New Records of Two Stichotrichid Ciliates, Afroamphisiella multinucleata and Pseudokahliella marina (Ciliophora: Spirotrichea: Stichotrichida) from Korea

Two stichotrichid ciliates, collected from marine waters in Jeju Island, were identified as Afroamphisiella multinucleata Foissner et al., 2002 and Pseudokahliella marina (Foissner et al., 1982) Berger et al., 1985. They are recorded for the first time in Korea. The descriptions are based on examinations of living as well as protargol- impregnated specimens. These species are characterized as follows. Afroamphisiella multinucleata has a body size in vivo of 70-95×20-35 μm; elongate rectangular in shape; contractile vacuole located slightly above mid-body. The adoral zone is bipartited into 3 distal and 13-17 proximal membranelles and occupies 28-35% of the body length. The frontal row comprises 1-4 cirri and one buccal cirrus. The amphisiellid median cirral row is composed of 14-21 cirri, 10-19 left marginal cirri, and 21-30 right marginal cirri. Cortical granules are yellowish. 11-20 globular/ellipsoidal macronuclear nodules arrange proximally along the cell margins. Pseudokahliella marina has a body size in vivo of 110-195×40-110 μm and broadly elliptical in shape. The adoral zone of the membranelles occupies 50-60% of the body length, and is composed of 41-70 membranelles. A prominent frontal scutum is present. The contractile vacuole is located below the mid-body. There are 11- 13 frontoventral rows, including marginal rows. Caudal cirri and transverse cirri are absent. Three invariable non-fragmented bipolar dorsal kineties are present. The left and right marginal rows are composed of 22-35 and 28-40 cirri, respectively. Colourless cortical granules are present. 8-11 spherical/ellipsoidal macronuclear nodules are connected with each other by thread-like tructures, forming an inverted C-shape

Nucleosome deposition and DNA methylation at coding region boundaries

Nucleosomes and methylation have been observed to peak at both ends of protein coding units in a genome-wide survey

Genetic and Metabolic Characterization of Insomnia

Insomnia is reported to chronically affect 10∼15% of the adult population. However, very little is known about the genetics and metabolism of insomnia. Here we surveyed 10,038 Korean subjects whose genotypes have been previously profiled on a genome-wide scale. About 16.5% reported insomnia and displayed distinct metabolic changes reflecting an increase in insulin secretion, a higher risk of diabetes, and disrupted calcium signaling. Insomnia-associated genotypic differences were highly concentrated within genes involved in neural function. The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively. Putative enhancers, as indicated by the histone mark H3K4me1, were discovered within both genes near the significant SNPs. In neuronal cells, the enhancers were bound by PAX6, a neural transcription factor that is essential for central nervous system development. Open chromatin signatures were found on the enhancers in human pancreas, a tissue where PAX6 is known to play a role in insulin secretion. In PLCB1, CTCF was found to bind downstream of the enhancer and interact with PAX6, suggesting that it can probably inhibit gene activation by PAX6. PLCB4, a circadian gene that is closely located downstream of PLCB1, was identified as a candidate target gene. Hence, dysregulation of ROR1, PLCB1, or PLCB4 by PAX6 and CTCF may be one mechanism that links neural and pancreatic dysfunction not only in insomnia but also in the relevant psychiatric disorders that are accompanied with circadian rhythm disruption and metabolic syndrome

DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load

Mitotic cell division increases tumour mutation burden and copy number load, predictive markers of the clinical benefit of immunotherapy. Cell division correlates also with genomic demethylation involving methylation loss in late-replicating partial methylation domains. Here we find that immunomodulatory pathway genes are concentrated in these domains and transcriptionally repressed in demethylated tumours with CpG island promoter hypermethylation. Global methylation loss correlated with immune evasion signatures independently of mutation burden and aneuploidy. Methylome data of our cohort (n = 60) and a published cohort (n = 81) in lung cancer and a melanoma cohort (n = 40) consistently demonstrated that genomic methylation alterations counteract the contribution of high mutation burden and increase immunotherapeutic resistance. Higher predictive power was observed for methylation loss than mutation burden. We also found that genomic hypomethylation correlates with the immune escape signatures of aneuploid tumours. Hence, DNA methylation alterations implicate epigenetic modulation in precision immunotherapy

Identification of DNA methylation changes associated with human gastric cancer

<p>Abstract</p> <p>Background</p> <p>Epigenetic alteration of gene expression is a common event in human cancer. DNA methylation is a well-known epigenetic process, but verifying the exact nature of epigenetic changes associated with cancer remains difficult.</p> <p>Methods</p> <p>We profiled the methylome of human gastric cancer tissue at 50-bp resolution using a methylated DNA enrichment technique (methylated CpG island recovery assay) in combination with a genome analyzer and a new normalization algorithm.</p> <p>Results</p> <p>We were able to gain a comprehensive view of promoters with various CpG densities, including CpG Islands (CGIs), transcript bodies, and various repeat classes. We found that gastric cancer was associated with hypermethylation of 5' CGIs and the 5'-end of coding exons as well as hypomethylation of repeat elements, such as short interspersed nuclear elements and the composite element SVA. Hypermethylation of 5' CGIs was significantly correlated with downregulation of associated genes, such as those in the <it>HOX </it>and histone gene families. We also discovered long-range epigenetic silencing (LRES) regions in gastric cancer tissue and identified several hypermethylated genes (<it>MDM2</it>, <it>DYRK2</it>, and <it>LYZ</it>) within these regions. The methylation status of CGIs and gene annotation elements in metastatic lymph nodes was intermediate between normal and cancerous tissue, indicating that methylation of specific genes is gradually increased in cancerous tissue.</p> <p>Conclusions</p> <p>Our findings will provide valuable data for future analysis of CpG methylation patterns, useful markers for the diagnosis of stomach cancer, as well as a new analysis method for clinical epigenomics investigations.</p

Endoscopic Cryotherapy of Lung and Bronchial Tumors: A Systematic Review

Background/Aims: We made a systematic review and evaluation of endoscopic cryotherapy of endobronchial tumors, investigating safety and efficacy. Methods: Qualified studies regarding endoscopic cryotherapy of lung tumors were systemically evaluated using available databases according to predefined criteria. Results: In total, 16 publications were included in the final assessment. A narrative synthesis was performed because a formal meta-analysis was not viable due to the lack of controlled studies and study heterogeneity. Overall success rates for significant recanalization of the obstruction were approximately 80%, although they varied, depending on disease status in the patient population. Complications from the procedure developed in 0-11.1% of cases, most of which were minor and controlled by conservative management. Although limited data were available on comprehensive functional assessment, some studies showed that respiratory symptoms, pulmonary function tests, and performance status were significantly improved. Conclusions: Endoscopic cryotherapy was found to be a safe and useful procedure in the management of endobronchial tumors although its efficacy and appropriate indications have yet to be determined in well-designed controlled studies

LOWER EXTREMITY KINEMATICS OF SKI MOTION ON HILLS

This research study aimed to collect thre- dimensional joint angles of the lower extremity during a basic ski motion in order to provide more quantitative teaching guide-lines for ski instructors. Eleven infrared cameras were placed to cover the capture volume of three different stopping movements (e.g. “Pflug Fahren”) on hills. Six ski instructors participated in the test. Three trials of each stop were selected for comparison. Based on the results, skiers tended to use the edge of the ski and maintain a wider “V” shape at the shortest stop distance (e.g. 2m) compared to the other stops. Also, each skier had to invert the foot with a less flexed and more abducted knee and hip position as the stopping distance was decreased. This information will be useful for the development of more objective teaching guide-lines for beginner skiers