Miracle-dz/UniFAR-FTUs huggingface dataset:
Relevance of truncating titin mutations in dilated cardiomyopathy

Dilated cardiomyopathy (DCM), a genetically heterogeneous cardiac disease characterized by left ventricular dilatation and systolic dysfunction, is caused majorly by truncations of titin (TTN), especially in A‐band region. Clinical interpretation of TTN‐truncating variants (TTNtv) has been challenged by the existing inaccurate variant assessment strategies and uncertainty in the true frequency of TTNtv across the general population. We aggregated TTNtv identified in 1788 DCM patients and compared the variants with those reported in over 60,000 Exome Aggregation Consortium reference population. We implemented our current variant assessment strategy that prioritizes TTNtv affecting all transcripts of the gene, and observed a decline in the prevalence of TTNtv in DCM. Despite this decline, TTNtv are more prevalent in DCM patients compared with reference population (p = 4.1 × 10−295). Moreover, our extended analyses confirmed the enrichment of TTNtv not only in the A‐band but also in the I/A‐band junction of TTN. We estimated the probability of pathogenicity of TTNtv affecting all transcripts of TTN, identified in unselected DCM patients to be 97.8% (likelihood ratio (LR) = 42.2). We emphasize that identifying a TTNtv, especially in the A‐band region, has a higher risk of being disease‐causing than previously anticipated, and recommend prioritizing TTNtv affecting at least five transcripts of the gene.
Limits to mode-localized sensing using micro- and nanomechanical resonator arrays

In recent years, the concept of utilizing the phenomenon of vibration mode-localization as a paradigm of mechanical sensing has made profound impact in the design and development of highly sensitive micro- and nanomechanical sensors. Unprecedented enhancements in sensor response exceeding three orders of magnitude relative to the more conventional resonant frequency shift based technique have been both theoretically and experimentally demonstrated using this new sensing approach. However, the ultimate limits of detection and in consequence, the minimum attainable resolution in such mode-localized sensors still remain uncertain. This paper aims to fill this gap by investigating the limits to sensitivity enhancement imposed on such sensors, by some of the fundamental physical noise processes, the bandwidth of operation and the noise from the electronic interfacial circuits. Our analyses indicate that such mode-localized sensors offer tremendous potential for highly sensitive mass and stiffness detection with ultimate resolutions that may be orders of magnitude better than most conventional micro- and nanomechanical resonant sensors.
Continual Learning in Generative Adversarial Nets

Developments in deep generative models have allowed for tractable learning of high-dimensional data distributions. While the employed learning procedures typically assume that training data is drawn i.i. d. from the distribution of interest, it may be desirable to model distinct distributions which are observed sequentially, such as when different classes are encountered over time. Although conditional variations of deep generative models permit multiple distributions to be modeled by a single network in a disentangled fashion, they are susceptible to catastrophic forgetting when the distributions are encountered sequentially. In this paper, we adapt recent work in reducing catastrophic forgetting to the task of training generative adversarial networks on a sequence of distinct distributions, enabling continual generative modeling.
Inequality, Nonhomothetic Preferences, and Trade: A Gravity Approach

In this paper, we show that inequality is an important determinant of import demand, in that it augments the standard gravity model in a significant way. We interpret this result with the aid of a model in which tastes are nonhomothetic. Classification of products, based on the correlation between household budget shares in the US and income, into "luxuries" and "necessities," works very well in our analysis when we restrict the analysis to developed importing countries. While the imports of luxuries increase with the importing country's inequality, imports of necessities decrease with it. Furthermore, we find that an increase in the level of inequality in the importing country generally leads to an increase in imports from developed countries, and to a reduction in imports from low-income countries.
Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

