of 42 cases(73.7%) of sex chromosomal abnormality(38 Klinefelter's syndrome with mosaicism, 1 sex reverse syndrome, 1 true hermaphroditism, 1 Y chromosome deletion, and 1 sex-chromosome translocation with autosome), 13 cases(22.8%) of autosomal abnormality(7 translocation and 6 inversion) and 2 cases(3.5%) of normal variant. Of various clinical parameters and serum hormonal levels, only testicular volume and serum testosterone level revealed significant statistical difference between sex chromosomal and autosomal abnormality. CONCLUSIONS: We suggest that the chromosomal analysis should be the first line aid in searching etiology of the male infertility.
Chromosome Aberrations* ; Humans ; Infertility ; Infertility, Male* ; Karyotype ; Klinefelter Syndrome ; Male ; Male* ; Mosaicism ; Ovotesticular Disorders of Sex Development ; Spermatozoa ; Testosterone ; Y Chromosome

The management of asthma focuses on the reduction of airway inflammation accompany with symptomatic care after recognition. Glucocorticosteroid is the most important drug to reduce airway inflammation, and it has been used inhaled, orally and systemically. New knowledge about the pathogenesis of allergy and asthma has made the development and clinical trial of target or immunomodulator therapy. It includes cytokine, cytokine blockers, specific cytokine receptor blocker, and immunostimulatory oligodeoxynucleotides. These agents are thought to hold the promise for more beneficial outcomes in the future, although it showed limited therapeutic benefits only for patients, especially intractable or severe asthma, until now.
Asthma ; Humans ; Hypersensitivity ; Immunomodulation ; Inflammation ; Oligodeoxyribonucleotides ; Receptors, Cytokine

PURPOSE: Monocyte chemoattractant proteins (MCPs) are important cytokines that involved in cellular activation and releasing of inflammatoy mediators by basophils and eosinophils in allergic disease. Some MCP gene variants implicate in asthma and monoclonal antibody for MCP-3 blocks allergic inflammations in the patients with asthma. Detection of interactions between gene and environment or between genes for complex disease such as asthma is important. We searched for an evidence of genetic effect of single nucleotide polymorphisms (SNPs) of MCP genes as well as gene - gene interactions involved in asthma. METHODS: Four hundreds asthmatics and four hundreds normal controls were enrolled. Asthma was defined as a positive bronchodilator response or positive methacholine provocation test with compatible clinical symptoms. Seven MCP gene SNPs (2 SNPs in MCP-1, 1 in MCP-2, and 4 in MCP-3) were included. Association analyses between SNP and asthma, and the tests for gene - gene interaction were performed. RESULTS: Strong linkage disequilibria were found among 7 MCP gene polymorphisms. There was no SNP that showed a significant association with asthma among 7 SNPs of 3 MCP genes. No haplotype was associated with asthma, either. The combination of MCP1-2518G>A, MCP2+46A>C, and MCP3+563C>T was the best predictive model for asthma as compared to the control in tests for gene - gene interaction. The MCP1-2518G>A and MCP2+46A>C was the second best predictive combination and this had the highest synergistic interaction effect on the subject's status than any other combination of polymorphisms. Complete linkages were not associated with the gene - gene interactions models. CONCLUSIONS: MCP gene polymorphisms probably interact with each other; thus, these findings may help in developing a possible genetic marker to predict asthma.
Asthma* ; Basophils ; Cytokines ; Eosinophils ; Genetic Markers ; Haplotypes ; Humans ; Inflammation ; Methacholine Chloride ; Monocyte Chemoattractant Proteins ; Polymorphism, Single Nucleotide

