Miracle-dz/UniFAR-FTUs huggingface dataset:
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere

The sex related height difference in humans is thought to be caused mainly by two components: first, a hormonal component determined by the sex dimorphism of bioactive gonadal steroids, and, second, a genetic component attributed to a Y specific growth gene, GCY . 1–3 Despite extensive mapping attempts for this gene on the human Y chromosome,4–7 its precise position remains unknown. We have recently provided evidence that inappropriate cytogenetic methodology in the characterisation of Y chromosomal terminal deletions has led to some of the difficulties in elucidating the GCY critical region. In order to circumvent these problems, we have decided to consider only patients presenting de novo interstitial deletions for GCY analysis on the Y chromosome.8 This approach allows the assignment of GCY to a particular chromosomal interval without excluding the presence of X0 mosaicism and/or i(Yp) and idic(Yq11) chromosomes in patients with terminal deletions. Indeed, the direct comparison of overlapping interstitial deletions in seven adult males with normal height, one male with borderline height, and one patient with short stature resulted in the confirmation of a GCY critical interval between markers DYZ3 and DYS11. This region roughly encompasses 1.6-1.7 Mb of genomic DNA. To improve the resolution in the region of interest close to the centromere, we established additional new STS markers specific for this part of the chromosome using our bacterial artificial chromosome (BAC)/P1 derived artificial chromosome (PAC) contig. Molecular deletion analysis using these new Y chromosomal STSs allowed us to exclude almost all of the Y chromosomal long arm as the putative location of the GCY growth gene and to narrow down the critical interval to a genomic region of 700 kb. ### Selection of patients All nine patients are sterile and have deletions of either AZFa, AZFb, or AZFc or a combination thereof. They were otherwise …
Absorption Enhancing Excipients in Systemic Nasal Drug Delivery

Intranasal drug delivery is becoming an increasingly important form of drug administration for chronic and chronic-intermittent diseases. Important new applications in development include drugs for diabetes, osteoporosis, obesity, certain types of convulsive disorders, migraine headaches, symptomatic pain relief, nausea, and anxiety, among others. Transmucosal absorption across the nasal mucosa is generally limited to molecules under 1,000 Da in size. Systemic delivery of molecules larger than this requires formulation with a suitable transmucosal absorption enhancer. More than one hundred potential transmucosal absorption enhancing excipients have been tested to date. Nearly all have failed to be practical due to poor effectiveness or unacceptable toxicity to mucosal tissue. Alkylsaccharides, cyclodextrins, and chitosan's have emerged as the leading candidates for potential broad clinical applications and are allowing development of convenient, patient-friendly, needle free formulations of small molecule drugs, as well as peptide and protein drugs that can be administered at home, at work, or in other public and private settings outside of the doctor’s office or hospital environment.
Fibrinolytic parameters in patients undergoing total hip replacement: relationship with the development of asymptomatic deep vein thrombosis and diagnostic usefulness of venous occlusion.

BACKGROUND AND OBJECTIVE It has been suggested that impaired fibrinolytic activity contributes to deep vein thrombosis in orthopedic surgery. Studying the fibrinolytic system following venous occlusion has been proposed as a good method of detecting the risk of this postoperative complication. The objective of this work was to verify whether venous occlusion represents a reliable method of detecting an impaired fibrinolytic response after total hip replacement. METHODS Thirty-two consecutive patients undergoing total hip replacement were studied. Citrated blood samples were taken from each patient the day before surgery and on postoperative days 1, 3, and 7, before and after venous occlusion, in order to evaluate plasma levels of tissue plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1). All patients underwent bilateral phlebography 10 days after surgery. RESULTS Seven out of 32 patients (21.9%) developed deep venous thrombosis (DVT) according to the venographic test. After surgery, an increase in t-PA antigen levels was detected both in patients who developed DVT and in those who did not, with a significant increase on the first and seventh days after surgery only in the non-DVT group. After 10-min venous occlusion, t-PA antigen levels increased at all postoperative recordings in both groups of patients, but most significantly on days 1 and 7 after surgery. PAI-1 antigen plasma levels, when measured before venous occlusion, increased only in non-DVT patients on the seventh postoperative day. After venous occlusion, a difference was found between the two groups only postoperatively on day 7 with regard to PAI-1 levels. INTERPRETATION AND CONCLUSIONS According to our results, no impaired fibrinolytic response was found in DVT patients. In addition, venous stasis seems to give no further information with respect to basal values in the early detection of postoperative thromboembolic complications in orthopedic patients.
Phylogenetic Diversity of Marine Cyanophage Isolates and Natural Virus Communities as Revealed by Sequences of Viral Capsid Assembly Protein Gene g20