Abstract Mitochondrial morphology was studied in cultivated myoblasts obtained from patients with mitochondrial disorders, including CPEO, MELAS and TMEM70 deficiency. Mitochondrial networks and ultrastructure were visualized by fluorescence microscopy and transmission electron microscopy, respectively. A heterogeneous picture of abnormally sized and shaped mitochondria with fragmentation, shortening, and aberrant cristae, lower density of mitochondria and an increased number of “megamitochondria” were found in patient myoblasts. Morphometric Fiji analyses revealed different mitochondrial network properties in myoblasts from patients and controls. The small number of cultivated myoblasts required for semiautomatic morphometric image analysis makes this tool useful for estimating mitochondrial disturbances in patients with mitochondrial disorders.
Effect of Hormonal Therapy on Plasma Testosterone Levels in Prostatic Carcinoma

Plasma concentrations of testosterone were estimated in normal men, in patients before treatment for prostatic cancer, and in patients who had had various forms of endocrine treatment for prostatic carcinoma. There was no decline in plasma testosterone levels with age. Patients with non-metastatic disease had levels similar to those of normal controls, but in advanced metastatic disease the levels were low. After orchidectomy the plasma testosterone level fell to that found in normal women. In every patient stilboestrol in doses as small as 1 mg three times a day suppressed plasma testosterone at first to negligible amounts, irrespective of the clinical response. Subsequently a small but significant rise in the concentration was always observed over a period of six months' oestrogen therapy. Pituitary ablation with yttrium-90 lowered the plasma testosterone concentration again to negligible amounts in patients who had been on stilboestrol. In advanced metastatic disease this was often associated with relief of pain. Preliminary studies with aminoglutethimide indicate that it can produce biochemical and clinical effects similar to those of pituitary ablation.
Appendicectomy for acute appendicitis and for other conditions: an epidemiological study.

BACKGROUND Appendicectomy is one of the commonest operations in most developed countries, especially in children and young adults. We used routine abstracts of hospital inpatient records to study the demographic and temporal profiles of emergency appendicectomy for acute appendicitis and appendicectomy in other circumstances. METHODS Records held in the Oxford record linkage study (ORLS) from 1970-1986 inclusive were analysed. Age- and sex-specific admission rates were studied, subdividing appendicectomy into three main categories: emergency appendicectomy for acute appendicitis, emergency appendicectomy as the main operation without appendicitis recorded as a diagnosis, and prophylactic or incidental appendicectomy with other operations but without appendicitis. RESULTS A total of 47,505 records of appendicectomy were analysed. Emergency appendicectomy for acute appendicitis was more common in males than females, peaked in the 10-19 year age groups, and declined over time. Emergency appendicectomy without appendicitis was more common in women than men (female to male ratio 1.8:1), peaked at age 15-19 years and did not decline over time. Incidental appendicectomy was much commoner in women (female to male ratio 3:1), peaked at older ages than the first two groups, and declined significantly over time. CONCLUSIONS The demographic profiles of patients in these categories were quite different. The data on trends suggest confirmation of a true decline in acute appendicitis, no decline for conditions which may mimic it, and a decline in the use of prophylactic and incidental appendicectomy. The operations in the latter categories--appendicectomy without acute appendicitis--were much commoner in women than men and their appropriateness would be worthwhile topics for medical audit.
Theories of comparative analysis

"Theories of Comparative Analysis" provides a detailed examination of comparative analysis, the problem of predicting how a system will react to perturbations in its parameters, and why. It clearly formalizes the problem and presents two novel techniques - differential qualitative (DQ) analysis and exaggeration - that solve many comparative analysis problems, providing explanations suitable for use by design systems, automated diagnosis, intelligent tutoring systems, and explanation-based generalization.Weld first places comparative analysis within the context of qualitative physics and artificial intelligence. He then explains the theoretical basis for each technique and describes how they are implemented. He shows that they are essentially complementary: DQ analysis is sound, while exaggeration is a heuristic method: exaggeration, however, solves a wider variety of problems. Weld summarizes their similarities and differences and introduces a hybrid architecture that takes advantage of the strengths of each technique.Daniel S. Weld is Assistant Professor of Computer Science and Engineering at the University of Washington. "Theories of Comparative Analysis" is included in the Artificial Intelligence Series, edited by Michael Brady, Daniel Bobrow, and Randall Davis.
Changing patterns of alcohol consumption in Nigeria: an exploration of responsible factors and consequences

