Angioma serpiginosum is an uncommon, acquired vascular nevoid disorder with capillary dilation and proliferation in the papillary dermis. The eruptions are asymptomatic and characterized by grouped, erythematous to violaceous, serpiginous and punctate macules. The condition usually appears in females during adolescence on unilateral lower extremities and the buttocks. We report a rare case with a late onset and atypical distribution of lesions in a 48-year-old female patient who had groups of punctate lesions on her left foot for four to five years. Histopathological examination showed hyperkeratosis and multiple dilated and proliferated capillaries in the papillary dermis. Inflammation and extravasation of red blood cells were not found. According to the clinical and pathological findings, we established a diagnosis of angioma serpiginosum. She was treated with a pulsed dye laser, and the angiomatous lesions subsequently improved.
Female ; Foot Diseases/diagnosis/surgery ; Humans ; Lasers, Dye/therapeutic use ; Middle Aged ; Skin/blood supply/pathology/surgery ; Skin Diseases, Vascular/*diagnosis/surgery ; Telangiectasis/*diagnosis/surgery ; Treatment Outcome

We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in related studies, we built a database, cataloging the CNVs and related information. This system helps researchers browsing these variants with gene and structure variant annotations. Users can easily find specific regions with search options and verify them from system-integrated genome browsers with annotations.
Asian Continental Ancestry Group ; Cataloging ; Coat Protein Complex I ; Genome ; Humans

The aim of this study was to investigate the involvement of dopaminergic receptors (DR) in behavioral sensitization, as measured by locomotor activity, and the over-expression of cocaine- and amphetamine-regulated transcript (CART) peptides after repeated administration of cocaine in mice. Repeated administrations of cocaine induced behavioral sensitization and CART over-expression in mice. The levels of striatal CART mRNA were significantly increased on the 3rd day. CART peptides were over-expressed on the 5th day in the striata of behaviorally sensitized mice. A higher proportion of CART+ cells in the cocaine-treated mice were present in the nucleus accumbens (NAc) shell than in the dorsolateral (DL) part of caudate putamen (CP). The concomitant administration of both D1R and D2R antagonists, SCH 23390 (D1R selective) and raclopride (D2R selective), blocked cocaine induced-behavioral sensitization, CART over-expression, and cyclic adenosine 5'-monophosphate (cAMP)/protein kinase A (PKA)/phospho-cAMP response element-binding protein (pCREB) signal pathways. SCH 23390 more predominantly inhibited the locomotor activity, CART over-expression, pCREB and PKA activity than raclopride. Cocaine induced-behavioral sensitization was also attenuated in the both D1R and D2R knockout (KO) mice, respectively. CART over-expression and activated cAMP/PKA/pCREB signal pathways were inhibited in the D1R-KO mice, but not in the D2R-KO mice. It is suggested that behavioral sensitization, CART over-expression and activated cAMP/PKA/pCREB signal pathways induced by repeated administration of cocaine could be more predominantly mediated by D1R.
Adenosine ; Animals ; Cocaine* ; Mice ; Motor Activity ; Nucleus Accumbens ; Peptides* ; Phosphotransferases ; Putamen ; Raclopride ; Receptors, Dopamine ; RNA, Messenger ; Signal Transduction

MELAS syndrome is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, and cardiac involvement also frequently occurs. A 42-year-old female was admitted because of stroke like episodes and dyspnea. She had short status and hearing difficulty, and she complainded of general weakness. Brain MR revealed cortical sweeling and edema in temporal, parietal lobe and thalamus, which was not compatibe with stroke. Echocardiography revelaed hypertrophic left ventricular myocardium, resembling hypertrophic cardiomyopathy. Endomyocardial Biopsy confirmed myocardial involvement with MELAS syndrome.
Acidosis, Lactic ; Adult ; Biopsy ; Brain ; Cardiomyopathies ; Cardiomyopathy, Hypertrophic ; Dyspnea ; Echocardiography ; Edema ; Female ; Hearing ; Humans ; MELAS Syndrome* ; Mitochondrial Myopathies ; Myocardium ; Parietal Lobe ; Stroke ; Thalamus