ABSTRACT In order to characterize the genetic diversity and phylogenetic affiliations of marine cyanophage isolates and natural cyanophage assemblages, oligonucleotide primers CPS1 and CPS8 were designed to specifically amplify ca. 592-bp fragments of the gene for viral capsid assembly protein g20. Phylogenetic analysis of isolated cyanophages revealed that the marine cyanophages were highly diverse yet more closely related to each other than to enteric coliphage T4. Genetically related marine cyanophage isolates were widely distributed without significant geographic segregation (i.e., no correlation between genetic variation and geographic distance). Cloning and sequencing analysis of six natural virus concentrates from estuarine and oligotrophic offshore environments revealed nine phylogenetic groups in a total of 114 different g20 homologs, with up to six clusters and 29 genotypes encountered in a single sample. The composition and structure of natural cyanophage communities in the estuary and open-ocean samples were different from each other, with unique phylogenetic clusters found for each environment. Changes in clonal diversity were also observed from the surface waters to the deep chlorophyll maximum layer in the open ocean. Only three clusters contained known cyanophage isolates, while the identities of the other six clusters remain unknown. Whether or not these unidentified groups are composed of bacteriophages that infect different Synechococcus groups or other closely related cyanobacteria remains to be determined. The high genetic diversity of marine cyanophage assemblages revealed by the g20 sequences suggests that marine viruses can potentially play important roles in regulating microbial genetic diversity.
Collaborating with a Muddy Road and an Ailing Forest: The Construction of Ecological Citizenship in San Francisco Libre, Nicaragua

This article explores the emergence of ecological citizenship in the Nicaraguan municipality of San Francisco Libre. After decades of dealing with economic, social and environmental risk, the inhabitants of the municipality’s communities began to enact a more empowering kind of citizenship by enrolling nonhumans including trees and legal texts in their struggles for development and justice. While this struggle is fraught with setbacks and complexities, it is apparent that those involved are beginning to move beyond nature-culture binaries, recognizing that political rights and ecological rights can and indeed must be simultaneously pursued. Drawing on fieldwork in the community and analysis of key documents, we outline the political responses and participatory processes engendered by economic and environmental risk that have taken place in San Francisco Libre in the past decade-and-a-half to frame the contours of a relational community forestry that enables a democratizing form of ecological citizenship to emerge.
Modes of engagement of immigrants with their home societies: types and measurements of engagement

ABSTRACT The objective of this article is to review how transnational engagement has been traditionally measured and then offer a proposal for measurements corresponding to how immigrants perceive their transnational practices. Based on the traditional conceptual model of immigrant transnationalism, a system of indicators was developed in accordance with a broad and integral view of the connection with their home societies. This system of indicators was applied to an Andean sample population residing in the Basque Country, Spain, and analysed using factor analysis to produce an empirical model of engagement from the traditional conceptual one. Results show the importance of the private aspect of the relationships with origin and the existence of a continuum in the immigrant connection with their home countries that ranges from the personal to the community. Moreover, two types of intensity of this connection stand out: the first suggests a mere interest in the place of origin while the second implies an active connection with their home countries, both personal and community based.
Pervasive rightward asymmetry shifts of functional networks in autism spectrum disorder.

