Miracle-dz/UniFAR-FTUs huggingface dataset:
“Nature versus nurture” and incompletely penetrant mutations

Lessons from twin studies of parkinson's disease The debate over the relative roles of “nature versus nurture” remains unresolved in many fields of study, from childhood education to animal behaviour or neurodegenerative disorders. Points of view frequently are polarised, either nature or nurture, rather then exploring the ways in which both sides play critical and complementary roles. Proponents of “nature” argue that human attributes are uniquely and primarily conditioned by genetics, opposing the view of those who think that environmental influences and experience determine individual differences. Arguments similar to those brought to bear regarding acquisition of skills, language, or cognitive styles also apply to human pathology. Often, in the discussion of disease the terms used are “genetic” versus “environmental”, but the implication is the same as in the “nature” versus “nurture” debate. Disorders considered to be primarily genetic are ones in which the presence or absence of genetic mutations is the primary determinant of disease, independent of environmental circumstances. A disease considered to be primarily environmental is one in which people of virtually any genetic background can develop the disease provided that they are exposed to the necessary environmental factor or factors. However, for many disorders, the risk is strongly influenced by both genetic and environmental factors.1, 2 For example, a susceptibility gene may strongly influence the risk of developing a disease only in response to a specific environmental exposure. If the environmental exposure occurs infrequently, the gene will be of low penetrance, and it may seem that the environmental exposure is the primary determinant of the disease, even though the gene is required for developing the disease. Therefore, even when environmental agents are suspected to be a major cause of a particular disease, this does not exclude the possibility that genetic factors also play a major part, particularly …
To implement the CDMA multiuser detector by using transiently chaotic neural network

The design of a suboptimal CDMA multiuser detector is a hot topic. We propose to implement the CDMA multiuser detector by using transiently chaotic neural network (TCNN). After going through a transiently chaotic process, the network reaches the global optimum or the neighbor of global optimum. Computer simulation results show that the proposed detector is clearly superior to Hopfield neural network (HNN) based detector and comparable with the optimal detector.
pH sensing and noise characteristics of Si nanowire ion-sensitive field effect transistors

We have fabricated Si-nanowire (Si-NW) based ion-sensitive field effect transistors (ISFETSs) for biosensing applications. The ability to prepare a large number of sensors on a wafer, standard silicon microfabrication techniques resulting in cost savings and potential sensitivity are significant advantages in favor of nanoscale ISFETs for future biosensor requirements. The Si-NW ISFETs were produced using a combination of oxide-grown Si-NWs and integrated Ag/AgCl reference electrodes. The Si-NWs were fabricated on a standard silicon-on-insulator wafer using electron-beam lithography and conventional semiconductor processing techniques. To form an Ag/AgCl reference electrode, a 250-nm thick Ag layer was deposited and later chlorinated in 100 mM KCl solution. SEM analysis reveals Si-NWs with a width of ∼50 nm and a length of 10 µm. The DC characteristics were measured by placing an ISFET with 100 Si-NWs in parallel in a 0.1× PBS buffer solution. The measured ID-VG characteristics show an n-type FET behavior with a relatively high on/off current ratio, reasonable sub-threshold swing value, and low gate-leakage current. The pH responses of the ISFETs with different pH solutions were characterized at room temperature. A lateral shift of the ID-VG curve is clearly observed by changing the pH value of the solution. The low frequency noise characteristics have been performed in order to evaluate interface quality of the devices.
Optimal design of flux-barrier to improve torque performance of IPMSM for electric spindle

This paper presents an optimal design of interior permanent magnet synchronous machine (IPMSM) for electric spindle considering the flux-barrier shape. Four types of flux-barrier are discussed and compared to improve torque performance, which includes the average torque, torque ripple and cogging torque. The design process is accomplished by using finite element method (FEM). Moreover, the Taguchi method is taken into practice in this paper as a proposed optimal method. The simulation results will be theoretically discussed and analyzed. Finally, prototype machines are being fabricated, and the validity of the proposed design will be confirmed by experiments.
Quality of life up to 30 years following liver transplantation

