Miracle-dz/UniFAR-FTUs huggingface dataset:
Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis

Mosaic variegated aneuploidy (MVA) is a rare condition characterized by multiple trisomies, rarely monosomies, and a non‐specific phenotype including microcephaly, growth and mental retardation, mild malformations, and an increased risk of malignancy. We describe a patient with MVA in whom trisomy 19 mosaicism was originally suspected. The patient was the product of an uncomplicated term pregnancy and delivery. Significant findings were mental retardation, obesity, mild epicanthal folds, tapering fingers, relatively small hands and feet, alternating exotropia, nasal speech limited to short phrases, and generalized hypotonia. There is no family history for birth defects, mental retardation, or consanguinity. The initial peripheral blood chromosome study showed trisomy 19 in 4 of 31 metaphase cells. Because mosaic trisomy 19 is rare, the study was extended to 100 cells, wherein two cells with trisomy 8 were identified. A second blood karyotype was obtained and found to be 47,XX,+8[3]/47,XX,+19[3]/47,XX, +18[2]/47,XX,+9[1]/46,XX[91]. Skin fibroblast chromosome studies revealed a 46,XX karyotype in 120 cells examined. There was no evidence of premature centromere separation. Mutations in the BUB1B gene that encodes a key mitotic spindle checkpoint protein have been described in MVA; however, no mutations of this gene were identified in our patient. This case illustrates the importance of considering other possibilities when confronted with an extremely rare diagnosis such as mosaic trisomy 19. In addition, it shows the importance of not simply interpreting a low percentage of multiple aneuploidies as cell culture artifact, because an additional work‐up to rule out MVA may be warranted since this diagnosis is associated with an increased risk of malignancy. © 2007 Wiley‐Liss, Inc.
Three-tiered-copayment drug coverage and use of nonsteroidal anti-inflammatory drugs.

BACKGROUND Previous studies of 3-tier formularies are rare, although the evidence suggests that their cost-sharing structure reduces overall drug spending. However, it is unclear how incentive-based formularies affect the selection of medications with safety advantages, or restrict the access that high-risk populations have to recommended therapies in the higher tiers. This study was designed to determine whether 3-tier formularies influence the use of nonsteroidal anti-inflammatory drugs (NSAIDs) in a population of patients with arthritis. METHODS This retrospective study used the 2000 MarketScan Research Database, which contains person-level claims data for employer-sponsored health plans. The sample for this study consisted of 20 868 individuals treated for osteoarthritis or rheumatoid arthritis and using NSAIDs while enrolled in tiered drug plans (n = 32). The likelihood of any use of cyclo-oxygenase (COX-2)-selective inhibitors was determined as a function of tiered drug plan coverage, adjusting for other person-level and plan-level covariates. RESULTS Use of COX-2-selective inhibitors decreased (63.0% vs 53.6% vs 41.6%, respectively) and use of generic NSAIDs increased (37.7% vs 40.7% vs 55.7%, respectively) as formularies incorporated 1, 2, and 3 tiers. Enrollees in 3-tier plans with arthritis and serious gastrointestinal comorbidities (odds ratio, 0.51; 95% confidence interval, 0.40-0.66) were significantly less likely to use COX-2-selective inhibitors compared with patients in 1-tier plans. CONCLUSIONS Three-tier formularies appear to reduce the use of COX-2-selective inhibitors among all patients with arthritis, even those at risk of experiencing gastrointestinal complications from using nonselective NSAIDs. These findings are among the first to suggest that tiered-copayment drug plans may be influencing the selection of medications beyond generic and branded products.
Novel hybrid relay and code selection protocol