IMPORTANCE Autism spectrum disorder (ASD) is a brain-based pervasive developmental disorder, which-by growing consensus-is associated with abnormal organization of functional networks. Several previous studies of ASD have indicated atypical hemispheric asymmetries for language. OBJECTIVE To examine the asymmetry of functional networks using a data-driven approach for a comprehensive investigation of hemispheric asymmetry in ASD. DESIGN, SETTING, AND PARTICIPANTS This cross-sectional study involved 24 children with ASD and 26 matched typically developing children at San Diego State University and the University of California, San Diego. Data from 10 children had to be excluded for excessive motion, resulting in final samples of 20 participants per group. MAIN OUTCOMES AND MEASURES Asymmetry indices of functional networks identified from independent component analysis of resting-state functional magnetic resonance imaging data. RESULTS Temporal concatenation independent component analysis, performed separately in each group, showed significant group differences in asymmetry indices for 10 out of 17 functional networks. Without exception, these networks (visual, auditory, motor, executive, language, and attentional) showed atypical rightward asymmetry shifts in the ASD group. CONCLUSIONS AND RELEVANCE Atypical rightward asymmetry may be a pervasive feature of functional brain organization in ASD, affecting sensorimotor, as well as higher cognitive, domains.
Extrastriate visual cortex reorganizes despite sequential bilateral occipital stroke: implications for vision recovery

The extent of visual cortex reorganization following injury remains controversial. We report serial functional magnetic resonance imaging (fMRI) data from a patient with sequential posterior circulation strokes occurring 3 weeks apart, compared with data from an age-matched healthy control subject. At 8 days following a left occipital stroke, contralesional visual cortical activation was within expected striate and extrastriate sites, comparable to that seen in controls. Despite a further infarct in the right (previously unaffected hemisphere), there was evolution of visual cortical reorganization progressed. In this patient, there was evidence of utilization of peri-infarct sites (right-sided) and recruitment of new activation sites in extrastriate cortices, including in the lateral middle and inferior temporal lobes. The changes over time corresponded topographically with the patient's lesion site and its connections. Reorganization of the surviving visual cortex was demonstrated 8 days after the first stroke. Ongoing reorganization in extant cortex was demonstrated at the 6 month scan. We present a summary of mechanisms of recovery following stroke relevant to the visual system. We conclude that mature primary visual cortex displays considerable plasticity and capacity to reorganize, associated with evolution of visual field deficits. We discuss these findings and their implications for therapy within the context of current concepts in visual compensatory and restorative therapies.
Accelerated gradient methods for total-variation-based CT image reconstruction

Total-variation (TV)-based Computed Tomography (CT) image reconstruction has shown experimentally to be capable of producing accurate reconstructions from sparse-view data. In particular TV-based reconstruction is very well suited for images with piecewise nearly constant regions. Computationally, however, TV-based reconstruction is much more demanding, especially for 3D imaging, and the reconstruction from clinical data sets is far from being close to real-time. This is undesirable from a clinical perspective, and thus there is an incentive to accelerate the solution of the underlying optimization problem. The TV reconstruction can in principle be found by any optimization method, but in practice the large-scale systems arising in CT image reconstruction preclude the use of memory-demanding methods such as Newton's method. The simple gradient method has much lower memory requirements, but exhibits slow convergence. In the present work we consider the use of two accelerated gradient-based methods, GPBB and UPN, for reducing the number of gradient method iterations needed to achieve a high-accuracy TV solution in CT image reconstruction. The former incorporates several heuristics from the optimization literature such as Barzilai-Borwein (BB) step size selection and nonmonotone line search. The latter uses a cleverly chosen sequence of auxiliary points to achieve a better convergence rate. The methods are memory efficient and equipped with a stopping criterion to ensure that the TV reconstruction has indeed been found. An implementation of the methods (in C with interface to Matlab) is available for download from this http URL We compare the proposed methods with the standard gradient method, applied to a 3D test problem with synthetic few-view data. We find experimentally that for realistic parameters the proposed methods significantly outperform the gradient method.
Volume 17 Differential

