Miracle-dz/UniFAR-FTUs huggingface dataset:
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report

Abstract Background: Non-invasive prenatal diagnosis has found application in a limited number of genetic diseases due to the difficulty in detecting a few copies of fetal mutated sequences in the presence of a large excess of wild-type maternal alleles, even in the case of single-base mutations. Methods: We developed conditions for the enrichment of fetal mutated alleles in maternal plasma based on CO-amplification at lower denaturation temperature-PCR (COLD-PCR). In particular, we applied a full COLD-PCR protocol to the identification of a p.A87_G92del mutation in the TWIST1 gene causing craniosynostosis in a couple at risk for the disease. Results: The use of the COLD-PCR protocol coupled with direct sequencing enabled correct identification of the fetal paternally inherited mutated allele, in accordance with the result obtained on DNA extracted from chorionic villi. Conclusions: COLD-PCR proved to be a simple and powerful tool for the identification of minority mutated alleles even in the case of a moderately large deletion (18 bp) and confirmed to be very suitable for non-invasive prenatal diagnosis of a variety of genetic diseases.
Typing of Clinical Mycobacterium avium Complex Strains Cultured during a 2-Year Period in Denmark by Using IS1245

ABSTRACT In the present study restriction fragment length polymorphism analyses with the recently described insertion sequence IS1245 as a probe was performed with clinicalMycobacterium avium complex strains cultured in Denmark during a 2-year period. The overall aim of the study was to disclose potential routes of transmission of these microorganisms. As a first step, the genetic diversity among isolates from AIDS patients and non-human immunodeficiency virus (HIV)-infected patients was described. In addition, a number of isolates from nonhuman sources cultured during the same period were analyzed and compared to the human isolates. A total of 203 isolates from AIDS patients (n = 90), non-HIV-infected patients (n = 91), and nonhuman sources (n = 22) were analyzed. The presence of IS1245was restricted to Mycobacterium avium subsp.avium isolates. The majority of human isolates had large numbers of IS1245 copies, while nonhuman isolates could be divided into a high-copy-number group and a low-copy-number group. Groups of identical strains were found to be geographically widespread, comprising strains from AIDS patients as well as strains from non-HIV-infected patients. Samples of peat (to be used as potting soil) and veterinary samples were found to contain viableM. avium isolates belonging to genotypes also found in humans.
Evolution of Wheat streak mosaic virus: dynamics of population growth within plants may explain limited variation.

Like many other plant RNA viruses, Wheat streak mosaic virus (WSMV) sequence diversity within and among infected plants is low given the large number of virions produced. This may be explained by considering aspects of plant virus life history. Intracellular replication of RNA viruses is predominately linear, not exponential, which means that the rate at which mutations accumulate also is linear. Bottlenecks during systemic movement further limit diversity. Analysis of mixed infections with two WSMV isolates suggests that about four viral genomes participate in systemic invasion of each tiller. Low effective population size increases the role of stochastic processes on dynamics of plant virus population genetics and evolution. Despite low pair-wise diversity among isolates, the number of polymorphic sites within the U.S. population is about the same as between divergent strains or a sister species. Characteristics of polymorphism in the WSMV coat protein gene suggest that most variation appears neutral.
1 2 Fe b 20 13 HFSP : The Hadoop Fair Sojourn Protocol

This work presents the HFSP scheduler, which implements a size-based scheduling discipline for Hadoop. While the benefits of size-based scheduling disciplines are well recognized in a variety of contexts (computer networks, operating systems, etc.), their practical implementation for a system such as Hadoop raises a number of important challenges. In HFSP we address issues related to job size estimation, resource management and study the effects of a variety of preemption strategies. Although the architecture underlying HFSP is suitable for any size-based scheduling discipline, in this work we revisit and extend the Fair Sojourn Protocol, which solves many problems related to job starvation that affect FIFO, Processor Sharing and a range of size-based disciplines. Our experiments, in which we compare HFSP to standard Hadoop schedulers, pinpoint at a significant decrease in average job sojourn times – a metric that accounts for the total time a job spends in the system, including waiting and serving times – for realistic workloads that we generate according to production workload traces available in the literature.
Monitoring Behavior in Manual and Automated Scheduling Systems

