PURPOSE: MMPs are involved in the degradation of the extracellular matrix, which is an important step in tumor invasion and metastasis. Among the MMPs, a positive correlation between the expressions of MMP-2 and MMP-9, and the aggressive behavior of breast carcinomas has been reported, but the role of the MMP-2 and MMP-9 expressions in DCIS is still not known. Angiogenesis has a crucial role in tumor growth and metastasis. The aim of this study was to investigate the relationships between the expressions of the MMPs, the angiogenic factor (VEGF) and the microvessel density (MVD) in a ductal carcinoma in situ (DCIS) of the breast. METHODS: 42 cases of DCIS, diagnosed at the Busan Paik Hospital, between 1992 and 2002, were the subjects of this study. The rates of MMP-2 and 9 expressions and VEGF were evaluated using immunohistochemistry, and the MVD was measured by CD 34 immunohistochemical staining. The statistical analyses between the expressions of MMP-2, MMP-9 and VEGF and the MVD, patient's age (more than 50 years old, less than 50 years old), histological subtype (comedo or non-comedo) and nuclear grade (I, II, III), and their correlation were exained. RESULTS: The expressions of MMP-2 and MMP-9 were noted in 20 (47.6%) and 22 (52.4%) of the 42 cases, respectively. There were no significant relationships between the expressions of MMP-2 and MMP-9 and the patient's age and histological subtype, but the expression rate of MMP-9 showed an increased tendency in cases with nuclear grades II and III compared with the cases with nuclear grade I (P=0.0863), but no significant difference between the MMP-2 expression and the nuclear grades was noted. The VEGF was expressed in 47.6% of the cases, and the mean MVD was 21 per x200 field, with 13 (30.9%) of the 42 cases showing increased MVD. The VEGF expression rate showed an increasing tendency in the cases younger than 50 years old (P= 0.1011), but no significant differences according to the histological subtype and nuclear grades were seen. There were no relationships between the MVD and the clinico-pathological factors. The MVD showed an increasing tendency in cases with a non-comedo histological type compared to the comedo type (P=0.0536). No positive correlation between the expression of VEGF and MVD was noted. No significant relationship between expressions of MMP-2 and VEGF and the MVD were seen, but the rate of MMP-9 expression was significantly higher in the VEGFpositive cases (P=0.0293), however, no relationship between MMP9 expression and MVD was found. CONCLUSION: The expressions of MMP-2 and MMP-9 in DCIS are suggestive of their involvement in the development of breast cancers. However, with non-invasive lesions, and the positive correlation between the MMP-9 and VEGF expressions and the nuclear grades, means that the expression of MMP-9 may represent the biological behavior of DCIS, but the role of MMP-2 expression is still uncertain in the development of breast carcinomas.
Angiogenesis Inducing Agents ; Breast Neoplasms ; Breast* ; Busan ; Carcinoma, Intraductal, Noninfiltrating* ; Extracellular Matrix ; Immunohistochemistry ; Matrix Metalloproteinases ; Microvessels* ; Neoplasm Metastasis ; Vascular Endothelial Growth Factor A*

Inflammatory linear verrucous epidermal nevus(ILVEN) is a relatively rare skin disorder, characterized by chronic inflammatory psoriasiform pattern. This chronic skin disorder is generally believed to be resistant to various treatments, although some authors have reported success with 13-cis-retinoic acid and 585 nm pulsed laser therapy. We experienced a 15-month aged female ILVEN patient who has been suffered from linear erythematous verrucous pathes mainly located on left inguinal area, hand, and foot with persistent itching sense. This skin lesion have been developed at birth, and more spread out toward right extremity after 1 year old age . We initially treated this skin lesion with topical corticosteroids and oral anti-histamines, but this treatment was not successful. So we retreated this patient with etretinate(oral retinoid) and topical 13-cis-retinoic acids, we found that therapeutic responses to these applications were more remarkable. Now, we closely observe this patient's clinical course further more.
Adrenal Cortex Hormones ; Etretinate ; Extremities ; Female ; Foot ; Hand ; Humans ; Isotretinoin ; Laser Therapy ; Nevus, Sebaceous of Jadassohn* ; Parturition ; Pruritus ; Skin

Although pancreatic endoplasmic reticulum kinase (PERK) is indispensable to beta cells, low-dose PERK inhibitor improved glucose- stimulated insulin secretion (GSIS) and hyperglycemia in diabetic mice. Current study examined if partial deletion of Perk (Perk+/-) recapitulated the effects of PERK inhibitor, on the contrary to the complete deletion. Perk+/- mice and wild-type controls were fed with a high-fat diet (HFD) for 23 weeks. Glucose tolerance was evaluated along with serum insulin levels and islet morphology. Perk+/- mice on normal chow were comparable to wild-type mice in various metabolic features. HFD-induced obesity was not influenced by Perk reduction; however, HFD-induced glucose intolerance was significantly improved since 15-week HFD. HFD-induced compromises in GSIS were relieved by Perk reduction, accompanied by reductions in phosphorylated PERK and activating transcription factor 4 (ATF4) in the islets. Meanwhile, HFD-induced islet expansion was not significantly affected. In summary, partial deletion of Perk improved glucose tolerance and GSIS impaired by diet-induced obesity, without changes in body weights or islet mass.