We have used RNase-protection analyses to study renin gene expression in oneand two-gene mouse strains. The RNase-protection assay is capable of discriminating between the transcripts from the different renin genes. In a two-gene strain containing Ren-\'and Ren-2, we demonstrate transcriptional activity from Ren-l-* in kidney, submandibular gland (SMG), testes, liver, brain and heart. Ren-2 is clearly expressed in kidney, SMG and testes. Similar analyses of one gene strains (containing Ren-l*only) show expression in kidney, SMG, testes, brain and heart. We cannot detect renin mRNA in the liver of these mice. Ren-\C and Ren-l-* thus display quite different tissue-specificities. In order to determine whether the different tissue-specificities of the highly homologous Ren-1*and Ren-1 genes are due to different frans-acting factors in the different mouse strains or to different cis-acting DNA elements inherent to the genes, we introduced a Ren-1 transgene (Ren-1») into a background strain containing only the Ren-l*gene. The transgene exhibits the same tissue-specificity as the Ren-1 gene of two-gene strains suggesting the presence of different ax-acting DNA elements in Ren-1*~ and Ren-l". INTRODUCTION The aspartyl protease renin catalyses the initial and rate-limiting step in the conversion of angiotensinogen to the vasoactive hormone angiotensin II and thus plays a key role in the regulation of blood pressure (1). The primary site of renin biosynthesis is the juxtaglomerular apparatus of the kidney. Mice are polymorphic for the number of renin genes: certain inbred strains (eg C57B1/6, CBA) harbour a single renin gene, Ren-1, whilst others (eg DBA/2J) contain two renin genes, Ren-1 and Ren-2. In this report, we term the Ren-\ gene of one-gene strains Ren-1 *~ and its homologue in two-gene animals Ren-l". In two-gene strains, the Ren-2 gene is situated approximately 20kb upstream of Ren-l D and both are transcribed in the same direction (2). The renin genes are located on chromosome 1 of the mouse (3). The presence of the Ren-2 gene correlates with high concentrations of renin mRNA in the submandibular gland (SMG), where Ren-2 expression is elevated approximately lOO-fold compared to that of the Ren-l*gene of one-gene strains (4). Renin expression in the SMG is positively controlled by androgens and thyroxine (5,6). SMG renin does not,
Dynamic configuration prefetching based on piecewise linear prediction

Modern systems demand high performance, as well as high degrees of flexibility and adaptability. Many current applications exhibit a dynamic and nonstationary behavior, having certain characteristics in one phase of their execution, that will change as the applications enter new phases, in a manner unpredictable at design-time. In order to meet the performance requirements of such systems, it is important to have on-line optimization algorithms, coupled with adaptive hardware platforms, that together can adjust to the run-time conditions. We propose an optimization technique that minimizes the expected execution time of an application by dynamically scheduling hardware prefetches. We use a piecewise linear predictor in order to capture correlations and predict the hardware modules to be reached. Experiments show that the proposed algorithm outperforms the previous state-of-art in reducing the expected execution time by up to 27% on average.
Safe Regression Test Selection Based on Program Dependence Graphs

Regression test selection is to select a subset of existing tests to run, so as to identify the possible faults in the modified program. A promising regression test selection technique needs to be safe, that is, to select tests from the original test suite that can expose faults in the modified program under controlled regression testing. Existing safe regression test selection techniques however may rerun some tests that do not expose faults. To address this problem, we present in this paper a new regression test selection technique based on program dependence graphs of a program and its modified version. Comparing with previous techniques, our technique can eliminate some unnecessary tests to rerun. We show the validity and feasibility of our approach through a running example.
Book Review: The Systematic Screening and Assessment Method: Finding Innovations Worth Evaluating (New Directions for Evaluation No. 125)

Review(s) of: The systematic screening and assessment method: finding innovations worth evaluating (New directions for evaluation No. 125), by Laura C Leviton, Laura Kettel Khan and Nicola Dawkins, Publisher/year: Jossey-Bass, San Francisco (an imprint of Wiley) and the American Evaluation Association (AEA), 2010, Extent/type: 123 pages, paperback, Price: A$37.95/NZ$42.99 from Wiley Australia which offers a 15% discount to AES members, ISSN: 1097-6736.
SWAN / SIOC : Aligning Scientific Discourse Representation and Social Semantics

