Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome

PMCID: PMC3604109This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

A dynamic network approach for the study of human phenotypes

The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases. Here we introduce a new phenotypic database summarizing correlations obtained from the disease history of more than 30 million patients in a Phenotypic Disease Network (PDN). We present evidence that the structure of the PDN is relevant to the understanding of illness progression by showing that (1) patients develop diseases close in the network to those they already have; (2) the progression of disease along the links of the network is different for patients of different genders and ethnicities; (3) patients diagnosed with diseases which are more highly connected in the PDN tend to die sooner than those affected by less connected diseases; and (4) diseases that tend to be preceded by others in the PDN tend to be more connected than diseases that precede other illnesses, and are associated with higher degrees of mortality. Our findings show that disease progression can be represented and studied using network methods, offering the potential to enhance our understanding of the origin and evolution of human diseases. The dataset introduced here, released concurrently with this publication, represents the largest relational phenotypic resource publicly available to the research community.Comment: 28 pages (double space), 6 figure

Magnetic resonance imaging (MRI) has failed to distinguish between smaller gut regions and larger haemal sinuses in sea urchins (Echinodermata: Echinoidea)

A response to Ziegler A, Faber C, Mueller S, Bartolomaeus T: Systematic comparison and reconstruction of sea urchin (Echinoidea) internal anatomy: a novel approach using magnetic resonance imaging. BMC Biol 2008, 6: 33

Active Tension Network model suggests an exotic mechanical state realized in epithelial tissues.

Mechanical interactions play a crucial role in epithelial morphogenesis, yet understanding the complex mechanisms through which stress and deformation affect cell behavior remains an open problem. Here we formulate and analyze the Active Tension Network (ATN) model, which assumes that the mechanical balance of cells within a tissue is dominated by cortical tension and introduces tension-dependent active remodeling of the cortex. We find that ATNs exhibit unusual mechanical properties. Specifically, an ATN behaves as a fluid at short times, but at long times supports external tension like a solid. Furthermore, an ATN has an extensively degenerate equilibrium mechanical state associated with a discrete conformal - "isogonal" - deformation of cells. The ATN model predicts a constraint on equilibrium cell geometries, which we demonstrate to approximately hold in certain epithelial tissues. We further show that isogonal modes are observed in the fruit y embryo, accounting for the striking variability of apical areas of ventral cells and helping understand the early phase of gastrulation. Living matter realizes new and exotic mechanical states, the study of which helps to understand biological phenomena

A simulation tool to assess the lightning induced over-voltages on dc cables of photovoltaic installations

The development of large scale photovoltaic (PV) plants in rural areas is constantly increasing. This paper describes appropriately scaled laboratory tests and geometrically accurate (real scale) simulation models in an attempt to assess the induced over-voltages on long dc cabling loops

Synthesis and characterization of grafted polystyrene with acrylonitrile using gamma-irradiation

Polystyrene grafted with acrylonitrile using gamma-irradiation technique was successfully synthesized. This process was carried out at various gamma dose (0.2-1.5 Mrad). The new grafted polymer was characterized and its properties were investigated. The results indicate that best grafting percentage ratio could be revealed when the concentration of the catalyst Ferrous Ammonium Sulphate (FAS) is about 2% and the monomer concentration is 90%, at 1.25 Mrad dose. The new grafted polymer was proved by FTIR, TGA and Viscosity techniques, which was analyzed and studied with a suggested presented mechanism. The adding of acrylonitrile to polystyrene improved the physical properties of polystyren

Mendelian randomization study of B-type natriuretic peptide and type 2 diabetes: evidence of causal association from population studies

<p>Background: Genetic and epidemiological evidence suggests an inverse association between B-type natriuretic peptide (BNP) levels in blood and risk of type 2 diabetes (T2D), but the prospective association of BNP with T2D is uncertain, and it is unclear whether the association is confounded.</p> <p>Methods and Findings: We analysed the association between levels of the N-terminal fragment of pro-BNP (NT-pro-BNP) in blood and risk of incident T2D in a prospective case-cohort study and genotyped the variant rs198389 within the BNP locus in three T2D case-control studies. We combined our results with existing data in a meta-analysis of 11 case-control studies. Using a Mendelian randomization approach, we compared the observed association between rs198389 and T2D to that expected from the NT-pro-BNP level to T2D association and the NT-pro-BNP difference per C allele of rs198389. In participants of our case-cohort study who were free of T2D and cardiovascular disease at baseline, we observed a 21% (95% CI 3%-36%) decreased risk of incident T2D per one standard deviation (SD) higher log-transformed NT-pro-BNP levels in analysis adjusted for age, sex, body mass index, systolic blood pressure, smoking, family history of T2D, history of hypertension, and levels of triglycerides, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol. The association between rs198389 and T2D observed in case-control studies (odds ratio = 0.94 per C allele, 95% CI 0.91-0.97) was similar to that expected (0.96, 0.93-0.98) based on the pooled estimate for the log-NT-pro-BNP level to T2D association derived from a meta-analysis of our study and published data (hazard ratio = 0.82 per SD, 0.74-0.90) and the difference in NT-pro-BNP levels (0.22 SD, 0.15-0.29) per C allele of rs198389. No significant associations were observed between the rs198389 genotype and potential confounders.</p> <p>Conclusions: Our results provide evidence for a potential causal role of the BNP system in the aetiology of T2D. Further studies are needed to investigate the mechanisms underlying this association and possibilities for preventive interventions.</p&gt

