OBJECTIVES: Previously, we sought to compile a list of genes expressed during early folliculogenesis by using cDNA microarray to investigate follicular gene expression and changes during primordialprimary follicle transition and development of secondary follicles (Yoon et al., 2005). Among those genes, a group of genes related to the cell size growth was characterized during the ovarian development in the present study. METHODS: We determined ovarian expression pattern of six genes related to the cell size growth (cyr61, emp1, fhl1, socs2, wig1 and wisp1) and extended into CCN family (connective tissue growth factor/cysteine-rich 61/nephroblastoma-overexpressed), ctgf, nov, wisp2, wisp3, including cyr61 and wisp1 genes. Expression of mRNA and protein according to the ovarian developmental stage was evaluated by in situ hybridization, and/or semiquantitative reverse transcriptase polymerase chain reaction (RT-PCR), and immunohistochemistry, respectively. RESULTS: Among 6 genes related to the cell size growth, cyr61 and wisp1 mRNA was detected only in oocytes in the postnatal day5 mouse ovaries. cyr61 mRNA expression was limited to the nucleolus of oocytes, while wisp1 was expressed in the cytoplasm and nucleolus of oocytes, except nucleus. cyr61 mRNA expression, however, was found in granulosa cells from secondary follicles. The rest 4 genes in the cell size growth group were detected in oocytes, granulosa and theca cells. Cyr61 and Wisp1 proteins were expressed in the oocyte cytoplasm from primordial follicle stage. Especially, Cyr61 protein was detected in pre-granulosa cells, Wisp1 protein was not. By using RT-PCR, we evaluated and decided that Cyr61 protein is produced by their own mRNA in pre-granulosa cells that was not detected by in situ hybridization. cyr61 and wisp1 genes are happen to be the CCN family members. The other members of CCN family were also studied, but their expression was detected in oocytes, granulose and theca cells. CONCLUSIONS: We firstly characterized the ovarian expression of genes related to the cell size growth and CCN family according to the early folliculogenesis. Cyr61 protein expression in the pre-granulosa cells is profound in meaning. Further functional analysis for cyr61 in early folliculogenesis is under investigation.
Animals ; Cell Enlargement* ; Cell Size* ; Cysteine-Rich Protein 61 ; Cytoplasm ; Female ; Gene Expression ; Genes, vif ; Granulosa Cells ; Humans ; Immunohistochemistry ; In Situ Hybridization ; Mice* ; Oligonucleotide Array Sequence Analysis ; Oocytes ; Ovary ; Reverse Transcriptase Polymerase Chain Reaction ; RNA, Messenger ; Theca Cells

Subarachnoid hemorrhage(SAH) secondary to ruptured cerebral aneurysm is a complex trait, with both genetic and environmental risk factors playing an important part. The 30-day mortality rate of patients with SAH is 40% to 44%, with survivors suffering from major disability. Despite the high incidence and catastrophic consequences of a ruptured cerebral aneurysm and the fact that there is considerable evidence that predisposition to cerebral aneurysm has a strong genetic component, very little is understood with regard to the pathology and pathogenesis of this disease. Recent advances in molecular genetics provide evidence that genetic variants of different candidate genes are associated with the occurrence of cerebral aneurysm. This article reviews the evidence supporting a genetic predisposition to SAH from cerebral aneurysm, the conditions commonly associated with cerebral aneurysm, and the search for genetic risk factors.
Genetic Predisposition to Disease ; Humans ; Incidence ; Intracranial Aneurysm* ; Molecular Biology* ; Mortality ; Pathology ; Risk Factors ; Survivors