Alcohol consumption among different ethnic groups in Nigeria has a long history, especially among those groups where it was not forbidden by religion. In the traditional era, alcohol played complex roles in the socio-cultural relationships of different communities. It was used for rituals, marriage ceremonies, chieftaincy enthronements, etc. It was mainly consumed by male adults for pleasure while females and youths were culturally restrained from drinking. Excess consumption was not a norm and intoxication attracted negative sanctions. In the contemporary Nigerian society, patterns of consumption are changing rapidly following the socio-political and economic development of Nigeria, giving rise to new norms of alcohol use. This review examines the influence of disintegration of traditional values, nonregulation, advertising and other factors on these changing patterns of alcohol consumption. It concludes by exploring the consequences of these changing patterns and suggests some remedies for contemporary Nigerian society.
Two-chip InGaAs-InP Fabry-Perot p-i-n receiver for WDM systems

For the first time a two-chip wavelength-selective InGaAs-InP Fabry-Perot p-i-n receiver for dense wavelength-division-multiplexed systems is presented. This concept allows one to easily place the p-i-n diode outside the resonant cavity. A cavity length of more than 30 /spl mu/m is applied to obtain a small optical bandwidth of the receiver. The device can be combined with micromachined actuators for wavelength tuning. First measurements of the receiver showed a full-width at half-maximum bandwidth of 0.6 nm and a finesse of 53. The overall losses of the receiver including fiber-to-chip coupling losses are 6.6 dB.
[Causes-of-death statistics].

This article gives an overview of recent statistics on causes of death in the European Union (EU) . By relating all deaths in the population to an underlying cause of death, the risks associated with death from a range of specific diseases and other causes can be assessed; these figures can be further analysed by age, sex, country where the death occurred / residency of the deceased, and region ( NUTS level 2), using standardised death rates .
Effectiveness of Community Participation in Earthquake Preparedness: A Community-Based Participatory Intervention Study of Tehran

Abstract Objective The aim of this study was to evaluate the effectiveness of a community-based participatory intervention on earthquake preparedness in Tehran. Methods This community-engaged research was conducted during 2011 to 2013. An intervention and a control neighborhood were chosen through systematic cluster sampling. In the intervention group 305 households and in the control group 314 households were sampled for pre- and post-assessment surveys. A participatory intervention was designed on the basis of consultation with the community advisory board and was implemented by trained volunteers. Changes in outcome variables in the intervention and control groups were detected in terms of knowledge, attitude, and practice. Pearson chi-square tests and covariance regression were used to evaluate the effectiveness of the intervention. Results The results showed that the frequency of earthquake experience in the intervention and control groups was 69.2% and 79.0%, respectively. Moreover, the mean difference scores in knowledge, attitude, and practice in the intervention and control groups before and after the intervention were significant (P<0.001). Conclusions A participatory intervention effectively improved disaster preparedness at a community level. To ensure sustainability, the participatory approach should be integrated into public health disaster planning. (Disaster Med Public Health Preparedness. 2016;10:211–218)
Superoxide dismutase (SOD) as a potential inhibitory mediator of inflammation via neutrophil apoptosis

