Miracle-dz/UniFAR-FTUs huggingface dataset:
Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome

Quantitative and qualitative alterations of mitochondrial cardiolipin have been implicated in the pathogenesis of Barth syndrome, an X-linked cardioskeletal myopathy caused by a deficiency in tafazzin, an enzyme in the cardiolipin remodeling pathway. We have generated and previously reported a tafazzin-deficient Drosophila model of Barth syndrome that is characterized by low cardiolipin concentration, abnormal cardiolipin fatty acyl composition, abnormal mitochondria, and poor motor function. Here, we first show that tafazzin deficiency in Drosophila disrupts the final stage of spermatogenesis, spermatid individualization, and causes male sterility. This phenotype can be genetically suppressed by inactivation of the gene encoding a calcium-independent phospholipase A2, iPLA2-VIA, which also prevents cardiolipin depletion/monolysocardiolipin accumulation, although in wild-type flies inactivation of the iPLA2-VIA does not affect the molecular composition of cardiolipin. Furthermore, we show that treatment of Barth syndrome patients' lymphoblasts in tissue culture with the iPLA2 inhibitor, bromoenol lactone, partially restores their cardiolipin homeostasis. Taken together, these findings establish a causal role of cardiolipin deficiency in the pathogenesis of Barth syndrome and identify iPLA2-VIA as an important enzyme in cardiolipin deacylation, and as a potential target for therapeutic intervention.
Effect of optic neuritis on progressive axonal damage in multiple sclerosis patients

Objective: The objective of this research was to study the effect of optic neuritis (ON) on axonal damage in multiple sclerosis (MS) patients. Specifically, we compared changes over 2 years in the retinal nerve fibre layer (RNFL) between affected and contralateral eyes in MS patients with a prior history of ON. Methods: Thirty-four patients with one unilateral definitive episode of ON were included and underwent a complete ophthalmic examination, optical coherence tomography (OCT), scanning laser polarimetry, visual evoked potentials (VEP) and pattern electroretinogram (pERG). All patients were re-evaluated at 12 and 24 months. Parameters were compared between ON-affected and contralateral eyes in an initial exploration and over the course of the follow-up. Correlations between parameter changes were analysed. Results: RNFL thickness and functional parameters showed more affection in ON eyes (p ≤ 0.05), but changes in measurements during the study were similar between both groups of eyes. Conclusions: Progressive axonal loss can be detected in the optic nerve, but ON is not a risk factor for increased chronic damage in MS patients without ophthalmic relapses. Loss of the RNFL is caused by progressive degeneration associated with the disease.
Critical mass transfer in double-degenerate Type Ia supernovae

Doubly-degenerate binary systems consisting of two white dwarfs (WDs) both composed of carbon and oxygen and close enough that mass is transferred from the less massive to the more massive are possible progenitors of Type Ia supernovae. If the mass-transfer rate is slow enough that the accreting WD can reach a mass of 1.38 M ⊙ , then it can ignite carbon degenerately at its centre. This can lead to a thermonuclear runaway and hence a supernova explosion. However, if the accretion rate is too high the outer layers of the WD heat up too much and carbon ignites there non-degenerately. A series of mild carbon flashes can then propagate inwards and convert the carbon to neon relatively gently. There is no thermonuclear runaway and no supernova. We examine the critical accretion rate at which ignition switches from the centre to the surface for a variety of WDs and find it to be about two-fifths of the Eddington rate. In a real binary star, the mass-transfer rate falls off as mass transfer proceeds and the system widens. Even if the initial transfer rate is high enough for carbon to ignite at the outer edge, if such rapid accretion were to persist, we find that it can extinguish if the rate drops sufficiently quickly. The interior of the WD remains carbon rich and; if sufficient mass can still be transferred from the companion, it can eventually ignite degenerately at the centre. The primary WD must be about 1.1 M ⊙ or above and the companion about 0.3 M ⊙ . Though WDs of such low mass are expected to be pure helium, we note that a star of initial mass 2.5 M ⊙ has a CO core of about 0.3 M ⊙ when it begins to ascend the asymptotic giant branch. Alternatively, if the accretion rate can be limited to a maximum of 0.46 of the Eddington rate, then a 1.1-M ⊙ WD accretes sufficiently slowly to explode from a companion WD of any large enough mass.
Arabic Light Stemmer : Anew Enhanced Approach

