jimnoneill/paper-to-field-training huggingface dataset:
Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-likebehavior: an all-in approach to solving the DPYD enigma

Abstract We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic features, and hyperactivity with elements of autism spectrum disorder (ASD). Several important neurodevelopmental genes are affected by the 3.56 Mb copy number gain of 1p21.3p21.2, which may be considered reciprocal in gene content to the recently recognized 1p21.3 microdeletion syndrome. Both 1p21.3 deletions and the presented duplication display overlapping symptoms, fitting the same disorder category. Contribution of coding and non-coding genes to the phenotype is discussed in the light of cellular and intercellular homeostasis disequilibrium. In line with this the presented 1p21.3p21.2 copy number gain correlated to 1p21.3 microdeletion syndrome verifies the hypothesis of a cumulative effect of the number of deregulated genes - homeostasis disequilibrium leading to overlapping phenotypes between microdeletion and microduplication syndromes. Although miR-137 appears to be the major player in the 1p21.3p21.2 region, deregulation of the DPYD (dihydropyrimidine dehydrogenase) gene may potentially affect neighboring genes underlying the overlapping symptoms present in both the copy number loss and copy number gain of 1p21. Namely, the all-in approach revealed that DPYD is a complex gene whose expression is epigenetically regulated by long non-coding RNAs (lncRNAs) within the locus. Furthermore, the long interspersed nuclear element-1 (LINE-1) L1MC1 transposon inserted in DPYD intronic transcript 1 (DPYD-IT1) lncRNA with its parasites, TcMAR-Tigger5b and pair of Alu repeats appears to be the “weakest link” within the DPYD gene liable to break. Identification of the precise mechanism through which DPYD is epigenetically regulated, and underlying reasons why exactly the break (FRA1E) happens, will consequently pave the way toward preventing severe toxicity to the antineoplastic drug 5-fluorouracil (5-FU) and development of the causative therapy for the dihydropyrimidine dehydrogenase deficiency.

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
Proximal Neuromuscular Control Protects Against Hamstring Injuries in Male Soccer Players: A Prospective Study With Electromyography Time-Series Analysis During Maximal Sprinting

Background: With their unremittingly high incidence rate and detrimental functional repercussions, hamstring injuries remain a substantial problem in male soccer. Proximal neuromuscular control (“core stability”) is considered to be of key importance in primary and secondary hamstring injury prevention, although scientific evidence and insights on the exact nature of the core-hamstring association are nonexistent at present. Hypothesis: The muscle activation pattern throughout the running cycle would not differ between participants based on injury occurrence during follow-up. Study Design: Case-control study; Level of evidence, 3. Methods: Sixty amateur soccer players participated in a multimuscle surface electromyography (sEMG) assessment during maximal acceleration to full-speed sprinting. Subsequently, hamstring injury occurrence was registered during a 1.5-season follow-up period. Hamstring, gluteal, and trunk muscle activity time series during the airborne and stance phases of acceleration were evaluated and statistically explored for a possible causal association with injury occurrence and absence from sport during follow-up. Results: Players who did not experience a hamstring injury during follow-up had significantly higher amounts of gluteal muscle activity during the front swing phase ( P = .027) and higher amounts of trunk muscle activity during the backswing phase of sprinting ( P = .042). In particular, the risk of sustaining a hamstring injury during follow-up lowered by 20% and 6%, with a 10% increment in normalized muscle activity of the gluteus maximus during the front swing and the trunk muscles during the backswing, respectively ( P &lt; .024). Conclusion: Muscle activity of the core unit during explosive running appeared to be associated with hamstring injury occurrence in male soccer players. Higher amounts of gluteal and trunk muscle activity during the airborne phases of sprinting were associated with a lower risk of hamstring injuries during follow-up. Hence, the present results provide a basis for improved, evidence-based rehabilitation and prevention, particularly focusing on increasing neuromuscular control of the gluteal and trunk muscles during sport-specific activities (eg, sprint drills, agility drills).

Topic: Sports injuries and prevention
Subfield: Orthopedics and Sports Medicine
Field: Medicine
Domain: Health Sciences
Attitude of a Discrete Group of Nigerian Male Doctors Towards Prostate Cancer Screening

