Dichromacy: Color Vision Impairment and Consanguinity in Heterogenous Population of Pakistan

Background and Objectives: Dichromacy, an X-linked recessive disorder is identified worldwide, more in males than females. In European Caucasians, its incidence is 8% in males and 0.5% in females. In India, it is 8.73% in males and 1.69% in females, and in Iran, it is 8.18% in males and 0.43% in females. Population based epidemiological data about dichromacy in different ethnic groups in Pakistan is not available. The aim of this study was to find out the population prevalence of inherited red-green dichromacy in a heterogenous population of the district of Chiniot, Punjab, Pakistan, and to determine the impact of consanguinity and ethnicity. Methods: In this cross-sectional study, boys and girls of the higher secondary schools were examined in the three tehsils of district Chiniot. Pseudoisochromatic Ishihara Test has been employed for detection of dichromacy in the study population. The sample size was calculated statistically as 260, which was expanded to 705 and divided by population density of the three tehsils. Results: Screening of 359 males and 346 females revealed 19 (5.29%) dichromat males and only 2 (0.58%) females. The study population belonged to 23 castes / isonym groups. The consanguinity found in the district of Chiniot is 84.82% and in the dichromat families, it is 85.71%, of which 52.37% are first cousin. Interpretation & Conclusion: The study has shown that the incidence of dichromacy could be reduced through genetic counselin

Extreme events and event size fluctuations in biased random walks on networks

Random walk on discrete lattice models is important to understand various types of transport processes. The extreme events, defined as exceedences of the flux of walkers above a prescribed threshold, have been studied recently in the context of complex networks. This was motivated by the occurrence of rare events such as traffic jams, floods, and power black-outs which take place on networks. In this work, we study extreme events in a generalized random walk model in which the walk is preferentially biased by the network topology. The walkers preferentially choose to hop toward the hubs or small degree nodes. In this setting, we show that extremely large fluctuations in event-sizes are possible on small degree nodes when the walkers are biased toward the hubs. In particular, we obtain the distribution of event-sizes on the network. Further, the probability for the occurrence of extreme events on any node in the network depends on its 'generalized strength', a measure of the ability of a node to attract walkers. The 'generalized strength' is a function of the degree of the node and that of its nearest neighbors. We obtain analytical and simulation results for the probability of occurrence of extreme events on the nodes of a network using a generalized random walk model. The result reveals that the nodes with a larger value of 'generalized strength', on average, display lower probability for the occurrence of extreme events compared to the nodes with lower values of 'generalized strength'

Tall Fescue Expressed Sequence Tag and Simple Sequence Repeats: Important Resources for Grass Species

Expressed sequence tag (EST) databases have been growing exponentially. The simple sequence repeat (SSR) has become one of the most useful molecular marker systems in plant breeding and is widely used in cultivar fingerprinting, genetic diversity assessment, molecular mapping and marker-assisted selection. ESTs are a potential source for SSRs. The EST-SSR markers are of high quality and have versatile applications in molecular breeding (Bughrara et al., 2003; Saha et al., 2004 a, b, c). Here, we present an overview of our efforts to develop SSRs from tall fescue ESTs and their application for the genetic improvement of forage and turf grass species

Epidemiology of simultaneous medullary and papillary thyroid carcinomas (MTC/PTC): An Italian multicenter study

Background: The concomitant presence of papillary thyroid cancer (PTC) and medullary TC (MTC) is rare. In this multicentric study, we documented the epidemiological characteristics, disease conditions and clinical outcome of patients with simultaneous MTC/PTC. Methods: We collected data of patients with concomitant MTC/PTC at 14 Italian referral centers. Results: In total, 183 patients were enrolled. Diagnosis was mostly based on cytological examination (n = 58, 32%). At diagnosis, in the majority of cases, both PTC (n = 142, 78%) and MTC (n = 100, 54%) were at stage I. However, more cases of stage II\u2013IV were reported with MTC (stage IV: n = 27, 15%) compared with PTC (n = 9, 5%). Information on survival was available for 165 patients: 109 patients (66%) were disease-free for both PTC and MTC at the last follow-up. Six patients died from MTC. Median time to progression was 123 months (95% confidence interval (CI): 89.3\u2013156.7 months). Overall, 45% of patients were disease-free after >10 years from diagnosis (125 months); this figure was 72.5% for PTC and 51.1% for MTC. Conclusions: When MTC and PTC are concurrent, the priority should be given to the management of MTC since this entity appears associated with the most severe impact on prognosis