OBJECTIVE: Recent epidermiologic studies suggested that alterations in folate metabolism as a result of polymorphism in the enzyme 5,10-methylenetetrahydrofolate reductase(MTHFR) have been frequently associated with neural tube defects, vascular disease, and some cancers. A common 677C->T polymorphism in the MTHFR gene results in thermolability and reduced MTHFR activity that decreases the pool of 5-methyltetrahydrofolate and increases the pool of 5,10-methylenetetrahydrofolate. A possible cause underlying altered DNA methylation could be an insufficient level of S-adenosylmethionine as a consequence of weaker alleles of MTHFR gene. Therefore, the weak MTHFR activity may underlie susceptibility to brain neoplasms. We now report the associations of MTHFR polymorphisms in three groups of adult brain tumors: gliomas, meningiomas and schwannomas. METHODS: We analyzed DNA of 71 brain tumors and 254 age- and sex-matched controls with a case-control study. MTHFR variant alleles were determined by a PCR-restriction fragment length polymorphism assay. RESULTS: The incidence of the MTHFR 677TT genotype was higher among 20 schwannoma cases compared with that of 254 controls, conferring a 5-fold increase of the risk of schwannomas(odds ratio, OR=4.75 ; 95% confidence index, CI=1.05-21.50). The homozygous mutant group had half the risk of meningioma(OR=0.42:95% CI = 0.11-1.58) compared with the homozygous normal or heterozygous genotypes. There was no significant difference in MTHFR 677TT genotype frequency between glioma group(19 cases) and control group(254 cases)(OR = 1.53 ; 95% CI = 0.30-7.73). CONCLUSION: The data indicate that the homozygous 677TT MTHFR genotype confers the significantly higher risk of schwannoma and the lower risk of meningioma. However, our study had limited a statistical power because of the small sample size, which is reflected in the wide CIs. Hence, these findings need to be confirmed in larger populations.
Adult ; Alleles ; Brain Neoplasms* ; Brain* ; Case-Control Studies ; DNA ; DNA Methylation ; Folic Acid ; Genotype ; Glioma ; Humans ; Incidence ; Meningioma ; Metabolism ; Methylenetetrahydrofolate Reductase (NADPH2) ; Neural Tube Defects ; Neurilemmoma ; Oxidoreductases* ; Risk Factors ; S-Adenosylmethionine ; Sample Size ; Vascular Diseases

PURPOSE: Colon carcinogenesis seems to vary according to the original location of tumor, especially theright and the left sides. Two common methylenetetrahydrofolate reductase (MTHFR) polymorphisms, 677C->T and 1298A->C, are now known. Especially, the TT type of the 677C->T mutation shows reduced catalytic activity at a rate 30% that of wild type. The aim of this study is to investigate the distributions of MTHFR polymorphisms of 677C->T and 1298A->C according to the location of the colon cancer. METHODS: Blood samples were collected from 112 patients diagnosed in our hospital, as having colon cancer: 34 proximal and 78 distal cases to the splenic flexure and 448 healthy control subjects. In order to characterize MTHFR polymorphisms, we applied the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The distributions of MTHFR 677C->T polymorphisms as genotypes CC, CT, and TT were 32.4%, 53.1%, and 14.5% in the control group, and 34.8%, 58.0%, and 7.1% in the cancer group (P=0.056). In the 34 proximal cancers, the CC, CT, and TT distributions were 44.1%, 55.9%, and 0% (P<0.05), respectively. In the distal group, they were 30.8%, 59.0%, and 10.3%. The distributions of the MTHFR 1298 A->C polymorphism by genotypes, AA, AC, CC were 69.6%, 28.6%, and 1.8% in the control group, and 58.9%, 38.4%, and 2.7% in the cancer group. The proximal and the distal groups show genotype distributions of 44.1%, 53.0%, and 2.9% and 65.4%, 32.0%, and 2.6%, respectively, but the differences were not statistically significant. CONCLUSIONS: There are no definite differences between control subjects and colon-cancer patients in the two polymorphisms 677C->T and 1298A->C. However, the TT genotype shows a lower frequency in the cancer group than in the control group with a marginal statistical value (P=0.056), which suggest a reduced risk of cancer incidence for this type, compared with a CC or a CT type.
Carcinogenesis ; Colon* ; Colon, Transverse ; Colonic Neoplasms* ; Genotype ; Humans ; Incidence ; Methylenetetrahydrofolate Reductase (NADPH2)