In general, word stemming is one of the most important factors that affect the performance of information retrieval systems. The optimization issues of Arabic light stemming algorithm as a main component in natural language processing and information retrieval for Arabic language are based on root-pattern schemes. Since Arabic language is a highly inflected language and has a complex morphological structure than English, it requires superior stemming algorithms for effective information retrieval. This paper reports on the enhancement of a TREC-2002 Arabic light stemmer presented by Kareem Darwish, University of Maryland. Five stemming algorithms are proposed that result in significantly better Arabic stemming outcomes in comparison with the TREC-2002 algorithm.
Weight change and changes in the metabolic syndrome as the French population moves towards overweight: the D.E.S.I.R. cohort.

BACKGROUND How weight change affects the metabolic syndrome (MS) and its parameters is unknown, particularly, in a leaner European population such as the French prospective D.E. S.I. R. cohort. METHODS In 3770 D.E. S.I. R. participants (sex ratio=1) averaging 47.5 years (range 30-64), with measured weight and MS parameters at baseline (D0) and at 6 year follow-up (D6), we assessed this relationship across five weight-change classes, using stable weight as the referent group (-2 to +2 kg). We used analysis-of-covariance to assess changes in each MS parameter and logistic regression to assess incident MS, according to the National Cholesterol Education Program (NCEP). We also assessed weight-change effect on MS status between D0 and D6. RESULTS At D0, average weight was 68.4 kg (SD 12.3); BMI was 24.8 kg/m2 (SD 3.5). From D0-D6, the cohort gained a mean 2.1 kg (median 2.0; SD 4.4). After adjustment for age and D0 weight, there was a strong linear relationship with weight change and worsening of the following MS parameters at D6: fasting insulin, waist girth, fasting glucose, fasting triglycerides, HDL cholesterol, and systolic and diastolic blood pressure (P<0.0001). After age adjustment, for every kilogram gained over 6 years, risk of developing the NCEP Syndrome increased 22% (OR 1.22; 95% CI 1.18-1.25). NCEP-MS was incident in 3% of those with stable weight compared with 21% among those gaining >9 kg; 10% of those who lost >2 kg reverted to non-NCEP-MS. CONCLUSIONS All continuous MS measures are linearly related to weight change, and MS can resolve with modest weight loss, underscoring the importance of maintaining lifelong normal weight.
Model-free path planning for redundant robots using sparse data from kinesthetic teaching

The paper addresses path planning for a redundant robot arm that is maneuvering in confined spaces, where neither an explicit model nor external perception of the possibly frequently changing environment is available. Our approach is rather solely based on data from kinesthetic demonstrations of feasible configurations provided by a user. The key challenge is to create a graph-based representation of the demonstrated free space incrementally and online by means of an specifically tailored instantaneous topological map at runtime. Subsequent application of standard graph-based planning in combination with a learned generalization of the demonstrated redundancy resolution then enables the robot to safely move in the realm of the demonstrated task space areas. This model-free approach greatly enhances configurability and flexibility of the robot for assistance applications, where movement capabilities need to be realized without explicit programming.
Characterization of V3 Sequence Heterogeneity in Subtype C Human Immunodeficiency Virus Type 1 Isolates from Malawi: Underrepresentation of X4 Variants

