Miracle-dz/UniFAR-FTUs huggingface dataset:
Fanconi anaemia

I read with interest the article by Huck et al (2006) on Fanconi anaemia (FA) presenting at an advanced age. In 1991, we reported a patient with FA, who was diagnosed at the age of 7 years; she had classical skeletal and skin abnormalities, pancytopenia and bone marrow hypoplasia; cytogenetic studies showed numerous chromosomal aberrations, such as chromatid and chromosome gaps and breaks. She had a spontaneous recovery of blood counts at the age of 16 years. At the time of reporting she was aged 20 years and showed Hb 14Æ9 g/dl, white blood cell count (WBC) 5Æ3 · 10/ 1 and platelet count 92 · 10/1 (Hopkins et al, 1991). She represented 4 years later when she was 3-months pregnant (twins). Blood parameters were Hb 11Æ9 g/dl, WBC 2Æ9 · 10/1 (neutrophils 1Æ9) and platelet count 28 · 10/1. Bone marrow examination showed trilineage myelodysplasia; cytogenetic studies showed acquired unbalanced karyotype resulting in a trisomy for 1q – 46xx, der(6)t(1;6) (q21;þ25) [9]/ 46xx [7]. Her pregnancy was complicated by HELLP syndrome (haemolytic anaemia, elevated liver enzymes, low platelet count), pre-eclampsia and fetal distress, requiring pre-term delivery at 28 weeks. Seven months after delivery she developed invasive vulval cancer (VIN III), requiring radical vulvectomy with perioperative platelet and antibiotic cover. Over the next 12 months, she required several courses of antibiotics for recurrent and varied clinical infections. Blood counts showed worsening pancytopenia: Hb 8Æ4 g/dl, WBC 0Æ95 · 10/1 (neutrophils 0Æ6) and platelets 6 · 10/1. In August, 2005 (aged 26 years) she received an allogeneic matched cord blood transplantation (D. Ma, St Vincent’s Hospital, Sydney, Australia). She had a slow engraftment; blood counts 10 weeks post-transplant showed Hb 10Æ2 g/dl, WBC 6Æ9 · 10/1 and platelets 31 · 10/1. However, she developed gut graft-versus-host disease and 2 months later represented with severe staphyloccal pneumonia. She died 2 weeks later despite optimum treatment in the Intensive Care Unit. Her family history was unremarkable. Her siblings and parents are well, as are her twin children. To the best of our knowledge, ours was the first report of spontaneous recovery of blood counts in a patient with FA. Our case provides further evidence for varied clinical manifestations of FA, highlighted and discussed in the report by Huck et al (2006).
Tracing the Domestication of a Biofilm-Forming Bacterium

ABSTRACT Over the course of more than a century of laboratory experimentation, Bacillus subtilis has become “domesticated,” losing its ability to carry out many behaviors characteristic of its wild ancestors. One such characteristic is the ability to form architecturally complex communities, referred to as biofilms. Previous work has shown that the laboratory strain 168 forms markedly attenuated biofilms compared with the wild strain NCIB3610 (3610), even after repair of a mutation in sfp (a gene involved in surfactin production) previously known to impair biofilm formation. Here, we show that in addition to the sfp mutation, mutations in epsC, swrA, and degQ are necessary and sufficient to explain the inability of the laboratory strain to produce robust biofilms. Finally, we show that the architecture of the biofilm is markedly influenced by a large plasmid present in 3610 but not 168 and that the effect of the plasmid can be attributed to a gene we designate rapP. When rapP is introduced into 168 together with wild-type alleles of sfp, epsC, swrA, and degQ, the resulting repaired laboratory strain forms biofilms that are as robust as and essentially indistinguishable in architecture from those of the wild strain, 3610. Thus, domestication of B. subtilis involved the accumulation of four mutations and the loss of a plasmid-borne gene.
Effectiveness of Morphine, Fentanyl, and Methoxyflurane in the Prehospital Setting

Abstract Objective. To compare the effectiveness of intravenous (IV) morphine, intranasal (IN) fentanyl, and inhaled methoxyflurane when administered by paramedics to patients with moderate to severe pain. Methods. We conducted a retrospective comparative study of adult patients with moderate to severe pain treated by paramedics from the Ambulance Service of New South Wales who received IV morphine, IN fentanyl, or inhaled methoxyflurane either alone or in combination between January 1, 2004, and November 30, 2006. We used multivariate logistic regression to analyze data extracted from a clinical database containing routinely entered information from patient health care records. The primary outcome measure was effective analgesia, defined as a reduction in pain severity of ≥30% of initial pain score using an 11-point verbal numeric rating scale (VNRS-11). Results. The study population comprised 52,046 patients aged between 16 and 100 years with VNRS-11 scores of ≥5. All analgesic agents were effective in the majority of patients (81.8%, 80.0%, and 59.1% for morphine, fentanyl, and methoxyflurane, respectively). There was very strong evidence that methoxyflurane was inferior to both morphine and fentanyl (p < 0.0001). There was strong evidence that morphine was more effective than fentanyl (p = 0.002). There was no evidence that combination analgesia was better than either fentanyl or morphine alone. Conclusion. Inhaled methoxyflurane, IN fentanyl, and IV morphine are all effective analgesic agents in the out-of-hospital setting. Morphine and fentanyl are significantly more effective analgesic agents than methoxyflurane. Morphine appears to be more effective than IN fentanyl; however, the benefit of IV morphine may be offset to some degree by the ability to administer IN fentanyl without the need for IV access.
An empirical analysis on industrial structural transition and regional inequality in China

Since reform and opening in 1978, China's economy had made a great development, but the regional inequality decreased in 1980's while increased in 1990's. The change of regional inequality has became as the important issue step by step which affect on the development of economy and the stability of society in China. So, this study attempts to analyze the dynamic relationship between the change of industrial structure and the regional inequality based on the conditional convergence model developed by Barro and Sala-i-Martin. According to analyze the macroeconomic data from 1978 to 2005, we find that there is no convergence of economic growth in the whole process of China's reform. But if we divide this term into two periods, we will find that before 1990, the economic growth of China is convergence. However, after 1990, the divergence exists in the course of economic growth of China. Moreover, we get to know from our study result that the change of industrial structure increases regional economic growth. Hence, we get to know that promoting the development of reform, realizing industrialization and urbanization, and allocating productive factors based on comparative advantage would have a great benefit to the harmonious development of region of China.
Identification of 2‐Piperidone as a Biomarker of CYP2E1 Activity through Metabolomic Phenotyping

Cytochrome P450 2E1 (CYP2E1) is a key enzyme in the metabolic activation of many low molecular weight toxicants and also an important contributor to oxidative stress. A noninvasive method to monitor CYP2E1 activity in vivo would be of great value for studying the role of CYP2E1 in chemical-induced toxicities and stress-related diseases. In this study, a mass spectrometry-based metabolomic approach was used to identify a metabolite biomarker of CYP2E1 through comparing the urine metabolomes of wild-type (WT), Cyp2e1-null, and CYP2E1-humanized mice. Metabolomic analysis with multivariate models of urine metabolites revealed a clear separation of Cyp2e1-null mice from WT and CYP2E1-humanized mice in the multivariate models of urine metabolomes. Subsequently, 2-piperidone was identified as a urinary metabolite that inversely correlated to the CYP2E1 activity in the three mouse lines. Backcrossing of WT and Cyp2e1-null mice, together with targeted analysis of 2-piperidone in mouse serum, confirmed the genotype dependency of 2-piperidone. The accumulation of 2-piperidone in the Cyp2e1-null mice was mainly caused by the changes in the biosynthesis and degradation of 2-piperidone because compared with the WT mice, the conversion of cadaverine to 2-piperidone was higher, whereas the metabolism of 2-piperidone to 6-hydroxy-2-piperidone was lower in the Cyp2e1-null mice. Overall, untargeted metabolomic analysis identified a correlation between 2-piperidone concentrations in urine and the expression and activity of CYP2E1, thus providing a noninvasive metabolite biomarker that can be potentially used in to monitor CYP2E1 activity.
Assessment of dietary intake in an inner-city African American population and development of a quantitative food frequency questionnaire to highlight foods and nutrients for a nutritional invention

Primary objective To characterize the diets of low-income inner-city African Americans to develop a population-specific quantitative food frequency questionnaire (QFFQ) that will be used to highlight foods and nutrients for a nutritional intervention program aimed at reducing the risk of chronic disease and to evaluate the program. Methods and procedures A cross-sectional survey conducted in inner-city Baltimore, Maryland, USA. Twenty-four-hour dietary recalls were collected in 91 low-income African Americans aged between 18 and 74 years. Main outcomes and results The average daily energy intake was approximately 2,165 kcal for women and 2,509 kcal for men. The percentages of energy from fat were approximately 34% and 33% for women and men, respectively. Sodas were the main contributor to energy and sugar intake. A 113-item QFFQ was developed. Conclusions The results highlighted specific foods and nutrients that would be targeted in the nutritional intervention. The QFFQ developed is culturally appropriate and specific for low-income African Americans in inner-city Baltimore.
Inactivation of the Lateral Entorhinal Area Increases the Influence of Visual Cues on Hippocampal Place Cell Activity

The hippocampus is important for both navigation and associative learning. We previously showed that the hippocampus processes two-dimensional (2D) landmarks and objects differently. Our findings suggested that landmarks are more likely to be used for orientation and navigation, whereas objects are more likely to be used for associative learning. The process by which cues are recognized as relevant for navigation or associative learning, however, is an open question. Presumably both spatial and nonspatial information are necessary for classifying cues as landmarks or objects. The lateral entorhinal area (LEA) is a good candidate for participating in this process as it is implicated in the processing of three-dimensional (3D) objects and object location. Because the LEA is one synapse upstream of the hippocampus and processes both spatial and nonspatial information, it is reasonable to hypothesize that the LEA modulates how the hippocampus uses 2D landmarks and objects. To test this hypothesis, we temporarily inactivated the LEA ipsilateral to the dorsal hippocampal recording site using fluorophore-conjugated muscimol (FCM) 30 min prior to three foraging sessions in which either the 2D landmark or the 2D object was back-projected to the floor of an open field. Prior to the second session we rotated the 2D cue by 90°. Cues were returned to the original configuration for the third session. Compared to the Saline treatment, FCM inactivation increased the percentage of rotation responses to manipulations of the landmark cue, but had no effect on information content of place fields. In contrast, FCM inactivation increased information content of place fields in the presence of the object cue, but had no effect on rotation responses to the object cue. Thus, LEA inactivation increased the influence of visual cues on hippocampal activity, but the impact was qualitatively different for cues that are useful for navigation vs. cues that may not be useful for navigation. FCM inactivation also led to reductions in both frequency and power of hippocampal theta rhythms, indicative of the loss of functionally important LEA inputs to hippocampus. These data provide evidence that the LEA is involved in modulating how the dorsal hippocampus utilizes visual environmental cues.
Inconsistency-Tolerant Integrity Checking

All methods for efficient integrity checking require all integrity constraints to be totally satisfied, before any update is executed. However, a certain amount of inconsistency is the rule, rather than the exception in databases. In this paper, we close the gap between theory and practice of integrity checking, i.e., between the unrealistic theoretical requirement of total integrity and the practical need for inconsistency tolerance, which we define for integrity checking methods. We show that most of them can still be used to check whether updates preserve integrity, even if the current state is inconsistent. Inconsistency-tolerant integrity checking proves beneficial both for integrity preservation and query answering. Also, we show that it is useful for view updating, repairs, schema evolution, and other applications.
The FIRE 2013 Question Answering for the Spoken Web Task

The FIRE 2013 Question Answering for the Spoken Web (QASW) task was an information retrieval evaluation in which the goal was to match spoken Gujarati questions to spoken Gujarati answers. This paper describes the design of the task, the development of the test collection, the runs that were submitted, and the corresponding results.
On Nonlinear $H_{\infty }$  Filtering for Discrete-Time Stochastic Systems With Missing Measurements

In this paper, the H infin filtering problem is investigated for a general class of nonlinear discrete-time stochastic systems with missing measurements. The system under study is not only corrupted by state-dependent white noises but also disturbed by exogenous inputs. The measurement output contains randomly missing data that is modeled by a Bernoulli distributed white sequence with a known conditional probability. A filter of very general form is first designed such that the filtering process is stochastically stable and the filtering error satisfies H infin performance constraint for all admissible missing observations and nonzero exogenous disturbances under the zero-initial condition. The existence conditions of the desired filter are described in terms of a second-order nonlinear inequality. Such an inequality can be decoupled into some auxiliary ones that can be solved independently by taking special form of the Lyapunov functionals. As a consequence, a linear time-invariant filter design problem is discussed for the benefit of practical applications, and some simplified conditions are obtained. Finally, two numerical simulation examples are given to illustrate the main results of this paper.
Facilitators and barriers HPV unvaccinated girls after 5 years of program implementation

Understanding perceptions and characteristics of human papillomavirus (HPV) vaccinated and non-vaccinated girls can inform communication activities and vaccine delivery strategies. The purpose of this study was to evaluate knowledge and factors associated with HPV unvaccinated girls after five years of vaccination program implementation in Sicily, an Italian region with low vaccination coverage (<50.0%). A cross-sectional study was conducted through a questionnaire designed to assess knowledge and vaccination status of girls of 1997, 1998, 1999, and 2000 birth cohorts. The sample consisted of 350 girls who attended three high schools. Multivariable logistic regression analysis was conducted to examine predictors of vaccine refusal. The survey sample of girls shows that the 43.1% were HPV unvaccinated. A significant increased risk of being unvaccinated originated from the belief that the vaccine was too new (AdjOR = 21.08, CI95% = 2.57–172.97) and that it may cause cervical cancer (AdjOR = 4.36, CI95% = 1.26–15.07), along with having friends as a source of information on the vaccine (AdjOR = 3.67, CI95% = 1.63–8.25). A significant inverse association was observed between being unvaccinated and having Pediatrician/General practitioner as a source of information on HPV vaccine (AdjOR = 0.40, CI95% = 0.24–0.68). Many girls lack the fundamental knowledge about the HPV vaccine. The key issue is the promotion and implementation of information programs to raise awareness of girls on the importance of the vaccine.
Blues and Samba

Este artigo considera as conexões entre blues e bossa nova, pouco reconhecidas na literatura sobre bossa nova, mas muito importantes para o desenvolvimento do estilo. Analisando as gravações do circuito samba-jazz em Copa-cabana nas décadas de 1950 e1960, o artigo traz à luz uma prática de blues, tanto na estrutura de doze compassos como na utilização da escala blues como matéria de improviso, bastante comum naquela época. O artigo explica o papel de figuras-chave como Booker Pittman, Moacir Santos e Paulo Moura na transmissão da influência dos blues no Rio de Janeiro, e os efeitos dessa influência na bossa nova. O artigo termina com uma consideração sobre mudanças recentes no mercado cultural que têm possibilitado um entendimento mais profundo do fenômeno “bossa-blues. ”
The Culture of the market : historical essays

Acknowledgments List of contributors Plates Introduction: the culture of the market Part I. Market Regimes Old and New: 1. The ruling class in the market place: nobles and money in early modern France 2. Territorial gardens: the control of land in seventeenth-century French formal gardens 3. Money, equality, fraternity: freemasonry and the social order in eighteenth-century Europe 4. Market culture, reckless passion and the Victorian reconstruction of punishment Part II. Personality and Authority in the Age of Capital: 5. New cultural heroes in the early national period 6. Preserving 'the natural equality of rank and influence' liberalism, republicanism and equality of condition in Jacksonian politics 7. Banking on language: the currency of Alexander Bryan Johnson Part III. The Lens of 'High' Culture: 8. An entrepreneur in spite of himself: Edgar Degas and the market 9. A Yankee Diogenes: Thoreau and the market 10. Need and honour in Balzac's Pere Goriot: reflections on a vision of laissez-faire society Part IV. Agency and Structure: 11. The reformist dimensions of Talcott Parsons's early social theory 12. The strange career of The Lonely Crowd: or the antinomies of autonomy 13. Persons as uncaused causes: John Stuart Mill, The Spirit of Capitalism, and the 'invention' of formalism Index.
Facial recognition using simulated prosthetic pixelized vision.

PURPOSE To evaluate a model of simulated pixelized prosthetic vision using noncontiguous circular phosphenes, to test the effects of phosphene and grid parameters on facial recognition. METHODS A video headset was used to view a reference set of four faces, followed by a partially averted image of one of those faces viewed through a square pixelizing grid that contained 10x10 to 32x32 dots separated by gaps. The grid size, dot size, gap width, dot dropout rate, and gray-scale resolution were varied separately about a standard test condition, for a total of 16 conditions. All tests were first performed at 99% contrast and then repeated at 12.5% contrast. RESULTS Discrimination speed and performance were influenced by all stimulus parameters. The subjects achieved highly significant facial recognition accuracy for all high-contrast tests except for grids with 70% random dot dropout and two gray levels. In low-contrast tests, significant facial recognition accuracy was achieved for all but the most adverse grid parameters: total grid area less than 17% of the target image, 70% dropout, four or fewer gray levels, and a gap of 40.5 arcmin. For difficult test conditions, a pronounced learning effect was noticed during high-contrast trials, and a more subtle practice effect on timing was evident during subsequent low-contrast trials. CONCLUSIONS These findings suggest that reliable face recognition with crude pixelized grids can be learned and may be possible, even with a crude visual prosthesis.
Multivariate models for predicting progression to AIDS and survival in human immunodeficiency virus-infected persons.

Nine hundred thirty persons enrolled in the US Air Force Human Immunodeficiency Virus (HIV) Natural History Study were evaluated with a standard battery of 30 potential surrogate markers of disease progression. A risk score for predicting progression to AIDS was then calculated for each patient in the cohort by using the four highest-ranking variables from multivariate analysis: percentage of CD4 CD29 cells, anergy status, age, and hemoglobin. For predicting survival, beta 2-microglobulin replaced age in the Cox model. Stratification according to the risk score demonstrated that rates of progression to AIDS and survival were significantly different between risk groups (P < .0001). The novel combination of these markers results in extremely accurate risk scores, which may serve as the basis for the development of true surrogate markers of disease progression.
Voter Turnout and Political Equality: Testing the ‘Law of Dispersion’ in a Swedish Natural Experiment

According to the ‘law of dispersion’, the level of inequality in political participation is higher when voter turnout is low. We empirically test this hypothesis by evaluating levels of voter turnout in the 2010 Swedish election to the Västra Götaland county council and in the 2011 re-election for the same county council. The re-election voter turnout was reduced by almost half, from 80.6 per cent to 44.1 per cent. Our results support the law of dispersion: the level of inequality in participation substantially increased between young and old, rich and poor, low and high educated and politically interested and uninterested.
Interactive Narrative: An Intelligent Systems Approach

Interactive narrative is a form of digital interactive experience in which users create or influence a dramatic storyline through their actions. The goal of an interactive narrative system is to immerse the user in a virtual world such that he or she believes that they are an integral part of an unfolding story and that their actions can significantly alter the direction and/or outcome of the story.In this article we review the ways in which artificial intelligence can be brought to bear on the creation of interactive narrative systems. We lay out the landscape of about 20 years of interactive narrative research and explore the successes as well as open research questions pertaining to the novel use of computational narrative intelligence in the pursuit of entertainment, education, and training.
The Effects of Working in Pairs in Science Performance Assessments

Concerns about the effects of multiple-choice measures in traditional testing programs have led many educators and policymakers to suggest the use of alternative assessment methods. Some performance-based assessments require students to work in small collaborative groups as part of the test process. This study uses responses to hands-on science tasks at Grades 5 and 8 to examine whether the score a student earns while working with someone else is a truly independent assessment of that student's ability. We also explore whether working in pairs affects an individual's scores on subsequent tasks and whether these results are consistent across grade levels. Our analyses indicate that at Grades 5 and 8, work done with a partner should not be considered as an independent assessment of each student's ability. Some evidence of carry-over effects from working in pairs was found at each grade.