PURPOSE: Although breast cancer the most common cancer for women remains a significant health problem, it has not been systematically studied until now. In an attempt to identify novel genes implicated in breast cancer development, we performed a suppression subtraction hybridization (SSH) with human breast cancer tissues, as well as with cloned genes, that are expressed more than in normal tissue. METHODS: After the identification of a novel gene, RT-PCR was performed to determine its mRNA expression in human breast cancers. In order to learn more about the expression profile of this gene, PCR was performed using various commercially available normal or carcinoma cell lines. The novel gene was found to be strongly expressed in breast cancer tissues and other carcinoma cell lines. To determine whether this novel gene was associated with cell cycle regulation, normal WI-38 fibroblast cells were stimulated with media containing 0.1% FBS for 48hours. RESULT: From the experimental results of the SSH, a novel clone, "Clone 135" which was strongly expressed in tumor compared to matched normal tissue, has been found. The novel clone was identified as being expressed in several tumor tissues and carcinoma cell lines. The time-course expression of this novel gene in the WI-38 (8PDL) normal lung cell line indicated a significant increase for G1-phase arrest. CONCLUSION: We have used a suppression subtractive hybridization (SSH) to generate a profile of genes overexpressed in human breast cancer. We have screened novel genes, of which "Clone 135" scored as a candidate oncogene that was overexpressed in tumor compared to matched normal tissue.
Breast Neoplasms* ; Breast* ; Cell Cycle ; Cell Line ; Clone Cells ; Female ; Fibroblasts ; Humans* ; Lung ; Oncogenes ; Polymerase Chain Reaction ; RNA, Messenger

PURPOSE: Although breast cancer the most common cancer for women remains a significant health problem, it has not been systematically studied until now. In an attempt to identify novel genes implicated in breast cancer development, we performed a suppression subtraction hybridization (SSH) with human breast cancer tissues, as well as with cloned genes, that are expressed more than in normal tissue. METHODS: After the identification of a novel gene, RT-PCR was performed to determine its mRNA expression in human breast cancers. In order to learn more about the expression profile of this gene, PCR was performed using various commercially available normal or carcinoma cell lines. The novel gene was found to be strongly expressed in breast cancer tissues and other carcinoma cell lines. To determine whether this novel gene was associated with cell cycle regulation, normal WI-38 fibroblast cells were stimulated with media containing 0.1% FBS for 48hours. RESULT: From the experimental results of the SSH, a novel clone, "Clone 135" which was strongly expressed in tumor compared to matched normal tissue, has been found. The novel clone was identified as being expressed in several tumor tissues and carcinoma cell lines. The time-course expression of this novel gene in the WI-38 (8PDL) normal lung cell line indicated a significant increase for G1-phase arrest. CONCLUSION: We have used a suppression subtractive hybridization (SSH) to generate a profile of genes overexpressed in human breast cancer. We have screened novel genes, of which "Clone 135" scored as a candidate oncogene that was overexpressed in tumor compared to matched normal tissue.
Breast Neoplasms* ; Breast* ; Cell Cycle ; Cell Line ; Clone Cells ; Female ; Fibroblasts ; Humans* ; Lung ; Oncogenes ; Polymerase Chain Reaction ; RNA, Messenger

Purpose: This study evaluated the impact of auricular acupressure on depression among nurses. Methods: This study used a randomized control group pretest-posttest design. Shift-work nurses with the Patient Health Questionnaire-9 (PHQ-9) score over 5 points were randomized to the experimental group(n=20) or the control group(n=20). For the experimental group, auricular acupressure was conducted at the corresponding points of depression (TGI, AH1) weekly for seven days as well as for two weeks. The PHQ-9 was completed before intervention, as well as two weeks after intervention. Results: The mean difference in the PHQ-9 score before and after auricular acupressure in the experimental group (-4.11±2.27), was more significant than in the control group (-1.72±3.82) (t=2.28, p=.03). Conclusion Result showed that nurses who received auricular acupressure had a decrease in depression, compared to those who did not receive auricular acupressure. Further research is required, to apply the other auricular acupressure points, to evaluate the impact on depressive symptoms.