In this paper, a novel hybrid relay selection and coding protocol for cooperative communication is proposed. The proposed protocol prevents the reaching to an error floor with minimal sacrificing from the full diversity for any number of mobile relays. In the new protocol, the relays transmit their source-relay channel information to the destination with one bit and the destination informs the source and the relays about the selected balanced code and the selected relays with few bits of feedback. As a benchmark for comparison we consider distributed space time block codes (DSTBC). Unfortunately, DSTBC perform poorly when source-relay channels have low SNR, an error floor is reached. Detailed computer simulations show that, in our proposed protocol, the occurrence of the error floor shifts considerably to higher SNR values.
Complex Dynamics of Projective Synchronization of Chua Circuits with Different Scrolls

In this paper, the dynamics mechanism of the projective synchronization of Chua circuits with different scrolls is investigated analytically through the theory of discontinuous dynamical systems. The analytical conditions for the projective synchronization of Chua circuits with chaotic motions are developed. From these conditions, the parameter characteristics of the projective synchronization of Chua circuits with different scrolls are discussed, and the corresponding parameter maps and the invariant domain for such projective synchronization of Chua circuits are presented. Illustrations for partial and full projective synchronizations of the Chua circuits are given. The projective synchronization of Chua circuits is implemented experimentally, and numerical and experimental results are compared.
Analyse et détection de logiciels de rançon

La these s'interesse aux logiciels de rancon, presente une plateforme d'analyse automatique et propose des contre-mesures. Nos contre-mesures sont concues pour etre temps reel et deployees sur une machine, c'est-a-dire ''End-Hosts''. En 2013 les logiciels de rancon font de nouveau parler d'eux, pour finalement devenir une des menaces les plus serieuses a partir de 2015. Un etat de l'art detaille des contre-mesures existantes est fourni. On peut ainsi situer les contributions de cette these par rapport a la litterature. Nous presentons egalement une plateforme d'analyse automatique de logiciels malveillants composee de machines nues. L'objectif est de ne pas alterer le comportement des echantillons analyses. Une premiere contre-mesure basee sur l'utilisation d'une librairie cryptographique par les logiciels de rancon est proposee. Celle-ci peut etre facilement contournee. Nous proposons donc une seconde contre-mesure generique et agnostique. Cette fois, des indicateurs de compromission sont utilises pour analyser le comportement des processus sur le systeme de fichiers. Nous detaillons comment de maniere empirique nous avons parametre cette contre-mesure pour la rendre~: utilisable et efficace. Un des challenges de cette these etant de faire concilier performance, taux de detection et un faible taux de faux positifs. Enfin, les resultats d'une experience utilisateur sont presentes. Cette experience analyse le comportement des utilisateurs face a une menace. En derniere partie, nous proposons des ameliorations a nos contributions mais aussi des pistes a explorer.
Malphite: A convolutional neural network and ensemble learning based protein secondary structure predictor

We developed a convolution neural networks (CNN) and ensemble learning based method, called Malphite, to predict protein secondary structures. Maphite has three sub-models: the 1st CNN, PSI-PRED and the 2nd CNN. The 1st CNN and PSI-PRED are used to predict the initial secondary structure based on the position specific scoring matrix generated from PSIBLAST. The 2nd CNN performs ensemble learning by combining the prediction result of the 1st CNN and PSI-PRED and generate the final predictions. Malphite achieved a Q3 score of 82.3% and 82.6% for independently built dataset of 400 and 538 proteins respectively, and 82.6% ten-fold-cross validated accuracy for a dataset of 3000 proteins. In addition, Malphite accomplished a remarkable Q3 score of 83.6% for 122 targets from CASP10 (Critical Assessment of protein Structure Prediction), surpassing any secondary structure prediction technique to date. For all four datasets, Malphite consistently makes 2% more accurate prediction than PSI-PRED, which is a significantly step towards the estimated upper limit of protein secondary structure prediction accuracy of 90%.
Comprehensive systematic review of evidence on developing and sustaining nursing leadership that fosters a healthy work environment in healthcare.