Abstract Human monitoring behavior in manual and automated scheduling systems is examined through an experiment that required the subjects to perform scheduling and monitoring tasks. The task required the assignment of a series of incoming customers to the shortest of three parallel service lines. The subject was either in charge of the customer assignment (Manual Mode) or was monitoring an automated system performing the same task (Automatic Mode). In both cases, the subjects were required to detect the nonoptimal assignments that they or the computer had made. The results showed better error detection performance and lower subjective workload in the automatic mode. The subjects in the manual mode were both biased against declaring their own assignment errors and less sensitive to their misassignments. Results are compared with previous findings of monitoring behavior in manual control systems, and are discussed in terms of human decision making, reliability, workload and system design.
High-Sensitivity C-Reactive Protein Is Independently Associated With Arterial Stiffness in Women With Metabolic Syndrome

Background:Metabolic syndrome (MetS) is associated with higher incidences of cardiovascular events and with increased mortality from coronary heart disease. There is increasing evidence that MetS presents as a proinflammatory and prothrombotic state. Objectives:The purposes of this study were to investigate the relationships among adiponectin (a marker for adipocytokines), high-sensitivity C-reactive protein (hs-CRP, a marker for inflammation), and brachial-ankle pulse-wave velocity (ba-PWV, a marker for arterial stiffness) in MetS and to identify predictors of ba-PWV, which indicates subclinical atherosclerosis. Methods:The present study is a cross-sectional, secondary analysis of data collected as part of a longitudinal, randomized controlled trial that tested the effectiveness of a therapeutic lifestyle modification for Korean women with MetS (N = 52). We used the definition for MetS suggested by the National Cholesterol Education Program Adult Treatment Panel III. Results:Adiponectin was negatively correlated with hs-CRP (r = −0.316, P = .027) and ba-PWV (r = −0.284, P = .048), and hs-CRP was positively correlated with ba-PWV (r = 0.341, P = .016). Women with high hs-CRP and low adiponectin levels also had greater ba-PWV levels (P = .041). Levels of hs-CRP were independently associated with ba-PWV after adjusting for age, body mass index, and number of MetS components, whereas no independent association was identified for adiponectin. Conclusion:Levels of hs-CRP may provide important prognostic information in terms of future cardiovascular risk in women with MetS.
Hypoxia releases a vasoconstrictor substance from the canine vascular endothelium.

Experiments were designed to determine the role of the endothelium in the facilitation by anoxia of contractile responses of isolated coronary arteries. Rings and strips of canine coronary arteries, with or without endothelium, were suspended for isometric tension recording in modified Krebs‐Ringer bicarbonate solution. To determine the release of a vasoactive substance(s) from the endothelial cells, strips without endothelium were layered with strips containing endothelium. In rings and in layered preparations with endothelium, anoxia (95% N2‐5% CO2) augmented contractile responses to prostaglandin F2 alpha. Hypoxia (10 or 5% O2) caused contractions in the presence of indomethacin. Removal of the endothelium abolished the anoxic facilitation, and the hypoxic contractions. Inhibitors of cyclo‐oxygenase, lipoxygenase or phospholipase A2 or of adrenergic, serotonergic and histaminergic receptors did not prevent the response to anoxia. Likewise, inhibitors of the endothelium‐derived factor(s) (quinacrine, phenidone and methylene blue) did not affect the anoxic facilitation. Hypoxia and anoxia caused contraction of coronary arteries without endothelium when layered with femoral arteries and veins with endothelium. Anoxic facilitation was observed in femoral arteries, but not in femoral veins, with endothelium. These experiments indicate that hypoxia and anoxia cause the release of a diffusible vasoconstrictor substance(s) from endothelial cells. The sensitivity of smooth muscle of different anatomical origin to the facilitatory mediator(s) varies.
Medial Wall Orbital Reconstruction using Unsintered Hydroxyapatite Particles/Poly L-Lactide Composite Implants