Identification of Quantitative Trait Loci for Flowering Time in a Field-Grown \u3cem\u3eLolium Perene x Lolium Multiflorum\u3c/em\u3e Mapping Population

Perennial ryegrass (L. perenne) and annual, or Italian, ryegrass (L. multiflorum) are considered to be separate species by the seed trade, and are used and bred for distinct purposes. However, the two species are cross-fertile. Seed producers rely on the different flowering times of the two species to produce pure seed. Flowering times can overlap, leading to genetic mixing. Contamination of perennial ryegrass seed lots with annual types is an expensive problem for grass seed producers in western Oregon, USA

Inference algorithms for gene networks: a statistical mechanics analysis

The inference of gene regulatory networks from high throughput gene expression data is one of the major challenges in systems biology. This paper aims at analysing and comparing two different algorithmic approaches. The first approach uses pairwise correlations between regulated and regulating genes; the second one uses message-passing techniques for inferring activating and inhibiting regulatory interactions. The performance of these two algorithms can be analysed theoretically on well-defined test sets, using tools from the statistical physics of disordered systems like the replica method. We find that the second algorithm outperforms the first one since it takes into account collective effects of multiple regulators

Cloud-native databases : an application perspective

As cloud computing technologies evolve to better support hosted software applications, software development businesses are faced with a multitude of options to migrate to the cloud. A key concern is the management of data. Research on cloud-native applications has guided the construction of highly elastically scalable and resilient stateless applications, while there is no corresponding concept for cloud-native databases yet. In particular, it is not clear what the trade-offs between using self-managed database services as part of the application and provider-managed database services are. We contribute an overview about the available options, a testbed to compare the options in a systematic way, and an analysis of selected benchmark results produced during the cloud migration of a commercial document management application

Deregulated expression of aurora kinases is not a prognostic biomarker in papillary thyroid cancer patients.

Abstract A number of reports indicated that Aurora-A or Aurora-B overexpression represented a negative prognostic factor in several human malignancies. In thyroid cancer tissues a deregulated expression of Aurora kinases has been also demonstrated, butno information regarding its possible prognostic role in differentiated thyroid cancer is available. Here, weevaluated Aurora-A and Aurora-B mRNA expression and its prognostic relevance in a series of 87 papillary thyroid cancers (PTC), with a median follow-up of 63 months. The analysis of Aurora-A and Aurora-B mRNA levels in PTC tissues, compared to normal matched tissues, revealed that their expression was either up-or down-regulatedin the majority of cancer tissues. In particular, Aurora-A and Aurora-B mRNA levels were altered, respectively, in 55 (63.2%) and 79 (90.8%) out of the 87 PTC analyzed. A significant positive correlation between Aurora-A and Aurora-B mRNAswas observed (p=0.001). The expression of both Aurora genes was not affected by the BRAF(V600E) mutation. Univariate, multivariate and Kaplan-Mayer analyses documented the lack of association between Aurora-A or Aurora-B expression and clinicopathological parameterssuch as gender, age, tumor size, histology, TNM stage, lymph node metastasis and BRAF status as well asdisease recurrences or disease-free interval. Only Aurora-B mRNA was significantly higher in T(3-4) tissues, with respect to T(1-2) PTC tissues. The data reported here demonstrate that the expression of Aurora kinases is deregulated in the majority of PTC tissues, likely contributing to PTC progression. However, differently from other human solid cancers, detection of Aurora-A or Aurora-B mRNAs is not a prognostic biomarker inPTC patients

Variational calculations of the Λ\Lambda-seperation energy of the Λ17_{\Lambda}^{17}O hypernucleus

Variational Monte Carlo calculations have been made for the $_{ \Lambda}^{17}$O hypernucleus using realistic two- and three-baryon interactions. A two pion exchange potential with spin- and space-exchange components is used for the $\Lambda$N potential. Three-body two-pion exchange and strongly repulsive dispersive $\Lambda$NN interactions are also included. The trial wave function is constructed from pair- and triplet-correlation operators acting on a single particle determinant. These operators consist of central, spin, isospin, tensor and three- baryon potential components. A cluster Monte Carlo method is developed for noncentral correlations and is used with up to four-baryon clusters in our calculations. The three-baryon $\Lambda$NN force is discussed.Comment: 24 pages, 2 figs available by fax., for publication in Phys. Rev.