Liver transplantation provides a return to a satisfactory quality of life (QOL) for the majority of patients in the short to medium term (first 5 years), but there is very little information on the QOL in the longer term and the factors influencing it. We therefore undertook a single‐center cross‐sectional analysis to determine QOL in patients 10 or more years after liver transplantation. All liver transplant recipients who were followed up at the Cambridge Transplant Unit for 10 or more years (transplanted between 1968 and 1994) and resident in the United Kingdom were asked to complete by post the Short Form 36 version 2 and the Ferrans and Powers questionnaires to evaluate their QOL. Univariate and multivariate analysis were performed to assess the relationship between a range of clinical parameters and QOL. One hundred two patients were invited to participate, and 61 (59.8%) responded. Overall, the patients reported a satisfactory QOL. On the Ferrans and Powers questionnaire, the patients had a mean Quality of Life Index score of 24.5. Factors associated with reduced physical functioning were age > 50 years at transplantation, female gender, and recurrence of the primary liver disease. On the Short Form 36 version 2 questionnaire, recipients had reduced physical functioning but normal mental health parameters in comparison with the normal population. Age > 60 years at the time of survey, female gender, and posttransplant complications were associated with reduced physical functioning. In conclusion, patients 10 or more years after liver transplantation generally have a good QOL, although physical functioning is reduced. Addressing issues such as recurrent disease and posttransplant problems such as osteoporosis may help to improve long‐term QOL. Liver Transpl 14:1473–1479, 2008. © 2008 AASLD.
Screening for Early Diabetic Nephropathy: Which Sample to Detect Microalbuminuria?

In a study to monitor the acceptability of using a timed overnight urine collection to measure microalbuminuria in a large diabetic population, it was found that only 184 (69.4%) of 265 diabetics returned the urine collection to the hospital laboratory. Three proposals for an initial screening test to predict high risk microalbuminuria were analysed
Narrativa, história e ficção: os history games como obras fronteiriças

O presente trabalho foi originado a partir das reflexoes suscitadas por uma pesquisa de pos-doutorado que investiga como os history games podem contribuir para a producao e o compartilhamento de representacoes, de imagens e de um imaginario sobre o passado. Entendemos por history games os jogos eletronicos digitais que possuem, em sua estrutura, narrativas ou simulacoes de elementos historicos (Neves, 2010). A nocao de termo “obras fronteiricas”, e utilizada por Glezer e Albieri (2009) para discutir o papel de trabalhos literarios e artisticos que, situando-se fora do campo historiografico e possuindo um carater ficcional constituem-se em formas de difusao do conhecimento historico e de aproximacao com o passado. Pretendemos demonstrar como, sob o impacto do giro linguistico, as fronteiras entre historia e ficcao foram esmaecidas. Em autores como White (1995) e Veyne (2008) encontramos, tanto uma convergencia ou identidade entre a narrativa historica e a literaria, como um questionamento ao estatuto epistemologico da Historia como ciencia. Os desdobramentos dessas criticas implicaram em uma valorizacao das obras ficcionais tanto para o conhecimento, como para a divulgacao do conhecimento historico sobre o passado. Em seguida, examinaremos os elementos das narrativas audiovisuais dos jogos eletronicos (Calleja, 2013; Frasca, 1999; Jull, 2001; Murray, 2003; Zagalo, 2009), buscando compreender a sua especificidade. A seguir, investigaremos o lugar das narrativas e simulacoes historicas dos jogos eletronicos na cultura contemporânea (Fogu, 2009). Por fim, discutiremos como os conhecimentos historicos sao apropriados e representados atraves dos history games (Arruda, 2009; Kusiak, 2002) e analisaremos o seu impacto na producao de uma consciencia historica ou de um imaginario sobre o passado.
Profiling Isokinetic Strength by Leg Preference and Position in Rugby Union Athletes.