PURPOSE: Monocyte chemoattractant proteins (MCPs) are important cytokines that involved in cellular activation and releasing of inflammatoy mediators by basophils and eosinophils in allergic disease. Some MCP gene variants implicate in asthma and monoclonal antibody for MCP-3 blocks allergic inflammations in the patients with asthma. Detection of interactions between gene and environment or between genes for complex disease such as asthma is important. We searched for an evidence of genetic effect of single nucleotide polymorphisms (SNPs) of MCP genes as well as gene - gene interactions involved in asthma. METHODS: Four hundreds asthmatics and four hundreds normal controls were enrolled. Asthma was defined as a positive bronchodilator response or positive methacholine provocation test with compatible clinical symptoms. Seven MCP gene SNPs (2 SNPs in MCP-1, 1 in MCP-2, and 4 in MCP-3) were included. Association analyses between SNP and asthma, and the tests for gene - gene interaction were performed. RESULTS: Strong linkage disequilibria were found among 7 MCP gene polymorphisms. There was no SNP that showed a significant association with asthma among 7 SNPs of 3 MCP genes. No haplotype was associated with asthma, either. The combination of MCP1-2518G>A, MCP2+46A>C, and MCP3+563C>T was the best predictive model for asthma as compared to the control in tests for gene - gene interaction. The MCP1-2518G>A and MCP2+46A>C was the second best predictive combination and this had the highest synergistic interaction effect on the subject's status than any other combination of polymorphisms. Complete linkages were not associated with the gene - gene interactions models. CONCLUSIONS: MCP gene polymorphisms probably interact with each other; thus, these findings may help in developing a possible genetic marker to predict asthma.
Asthma* ; Basophils ; Cytokines ; Eosinophils ; Genetic Markers ; Haplotypes ; Humans ; Inflammation ; Methacholine Chloride ; Monocyte Chemoattractant Proteins ; Polymorphism, Single Nucleotide

Alternative splicing (AS) is an important mechanism of producing transcriptome diversity and microarray techniques are being used increasingly to monitor the splice variants. There exist three types of microarrays interrogating AS events-junction, exon, and tiling arrays. Junction probes have the advantage of monitoring the splice site directly. Johnson et al., performed a genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays (Science 302:2141-2144, 2003), which monitored splicing at every known exon-exon junctions for more than 10,000 multi-exon human genes in 52 tissues and cell lines. Here, we describe an algorithm to deduce the relative concentration of isoforms from the junction array data. Non-negative Matrix Factorization (NMF) is applied to obtain the transcript structure inferred from the expression data. Then we choose the transcript models consistent with the ECgene model of alternative splicing which is based on mRNA and EST alignment. The probe-transcript matrix is constructed using the NMF-consistent ECgene transcripts, and the isoform abundance is deduced from the non-negative least squares (NNLS) fitting of experimental data. Our method can be easily extended to other types of microarrays with exon or junction probes.
Alternative Splicing ; Cell Line ; Exons* ; Humans ; Least-Squares Analysis ; Protein Isoforms ; RNA Precursors ; RNA, Messenger ; Transcriptome

Untill now, dermofat graft has usually been used for repair or supplement of soft tissue for cosmetic cause. Generally, scar in the center portion of neck, left after tracheostomy, may cause skin traction and discomfort during swallowing due to adhesion in trachea or cricoid cartilage in high rates. In these cases, usual scar revision techniques maybe cannot correct the skin retraction and swallowing discomfort. We, therefore, solved the problems of skin traction and discomfort during swallowing, by first removing the preexisting scar in the center portion of neck, then, dissecting the surroundings after performing autodermofat graft. From September 2002 to September 2003, we performed autodermofat graft in 6 cases having skin traction and discomfort during swallowing. In all cases, symptoms were resolved, and adverse effects of infection, hematoma and calcifications did not occur. In the results of 10 months follow-up, there were no recurrence and cosmetic and functional results were acceptable.
Cicatrix* ; Cricoid Cartilage ; Deglutition ; Follow-Up Studies ; Hematoma ; Neck* ; Recurrence ; Skin ; Trachea ; Tracheostomy ; Traction ; Transplants*