Introduction: Prostate cancer is the commonest cancer among Nigerian males [1]. Screening for prostate cancer is a topical issue among doctors as some studies have not conclusively shown higher survival rate among patients who had their pathology detected early. Taking into consideration the uncertainty surrounding prostate cancer screening, coupled with the fact that doctors are most of the time overwhelmed with solving the problems of their patients while neglecting their personal health. This study assesses the attitude of a discrete group of Nigerian doctors towards prostate cancer screening. Objective: To assess the attitude towards prostate cancer screening of male medical doctors in public hospitals in Benin City, Nigeria. Methodology: This was a cross-sectional study carried out over a period of six months at theUniversity of Benin Teaching Hospital (UBTH) and the Central Hospital Benin City. It involved all male doctors, 40 years and above. Data were collected using a well-structured self-administered questionnaire, collated and subjected to statistical analysis. Result: The study involved 214 male doctors. One hundred and fifty two of them practice in UBTH, while 62 of them practice in Central Hospital. The mean (standard deviation) age of the respondents was 48.5 (6.3) years. Ninety five percent (205) of the respondents had positive attitude towards prostate cancer screening. The main factors indicated by the respondents that affect individual decision to undergo prostate cancer screening were: the cost of screening [151 (70.6%)], lack of awareness [138 (64.5%)], fear of being stigmatized [97 (45.3%)] and fear of having a positive test [91 (42.5%)]. The least indicated was cultural barriers [42 (19.6%)]. Conclusion: The attitude of the respondents for prostate cancer screening isgood despite the challenges with recommendation against community screening by international health management system. The main factors identified by respondents as militating against screening should be given proper attention in order to reduce the scourge of this highly prevalent pathology among Nigerians.

Topic: Global Cancer Incidence and Screening
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
« Assouvir sa rancoeur » : le vengeur désenchanté chez Bokar N’Diaye et Patrick Serge Boutsindi

This article analyses mechanisms of the organisation and the functioning of the discourse of vengeance in the francophone African novel through an examination of Bokar N’Diaye’s La Mort des fétiches de Sénédougou and Patrick Serge Boutsindi’s L’heure de la vengeance à Quenzé. From the avenger malgré lui to the disenchanted avenger, we discover a writing that explores the complexity of human emotions, such as anger, rancour, pride, honour, jealousy, rage and hate. In hypothesising that these two texts play with a fundamental ambivalence, reinforced by the semiotics of contempt, this article aims to study the methods through which writing links vengeance to social and cultural issues.

Topic: Linguistics and Discourse Analysis
Subfield: Philosophy
Field: Arts and Humanities
Domain: Social Sciences
Noradrenergic and Cholinergic Modulation of Belief Updating

To make optimal predictions in a dynamic environment, the impact of new observations on existing beliefs—that is, the learning rate—should be guided by ongoing estimates of change and uncertainty. Theoretical work has proposed specific computational roles for various neuromodulatory systems in the control of learning rate, but empirical evidence is still sparse. The aim of the current research was to examine the role of the noradrenergic and cholinergic systems in learning rate regulation. First, we replicated our recent findings that the centroparietal P3 component of the EEG—an index of phasic catecholamine release in the cortex—predicts trial-to-trial variability in learning rate and mediates the effects of surprise and belief uncertainty on learning rate (Study 1, n = 17). Second, we found that pharmacological suppression of either norepinephrine or acetylcholine activity produced baseline-dependent effects on learning rate following nonobvious changes in an outcome-generating process (Study 1). Third, we identified two genes, coding for α2A receptor sensitivity ( ADRA2A) and norepinephrine reuptake ( NET), as promising targets for future research on the genetic basis of individual differences in learning rate (Study 2, n = 137). Our findings suggest a role for the noradrenergic and cholinergic systems in belief updating and underline the importance of studying interactions between different neuromodulatory systems.

Topic: Receptor Mechanisms and Signaling
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
Pornography as a Source of Sex Information for University Students: Some Consistent Findings

This study is an empirical investigation of how 184 college students have obtained their knowledge of sexual matters and whether pornography functioned as an important educational source. Findings are contrasted with those of three other empirical studies. Present findings, much like the others, appear to indicate that pornography does not play an important role in the dissemination of sexual information; peers appear to be the primary source of information. However, there are certain statistically significant differences between the sexes when reporting the extent of sexual information gleaned from pornography.

Topic: Sexuality, Behavior, and Technology
Subfield: Clinical Psychology
Field: Psychology
Domain: Social Sciences
Awareness, treatment rates and compliance to treatment in patients with serum LDL cholesterol higher than 250 mg/dL, and possible, probable and definite familial hypercholesterolemia

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Topic: Lipoproteins and Cardiovascular Health
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
The genetic polymorphism and beta-adrenoblockers metabolism

The genetic polymorphism of the enzymes involved in the metabolism of drugs, including beta-adrenoblockers, is responsible for the efficacy and harmlessness of pharmacotherapy and is considered a key area in performing personalized treatment. The variability of cytochrome P-450 isoenzymes, especially CYP2D6, CYP3A4, CYP2C9 and CYP 2C19, will cause essential changes in the pharmacokinetic and pharmacodynamic properties of beta-adrenoblockers. The particularities of metabolism by means of different isoenzymes will determine the rational selection of beta-adrenoblockers for performing an individualized treatment with adjustment of the dosage regimen.