ABSTRACT We have examined the nature of V3 sequence variability among subtype C human immunodeficiency virus type 1 (HIV-1) sequences from plasma-derived viral RNA present in infected men from Malawi. Sequence variability was assessed by direct sequence analysis of the V3 reverse transcription-PCR products, examination of virus populations by a subtype C V3-specific heteroduplex tracking assay (V3-HTA), and selected sequence analysis of molecular clones derived from the PCR products. Sequence variability in V3 among the subtype C viruses was not associated with the presence of basic amino acid substitutions. This observation is in contrast to that for subtype B HIV-1, where sequence variability is associated with such substitutions, and these substitutions are determinants of altered coreceptor usage. Evolutionary variants in subtype C V3 sequences, as defined by the V3-HTA, were not correlated with the CD4 level in the infected person, while such a correlation was found with subtype B V3 sequences. Viruses were isolated from a subset of the subjects; all isolates used CCR5 and not CXCR4 as a coreceptor, and none was able to grow in MT-2 cells, a hallmark of the syncytium-inducing phenotype that is correlated with CXCR4 usage. The overall sequence variability of the subtype C V3 region was no greater than that of the conserved regions of gp120. This limited sequence variability was also a feature of subtype B V3 sequences that do not carry the basic amino acid substitutions associated with altered coreceptor usage. Our results indicate that altered coreceptor usage is rare in subtype C HIV-1 isolates in sub-Saharan Africa and that sequence variability is not a feature of the V3 region of env in the absence of altered coreceptor usage.
Attention, Representation, and Human Performance : Integration of Cognition, Emotion, and Motivation

S. Masmoudi, Toward an Integrative Understanding of Cognitive, Emotional, and Motivational Processes. Part 1. The Role of Emotion and Motivation in Attention and Perception. A. Baddeley, How Does Emotion Influence Working Memory? S. Fruhholz, D. Grandjean, Dynamical Interactions of Attention and Emotion: A Cognitive Neuroscience Approach Through Neural Network Connectivity. M. Mermillod, Investigating the Psychological and Neural Basis of Emotional Processing. S. Gil, S. Droit-Volet, How Do Emotional Facial Expressions Influence Our Perception of Time? Part 2. Representation and Processing, and the Role of Emotion and Motivation. A. -L. Gilet, C. Jallais, Mood's Influence on Semantic Memory: Valence or Arousal? R. Batt, C. van Leeuwen, Neuroaesthetics and the Art of Representation. M. Sklad, Motivation and Construction of Retrospective Opinions. G. Morgavi, L. Marconi, M. Morando, P. Cutugno, From Human Creative Cognitive Processes to Adaptable Artificial System Design. Y.I. Russell, R.I. M. Dunbar, F. Gobet, Euphoria Versus Dysphoria: Differential Cognitive Roles in Religion. Part 3. The Role of Emotion and Motivation in Human Performance. E. Clement, Is it Possible to Solve A Problem Without Emotion? N. Bonnardel, Cognition and Emotion in Creative Design. S. Masmoudi, The Decision Process is by Definition Irrational. D.Y. Dai, R. Sun, Where is the Unity of Attention, Representation, and Human Performance? A Commentary.
Genetic polymorphisms associated with heart failure: A literature review

Objective To review possible associations reported between genetic variants and the risk, therapeutic response and prognosis of heart failure. Methods Electronic databases (PubMed, Web of Science and CNKI) were systematically searched for relevant papers, published between January 1995 and February 2015. Results Eighty-two articles covering 29 genes and 39 polymorphisms were identified. Conclusion Genetic association studies of heart failure have been highly controversial. There may be interaction or synergism of several genetic variants that together result in the ultimate pathological phenotype for heart failure.
SPATIOTEMPORAL BRAIN DYNAMICS OF INHIBITORY CONTROL IN ADOLESCENTS AND YOUNG ADULTS

