Eriksentimmermann1172
Background Tuber color is an important trait for Helianthus tuberosus L. (Jerusalem artichoke). Usually, purple tubers with high anthocyanin content are more nutritious than white tuber. But, the molecular mechanism underlying it is unknown. Results In the current study, high-throughput RNA-sequencing was used to compare the transcriptomes between plants with tubers with red or white epidermis. Compared with the white-skinned tubers of cultivar QY3, anthocyanin biosynthesis structural genes had greater expression in the red-skinned tubers of cultivar QY1, indicating that the anthocyanin biosynthesis pathway was activated in 'QY1'; quantitative PCR confirmed this difference in expression. HtMYB2 (Unigene44371_All) was the only MYB transcription factor, homologous to the MYB transcription factor regulating anthocyanin biosynthesis, expressed in the red tuber epidermis of 'QY1'. The anthocyanin concentration in the root, stem, leaf, flower, and tuber epidermis of 'QY1' was higher than in 'QY3', especially tuber q can successfully isolate the candidate gene (HTMYB2) controlling anthocyanin biosynthesis in purple epidermis of Jerusalem artichoke tuber. HTMYB2 can regulate anthocyanin biosynthesis in plants and is closely related to the formation of purple phenotype in tubers. This study should be useful in understanding the genetic mechanism underlying different tuber skin colors and in breeding new H. tuberosus cultivars with different tuber skin colors.Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that this patient carries a mutation for a second rare disease, Neuronal Ceroid Lipofuscinosis (NCL or CNL). We hypothesize that the CLN mutation she carries offers a protective effect, preventing tumor development in the cells potentially suffering a VHL second hit mutation. To test this hypothesis, we ran a series of molecular experiments and confirmed that cell viability of primary endothelial cells decreases upon CLN5 silencing. Our results further elucidate the cell biology implications of two rare diseases interacting.Background The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into smaller areas within a tissue sample, e.g. a cancerous area in a heterogeneous tissue sample, less material is used for sequencing, which results in lower read coverage. Therefore, more focus needs to be put on copy number calling that is sensitive enough for low coverage data. Results We present MetaCNV, a copy number caller that infers reliable copy numbers for human genomes with a consensus approach. MetaCNV specializes in low coverage data, but also performs well on normal and high coverage data. MetaCNV integrates the results of multiple copy number callers and infers absolute and unbiased copy numbers for the entire genome. MetaCNV is based on a meta-model that bypasses the weaknesses of current calling models while combining the strengths of existing approaches. Here we apply MetaCNV based on ReadDepth, SVDetect, and CNVnator to real and simulated datasets in order to demonstrate how the approach improves copy number calling. Conclusions MetaCNV, available at https//bitbucket.org/sonnhammergroup/metacnv, provides accurate copy number prediction on low coverage data and performs well on high coverage data.Background Little is known about female sex workers' (FSWs) reproductive health apart from their being at higher than usual risk of sexually transmitted infections (STIs), including HIV. The aim of this study was therefore to investigate the correlates of pregnancy among FSWs in semi - urban Blantyre in Malawi. Methods We used systematic sampling to recruit a total of 200 FSWs in four different study sites in Blantyre. learn more Data were collected through questionnaire interviews. We calculated the mean and standard deviation for continuous covariates and proportions for categorical variables to describe the data. Logistic regression analysis was used to examine the correlates between the outcome variable (pregnancy) and independent variables. Results Ninety one (45, 5%) FSWs were between 18 and 24 years. The prevalence of pregnancy was 61% for FSWs born in rural place as compared to 37% for those who were born in town. In multivariate analysis FSWs who reported to value being respected as mothers had 12 times the risk of pregnancy comparing to the ones who did not (AOR 11.8, 95% CI [4.56, 30.72] p-value less then 0.001). FSWs who reported using condoms inconsistently had five times the risk of pregnancy compared to the ones who did not, (AOR 5.26, 95% CI [2.29, 12.08], p-value less then 0.001). FSWs who had a request to bear children from steady partners had 5 times the risk of pregnancy comparing to the ones who did not (AOR 5.07, 95% CI [2.14, 11.99]). FSWs who reported forgetfulness of contraceptives' use had 3 times more risk of pregnancy comparing to the ones who did not (AOR 3.49 CI [1.29, 9.37], p-value less then 0.013). Conclusion The study documents a wide range of correlates of pregnancies among FSWs in the study sites. It is important to recognize the child bearing desires and circumstances of FSWs in order to inform health programs responsive to their needs.Background There is very little published literature and none that discussed care in a neonate regarding anesthetic risk and management of neonate with congenital bronchobiliary fistula during thoracoscopy and thoracotomy. This article analyzes related risk factors and literature review from perioperative ventilation, circulation and other aspects of management. Case presentation A neonate diagnosed as congenital bronchobiliary fistula combined with severe chemical pneumonia, consolidation of the lungs, and infection was facing the risk of anaesthesia under thoracoscopy exploration surgery, who experiened more than 20 days diagnostic period before operation. Many risk factors have led to conversion from minimally invasive surgery to thoracotomy, including persistent hypoxemia, hypercapnia, difficult surgical exposure and extremly difficulty of intraoperative ventilation management. Anesthesia maintenance after conversion to open access remained problematic. Fortunately the patient showed no sign of any adverse CNS effects after 4 months of follow-up.