Topic: Diet and metabolism studies
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open innovation: on the influence of internal and external collaboration on degree of newness

Purpose The purpose of this paper is to test the effect of internal and external collaboration on the degree of newness (incremental/radical) in innovation projects. This adds to the understanding of the particular patterns of open innovation (OI) and what characterizes the innovation emerging through this approach. Design/methodology/approach Tests are performed on the effect of internal and external collaboration on the degree of newness (incremental/radical) in innovation projects. This adds to the understanding of the particular patterns of OI and what characterizes the innovation emerging through this approach. The empirical analysis is based on a data set including responses from 512 Danish engineers. Findings The results show that external collaboration has significantly different effects on the degree of newness depending on the type of external partners involved, and they also show that radical innovation output is positively related to involving the R&amp;D department (internal) and universities (external involvement) and negatively related to involving suppliers. Originality/value The results provide a more detailed understanding of how different OI patterns affect the development of incremental vs radical innovation in existing organizations. In particular, three findings add new insights into how OI affects innovation to reach the highest degree of newness: high importance of collaboration with external partners with distinct interests and skills; low reliance on existing customers and suppliers for the development of radical innovation; and narrow and focused internal involvement rather than broad internal involvement.

Topic: Innovation and Knowledge Management
Subfield: Strategy and Management
Field: Business, Management and Accounting
Domain: Social Sciences
Phase Transitions in Monolayers. Effect of a Second Component on the Transition Pressures

Abstract Phase transitions in monolayers are divided into two groups regarding if a flat part in the π‐A curve occurs or only a knikpoint. This distinction is related to the miscibility or immiscibility of the two modifications in the monolayer. Phase transition were compared with monolayer collapse. Upon compression the molecular area decreases till the molecules are highest packed, but instead of collapse by further compression, the molecules undergo a reorientation to a smaller limiting molecular area. The effect of a second component on the transition pressure was examined theoretically and the corresponding equations derived, starting from the chemical potential in the monolayer as elaborated by Defay et al. The transition pressure depends on the amount of the second component added to the system and is in disagreement with the Goodrich method. The effect of cholesterol on the phase transition in a stearic and myristic acid and ethylpalmitate monolayer was examined. When the two modifications are immiscible (myristic acid and ethylpalmitate) by addition of cholesterol the phase transition disappears and causes a condension of the expanded monolayer. In the case of stearic acid (miscible modifications) addition of cholesterol yields no appreciable difference in the surface pressure at the transition point. For this system the collapse pressure shows anomalities.

Topic: Spectroscopy and Quantum Chemical Studies
Subfield: Atomic and Molecular Physics, and Optics
Field: Physics and Astronomy
Domain: Physical Sciences
Model for Some Nonthermal Effects of Radio and Microwave Fields on Biological Membranes

A model is presented for mechanisms by which non-thermal effects could take place in biological materials as a result of microwave, radio-frequency fields. Both shifts in ion concentrations across a membrane and the orientation of long chain molecules are shown to be possible.

Topic: Magnetic and Electromagnetic Effects
Subfield: Physiology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
Rotator cuff syndrome in truck assembly line workers

Abstract Objectives To identify biomechanical risk factors for rotator cuff syndrome (RCS) and analyze factors associated with cases found among truck assembly workers. Methods A cross-sectional study was conducted in an automaker of trucks in the metropolitan area of Sao Paulo in 2013. Ergonomics evaluation of workstations was performed using OWAS. Among 79 workers who participated in the study, RCS cases were those who reported pain complaints in the shoulders during the past week and whose RCS´s specific physical evaluation was positive. Results Nine of the 12 workstations analyzed require biomechanics of the upper limbs with lifting above shoulder level. The ergonomic tool indicates the need for immediate corrective action in five workstations. The profile of the participants was as follows: male, mean age of 35 years, average working time in the company of 7.83 years. RCS was found in 17.7% of the participants. The outcome was associated with age and working time in the company. Conclusion Workers who perform this activity can develop RCS. Older employees and those who have worked longer in the company are the groups that should be evaluated more frequently so that early diagnosis can be achieved.

Topic: Occupational Health and Safety in Workplaces
Subfield: Occupational Therapy
Field: Health Professions
Domain: Health Sciences
Analysis of a Half-Scale Composite Floor System Test under Column Loss Scenarios

This paper describes modeling and analysis of a half-scale steel gravity frame system with composite concrete slab on steel deck that was constructed and tested at the University of Illinois under corner, edge, and interior column removal scenarios. For each scenario, distributed floor loading was incrementally increased until the floor system could not sustain additional load. The experimental results showed that the ultimate capacity of the floor system ranged from 44 % to 62 % of the applicable gravity load combination (1.2D + 0.5L), indicating a potential vulnerability to collapse. Analyses of the floor system used a component-based modeling approach for the shear connections, with load-displacement curves for each bolt row calibrated against experimental data from half-scale connections. Girders, beams, and columns were modeled with beam elements, and alternating strips of shell elements were used to represent the ribbed profile of the concrete slab on steel deck. The model accounted for partial continuity of the steel deck, as influenced by the actual placement of shear studs and spot welds. Blind pre-test predictions are compared with experimental data for the four column removal scenarios. The modeling approach was refined after each of the first two tests, and two factors were identified as having a significant influence on the response of the system: the post-ultimate softening modulus of concrete in tension and the out-of-plane (torsional and transverse shear) behavior of the shear connections.