Influence of Culture and Religion on Anxiety Patients: A Qualitative Study in Sabah

Introduction: Anxiety is a common mental health disorder that significantly impacts the individual and socioeconomic. Sabah has the highest prevalence of mental health disorders among Malaysian states. The people of Sabah are varying in ethnicities with vast cultural beliefs embedded in the society, therefore understanding cultural and religious factors is essential for the implementation of effective approaches to mental health care. Objectives: To explore the influence of cultural and religious practice on the respondents’ anxiety levels. Methods: A total of 15 multiethnic participants residing in Sabah were recruited and interviewed for this study, in which participants were either patients with panic disorder or generalize anxiety disorder. Interpretative phenomenological perspective was employed through learning about the subjective experience and meaning making of the participants interviewed. Primary data obtained from the qualitative study were then thematically analysed using Nvivo software Results: Results showed that religious practices helped anxiety patients cope with their disorder, increase resilience, and give them strength and motivation; while cultural practices did not. Conclusions: Anxiety is chosen as a focus because of its high prevalence, especially during the COVID-19 pandemic. This study emphasized the importance of understanding the role of culture and religion in helping the respondents cope with their disorders. The findings of this study could help define more effective ways in raising awareness and encouraging health-promoting behaviour such as treatment-seeking among the community in Sabah

Synthesis of vanadium phosphate catalysts by hydrothermal method for selective oxidation of n-butane to maleic anhydride

Two vanadium phosphate catalysts (VPH1 and VPH2) prepared via hydrothermal method are described and discussed. Both catalysts exhibited only highly crystalline pyrophosphate phase. SEM showed that the morphologies of these catalysts are in plate-like shape and not in the normal rosette-type clusters. Temperature-programmed reduction in H2 resulted two reduction peaks at high temperature in the range of 600–1100 K. The second reduction peak appeared at 1074 K occurred as a sharp peak indicated that the oxygen species originated from V4+ phase are having difficulty to be removed and their nature are less reactive compared to other methods of preparation. Modified VPH2 gave better catalytic performance for n-butane oxidation to maleic anhydride contributed by a higher BET surface area, high mobility and reactivity of the lattice oxygen associated to the V4+ which involved in the hydrocarbon’s activation. A slight increased of the V5+ phase also enhanced the activity of the VPH2 catalyst

Carob seed germ meal as a partial soybean meal replacement in the diets of red hybrid tilapia

The feasibility of carob seed germ meal (CSGM) as a soybean meal (SBM) replacement in the diet of red tilapia hybrid was evaluated in an 8-week feeding trial. Five isonitrogenous and isocaloric diets with increasing CSGM (0, 10, 20, 30 and 40%), at the expense of SBM, were fed to triplicated groups of tilapia fingerlings. Their growth, feeding efficiency, whole body proximate composition, selected plasma biochemical parameters, and liver and gut histopathology were assessed. The survival and growth of red tilapia were unaffected by the dietary CSGM inclusion up to 30%. Growth and feeding efficiencies were significantly reduced at 40% CSGM inclusion. Hematocrit and body crude lipid were significantly lower (p < 0.05) in fish fed 30–40% CSGM while plasma ALT and protein were significantly higher compared to the control (0% CSGM). In addition, some instances of lipofuscin and cellular degradation were shown in liver while morphological changes were observed in fish fed 30 and 40% CSGM. Some of these included a 60% and 34% reduction in goblet cell prevalence and villi length, respectively, as well as a thickening of the intestinal mucosal and submucosa layers of 51 and 27%, respectively as dietary CSGM increased from 0 to 40%, that was likely due to increased anti-nutritional factors. In conclusion, a dietary inclusion of only up to 20% untreated CSGM was recommended for red hybrid tilapia