CONTEXT Muscle imbalances aid in the identification of athletes at risk for lower-extremity injury. Little is known regarding the influence that leg preference or playing position may have on lower-extremity muscle strength and asymmetry. PURPOSE To investigate lower-extremity strength profiles in rugby union athletes and compare isokinetic knee- and hip-strength variables between legs and positions. METHODS Thirty male academy rugby union athletes, separated into forwards (n = 15) and backs (n = 15), participated in this cross-sectional analysis. Isokinetic dynamometry was used to evaluate peak torque, angle of peak torque, and strength ratios of the preferred and nonpreferred legs during seated knee extension/flexion and supine hip extension/flexion at 60°/s. RESULTS Backs were older (ES = 1.6) but smaller in stature (ES = -0.47) and body mass (ES = -1.3) than the forwards. The nonpreferred leg was weaker than the preferred leg for forwards during extension (ES = -0.37) and flexion (ES = -0.21) actions and for backs during extension (ES = -0.28) actions. Backs were weaker at the knee than forwards in the preferred leg during extension (ES = -0.50) and flexion (ES = -0.66) actions. No differences were observed in strength ratios between legs or positions. Backs produced peak torque at longer muscle lengths in both legs at the knee (ES = -0.93 to -0.94) and hip (ES = -0.84 to -1.17) than the forwards. CONCLUSIONS In this sample of male academy rugby union athletes, the preferred leg and forwards displayed superior strength compared with the nonpreferred leg and backs. These findings highlight the importance of individualized athletic assessments to detect crucial strength differences in male rugby union athletes.
Mutation of YMYL in the Nipah Virus Matrix Protein Abrogates Budding and Alters Subcellular Localization

ABSTRACT Matrix (M) proteins reportedly direct the budding of paramyxoviruses from infected cells. In order to begin to characterize the assembly process for the highly lethal, emerging paramyxovirus Nipah virus (NiV), we have examined the budding of NiV M. We demonstrated that expression of the NiV M protein is sufficient to produce budding virus-like particles (VLPs) that are physically and morphologically similar to NiV. We identified in NiV M a sequence, YMYL, with similarity to the YPDL late domain found in the equine infectious anemia virus Gag protein. When the YMYL within NiV M was mutated, VLP release was abolished and M was relocalized to the nucleus, but the mutant M proteins retained oligomerization activity. When YMYL was fused to a late-domain mutant of the Ebola virus VP40 matrix protein, VP40 budding was restored. These results suggest that the YMYL sequence may act as a trafficking signal and a late domain for NiV M.
Bone substitutes based on biopolymers and calcium phosphates obtained by biomimetic method

In the present work we describe a novel route for preparation of biomimetic bone scaffolds based on biopolymers as chitosan (Cs), hyaluronic acid (Hya), chondroitin sulfate (ChS) and calcium phosphate (CP). The biopolymers-CP composite scaffolds were analyzed by Fourier transformed infrared spectroscopy, scanning electron microscopy, X-ray diffraction, mechanical test, cell culture and MTS (3-(4, 5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfo-phenyl)-2H-tetrazolium) assay. The results show the interactions among biopolymers and CP through chemical bond interactions between Ca ions and -OH groups of CP, -NH3+ groups of Cs and -OSO3• groups of ChS or -COO• groups of Hya and -NH2 or -OH groups of Cs. The different forms of CP obtained, combined with the mixture of biopolymers highlight the prospective use of these composite scaffolds in bone tissue engineering. The scaffolds compositions have no negative effect on cell, emphasizing a good biocompatibility.
Reactivity of Antibodies from Syphilis Patients to a Protein Array Representing the Treponema pallidum Proteome