Topic: Structural Response to Dynamic Loads
Subfield: Civil and Structural Engineering
Field: Engineering
Domain: Physical Sciences
Validating the Technology Proficiency Self-Assessment Questionnaire for 21st Century Learning (TPSA C-21)

Accurately measuring levels of technology proficiency in current and future classroom teachers are an important first step toward enhancing comfort level and confidence in integrating technology into the educational environment. The original Technology Proficiency Self-Assessment (TPSA) survey has maintained respectable psychometric properties for more than 15 years in assessing educator self-efficacy regarding skills for integrating technology into classroom teaching and learning. An updated version of the TPSA with new items related to emerging technologies, including mobile technologies, is shown to remain a reliable and valid instrument worthy of use with preservice and in-service educators for planning professional development related to technology integration.

Topic: Gender and Technology in Education
Subfield: Gender Studies
Field: Social Sciences
Domain: Social Sciences
Association Between Age‐Related Macular Degeneration and Risk of Heart Failure: A Population‐Based Nested Case‐Control Study

Background Heart failure (HF) is a major health problem worldwide because of its high morbidity and mortality. Recently, the role of the microvasculature in HF has gained more attention. Age‐related macular degeneration (AMD) is manifested through geographic atrophy or the development of neovascularization. However, there are limited data on investigations about the association between AMD and HF. The purpose of this study was to examine the association of AMD with the risk of HF in a large population‐based cohort of men and women. Methods and Results A nested case‐control study using Taiwan’s National Health Insurance Research Database was conducted between 2000 and 2012. Newly diagnosed heart failure cases (n=13 721) and matched controls (n=54 884) in the database were recruited. Patients who had ≥2 clinical visits with a diagnosis of AMD at least 1 year before the diagnosis of HF were identified as patients with AMD. Conditional logistic regressions were performed to calculate odds ratios and 95% CIs to assess the association between AMD and risk of HF. AMD was associated with a 1.58‐fold increased risk of HF (95% CI, 1.16–1.87) ( P &lt;0.001) after adjustment for potential confounders. This significant association was evident in both nonexudative and exudative AMD subgroups. Conclusions Our study provides evidence that AMD was associated with an increased risk of HF. Further molecular and pathophysiological studies are needed to clarify the underlying pathophysiological mechanisms behind the association of AMD with HF.

Topic: Retinal Diseases and Treatments
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Efficacy and Mechanisms of Gastric Volume-Restriction Bariatric Devices

Obesity is a chronic disease that affects over 795 million people worldwide. Bariatric surgery is an effective therapy to combat the epidemic of clinically severe obesity, but it is only performed in a very small proportion of patients because of the limited surgical indications, the irreversibility of the procedure, and the potential postoperative complications. As an alternative to bariatric surgery, numerous medical devices have been developed for the treatment of morbid obesity and obesity-related disorders. Most devices target restriction of the stomach, but the mechanism of action is likely more than just mechanical restriction. The objective of this review is to integrate the underlying mechanisms of gastric restrictive bariatric devices in obesity and comorbidities. We call attention to the need for future studies on potential mechanisms to shed light on how current gastric volume-restriction bariatric devices function and how future devices and treatments can be further improved to combat the epidemic of obesity.

Topic: Bariatric Surgery and Outcomes
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Comparison between Modified MPC and DTC Control Method for Permanent Magnet Synchronous Motor

Direct torque control (DTC) and model predictive control (MPC) are widely used in the control of permanent magnet synchronous motor (PMSM). However, DTC for PMSM can cause large torque ripples and flux ripples, high harmonic distortion of the stator current, and high acoustic noises. Compared to DTC, MPC considers all possible switching states which can reduce the ripples of torque and flux. MPC with one-step delay compensation for PMSM and DTC with one-step delay compensation and two hysteresis comparators for PMSM have been proposed to solve some drawbacks of these two controllers. This paper makes a detailed comparison between these two improved control methods through Simulink and hardware experiments results to analyse the four indicators-torque ripple, flux ripple, transient time and THD of inverter current.

Topic: Multilevel Inverters and Converters
Subfield: Electrical and Electronic Engineering
Field: Engineering
Domain: Physical Sciences