Superoxide dismutase (SOD) is supposed to be an effective agent for neutrophil-mediated inflammation in the area of critical medicine. We investigated the involvement of SOD in the regulation of neutrophil apoptosis. Exogenously added SOD effectively induced neutrophil apoptosis, and the fluorescence patterns determined using annexin-V and the 7-AAD were similar to those seen in Fas-mediated neutrophil apoptosis. Neutrophils are short-lived leukocytes that need to be removed safely by apoptosis. The clearance of apoptotic neutrophils from sites of inflammation is a crucial determinant of the resolution of inflammation. Catalase inhibited the neutrophil apoptosis and caspase-3 activation. Spontaneous apoptosis, hydrogen peroxide and anti-Fas antibody-induced apoptosis of neutrophils were accelerated in Down's syndrome patients, in whom the SOD gene is overexpressed. Hydrogen peroxide was thought to be a possible major mediator of ROS-induced neutrophil apoptosis in caspase-dependent manner. Neutrophil apoptosis represents a crucial step in the mechanism governing the resolution of inflammation and has been suggested as a possible target for the control of neutrophil-mediated tissue injury. SOD may be a potential inhibitory mediator of neutrophil-mediated inflammation.
On Designing Paired Comparison Experiments for Subjective Multimedia Quality Assessment

This paper investigates the issue of designing paired comparison-based subjective quality assessment experiments for reliable results. In particular, the convergence behavior of the quality scores estimated from paired comparison results is considered. Via an extensive computer simulation experiment, the estimation performance in terms of the root mean squared error, the rank order correlation coefficient, and the change of the estimated scores with respect to the number of subjects are mathematically modeled. Furthermore, it is confirmed that the models coincide with the theoretical convergence behavior. Issues such as the effect of human errors and the underlying distribution of the true quality scores are also examined.
Association of Helicobacter pylori with coronary artery disease and myocardial infarction assessed by myocardial perfusion imaging.

BACKGROUND The relationship between Helicobacter pylori infection and coronary artery disease (CAD) has as yet not been fully examined. The myocardial perfusion imaging (MPI) stress test has proven its efficacy as an integral part of diagnosing CAD. OBJECTIVES To investigate the association between CAD and H. pylori infection using MPI. METHODS This prospective study evaluated CAD positivity among consecutive patients referred to a tertiary medical center for a stress/rest MPI. All patients were tested for serum anti-H. pylori and CagA protein immunoglobulin G antibodies. The CAD positivity group included patients with ischemia and/or myocardial infarction (MA) on a stress MPI, coronary artery bypass graft surgery (CABG), or percutaneous coronary interventions (PCI). CAD-negative subjects were defined as participants with a normal MPI, no pathological Q waves in resting ECG tracing, and no history of CAD. Both groups were compared for H. pylori and CagA seropositivity. Patients' demographic data, risk factors for CAD, and childhood socioeconomic status were recorded. RESULTS The study group consisted of 300 consecutive patients, 170 men and 130 women; 64% (110/173) CAD-positive patients and 47% (60/127) CAD-negative participants were found seropositive for H. pylori infection (P = 0.005). In the adjusted analysis, H. pylori infection was found to be associated with CAD positivity (odds ratio 1.83, 95% confidence interval 1.06-3.17, P = 0.031), and MI (fixed perfusion defects on MPI) (OR 3.36, 95% CI 1.44-7.84, P = 0.005). No association was noted with CagA positivity. CONCLUSIONS In patients undergoing a stress MPI, serum anti-H. pylori antibodies positivity was found to be associated with CAD, independent of traditional cardiovascular risk factors.
Racial and Ethnic Disparities in Healthcare-Associated Infections in the United States, 2009–2011