Signs and Symptoms consistent with the irritation of the cauda equina developed during epidural morphine therapy for the relief of pain from osteosarcoma in a 10-year-old female patient. This was considered to be due to a subarachnoid diffusion of the epidurally administrated morphine through the dural opening formed by a previous inadvertent dural puncture. The subarachnoid diffusion of the drug was confirmed by fluoroscopy following injection of the contrast media through the indwelling epidural catheter. The chemical inflammation of the cauda equina might be due to substances formed by chemical reactions with a certain preservative vehicle rather than the morphine itself. Spinal steroid therapy may be effective for the suppression of a chemical inflammatory reaction.
Catheters ; Cauda Equina ; Child ; Contrast Media ; Diffusion ; Female ; Fluoroscopy ; Humans ; Inflammation ; Morphine* ; Osteosarcoma ; Punctures*

OBJECTIVE: A variety of genetic alterations in human glioblastoma comprises signal transduction and cell cycle arrest control of cellular processes. Subtractive hybridization is potentially a faster method for identifying differentially expressed genes associated with a particular disease state. Using the technique of subtraction, we isolated novel genes that are overexpressed in glioblastoma tissue as compared to normal brain tissue. METHODS: We evaluated the differential expression of genes in each of hybridizing tester and driver cDNAs to digested 130 clones. After sequencing of 130 clones and homology search, this study performed to determine mRNA expression of the unknown gene, "clone 47", in brain tissue, glioblasoma, and several cancer cell lines by reverse transcription-polymerase chain reaction (RT-PCR). To test the time course for G0-phase arrest, serum stimulation and expression at various times for RT-PCR performed. RESULTS: We identified 23 novel genes by BLAST of the digested 130 clones. The expressions of "clone 47" mRNA of glioblastoma and several cancer lines were significantly higher than normal brain tissues and several normal cell lines. We confirmed the mRNA expression of "clone 47" was up-regulation for 0.5~1hr of WI-38 cell differentiation. CONCLUSION: The novel gene, "Clone 47" is upregulated in glioblastoma tissue and several cancer cell lines. This gene is time dependent activation during time course of serum stimulation. This result suggests that "clone 47" play a role in brain tumorigenesis and the activation of this "clone 47" may be necessary for the development of cancer.
Brain ; Carcinogenesis ; Cell Cycle Checkpoints ; Cell Differentiation ; Cell Line ; Clone Cells ; DNA, Complementary ; Glioblastoma* ; Humans ; RNA, Messenger ; Signal Transduction ; Up-Regulation

Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The main clinical features are mental retardation, developmental delay, craniofacial dysmorphism, and various congenital defects. Here, we report a de novo interstitial deletion in chromosome 13 (q21.3q31) in a neonate with congenital megacolon (Hirschsprung disease) confirmed by biopsy. A short tandem repeat analysis (D13S317) was used to compare the loci on the chromosomes of the patient and the parents, the latter representing the normal karyotype, to determine how the features of the profile peaks relate to the deletion. The clinical data were also compared with those of similar cases in previously published reports.
Arm ; Biopsy ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 13 ; Congenital Abnormalities ; Hirschsprung Disease ; Humans ; Infant, Newborn ; Intellectual Disability ; Karyotype ; Megacolon ; Microsatellite Repeats ; Parents ; Phenotype ; Polymethacrylic Acids