OBJECTIVES The objective of this review was to appraise and synthesise the best available evidence on the feasibility, meaningfulness and effectiveness of nursing leadership attributes that contribute to the development and sustainability of nursing leadership to foster a healthy work environment. INCLUSION CRITERIA This review considered quantitative and qualitative research papers that addressed the feasibility, meaningfulness and effectiveness of developing and sustaining nursing leadership to foster a healthy work environment in healthcare. Papers of the highest level of evidence ratings were given priority. Participants of interest were leaders and those who were affected by leadership, specifically staff and patients. Interventions of interest including positive leadership attributes, as well as system and policy constructs, that impact on the development and sustainability of nursing leadership within the healthcare environment were considered in the review. SEARCH STRATEGY The search strategy sought to find both published and unpublished studies and papers, limited to the English language. An initial limited search of MEDLINE and CINAHL was undertaken followed by an analysis of the text words contained in the title and abstract, and of the index terms used to describe the paper. A second extensive search was then undertaken using all identified key words and index terms. METHODOLOGICAL QUALITY Each paper was assessed by two independent reviewers for methodological quality prior to inclusion in the review using an appropriate critical appraisal instrument from the System for the Unified Management, Assessment and Review of Information (SUMARI) package. RESULTS A total of 48 papers, experimental, qualitative and textual in nature, were included in the review. The majority of papers were descriptive and examined the relationships between leadership styles and characteristics and particular outcomes, such as satisfaction. Because of the diverse nature of these papers meta-analysis of the results was not possible. For this reason, this section of the review was presented in narrative form. The qualitative and textual papers were analysed using The Joanna Briggs Institute-Qualitative Assessment and Review Instrument and The Joanna Briggs Institute-Narrative, Opinion and Text Assessment and Review Instrument. The process of meta-synthesis embodied in these programs involves the aggregation or synthesis of findings or conclusions. Eight syntheses were derived with key themes related to collaboration, education, emotional intelligence, organisational climate, professional development, positive behaviours and qualities and the need for a supportive environment. CONCLUSION A combination of leadership styles and characteristics was found to contribute to the development and sustainability of a healthy work environment. The current work conducted in this area provides a solid foundation for future directions in research.
Obstacles to Bottom‐Up Implementation of Marine Ecosystem Management

Abstract: Ecosystem management (EM) offers a means to address multiple threats to marine resources. Despite recognition of the importance of stakeholder involvement, most efforts to implement EM in marine systems are the product of top‐down regulatory control. We describe a rare, stakeholder‐driven attempt to implement EM from the bottom up in San Juan County, Washington (U.S.A.). A citizens advisory group led a 2‐year, highly participatory effort to develop an ecosystem‐based management plan, guided by a preexisting conservation‐planning framework. A key innovation was to incorporate social dimensions by designating both sociocultural and biodiversity targets in the planning process. Multiple obstacles hindered implementation of EM in this setting. Despite using a surrogate scheme, the information‐related transaction costs of planning were substantial: information deficits prevented assessment of some biodiversity targets and insufficient resources combined with information deficits prevented scientific assessment of the sociocultural targets. Substantial uncertainty, practical constraints to stakeholder involvement, and the existence of multiple, potentially conflicting, objectives increased negotiation‐related costs. Although information deficits and uncertainty, coupled with underinvestment in the transaction costs of planning, could reduce the long‐term effectiveness of the plan itself, the social capital and momentum developed through the planning process could yield unforeseeable future gains in protection of marine resources. The obstacles we identified here will require early and sustained attention in efforts to implement ecosystem management in other grassroots settings.
Integrating Technology Obsolescence Considerations Into Product Design Planning

Technology life cycles affect a product manager’s ability to sustain systems through their manufacturing and field lives. The lack of availability of critical parts and technologies poses a challenge not only to the acquisition community, but to customers of products that must be maintained for long periods of time. Technology obsolescence has an especially serious impact on systems that have significant electronics content because electronic parts are quickly obsoleted in favor of newer, higher performance components. In this study, market availability data was analyzed for operational amplifiers, a technology integral to most electronic products, and for flash memory devices. Procurement lifetimes are shown to have shrunk since operational amplifiers emerged on the market. Algorithms for forecasting electronic part obsolescence are proposed and the ramifications of electronic part obsolescence on product design planning are discussed.Copyright © 2007 by ASME
Bacterial Pneumonia in the Elderly: The Observations of Sir William Osler in Retrospect