Background. Little is known about racial and ethnic disparities in the occurrence of healthcare-associated infections (HAIs) in hospitalized patients. Objective. To determine whether racial/ethnic disparities exist in the rate of occurrence of HAIs captured in the Medicare Patient Safety Monitoring System (MPSMS). Methods. Chart-abstracted MPSMS data from randomly selected all-payer hospital discharges of adult patients (18 years old or above) between January 1, 2009, and December 31, 2011, for 3 common medical conditions: acute cardiovascular disease (composed of acute myocardial infarction and heart failure), pneumonia, and major surgery for 6 HAI measures (hospital-acquired antibiotic-associated Clostridium difficile, central line-associated bloodstream infections, postoperative pneumonia, catheter-associated urinary tract infections, hospital-acquired methicillin-resistant Staphylococcus aureus, and ventilator-associated pneumonia). Results. The study sample included 79,019 patients who had valid racial/ethnic information divided into 6 racial/ethnic groups—white non-Hispanic (n = 62,533), black non-Hispanic (n = 9,693), Hispanic (n = 4,681), Asian (n = 1,225), Native Hawaiian/Pacific Islander (n = 94), and other (n = 793)—who were at risk for at least 1 HAI. The occurrence rate for HAIs was 1.1% for non-Hispanic white patients, 1.3% for non-Hispanic black patients, 1.5% for Hispanic patients, 1.8% for Asian patients, 1.7% for Native Hawaiian/Pacific Islander patients, and 0.70% for other patients. Compared with white patients, the age/gender/comorbidity-adjusted odds ratios of occurrence of HAIs were 1.1 (95% confidence interval [CI], 0.99-1.23), 1.3 (95% CI, 1.15-1.53), 1.4 (95% CI, 1.07-1.75), and 0.7 (95% CI, 0.40-1.12) for black, Hispanic, Asian, and a combined group of Native Hawaiian/Pacific Islander and other patients, respectively. Conclusions. Among patients hospitalized with acute cardiovascular disease, pneumonia, and major surgery, Asian and Hispanic patients had significantly higher rates of HAIs than white non-Hispanic patients.
Spontaneous mouse mammary tumor cell lysates induce IgG production in spleen mononuclear cells of healthy and tumor-bearing mice

ABSTRACT Background. We hypothesized that Tumor cell lysate (TCL) prepared from spontaneous mouse mammary tumor (SMMT) may elicit IgG production by spleen mononuclear cells (SMCs) in ex vivo. Methods. The SMCs from healthy mice (HM, n = 6) and four-week SMMT-bearing mice (TBM, n = 6) was cultured in presence of TCL and mitogen for 42 hr at 37°C, separately. Serum and SMCs culture supernatant levels of IFNγ, IL-4, and total IgG were measured using special ELISA kits. Results. Serum IgG level of TBM was significantly higher than that of HM group (P = 0.019), while serum IFNγ and IL-4 did not differ between two groups (P > 0.05). Mitogen significantly induced ex vivo production of both IFNγ (P = 0.013) and IL-4 (P = 0.015) by SMCs from HM group, and only IL-4 (P = 0.049) by SMCs from TBM group. In contrast, TCL increased ex vivo production of IgG by SMCs from both HM (P = 0.034) and TBM (P = 0.016) groups. The ex vivo IgG revealed a moderate positive correlation with tumor size (r = 0.578, P = 0.422). Conclusion. It seems that TCL prepared from SMMT are potent inducers of IgG production. This may propose TCL as a potential tool for monitoring of humoral immunity in animal models.
24 h Accelerometry: impact of sleep-screening methods on estimates of sedentary behaviour and physical activity while awake

Abstract Although accelerometers can assess sleep and activity over 24 h, sleep data must be removed before physical activity and sedentary time can be examined appropriately. We compared the effect of 6 different sleep-scoring rules on physical activity and sedentary time. Activity and sleep were obtained by accelerometry (ActiGraph GT3X) over 7 days in 291 children (51.3% overweight or obese) aged 4–8.9 years. Three methods removed sleep using individualised time filters and two methods applied standard time filters to remove sleep each day (9 pm–6 am, 12 am–6 am). The final method did not remove sleep but simply defined non-wear as at least 60 min of consecutive zeros over the 24-h period. Different methods of removing sleep from 24-h data markedly affect estimates of sedentary time, yielding values ranging from 556 to 1145 min/day. Estimates of non-wear time (33–193 min), wear time (736–1337 min) and counts per minute (384–658) also showed considerable variation. By contrast, estimates of moderate-to-vigorous activity (MVPA) were similar, varying by less than 1 min/day. Different scoring methods to remove sleep from 24-h accelerometry data do not affect measures of MVPA, whereas estimates of counts per minute and sedentary time depend considerably on which technique is used.