Inhibitory control, the ability to inhibit impulsive responses in favor of voluntary responses, remains immature during adolescence. Although this behavior has been well documented, the cognitive and neural processes associated with immature inhibitory control during adolescence are still not well understood. To address this question, we collected Magnetoencephalography (MEG) data from 17 adolescents (age 14-16) and 20 adult participants (age 20-30), where participants performed the antisaccade (AS) and control prosaccade (PS) tasks. Leveraging MEG’s high temporal resolution, our goal was to delineate developmental changes in local neural oscillations and inter-regional neural synchronization associated with preparatory inhibitory control. Participants were shown a preparatory cue (a red “x” for AS or a green “x” for PS) for 1500 ms, followed by a peripheral target where participants were instructed to make a saccade toward (PS) or away (AS) from the target. Neural activity estimates from a priori brain regions were then extracted for oscillatory power and phase synchrony analyses. We found that compared to adults, adolescents showed decreased alpha-band power in the oculomotor regions in preparation to inhibit an upcoming reflexive saccade, suggesting immaturities in functional inhibition of task-inappropriate activity. Furthermore, adolescents showed weaker beta-band power in prefrontal cognitive control regions, which could reflect less robust top-down biasing of sensory and motor processes. Lastly, we found that adolescents showed decreased levels of phase synchrony between frontal and parietal regions, possibly reflecting immaturities in iv coordinating distributed cortical activities. Our results suggest that immaturities in functional inhibition, top-down control, and inter-regional synchrony collectively contribute to immature inhibitory control during adolescence.
Variation in plasma lipids during the reproductive cycle of male and female desert tortoises, Gopherus agassizii.

Plasma triacylglycerol, phospholipid, cholesterol, cholesterol esters, fatty acids, and total lipids were measured in 30 female and 20 male desert tortoises (Gopherus agassizii) during the annual reproductive cycle in the eastern Mojave desert, Nevada. Blood samples were collected at monthly intervals from April to October. All lipid fractions, with the exception of free fatty acids, were significantly higher in female plasma than in male plasma in all months of the year. In contrast, free fatty acids were higher in male plasma than in female plasma in all months. The seasonal pattern in estradiol secretion mirrored that of triacylglycerol, phospholipid, cholesterol, and total lipid, all of which showed a significant correlation with the hormone. Estradiol and the vitellogenesis-associated lipids were all significantly higher in August, September, October, and April than in June. The seasonal variation in cholesterol ester levels in females did not correlate with any of the reproductive events and did not appear to be involved in yolk precursor formation. Total lipid in males showed a negative correlation with testosterone and spermatogenesis. Individual fatty acids in the June and August samples (at the highest and lowest estradiol levels) were compared in male and female plasma. The percent of C18:3n3, C18:2n6, C18:1n9, C20:5n3, and C22:5 were significantly higher in the June female plasma sample than in the August sample. Docosahexanoic (C22:6n3) acid was barely detectable in female plasma in either month.
Survival of HIV-infected patients with compensated liver cirrhosis

Introduction:Since the advent of HAART, liver-related mortality has become the leading cause of non-AIDS deaths in HIV-infected patients in western countries, complications of end-stage liver disease due to chronic hepatitis B, chronic hepatitis C or both being mainly responsible. Methods:The incidence and predictors of mortality were examined in HIV-infected patients with compensated liver cirrhosis. The accuracy of three different methods (elastometry, Child–Pugh and Model for End-Stage Liver Disease scores) to predict mortality was further examined. Cirrhosis was defined for hepatic elastometry values above 14.5 kPa. Results:A total of 194 (11.4%) out of 1706 HIV-positive individuals were cirrhotic and were prospectively followed since October 2004 until December 2008. Overall, 89% of cirrhotic individuals had chronic hepatitis C, 10.3% chronic hepatitis B, 4.6% hepatitis delta and 4.1% liver disease of other causes or unknown cause. The overall mortality rate was 5.8 deaths per 100 patient-years. Multivariate analyses showed that age of at least 50 years (hazard ratio 4.76, 95% confidence interval 1.66–13.59, P = 0.004), CD4 cell counts below 200 cells/μl (hazard ratio 3.01, 95% confidence interval 1.26–7.23, P = 0.03) and detectable plasma HIV-RNA (hazard ratio 3.97, 95% CI, 1.53–10.27, P = 0.005) were associated with mortality. A baseline Model for End-stage Liver Disease score of at least 11 (P = 0.03) and hepatic elastometry values above 28.75 kPa (P = 0.001) were independent predictors of mortality. Conclusion:The death rate in HIV-infected patients with compensated liver cirrhosis in the HAART era is 5.8% yearly, higher than mortality previously reported for either HIV-uninfected individuals with cirrhosis or noncirrhotic HIV-positive patients. Factors associated with mortality were older age, low CD4 cell counts and detectable plasma HIV-RNA. Both Model for End-Stage Liver Disease and especially hepatic elastometry accurately predicted mortality in this population.
Low use of mental health services among older Americans with mood and anxiety disorders.