Pneumonia and influenza constitute the leading infectious cause of death and the fourth most common cause of death of elderly persons. ’ By the end of the century there will be an estimated 30 million people over 65 years of age in the United States.2 An intense interest is developing in the special characteristics of pneumonia and other infectious diseases in elderly p a t i e n t ~ , ~ ~ but it has been long recognized that the pneumonia is a different disease in the aged than it is in the younger adult. In fact, recent data about pneumonia in elderly patients confirms many of the observations of Sir William Osler as described in his Principles and Practice of Medicine in 1892. The elderly patient with pneumonia is more likely to develop bacteremia’ and complications such as empyema and meningitis, and is more likely to die from the diseases. 1,8 Osler recognized this increased mortality. Quoting the work of Hadden, McKenzie, and Ord in the Boston Medical and Surgical Journal, 1889, he described a rising rate of mortality from pneumonia with age22 per cent of patients in their third decade die from the disease, 30 per cent in the fourth, 47 per cent in the fifth, 51 per cent in the sixth, and 65 per cent in the seventh decade. Osler stated, “Pneumonia is the special enemy of old age. In the aged, chances are against recovery. So fatal is it in this group that it has been called the natural enemy of the old man. ”g Osler recognized that both age and its associated illnesses-“chronic Bright’s disease, diabetes, and the chronic affections of the nervous system”-predisposed to pneumonia. “It is not improbable that . debility lowers the vitality and renders the individual susceptible. ” This susceptibility of the elderly to pneumonia is becoming better understood in the context of our knowledge of cell-mediated immunity and antibody response. Only recently have the abnormalities of cell-mediated and humoral immunity in elderly patientslO and the failure to respond optimally to pneumococcal vaccines” become recognized. We have come to further ap-
Hyperhomocysteinemia in patients with stasis dermatitis and ulcer: A novel finding with important therapeutic implications

Background: Although homocysteine (Hcy) has profound effects concerning vascular lesions and thrombosis, it has not previously been investigated in patients with stasis dermatitis and ulcer. Objective: To evaluate plasma Hcy levels in patients with stasis dermatitis and ulcer. Methods: A total of 25 patients (17 male, eight female; mean age of 36 ± 5.97 years) with stasis dermatitis, 40 patients with stasis ulcer (27 male, 13 female; mean age of 38.5 ± 7.96 years) and 35 healthy control individuals (25 male, 10 female; mean age of 36.9 ± 6.49 years) were included in this study. Patients taking vitamin supplements or patients with folic acid or vitamin B12 deficiency, diabetes mellitus, chronic hepatitis, renal failure and chronic alcoholism which might affect Hcy levels were excluded from the study. Results: Hcy levels were found to be elevated in patients with stasis dermatitis (p = 0.00) and stasis ulcer (p = 0.00) compared to healthy controls with a median (range) of 19.1 µmol/l (15–28), 18.98 µmol/l (15–29), and 8.1 µmol/l (5–12.2), respectively. There was no statistically significant difference in Hcy level in patients with stasis dermatitis and ulcer (p = 0.877). Conclusion: As hyperhomocysteinemia can be treated by selected vitamin supplementation even in patients with normal serum vitamin concentrations, ulcer formation might be prevented by lowering Hcy in the clinical stage of stasis dermatitis.
New results on the physics of THz gyrotrons

Basic wave-particle interaction dynamics from linear to chaotic regimes is studied in detail both experimentally and theoretically on a frequency tunable gyrotron developed for DNP-NMR spectroscopy applications and generating THz radiation in continuous mode (150W) at 260GHz. The non-linear dynamics associated to the wave-particle interaction is dominated by self-consistent effects on the longitudinal profile of a given single transverse cavity-mode TEm,p. This study covers a wide range of control parameters from traveling wave tube (gyro-TWT) to gyro-backward wave oscillator (gyro-BWO) like interactions. The route to chaos via a period doubling cascade dynamics is experimentally observed and is supported by numerical simulations. In presence of phase-locked side-bands a novel regime characterized by the generation of nanosecond pulses has been experimentally identified. This novel regime is consistent with numerical simulations and may open up new applications for gyrotrons.
EFICIÊNCIA DO LODO ATIVADO EM FLUXO CONTÍNUO PARA TRATAMENTO DE ESGOTO

O tratamento biologico por lodos ativados e atualmente o mais utilizado para a depuracao de efluentes sanitarios e industriais caracterizados por contaminacao de carga orgânica e produtos nitrogenados. Este sistema de tratamento de efluentes e largamente utilizado por se tratar de um sistema com baixo custo de investimento e alta taxa de eficiencia. O sistema e composto de um tanque pulmao, para homogeneizacao das cargas, um tanque de aeracao, responsavel pela formacao dos microorganismos ativos (degradacao biologica), um decantador, utilizado para separar os solidos suspensos do efluente tratado e um tanque de contato para a desinfeccao do efluente tratado com o objetivo de remocao das bacterias patogenicas. Neste trabalho esta apresentado um estudo de caso de uma estacao de tratamento de esgoto projetada para atender 400 pessoas, atraves do sistema de lodo ativado com aeracao convencional e em fluxo continuo. Foi comprovado, por meio do monitoramento analitico, que o lodo ativado proporciona uma eficiencia no tratamento entre 95 e 98%, reduzindo as cargas poluidoras, o que, na maioria das vezes, fornece condicoes de reaproveitamento da agua.
Urokinase gene 3'-UTR T/C polymorphism is not associated with bladder cancer

Urokinase degrades basement proteins and is hypothesized to play a role in cancer progression. We investigated the hypothesis of C/T polymorphism in the 3'-untranslated region (3'-UTR) of the urokinase gene being associated with the development of bladder cancer. Such an association seems unlikely, since the genotype distributions in 114 bladder cancer patients did not differ from those of 105 controls.
MO-FG-207A-02: What Do We Really Know About Cancer Risks at Doses Pertinent to CT Scans.

There has been increasing use of CT scans globally. This increased use is not in itself of concern, and largely reflects the remarkable clinical benefits of CT. Inappropriate use of CT is, however, of concern, particularly as the potential for carcinogenic effects is yet to be fully understood. The first major media attention to cancer risk from CT scan arose from a series of papers and an Editorial published in AJR in 2001. This was followed by another series of papers in 2007 and associated media attention to the estimation of the number of cancer deaths that may occur in US as a result of radiation exposure from CT. In recent years there have been a series of papers and position statements suggesting that these predictions need to be worded very carefully. This is because they may lead to sensationalistic articles in the public media that might cause some patients and parents to refuse medical imaging procedures, placing them at substantial risk by not receiving the clinical benefits of the prescribed imaging. There is a considerable body of work within the field of cognitive psychology that indicates that a discussion of risk may lead to bias in how parents would interpret information and potentially refuse indicated examinations. It follows that discussion of any potential risk of imaging should be accompanied by a discussion of the corresponding benefit of imaging or the harm if imaging is not done. Studies reported in the literature both for CT scans and for fluoroscopy suggest that when this is done, patients or parents do not refuse needed imaging. LEARNING OBJECTIVES 1. To understand the global usage of diagnostic x-rays and CT and issues and approaches for safety 2. To learn about science behind current dose effects relationship and risk estimates at the level of few CT scans and the uncertainties in estimating risks from CT scans 3. To understand how issues of CT scan risks are perceived by patients and physicians and how they can be better presented to them.