Background Poly-L-lactide materials combined with hydroxyapatite (u-HA /PLLA) have been developed to overcome the drawbacks of absorbable materials, such as radiolucency and comparably less implant strength. This study was designed to evaluate the usefulness of u-HA/PLLA material in the repair of orbital medial wall defects. Methods This study included 10 patients with pure medial wall blow-out fractures. The plain radiographs were taken preoperatively, immediately after, and 2 months after surgery. The computed tomography scans were performed preoperatively and 2 months after surgery. Patients were evaluated for ease of manipulation, implant immobility, rigidity and complications with radiologic studies. Results None of the patients had postoperative complications, such as infection or enophthalmos. The u-HA/PLLA implants had adequate rigidity, durability, and stable position on follow-up radiographic studies. On average, implants were thawed 3.4 times and required 14 minutes of handling time. Conclusion The u-HA/PLLA implants are safe and reliable for reconstruction of orbital medial wall in terms of rigidity, immobility, radiopacity, and cost-effectiveness. These thin yet rigid implants can be useful where wide periosteal dissection is difficult due to defect location or size. Since the u-HA/PLLA material is difficult to manipulate, these implants are not suitable for use in complex 3-dimensional defects.
The Hydroxylation of Vitamin D on C25 in Thyrotoxicosis The Role of the Activity of Microsomal Liver Enzymes

Vitamin D3 after its entrance in the organism undergoes hydroxylation on C-25 carbon atom by the action of microsomal liver enzymes giving the metabolite 25 hydroxyvitamin D3 (25OHD3). The function of microsomal liver enzymes is influenced in some specified states by hormones or drugs. It has approved that thyroxin is a potent stimulator of these enzymes while allopurinol suppresses their function. The aim of this issue is to examine 25OHD3 plasma levels in thyrotoxic subjects and in those pretreated with allopurinol on the base of the afford mentioned data. In a first phase 25OHD3 plasma levels were estimated in thyrotoxic subjects against euthytoid healthy controls. In a second phase lmg vitamin D3 was injected intravenously (i.v.) in thyrotoxic subjects and in healthy euthyroid controls. 25OHD3 plasma levels were measured before and in post injection period in six hours intervals for 48 hours. In a third phase a couple of subjects one thyrotoxic and one euthyroid healthy control pretreated both with allopurinol injected lmg of vitamin D3 i.v. In all studied subjects 25OHD3 plasma levels were measured before and in post injection period in six hours intervals for 48 hours. The pre and post injection 25OHD3 plasma levels measured the size of activity of liver enzyme responsible for bioactivation of vitamin D3. In the first phase was indicated that 25OHD3 plasma levels were lower in thyrotoxic subjects comparing with that of euthyroid healthy controls (p 3 in thyrotoxic subjects was 2,5 to 8 times faster comparing with euthyroid healthy controls. In the third phase was shown that allopurinol decreases the activity of liver enzymes function as regard the bioactivation of vitamin D3. The bioactivation of vitamin D3 is accelerated in thyrotoxicosis compared with that in euthyroid state. This phenomenon produces low 25OHD3 plasma levels in thyrotoxic subjects which initially may be normal or slightly increased depended from the vitamin D3 status in the thyrotoxic subjects. By continuous stimulatory action of increased thyroid hormones on liver enzymes the 25OHD3 plasma levels earlier or later decline in levels of hypo-or avitaminosis D3. The previously described biological events may explain the decreased intestinal calcium absorption of vitamin D3 and the osteomalacic component found in a percentage of thyrotoxic bone histology. For the blocking effects of allopurinol on liver enzymes function and possibly of other pharmaceutical products in relation to vitamin D3 bioactivation, available data are still lacking.
Anatomic variations of the branches of the aortic arch in a Peruvian population.