Together with single nucleotide polymorphism (SNP), copy number variations (CNV) are recognized to be the major component of human genetic diversity and used as a genetic marker in many disease association studies. Affymetrix Genome-wide SNP 5.0 is one of the commonly used SNP array platforms for SNP-GWAS as well as CNV analysis. However, there has been no report that validated the accuracy and reproducibility of CNVs identified by Affymetrix SNP array 5.0. In this study, we compared the characteristics of CNVs from the same set of genomic DNAs detected by three different array platforms; Affymetrix SNP array 5.0, Agilent 2X244K CNV array and NimbleGen 2.1M CNV array. In our analysis, Affymetrix SNP array 5.0 seems to detect CNVs in a reliable manner, which can be applied for association studies. However, for the purpose of defining CNVs in detail, Affymetrix Genome-wide SNP 5.0 might be relatively less ideal than NimbleGen 2.1M CNV array and Agilent 2X244K CNV array, which outperform Affymetrix array for defining the small-sized single copy variants. This result will help researchers to select a suitable array platform for CNV analysis.
Coat Protein Complex I ; DNA ; Genetic Markers ; Genetic Variation ; Humans ; Polymorphism, Single Nucleotide

Lung cancer in never-smokers ranks as the seventh most common cause of cancer death worldwide, and the incidence of lung cancer in non-smoking Korean women appears to be steadily increasing. To identify the effect of genetic polymorphisms on lung cancer risk in non-smoking Korean women, we conducted a genome-wide association study of Korean female non-smokers with lung cancer. We analyzed 440,794 genotype data of 285 cases and 1,455 controls, and nineteen SNPs were associated with lung cancer development (P < 0.001). For external validation, nineteen SNPs were replicated in another sample set composed of 293 cases and 495 controls, and only rs10187911 on 2p16.3 was significantly associated with lung cancer development (dominant model, OR of TG or GG, 1.58, P = 0.025). We confirmed this SNP again in another replication set composed of 546 cases and 744 controls (recessive model, OR of GG, 1.32, P = 0.027). OR and P value in combined set were 1.37 and < 0.001 in additive model, 1.51 and < 0.001 in dominant model, and 1.54 and < 0.001 in recessive model. The effect of this SNP was found to be consistent only in adenocarcinoma patients (1.36 and < 0.001 in additive model, 1.49 and < 0.001 in dominant model, and 1.54 and < 0.001 in recessive model). Furthermore, after imputation with HapMap data, we found regional significance near rs10187911, and five SNPs showed P value less than that of rs10187911 (rs12478012, rs4377361, rs13005521, rs12475464, and rs7564130). Therefore, we concluded that a region on chromosome 2 is significantly associated with lung cancer risk in Korean non-smoking women.
Adenocarcinoma/*genetics/pathology ; Adult ; Aged ; Asian Continental Ancestry Group/*genetics ; Cell Adhesion Molecules, Neuronal/*genetics ; Chromosomes, Human, Pair 2 ; Female ; *Genome-Wide Association Study ; Genotype ; Humans ; Logistic Models ; Lung Neoplasms/*genetics/pathology ; Models, Genetic ; Nerve Tissue Proteins/*genetics ; Odds Ratio ; Polymorphism, Single Nucleotide ; Republic of Korea

BACKGROUND: Previous Caucasian studies have described venous thromboembolism in pregnancy; however, little is known about its incidence during pregnancy and early postpartum period in the Chinese population. We investigated the risk of venous thromboembolism in a “real-world” cohort of pregnant Chinese women with no prior history of venous thromboembolism. METHODS: In this observational study, 15,325 pregnancies were identified in 14,162 Chinese women at Queen Mary Hospital, Hong Kong between January 2004 and September 2016. Demographic data, obstetric information, and laboratory and imaging data were retrieved and reviewed. RESULTS: The mean age at pregnancy was 32.4±5.3 years, and the median age was 33 years (interquartile range, 29–36 yr). Pre-existing or newly diagnosed diabetes mellitus was present in 627 women (4.1%); 359 (0.7%) women had pre-existing or newly detected hypertension. There was a small number of women with pre-existing heart disease and/or rheumatic conditions. Most deliveries (86.0%) were normal vaginal; the remaining were Cesarean section 2,146 (14.0%). The incidence of venous thromboembolism was 0.4 per 1,000 pregnancies, of which 83.3% were deep vein thrombosis and 16.7% were pulmonary embolism. In contrast to previous studies, 66.7% of venous thrombosis occurred in the first trimester. CONCLUSION: Chinese women had a substantially lower risk of venous thromboembolism during pregnancy and the postpartum period compared to that of Caucasians. The occurrence of pregnancy-related venous thromboembolism was largely confined to the early pregnancy period, probably related to the adoption of thromboprophylaxis, a lower rate of Cesarean section, and early mobilization.
Asian Continental Ancestry Group ; Cesarean Section ; Cohort Studies ; Diabetes Mellitus ; Early Ambulation ; Female ; Heart Diseases ; Hong Kong ; Humans ; Hypertension ; Incidence ; Observational Study ; Postpartum Period ; Pregnancy ; Pregnancy Trimester, First ; Pregnant Women ; Pulmonary Embolism ; Venous Thromboembolism ; Venous Thrombosis