OBJECTIVE It is unclear why late-life mood and anxiety disorders are highly undertreated, despite being common among older adults. Thus this study examined prevalence of and key factors associated with nonuse of mental health services among older community-dwelling adults with these disorders. METHODS The sample included 348 participants aged 55 years or older who met 12-month criteria for DSM-IV mood and anxiety disorders and responded to the National Comorbidity Survey Replication (NCS-R), a population-based probability sample. Analyses included frequency measures and logistic regression with weights and complex design-corrected statistical tests. Key factors associated with not using mental health services were determined in a final multivariable model based on a systematic approach that accounted for a comprehensive list of potential predictors. RESULTS Approximately 70% of older adults with mood and anxiety disorders did not use services. Those who were from racial-ethnic minority groups, were not comfortable with discussing personal problems, were married or cohabitating, and had middle- versus high-income status had increased odds of not using mental health services. In addition, respondents with mild versus serious disorders, no chronic pain complaints, and low versus high perceived cognitive impairment had greater odds of nonuse. CONCLUSIONS Results indicate that improvements are needed in the following areas to combat the very high number of mood and anxiety disorders that go untreated in older Americans: awareness of need, comfort in discussing personal problems with a health care professional, and screening and other prevention efforts.
Anxiety, depression and hopelessness in adolescents: a structural equation model.

OBJECTIVE This study tested a structural model, examining the relationship between a latent variable termed demoralization and measured variables (anxiety, depression and hopelessness) in a community sample of Canadian youth. METHODS The combined sample consisted of data collected from four independent studies from 2001 to 2005. Nine hundred and seventy one (n=971) participants were high school students (grades 10-12) from three geographic locations: Calgary, Saskatchewan and Lethbridge. Participants completed the Beck Anxiety Inventory (BAI), Beck Depression Inventory-Revised (BDI-II), Beck Hopelessness Scale (BHS), and demographic survey. Structural equation modeling was used for statistical analysis. RESULTS The analysis revealed that the final model, including depression, anxiety and hopelessness and one latent variable demoralization, fit the data (chi-square value, X(2) (2) = 7.25, p< . 001, goodness of fit indices (CFI=0.99, NFI=0.98) and standardized error (0.05). Overall, the findings suggest that close relationships exist among depression, anxiety, hopelessness and demoralization that is stable across demographic variables. Further, the model explains the relationship between sub-clinical anxiety, depression and hopelessness. CONCLUSION These findings contribute to a theoretical framework, which has implications for educational and clinical intervention. The present findings will help guide further preventative research on examining demoralization as a precursor to sub-clinical anxiety and depression.
Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study

Objectives To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down’s syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates in the screened population in 2005 and 2006. Design Population based cohort study. Setting 19 Danish departments of gynaecology and obstetrics and a central cytogenetic registry 2000-7. Participants 65 000 pregnancies per year. Main outcome measures The primary outcomes measured were number of fetuses and newborn infants with Down’s syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants with a postnatal diagnosis of Down’s syndrome. Results The number of infants born with Down’s syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection rate in the screened population in 2005 was 86% (95% confidence interval 79% to 92%) and in 2006 was 93% (87% to 97%). The corresponding false positive rates were 3.9% (3.7% to 4.1%) and 3.3% (3.1% to 3.4%). Conclusion The introduction of a combined risk assessment during the first trimester at a national level in Denmark halved the number of infants born with Down’s syndrome. The strategy also resulted in a sharp decline in the number of chorionic villus samplings and amniocenteses carried out, even before full implementation of the policy.