ABSTRACT To identify antigens important in the human immune response to syphilis, the serum antibody reactivity of syphilitic patients was examined with 908 of the 1,039 proteins in the proteome of Treponema pallidum subsp. pallidum using a protein array enzyme-linked immunosorbent assay. Thirty-four proteins exhibited significant reactivity when assayed with human sera from patients in the early latent stage of syphilis. A subset of antigens identified were further scrutinized for antibody reactivity at primary, secondary, and latent disease stages, and the results demonstrate that the humoral immune response to individual T. pallidum proteins develops at different rates during the time course of infection.
A Study about Regioisomeric Hydroquinones with Multiple Intramolecular Hydrogen Bonding

A theoretical exploration about hydrogen bonding in a series of synthetic regioisomeric antitumor tricyclic hydroquinones is presented. The stabilization energy for the intramolecular hydrogen bond (IHB) formation in four structurally different situations were evaluated: (a) IHB between the proton of a phenolic hydroxyl group and an ortho-carbonyl group (forming a six-membered ring); (b) between the oxygen atom of a phenolic hydroxyl group and the proton of an hydroxyalkyl group (seven membered ring); (c) between the proton of a phenolic hydroxyl group with the oxygen atom of the hydroxyl group of a hydroxyalkyl moiety (seven-membered ring); and (d) between the proton of a phenolic hydroxyl group and an oxygen atom directly bonded to the aromatic ring in ortho position (five-membered ring). A conformational analysis for the rotation around the hydroxyalkyl substituent is also performed. It is observed that there is a correspondence between the conformational energies and the IHB. The strongest intramolecular hydrogen bonds are those involving a phenolic proton and a carbonyl oxygen atom, forming a six-membered ring, and the weakest are those involving a phenolic proton with the oxygen atom of the chromenone, forming five-membered rings. Additionally, the synthesis and structural assignment of two pairs of regioisomeric hydroquinones, by 2D-NMR experiments, are reported. These results can be useful in the design of biologically-active molecules.
Efficient Light Absorption in Organic Solar Cells Based on Two-Dimensional Arrayed Dielectric Nanospheres

We have designed a patterned OSC based on 2-D arrayed dielectric nanospheres loaded on the indium tin oxide anode with other functional layers conformally embossed in the same profile as the nanosphere array. This design shows an integrated light absorption efficiency of 76.6% in the PSBTBT:PC71BM active layer over the wavelength range from 400 to 900 nm at normal incidence, outperforming the structurally identical planar control cell by 21.6%. Detailed investigations reveal that the excitation of photonic modes including the hybridization of cavity modes and Bloch modes, plasmonic modes, and their mutual coupling are responsible for the observed broadband enhancement in light absorption. Among them, the photonic modes are confirmed to be main contributor at most of the absorption band of PSBTBT:PC71BM, whereas at the absorption band edge of PSBTBT:PC71BM, the plasmonic resonance joins with the photonic resonances, collaboratively producing an enhancement factor as high as 110%. Moreover, the broadband absorption enhancement of our proposal is insensitive to the incident angle, favoring the practical application. This work provides a low cost and efficient route for achieving high-performance OSCs in experiment.
Causal Mediation in Educational Research: An Illustration Using International Assessment Data

Abstract This paper applies the causal mediation framework proposed by Kosuke Imai and colleagues (Imai, Keele, & Tingley, 2010) to educational research by examining the causal mediating role of early literacy activities in parental education influences on reading performance. The paper argues that the study of causal mediation is particularly relevant in educational settings because learning outcomes result from complex interactions involving multiple actors. The analyses use retrospective longitudinal data from the Progress in International Reading Literacy Study (PIRLS) 2011. The value of international assessment data for producing evidence of causation is discussed. The paper aims to contribute to the study of causation with observational data from educational studies.
Optimisation of brace treatment with numerical modelling