Antemortem diagnosis of inferior vena cava (IVC) and cardiac metastasis of hepatocellular carcinoma (HCC) is difficult but important to decide on treatment strategy. There are only a few cases of cardiac metastasis of HCC which have been diagnosed antemortem by echocardiography. We experienced 3 cases of IVC and Right atrial metastasis and 1 case of Left atrial metastasis of HCC. The tumor was discovered during computed tomography scanning. The patients had exhibited no signs of cardiac involvement. In this case, transesophageal echocardiography was valuable in providing information regarding the exact location of the tumor and its relation to surrounding anatomical structures. Left atrial metastasis of HCC is unusual patterns and probably related to tumor growth from the pulmonary veins following massive metastasis to the lung.
Carcinoma, Hepatocellular* ; Diagnosis ; Echocardiography ; Echocardiography, Transesophageal ; Humans ; Lung ; Neoplasm Metastasis* ; Pulmonary Veins ; Vena Cava, Inferior

Dendrobii Caulis (DC), named 'Shihu' in Chinese, is a precious herb in traditional Chinese medicine. It is widely used to nourish stomach, enhance body fluid production, tonify "Yin" and reduce heat. More than thirty Dendrobium species are used as folk medicine. Some compounds from DC exhibit inhibitory effects on macrophage inflammation. In the present study, we compared the anti-inflammatory effects among eight Dendrobium species. The results provided evidences to support Dendrobium as folk medicine, which exerted its medicinal function partially by its inhibitory effects on inflammation. To investigate the anti-inflammatory effect of Dendrobium species, mouse macrophage cell line RAW264.7 was activated by lipopolysaccharide. The nitric oxide (NO) level was measured using Griess reagent while the pro-inflammatory cytokines were tested by ELISA. The protein expressions of inducible NO synthase (iNOS), cyclooxygenase-2 (COX-2) and mitogen-activated protein kinases (MAPKs) phosphorylation were evaluated by Western blotting analysis. Among the eight Dendrobium species, both water extracts of D. thyrsiflorum B.S.Williams (DTW) and D. chrysotoxum Lindl (DCHW) showed most significant inhibitory effects on NO production in a concentration-dependent manner. DTW also significantly reduced TNF-α, MCP-1, and IL-6 production. Further investigations showed that DTW suppressed iNOS and COX-2 expression as well as ERK and JNK phosphorylation, suggesting that the inhibitory effects of DTW on LPS-induced macrophage inflammation was through the suppression of MAPK pathways. In conclusion, D. thyrsiflorum B.S.Williams was demonstrated to have potential to be used as alternative or adjuvant therapy for inflammation.
Animals ; Anti-Inflammatory Agents ; pharmacology ; Cyclooxygenase 2 ; genetics ; Cytokines ; metabolism ; Dendrobium ; chemistry ; Gene Expression Regulation, Enzymologic ; drug effects ; Inflammation ; chemically induced ; drug therapy ; Lipopolysaccharides ; Macrophages ; drug effects ; enzymology ; Mice ; Mitogen-Activated Protein Kinases ; antagonists & inhibitors ; genetics ; metabolism ; Nitric Oxide ; analysis ; Nitric Oxide Synthase Type II ; genetics ; Phosphorylation ; drug effects ; Plant Extracts ; pharmacology ; RAW 264.7 Cells ; Signal Transduction ; drug effects

Background: The risk and benefit of tissue plasminogen activator (tPA) for aged>80 years with acute ischemic stroke (AIS) are controversial. In this study, we investigated the safety and efficacy of tPA in this population and utilized the artificial neural network (ANN) to established outcome predictive models. Methods: We retrospectively reviewed the stroke registry data of patients with AIS, aged >80 years who arrived at the hospital within 3 hours from the onset of symptoms. The characteristics and the outcomes, presented as modified Rankin Scale (mRS), and mortality rate at 3 months between the tPA-treated and non-tPA groups were analyzed. An ANN algorithm was applied to establish predictive models. Results: A total of 80 patients aged>80 years with AIS were identified, and 49 of them received tPA. After adequate training, our ANN models accurately predicted the outcomes with the area under the receiver operating characteristic curves of 0.974, and a low error to predict the mRS score at 3 months. After applying our prediction model to those in the non-tPA group, we demonstrated the potential benefits in those patients if they had undergone tPA therapy. Conclusions: Our results show that ANN can be a potentially useful tool for predicting the treatment outcomes of tPA. Such novel machine learning-based models may help with therapeutic decision making in clinical settings.