SWAN/SIOC is an alignment of two Web ontologies that, taken together, represent Scientific Discourse in online communities at different levels of granularity (content items and discourse elements). The goal of this alignment is to make the discourse structure and component relationships much more accessible to computation, so that information can be navigated, compared and understood in a context far better than is currently possible, both across and within domains. This paper describes these two models and their alignment to support research in Health Care and Life Sciences, as well as an overview of projected future work on the topic.
PDZK 1 Regulates Two Intestinal Solute Carriers ( Slc 15 a 1 and Slc 22 a 5 ) in Mice

Gastrointestinal (GI) absorption of certain therapeutic agents is thought to be mediated by solute carrier (SLC) transporters, although minimal in vivo evidence has been reported. Here, we show key roles of postsynaptic density 95/disk-large/ZO-1 (PDZ) domain-containing protein, PDZK1, as a regulatory mechanism of two solute carriers, Slc15a1 (oligopeptide transporter PEPT1) and Slc22a5 (carnitine/organic cation transporter OCTN2) in mouse small intestine by using pdzk1 gene knockout (pdzk1 / ) mice. GI absorption of cephalexin, a substrate of PEPT1, after p.o. administration was delayed in pdzk1 / mice compared with wild-type mice. Absorption of carnitine, a substrate of OCTN2, was also decreased in pdzk1 / mice. Immunohistochemical analysis revealed the localization of both PEPT1 and OCTN2 at apical membrane of small intestinal epithelial cells in wild-type mice, whereas such apical localization was reduced in pdzk1 / mice, with a concomitant decrease in their protein levels assessed by Western blotting in intestinal brush-border membranes. Electron microscopy revealed localization of PEPT1 in intracellular vesicular structures in pdzk1 / mice. In addition, we first identified interaction between PEPT1 and PDZK1 in mouse small intestine and found that PDZK1 stimulates transport activity of PEPT1 by increasing its expression level in human embryonic kidney 293 cells. Taken together, the present findings provide direct evidence that PDZK1 regulates two intestinal SLC transporters in vivo as an adaptor protein for these transporters and affects oral absorption of their substrates. These findings also raise the possibility that intestinal absorption of the substrate drugs for PEPT1 and OCTN2 is governed by the protein network of these transporters and their adap-
Supporting I/O-intensive Workloads on the Cell Architecture

Recent advent of the asymmetric multi-core processors such as Cell Broadband Engine (Cell/BE) has popularized the use of heterogeneous architectures in High-End Computing. Data and I/O intensive workloads have largely been ignored in this domain. We take the first steps in supporting I/O intensive workloads on Cell and deriving some guidelines for optimizing the execution of I/O workloads on heterogeneous architectures. We explore various performance enhancing techniques for such workloads on an actual Cell/BE system. Among the techniques we explore, an asynchronous prefetching-based approach, which uses the PowerPC core of the Cell/BE for file prefetching and decentralized DMAs from the synergistic processing cores (SPE’s), improves the performance for I/O workloads that include an encryption/decryption component by 30.2%, compared to I/O performed naively from the SPE’s.
When events interact with business ethics

The article analyses the dynamics of the interaction between events and business ethics within organizations. Events comprise those unpredictable things that happen. When they do, organizationally embedded managers will be responsible for making sense of these events. By being responsible, they are enacting ethics in the choices that they make for dealing with them. Events always raise ethical considerations because they are non-routine rather than a strict repetition of existing repertoires. Under certain circumstances, which we illustrate with a theory of the event, drawing on the work of Gilles Deleuze, we are able to investigate the de/institutionalizing of ethics theoretically. We draw on the new economic sociology to discuss the conditions of ethical and event de/institutionalization. Finally, we conceptualize the linkage between micro and macro dimensions framing the dynamics of business ethics in interaction with events.