This work introduces a novel method of automating the process of patient-specific finite element (FE) model development using a mapped mesh technique. The objective is to map a predefined mesh (template) of high quality directly onto a new bony surface (target) definition, thereby yielding a similar mesh with minimal user interaction. To bring the template mesh into correspondence with the target surface, a deformable registration technique based on the FE method has been adopted. The procedure has been made hierarchical allowing several levels of mesh refinement to be used, thus reducing the time required to achieve a solution. Our initial efforts have focused on the phalanx bones of the human hand. Mesh quality metrics, such as element volume and distortion were evaluated. Furthermore, the distance between the target surface and the final mapped mesh were measured. The results have satisfactorily proven the applicability of the proposed method.
Quetiapine and Norquetiapine Serum Concentrations and Clinical Effects in Depressed Patients Under Augmentation Therapy With Quetiapine

Background: Quetiapine has been recently approved as an add-on therapy in the treatment of major depressive disorders in the case of inadequate response to antidepressant monotherapy. Thereby the antidepressant potential is attributed to the N-demethylated metabolite norquetiapine (NQ). The aim of this cross-sectional analysis was to relate quetiapine (Q) doses to serum concentrations of Q and its active metabolite and clinical effects. Methods: Data were obtained from patients who had been treated with different antidepressants and augmented under naturalistic conditions with Q for whom blood level measurements were requested. Results: For this analysis, 105 depressed patients were included who had been augmented with Q. The mean daily doses of Q were 222 ± 125 mg. Doses correlated significantly (P < 0.001) with the highly variable serum concentrations of both Q and NQ. Median serum concentrations of Q and NQ were 46 ng/mL (25th to 75th percentile 20–91 ng/mL) and 59 ng/mL (25th to 75th percentile 26–133 ng/mL), respectively. Concentrations per dose ranged from 0.10 to 0.58 ng·ml−1·mg−1 for Q and from 0.17 to 0.59 ng·ml−1·mg−1 for NQ. Most patients (55%) received comedications in addition to the antidepressant drug and Q. According to the clinical global impressions scale, 60% of the patients were either much (36%) or very much improved (24%). Receiver-operating characteristic analysis revealed no significant differences of serum concentrations between responders and nonresponders for NQ (P = 0.835) but a trend for Q (P = 0.056). Conclusions: Due to marked variability of Q and NQ concentrations in the blood, therapeutic drug monitoring may be helpful to identify pharmacokinetic peculiarities. The lack of correlation between serum concentrations of NQ and clinical improvement casts doubts on the concept that NQ is the pharmacologically active principle for the augmentation therapy.
High in vitro production of ant-canceric indole alkaloids from periwinkle ( Catharanthus roseus) tissue culture

Periwinkle (Catharanthus roseus) is one of the most important medical and ornamental plants in the world. In this investigation, periwinkle seeds, after sterilization were cultured on MS medium. Petiole segments of seedlings (4 day old) were subcultured to medium containing various concentrations of NAA accompanied with Kin and subcultured to regenerate the callus and root. Callus and roots were obtained from petioles in some of treatments. The extracts of callus and roots from different treatments were analyzed by spectrophotometer, TLC and HPLC with respect to the indole alkaloids producing capacity. Alkaloids were produced callus and roots from petiole of C. roseus in the presence of 0.1, 5, 10 and 20 mg/l Kin and NAA. MS with 0.1 mg/l NAA + 0.1 mg/l Kin had the highest vindoline, catharanthine, vincristine and root organogenesis capacity. But the level of these alkaloids and ajmalicine were very low compared to that in petiole of intact plant, and the level of serpentine was similar. New roots, callus roots, and callus from MS medium containing 0.1 mg/l NAA + 0.1 mg/l Kin were subcultured in hormone-free and 0.1 mg/l NAA + 0.1 mg/l Kin media and for organogenesis and growth. The most alkaloids amount was produced in new roots and callus roots. The indole alkaloid levels of new roots in new media were higher than in petioles of intact plants. In this study, 10-fold catharanthine, 125-fold serpentine, 0.5-fold vindoline and 0.34-fold ajmalicine were produced by new roots. The most interesting result was presentation of two important ant-cancer dimeric alkaloids, vinblastine and vincristine with amounts of 20-fold vinblastine and 6-fold vincristine to compare that in the petioles of intact plants.