Climate change induced by recent global warming may have a significant impact on vector-borne and zoonotic diseases. For example, the distribution of Japanese encephalitis virus (JEV) has expanded into new regions. We surveyed the levels of hemagglutination-inhibition (HI) antibodies against JEV (Family Flaviviridae, genus Flavivirus) in wild birds captured in Korea. Blood samples were collected from 1,316 wild birds including the following migratory birds: Oceanodroma castro (n = 4), Anas formosa (n = 7), Anas penelope (n = 20), Fulica atra (n = 30), Anas acuta (n = 89), Anas crecca (n = 154), Anas platyrhynchos (n = 214), Aix galericulata (n = 310), and Anas poecilorhyncha (n = 488). All were captured in 16 locations in several Korea provinces between April 2007 and December 2009. Out of the 1,316 serum samples tested, 1,141 (86.7%) were positive for JEV. Wild birds captured in 2009 had a higher seroprevalence of ant-JEV antibodies than those captured in 2007. Wild birds with an HI antibody titer of 1 : 1,280 or higher accounted for 21.2% (280/1,316) of the animals tested. These findings indicated that wild birds from the region examined in our study have been exposed to JEV and may pose a high risk for introducing a new JEV genotype into Korea.
Animal Migration ; Animals ; Animals, Wild ; Bird Diseases/*epidemiology/virology ; Birds ; Encephalitis Virus, Japanese/genetics/*isolation & purification ; Encephalitis, Japanese/blood/epidemiology/*veterinary/virology ; Genotype ; Hemagglutination Inhibition Tests ; Population Surveillance ; Republic of Korea/epidemiology ; Seroepidemiologic Studies

PURPOSE: This study aimed to perform a systematic review of the reports on Mycoplasma pneumoniae pneumonia in the last 30 years (1980-2006) to investigate the intervals between outbreaks, change in the peak incidence age, and diagnostic methods. We also aimed to validate the proper diagnostic criteria for M. pneumoniae pneumonia. METHODS: We reviewed 62 original articles on M. pneumoniae pneumonia in Korean children. We analyzed the annual or seasonal variation, study areas, patient age, journal names, and the date of each report. Further, we checked the methods and criteria used for the diagnosis of M. pneumoniae pneumonia. We also confirmed the proper mycoplasma antibody cutoff using the mycoplasma IgM titer as the gold standard. RESULTS: In the last 30 years, epidemic outbreaks of M. pneumoniae pneumonia occurred every 3 years, except in 1993-1994 and 1996-1997. Seasonal variations were also present and were most prevalent in October and November. The number of preschool children, especially those aged 3 years or younger, with M. pneumoniae pneumonia has increased (P<0.05). The mycoplasma antibody titer of 1:640 or greater was appropriate for diagnosing M. pneumoniae pneumonia, with an acceptable sensitivity and specificity of detection. CONCLUSION: We analyzed the results of studies on M. pneumoniae pneumonia in Korean children during the last 30 years. Infection in younger children is increasing, and further research is required to reveal the major cause of the changing epidemics.
Aged ; Child ; Child, Preschool ; Disease Outbreaks ; Humans ; Immunoglobulin M ; Incidence ; Mycoplasma ; Mycoplasma pneumoniae ; Pneumonia ; Pneumonia, Mycoplasma ; Seasons ; Sensitivity and Specificity

PURPOSE: Defects in the DNA damage repair process can cause genomic instability and play an important role in cervical carcinogenesis. The purpose of this study was to analyze the association of 29 candidate single nucleotide polymorphisms (SNPs) in genes in the DNA repair pathway, TP53, and TP53BP1 with the risk of cervical cancer. MATERIALS AND METHODS: Twenty-nine SNPs in four genes in the DNA repair pathway (ERCC2, ERCC5, NBS1, and XRCC1), TP53, and TP53BP1 were genotyped for 478 cervical cancer patients and 922 healthy control subjects, and their effects on cervical carcinogenesis were analyzed. RESULTS: The most significant association was found for rs17655 in ERCC5, with an age-adjusted p-value < 0.0001, for which a strong additive effect of the risk allele C was observed (odds ratio, 2.01 for CC to GG). On the other hand, another significant polymorphism rs454421 in ERCC2 showed a dominant effect (odds ratio, 1.68 for GA+AA to GG) with an age-adjusted p-value of 0.0009. The association of these polymorphisms remained significant regardless of the age of onset. The significant result for rs17655 was also consistent for subgroups of patients defined by histology and human papillomavirus (HPV) types. However, for rs454421, the association was observed only in patients with squamous cell carcinoma and non-HPV 18 type. CONCLUSION: The results of this study show a novel association of cervical cancer and the genes involved in the nucleotide excision pathway in the Korean population.
Age of Onset ; Alleles ; Carcinogenesis ; Carcinoma, Squamous Cell ; DNA Damage ; DNA Repair* ; Genomic Instability ; Hand ; Humans ; Polymorphism, Single Nucleotide ; Uterine Cervical Neoplasms*

Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA) genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The HLA-DRB1*04:05-HLA-DQB1*04:01 haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009). A histidine residue at HLA-DRbeta1 position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI ,1.01 to 5.94; p = 0.054). Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.
Autoimmunity ; Exome ; Genetic Predisposition to Disease ; Genotype* ; Haplotypes ; Hemoglobin A, Glycosylated ; Histidine ; HLA Antigens ; Humans ; Hyperglycemia ; Insulin ; Ketosis ; Leukocytes ; Risk Factors

We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a large increase in the risk for hematologic malignancies among patients with genetic changes in the BRCA pathways. The genomic analysis demonstrated a frameshift mutation in the BRCA1 gene: 277_279delinsCC (Phe93fs). It is a novel BRCA1 mutation that has never been reported, and caused malignant lymphoma as well as breast and ovarian cancer.
Breast ; Breast Neoplasms* ; Female ; Frameshift Mutation ; Genes, BRCA1* ; Germ-Line Mutation* ; Hematologic Neoplasms ; Humans ; Lymphoma ; Lymphoma, B-Cell* ; Middle Aged* ; Ovarian Neoplasms*

OBJECTIVE: To determine the clinical significance of persistent left superior vena cava (PLSVC) in a fetus with and without cardiac and extra-cardiac anomalies. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally at our institution between May 2001 and May 2008. This retrospective study included 85 fetuses with PLSVC who were diagnosed based on the presence of an additional vessel identified to the left of the pulmonary artery in the three-vessel view of the heart. Patient charts and recorded images were reviewed in order to identify associated conditions and outcomes. Telephone interviews were conducted to check patients' conditions in cases of isolated PLSVC. RESULTS: Eighty-five cases of PLSVC were detected prenatally during this study period. Of these 85 fetuses, 11 were aborted due to associated, prenatally proven, severe congenital heart anomalies or chromosomal anomalies, and 52 fetuses were delivered. The cases for other 22 fetuses were lost to follow-up. Postnatal echocardiography was performed in the 33, surviving patients, and PLSVC was confirmed in 32 of these patients. The most common associated congenital cardiac anomalies were seen included VSD, AVSD, and DORV (54.1%, 17.6% and 17.6%, respectively) (Table 3). PLSVC was also seen in seven cases (8.2%) of right isomerism and in four cases (4.7%) of left isomerism. In only two cases was the coexistence of PLSVC and extra-cardiac anomalies noted in this study. Fifteen cases were prenatally diagnosed as isolated PLSVC and all of them had live births. The follow-up period in our isolated PLSVC patients ranged from 0.5 to 84 months (Mean 24.5 months). Thirteen of these infants were doing well at the time of preparing this document and one case was diagnosed as TAPVR on postnatal echocardiography and one case was lost to follow-up. CONCLUSION: We strongly suggest that PLSVC is a benign vascular malformation and does not affect to the patient after birth. However, PLSVC is frequently associated with heterotaxy syndromes as well as other cardiac malformations and can be misdiagnosed as TAPVR. So if we find PLSVC in prenatal ultrasonography, meticulous inspection of the fetal anatomy must be performed.
Echocardiography ; Female ; Fetus ; Follow-Up Studies ; Glycosaminoglycans ; Heart ; Heterotaxy Syndrome ; Humans ; Infant ; Interviews as Topic ; Isomerism ; Live Birth ; Lost to Follow-Up ; Parturition ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Pulmonary Artery ; Retrospective Studies ; Scimitar Syndrome ; Ultrasonography, Prenatal ; Vascular Malformations ; Vena Cava, Superior

Prenatal intervention of severe fetal aortic valve stenosis by ultrasound-guided percutaneous balloon valvuloplasty has been performed to prevent the progression to hypoplastic left heart syndrome, and achieve biventricular circulation in neonates. Here we report a case of fetal aortic valvuloplasty prenatally diagnosed with aortic stenosis at 24 weeks of gestation and showed worsening features on a follow-up echocardiography. Prenatal aortic valvuloplasty was performed at 29 weeks of gestation, and was a technical success. However, fetal bradycardia sustained, and an emergency cesarean delivery was performed. To the best of our knowledge, this is the first reported case of fetal aortic valvuloplasty which was performed in Asia.
Aortic Valve Stenosis ; Asia* ; Balloon Valvuloplasty ; Bradycardia ; Echocardiography ; Emergencies ; Fetal Heart ; Fetal Therapies ; Follow-Up Studies ; Humans ; Hypoplastic Left Heart Syndrome ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis