LLukas22/scidocs huggingface dataset:
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid substitutions that are predicted to abolish the DNA binding capacity of p63. The ninth is a frameshift mutation that affects the p63alpha, but not p63beta and p63gamma isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome.
On 3D Scene Flow and Structure Estimation

In this paper, novel algorithms computing dense 3D scene ow from multiview image sequences are described. A new hierarchical rule-based stereo matching algorithm is presented to estimate the initial disparity map. Di erent available constraints under a multiview camera setup are investigated and then utilized in the proposed motion estimation algorithms. We show two di erent formulations for 3D scene ow computation. One formulation assumes that initial disparity map is accurate while the other does not make this assumption. Image segmentation information is used to maintain the motion and depth discontinuities. Iterative implementations are used to successfully compute 3D scene ow and structure at every point in the reference image. Novel hard constraints are introduced in this paper to make the algorithms more accurate and robust. Promising experimental results are seen by applying our algorithms to
Periodontal therapy reduces plasma levels of interleukin-6, C-reactive protein, and fibrinogen in patients with severe periodontitis and refractory arterial hypertension.

BACKGROUND
Recent epidemiologic studies suggest that inflammation is the link between periodontal diseases and cardiovascular complications. This study aimed to evaluate the effects of non-surgical periodontal treatment on plasma levels of inflammatory markers (interleukin [IL]-6, C-reactive protein [CRP], and fibrinogen) in patients with severe periodontitis and refractory arterial hypertension.


METHODS
Twenty-two patients were examined and randomly divided into two groups. The test group was composed of 11 patients (mean age, 48.9 +/- 3.9 years) who received periodontal treatment, whereas the control group had 11 patients (mean age, 49.7 +/- 6.0 years) whose treatment was delayed for 3 months. Demographic and clinical periodontal data were collected, and blood tests were performed to measure the levels of IL-6, CRP, and fibrinogen at baseline and 3 months later.


RESULTS
The clinical results showed that the mean percentages of sites with bleeding on probing, probing depth (PD) 4 to 5 mm, PD > or =6 mm, clinical attachment loss (CAL) 4 to 5 mm, and CAL > or =6 mm were significantly reduced in the test group 3 months after periodontal treatment. There were no significant differences between the data at baseline and 3 months in the control group. Periodontal treatment significantly reduced the blood levels of fibrinogen, CRP, and IL-6 in the test group.


CONCLUSION
Non-surgical periodontal therapy was effective in improving periodontal clinical data and in reducing the plasma levels of IL-6, CRP, and fibrinogen in hypertensive patients with severe periodontitis.
OVERCONFIDENCE IN CURRENCY MARKETS

This paper tests the influential hypothesis, typically attributed to Friedman (1953), that irrational traders will be driven out of financial markets by trading losses. The paper‟s main finding is that overconfident currency dealers are not driven out of the market. Traders with extensive experience are neither more nor less overconfident than their inexperienced colleagues. We first provide evidence that currency dealers are indeed overconfident, which is notable since they get daily trading practice and face intense financial incentives to accuracy. [
Dreams and Delusions: The Drama of German History

This highly praised collection of essays by eminent historian Fritz Stern ponders the monumental promise and catastrophe of twentieth-century German history.
Dyadic Green Function for an Electromagnetic Medium Inspired by General Relativity

The dyadic Green function for a homogeneous electromagnetic medium inspired by the spatiotemporally nonhomogeneous constitutive equations of gravitationally affected vacuum is derived.
The effect of HIV infection on time off work in a large cohort of gold miners with known dates of seroconversion

OBJECTIVES
To estimate the effect of HIV infection on time off work. To provide baseline estimates for economic and actuarial models, and for evaluations of ART and other workplace interventions.


METHODS
A retrospective cohort study of gold miners with known dates of seroconversion to HIV, and an HIV-negative comparison group, used routinely collected data to estimate the proportion of time off work by calendar period (1992-2002, prior to the introduction of ART), age, time since seroconversion and period before death. The authors calculated ORs for overall time off work and RR ratios (RRR, using multinomial logistic regression) for reasons off work relative to being at work.


RESULTS
1703 HIV-positive and 4859 HIV-negative men were followed for 34 424 person-years. HIV-positive miners spent a higher proportion of time off work than negative miners (20.7% vs 16.1%) due to greater medical and unauthorised absence. Compared with HIV-negative miners, overall time off work increased in the first 2years after seroconversion (adjusted OR 1.40 (95% CI 1.36 to 1.45)) and then remained broadly stable for a number years, reaching 38.8% in the final year before death (adjusted OR 3.27, 95% CI 2.95 to 3.63). Absence for medical reasons showed the strongest link to HIV infection, increasing from an adjusted RRR of 2.66 (95% CI 2.45 to 2.90) for the first 2years since seroconversion to 13.6 (95% CI 11.8 to 15.6) in the year prior to death.


CONCLUSIONS
Time off work provides a quantifiable measure of the effect of HIV on overall morbidity. HIV/AIDS affects both labour supply (increased time off work) and demand for health services (increased medical absence). The effects occur soon after seroconversion and stabilise before reaching very high levels in the period prior to death. Occupational health services are an important setting to identify HIV-infected men early.
Health worker motivation in Africa: the role of non-financial incentives and human resource management tools

BACKGROUND
There is a serious human resource crisis in the health sector in developing countries, particularly in Africa. One of the challenges is the low motivation of health workers. Experience and the evidence suggest that any comprehensive strategy to maximize health worker motivation in a developing country context has to involve a mix of financial and non-financial incentives. This study assesses the role of non-financial incentives for motivation in two cases, in Benin and Kenya.


METHODS
The study design entailed semi-structured qualitative interviews with doctors and nurses from public, private and NGO facilities in rural areas. The selection of health professionals was the result of a layered sampling process. In Benin 62 interviews with health professionals were carried out; in Kenya 37 were obtained. Results from individual interviews were backed up with information from focus group discussions. For further contextual information, interviews with civil servants in the Ministry of Health and at the district level were carried out. The interview material was coded and quantitative data was analysed with SPSS software.


RESULTS AND DISCUSSION
The study shows that health workers overall are strongly guided by their professional conscience and similar aspects related to professional ethos. In fact, many health workers are demotivated and frustrated precisely because they are unable to satisfy their professional conscience and impeded in pursuing their vocation due to lack of means and supplies and due to inadequate or inappropriately applied human resources management (HRM) tools. The paper also indicates that even some HRM tools that are applied may adversely affect the motivation of health workers.


CONCLUSION
The findings confirm the starting hypothesis that non-financial incentives and HRM tools play an important role with respect to increasing motivation of health professionals. Adequate HRM tools can uphold and strengthen the professional ethos of doctors and nurses. This entails acknowledging their professionalism and addressing professional goals such as recognition, career development and further qualification. It must be the aim of human resources management/quality management (HRM/QM) to develop the work environment so that health workers are enabled to meet their personal and the organizational goals.
Enhancing exercise tolerance and physical activity in COPD with combined pharmacological and non-pharmacological interventions: PHYSACTO randomised, placebo-controlled study design

INTRODUCTION
Chronic obstructive pulmonary disease (COPD) is associated with exercise limitation and physical inactivity, which are believed to have significant long-term negative health consequences for patients. While a number of COPD treatments and exercise training programmes increase exercise capacity, there is limited evidence for their effects on physical activity levels, with no clear association between exercise capacity and physical activity in clinical trials. Physical activity depends on a number of behaviour, environmental and physiological factors. We describe the design of the PHYSACTO trial, which is investigating the effects of bronchodilators, either alone or with exercise training, in combination with a standardised behaviour-change self-management programme, on exercise capacity and physical activity in patients with COPD. It is hypothesised that bronchodilators in conjunction with a behaviour-change self-management programme will improve physical activity and that this effect will be amplified by the addition of exercise training.


METHODS AND ANALYSIS
Patients are being recruited from 34 sites in Australia, New Zealand, the USA, Canada and Europe. Patients receiving a multicomponent intervention designed to support behaviour change related to physical activity are randomised to four treatment arms: placebo, tiotropium, tiotropium+olodaterol, and tiotropium+olodaterol+exercise training. The primary outcome is improvement in exercise capacity after 8 weeks, measured by endurance time during a shuttle walk test. The secondary outcome is improvement in physical activity, including objective accelerometer assessment and patient-reported functioning using the Functional Performance Inventory-Short Form and the novel hybrid PROactive instrument. Additionally, the influence of moderating variables (ie, factors influencing a patient's choice to be physically active) on increases in physical activity is also explored.


ETHICS AND DISSEMINATION
The study has been approved by the relevant Institutional Review Boards, Independent Ethics Committee and Competent Authority according to national and international regulations. The findings of the trial will be disseminated through relevant peer-reviewed journals and international conference presentations.


TRIAL REGISTRATION NUMBER
NCT02085161.
The Radical Reformation: Frontmatter

Preface Introduction Chronology 1521-8 Bibliographical note 1. Thomas Muntzer, The Prague Protest 2. Thomas Muntzer, Sermon to the Princes (or An Exposition of the Second Chapter of Daniel) 3. Andreas Karlstadt, Letter from the Community of Orlamunde to the People of Allstedt 4. Conrad Grebel, Letter to Thomas Munzter 5. Andreas Karlstadt, Whether One Should Proceed Slowly 6. Thomas Muntzer, A Highly Provoked Defense 7. Felix Manz, Protest and Defense 8. Anonymous, To the Assembly of the Common Peasantry 9. Hans Denck, On the Law of God 10. Hans Hut, On the Mystery of Baptism 11. Michael Sattler, The Schleitheim Articles 12. Balthasar Hubmaier, On the Sword 13. Han Hergot, On the New Transformation of the Christian Life Appendices: Programs of the Peasants' War: a) The Eleven Muhlhausen Articles b) The Twelve Articles of the Upper Swabian Peasants c) The Memmingen Federal Constitution d) The Document of Articles of the Black Forest Peasants e) The Forty-six Frankfurt Articles f) Michael Gaismair's Territorial Constitution for Tyrol Biographical notes Notes to the texts.
Validation of internal control genes for gene expression analysis in diabetic glomerulosclerosis.

BACKGROUND
Gene expression analysis is an invaluable tool in the study of diabetic glomerulosclerosis. The necessary denominator for the quantitative expression of a specific gene is the expression level of a second gene that is presumed to remain unchanged. Thus, it is critical that the stability of this housekeeping gene in diabetic glomeruli or in cultured glomerular cells is not altered by the disease or a high glucose environment, respectively. Although gene expression quantification, achieved by Northern blot analysis or real-time reverse transcription-polymerase chain reaction (RT-PCR) has been extensively applied in diabetic renal tissue in vivo and in vitro, there are no studies validating the use of any specific endogenous control gene in these measurements.


METHODS
We performed real-time RT-PCR using RNA from microdissected diabetic glomeruli and from mesangial cells cultured in high glucose concentration to investigate gene expression stability of beta-actin, glyceraldehyde-3-phosphate dehydrogenase (GADPH), phospholipase A2, beta2-microglobulin, acidic ribosomal protein 36B4, and cyclophilin A.


RESULTS
Using an analysis method which is independent of gene abundance and compares the pair-wise variation of a given housekeeping gene with all other control genes, beta-actin and phospholipase A2, were found to be the most stable genes in diabetic glomeruli and in primary mesangial cells exposed to 20 mmol/L glucose.


CONCLUSION
It is proposed that the expression level of these genes is the best reference to evaluate relative changes in gene activity in diabetic/high glucose exposed glomerular tissues.
Design and optimization of roof trusses using morphological indicators

0965-9978/$ see front matter 2013 Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.advengsoft.2013.04.021 q In honour of my friend Zdenek Bittnar, for his 70th birthday. W. Patrick De Wilde. ⇑ Corresponding author. Tel.: +32 (0)2 629 29 20; fax: +32 (0)2 629 29 28. E-mail addresses: Lincy.Pyl@vub.ac.be (L. Pyl), csitters@gmail.com (C.W.M. Sitters), de.wilde.willy@gmail.com (W.P. De Wilde). L. Pyl a,⇑, C.W.M. Sitters , W.P. De Wilde a
Improving the Accuracy and Reliability of Remote System-Calibration-Free Eye-Gaze Tracking

Remote eye-gaze tracking provides a means for nonintrusive tracking of the point-of-gaze (POG) of a user. For application as a user interface for the disabled, a remote system that is noncontact, reliable, and permits head motion is very desirable. The system-calibration-free pupil-corneal reflection (P-CR) vector technique for POG estimation is a popular method due to its simplicity, however, accuracy has been shown to be degraded with head displacement. Model-based POG-estimation methods were developed, which improve system accuracy during head displacement, however, these methods require complex system calibration in addition to user calibration. In this paper, the use of multiple corneal reflections and point-pattern matching allows for a scaling correction of the P-CR vector for head displacements as well as an improvement in system robustness to corneal reflection distortion, leading to improved POG-estimation accuracy. To demonstrate the improvement in performance, the enhanced multiple corneal reflection P-CR method is compared to the monocular and binocular accuracy of the traditional single corneal reflection P-CR method, and a model-based method of POG estimation for various head displacements.
Novel roles for integrins in tumour angiogenesis

not available at time of printing.
Online Learning and Stochastic Approximations

The convergence of online learning algorithms is analyzed using the tools of the stochastic approximation theory, and proved under very weak conditions. A general framework for online learning algorithms is rst presented. This framework encompasses the most common online learning algorithms in use today, as illustrated by several examples. The stochastic approximation theory then provides general results describing the convergence of all these learning algorithms at once.
Nietzsche's Philosophy of Art

Acknowledgements List of abbreviations Introduction 1. Schopenhauer 2. The birth of tragedy 3. Human, all-too-human 4. The gay science 5. Twilight of the idols Epilogue Notes Texts and translations Index.
Differing Patterns of Overweight and Obesity among Black Men and Women in Cape Town: The CRIBSA Study

OBJECTIVES
To ascertain the prevalence and determinants of overweight/obesity in the 25-74-year-old urban black population of Cape Town and examine the changes between 1990 and 2008/09.


METHODS
In 2008/09, a representative cross-sectional sample, stratified for age and sex, was randomly selected from the same townships sampled in 1990. Data were collected by questionnaires, clinical measurements and biochemical analyses. Gender-specific linear regression models evaluated the associations with overweight/obesity.


RESULTS
There were 1099 participants, 392 men and 707 women (response rate 86%) in 2008/09. Mean body mass index (BMI) and waist circumference (WC) were 23.7 kg/m2 (95% confidence interval (CI): 23.1-24.2) and 84.2 cm (95% CI: 82.8-85.6) in men, and 33.0 kg/m2 (95% CI: 32.3-33.7) and 96.8 cm (95% CI: 95.5-98.1) in women. Prevalence of BMI ≥25 kg/m2 and raised WC were 28.9% (95% CI: 24.1-34.3) and 20.1% (95% CI: 15.9-24.9) in men, and 82.8% (95% CI: 79.3-85.9) and 86.0% (95% CI: 82.9-88.6) in women. Among 25-64-year-olds, BMI ≥25 kg/m2 decreased between 1990 (37.3%, 95% CI: 31.7-43.1) and 2008/09 (27.7%, 95% CI: 22.7-33.4) in men but increased from 72.7% (95% CI: 67.6-77.2) to 82.6% (95% CI: 78.8-85.8) in women. In the regression models for men and women, higher BMI was directly associated with increasing age, wealth, hypertension and diabetes but inversely related to daily smoking. Also significantly associated with rising BMI were raised low-density lipoprotein cholesterol and being employed compared to unemployed in men, and having >7 years of education in women.


CONCLUSIONS
Overweight/obesity, particularly in urban black women, requires urgent action because of the associations with cardiovascular disease risk factors and their serious consequences.
Measuring social disabilities in mental health

Social functioning is important in relation to mental illness as it can limit the ability to function independently and because it may vary separately from symptoms. This paper summarises and critically reviews the development of the WHO Classification of Impairments, Disabilities and Handicaps. The value of social role theory is described followed by a classification of the relevant assessment scales in this field.
A low repetition rate passively mode-locked fiber laser

We demonstrated an Yb3+ doped mode-locked fiber ring laser with over 400m cavity length. 444kHz repetition rate wavebreaking free pulse was obtained at 1068nm with 890ps pulse width, 0.29nm bandwidth and 5.2nJ pulse energy. This is the lowest repetition rate in passively mode locked fiber laser to our knowledge
The Future of Digital Forensics: Challenges and the Road Ahead

Today’s huge volumes of data, heterogeneous information and communication technologies, and borderless cyberinfrastructures create new challenges for security experts and law enforcement agencies investigating cybercrimes. The future of digital forensics is explored, with an emphasis on these challenges and the advancements needed to effectively protect modern societies and pursue cybercriminals.
Simulation of concentrated suspensions using the force-coupling method

The force-coupling method (FCM) represents the dynamics of low Reynolds number suspension flows through a distributed, low-order, finite force-multipole expansion and provides an efficient, matrix-free method to solve the mobility problem for the particle motion. In concentrated suspensions, strong short-range lubrication forces are generated between particles in close proximity as fluid in the intervening gap is displaced by the relative motion of the particles. These forces, together with near-surface contact forces, play an important role in the suspension rheology and self-diffusion of particles. However these forces lead to ill-conditioned problems for determining the particle stresses and particle motion in large systems of particles at higher volume fractions. A robust and effective iteration scheme for determining the particle stresslets is described together with a new scheme for including lubrication forces as near-field corrections to the FCM resistance problem. Both the lubrication and far-field interactions are solved as fully coupled systems in OðNp logðNpÞÞ operations, for Np particles, using preconditioned conjugate gradient solvers. Numerical results for particles settling under gravity, particle pairs in linearly varying flows and in concentrated suspensions are compared with previous theoretical results and simulations. Numerical simulations with more than 4000 non-Brownian, spherical particles in a homogeneous shear flow provide results on the pair-distribution function and Lagrangian velocity correlations. The extension of the methods to simulate bidisperse systems or wall-bounded suspensions are discussed. 2009 Elsevier Inc. All rights reserved.
Improved Survival of HIV-1-Infected Patients with Progressive Multifocal Leukoencephalopathy Receiving Early 5-Drug Combination Antiretroviral Therapy

BACKGROUND
Progressive multifocal leukoencephalopathy (PML), a rare devastating demyelinating disease caused by the polyomavirus JC (JCV), occurs in severely immunocompromised patients, most of whom have advanced-stage HIV infection. Despite combination antiretroviral therapy (cART), 50% of patients die within 6 months of PML onset. We conducted a multicenter, open-label pilot trial evaluating the survival benefit of a five-drug cART designed to accelerate HIV replication decay and JCV-specific immune recovery.


METHODS AND FINDINGS
All the patients received an optimized cART with three or more drugs for 12 months, plus the fusion inhibitor enfuvirtide during the first 6 months. The main endpoint was the one-year survival rate. A total of 28 patients were enrolled. At entry, median CD4+ T-cell count was 53 per microliter and 86% of patients had detectable plasma HIV RNA and CSF JCV DNA levels. Seven patients died, all before month 4. The one-year survival estimate was 0.75 (95% confidence interval, 0.61 to 0.93). At month 6, JCV DNA was undetectable in the CSF of 81% of survivors. At month 12, 81% of patients had undetectable plasma HIV RNA, and the median CD4+ T-cell increment was 105 per microliter. In univariate analysis, higher total and naive CD4+ T-cell counts and lower CSF JCV DNA level at baseline were associated with better survival. JCV-specific functional memory CD4+ T-cell responses, based on a proliferation assay, were detected in 4% of patients at baseline and 43% at M12 (P = 0.008).


CONCLUSIONS
The early use of five-drug cART after PML diagnosis appears to improve survival. This is associated with recovery of anti-JCV T-cell responses and JCV clearance from CSF. A low CD4+ T-cell count (particularly naive subset) and high JCV DNA copies in CSF at PML diagnosis appear to be risk factors for death.


TRIAL REGISTRATION
ClinicalTrials.gov NCT00120367.