PURPOSE Previous publications from two countries in South America found one anatomical variation not previously reported in the rest of the world, which in turn give some clues with regard to a racial difference. The objective of the present study is to describe variations in the anatomical distribution of the branches of the aortic arch in a Peruvian population. OBJECTIVE To describe variations in the anatomical distribution of the branches of the aortic arch in a Peruvian population. METHODS A descriptive study of patients who underwent a tomography angiography of the aorta was performed. We analyzed the reports that showed the description of the variations of the branches of the aortic arch based on the eight types currently described in the literature. RESULTS From 361 analyzed reports, 282 patients (78.12%) had a normal aortic arch configuration (type I; aortic arch gives rise to the brachiocephalic trunk, left common carotid and left subclavian arteries); followed by type II (left common carotid artery as a branch of the aorta) with 41 patients (11.36%); and type IX (common ostium for the brachiocephalic trunk and the left common carotid artery) with 25 patients (6.93%). The latter and two other types are new variations. CONCLUSION Aortic Arch Type I, Type II and Type IX were the most frequent variations in this Peruvian study. Additionally, we also found two more new types that have not been previously described in the literature. Further investigation regarding these variations is needed in order to assess a racial factor in South America and possible relationships with clinical or surgical events.
Outcome analysis of invasive aspergillosis in hematologic malignancy and hematopoietic stem cell transplant patients: the role of novel antimold azoles.

BACKGROUND Invasive aspergillosis (IA) continues to be a leading cause of morbidity and mortality in hematologic malignancy (HM) patients. We evaluated the prognostic factors for IA in HM patients. METHODS In this retrospective study, we included all HM patients diagnosed with proven or probable IA between June 1993 and June 2008. RESULTS A total of 449 HM patients were analyzed, the majority of which (75%) had underlying leukemia. Multivariate logistic regression analysis showed that neutropenia for more than two weeks during IA, steroid use, and intensive care admission were independently associated with failure to respond to antifungal therapy, as well as increased IA-attributable mortality (all p-values < .01). Antifungal therapy with an antimold azole-containing regimen (voriconazole or posaconazole) was also independently associated with improved response to treatment, as well as decreased IA-attributable mortality (all p-values < .0001). Survival analysis showed that primary or salvage therapy with a regimen that contained antimold azoles was significantly associated with improved survival (p < .001). CONCLUSIONS In HM patients, persistent neutropenia and the need for intensive care are associated with failure to respond to antifungal therapy. Use of novel antimold azoles, either as primary or salvage therapy, improves the overall outcome and IA-attributable death of HM patients with IA.
Simulate the effect of trapped charges and trap cross-section on aging process

The developed DC space-charge life model has been used to investigate the effect of trap cross-sections and trapped charges on the aging process in polymers. The experiment was performed using a two-dimensional grid that consists of multiple squares with micro dimensions that are treated as isolated regions. This grid was used to represent the evolution of damage structures during the aging process. Similar conditions to the experimental ones were applied to the simulations in terms of the applied fields and ambient temperature. During the aging process of both investigated parameters, most of the isolated regions at low electric field are damaged and consequently the damage path direction between the electrodes is significantly affected. At the end of the aging period, acceleration of the damage path increases rapidly with increasing electric field, in contrast to the low electric field. Based on the damaged regions, it was possible to extract a threshold field from the plot of electric field versus damaged regions during aging. The simulations undertaken by varying either of the parameters gave a different lifetime to the experimental results and this is supported by physical interpretations.
SYMPOSIUM ON THE PHYLLOCHRON: Importance of the Phyllochron in Studying Development and Growth in Grasses

The phyllochron, which is defmed as the interval between similar growth stages of successive leaves on the same culm, has been used extensively to describe and understand development of grasses. The purpose of this paper is to introduce seven papers presented as part of the symposium Understanding Development and Growth in Grasses: Role of the Phyllochron Concept. Environmental (temperature, water, and day length) factors and genetics affect the duration of the phyllochron. The following seven papers broaden the disclwion of these topics and present new concepts about how the environment and genetics impact the relationship between leaf appearance and whole
Retrovirus-induced spongiform encephalopathy: the 3'-end long terminal repeat-containing viral sequences influence the incidence of the disease and the specificity of the neurological syndrome.

Using chimeric murine leukemia viruses (MuLVs) constructed in vitro with parental viral genomes from the neurotropic Cas-BR-E MuLV and the nonneurotropic amphotropic 4070-A MuLV, we previously mapped the paralysis-inducing determinant of Cas-BR-E MuLV within a pol-env region. To assess the role of the long terminal repeats (LTRs) in influencing the neurological disease, we constructed another chimeric MuLV (pNEMO-1)m harboring the gag-pol-env from Cas-BR-E MuLV and the LTR region from the strongly T-cell tropic Moloney MuLV. Although the Cas-BR-E MuLV induced mainly nonthymic leukemia, pNEMO-1 MuLV induced a thymic form of leukemia, as the parental Moloney MuLV. The pNEMO-1 MuLV induced neurological diseases less frequently than Cas-BR-E MuLV when inoculated intraperitoneally into NIH/Swiss, SIM.S, and SWR/J mice. However, it induced neurological disorders more frequently and with a shorter latency than Cas-BR-E MuLV when inoculated intrathymically. Most mice with a neurological disorder induced with pNEMO-1 MuLV showed a new clinical syndrome not usually seen with the parental Cas-BR-E MuLV: They had no lower limb paralysis but were excessively tremulous, spastic, and immobile. The topographical distribution of the spongiform degeneration in the brain of mice with this new syndrome was different from that seen in mice with lower limb paralysis induced by Cas-BR-E MuLV. These results indicate that the 1.0-kilobase-pair Cla I-Pvu I LTR-containing fragment harbors sequences influencing the incidence and the clinical manifestation of the neurological disease and suggest a specificity of LTR sequences for a new tissue (brain).
Impact of Entertainment Motivational Drivers on User Acceptance of Online Social Network Banner Advertising: A Gratification Perspective

Abstract Social media has phenomenally changed the communication landscape. Particularly social network sites have received enormous popularity and user acceptance globally. The business model of many social network sites is based on advertising. The survival of these social network sites depends on the user acceptance of advertising appearing on these websites. Users usually accept the advertising which is consistent with their motivations for using social network sites. The current study examines the underlying dimensions of entertainment motivation for using social network sites and their impact on user acceptance of social network advertising. Analysis of data from 450 university students show entertainment motivation for using social network sites a multidimensional (SNSs) construct consisting of enjoyment, social escapism, relaxation and pass time factors. Furthermore, the results exhibit that SNSs entertainment motivation partially impacts user acceptance of social network advertising.
About the House: Lévi-Strauss and Beyond

1. Introduction Janet Carsten and Stephen Hugh-Jones 2. Houses and hierarchies in island Southeast Asia Roxana Waterson 3. The resurrection of the house amongst the Zafimaniry of Madagascar Maurice Bloch 4. The hearth-group, the conjugal couple and the symbolism of the rice meal among the Kelabit of Sarawak Monica Janowski 5. Houses in Langkawi: stable structures or mobile homes? Janet Carsten 6. Having your house and eating it: houses and siblings in Ara, South Sulawesi Thomas Gibson 7. The Lio house: building, category, idea, value Signe Howell 8. Houses and hierarchy: the view from a South Moluccan society Susan McKinnon 9. Houses, places and people: community and continuity in Guiana Peter Riviere 10. The houses of Mebengokre (Kayapo) of Central Brazil: a new door to their social organization Vanessa Lea 11. Inside-out and back-to-front: the Maloca and the house in northwest Amazonia Stephen Hugh-Jones.
Increase in the proportion of fast-twitch muscle fibres by sprint training in males.

Fifteen male physical education students were studied. The subjects trained for 4-6 weeks, 2-3 days per week, on a mechanically braked bicycle ergometer. A training session consisted of repeated 30-s 'all-out' sprints on a Wingate bicycle ergometer, on which the brake band of the flywheel was loaded with 75 g kg-1 body wt, with rest periods of 15-20 min between consecutive sprints. Thigh muscle biopsies were taken before and after the training period and were analysed for fibre types using a myofibrillar ATPase stain. The proportion of type I fibres decreased from 57 to 48% (P less than 0.05) and type IIA fibres increased from 32 to 38% (P less than 0.05). This study indicates that it is possible to achieve a fibre type transformation with high-intensity training. The effect of two-legged 'sprint' training on muscle fibre type composition may be related to a changed pattern of muscle fibre activation (e.g. an increased stimulation frequency). A change in fibre activation frequency may induce an increased synthesis of type II fibre myosin (fast myosin). Hormonal influences such as enhanced adrenergic stimulation of the muscle fibres cannot be excluded as a contributing factor, however.