Miracle-dz/UniFAR-FTUs huggingface dataset:
Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population

Abstract Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from misalignment of a homologous sequence of an α-globin gene during meiosis can produce a numerical alteration. A single α-globin gene deletion is the most frequent mutation in α-thalassemia (α-thal) worldwide, while the additional α-globin chain is relatively common. The excess α-globin gene plays a critical role in pathophysiology of thalassemia, especially when in coinherited with β-thalassemia (β-thal). α-Globin triplication leads to an imbalanced ratio between α- and β-globin chains, thus, it can exacerbate the clinical and hematological features of β-thal. Different studies have been performed in various countries to determine the frequency of α-globin triplication and its genotype-phenotype correlation with β-thal. In this study, we focused on the frequency of α-globin gene triplication and its characterization, either solely or in coexistence with β-globin gene mutations in Iranian populations. We have investigated the α-globin gene rearrangements in 4010 individuals from different provinces of Iran with normal to abnormal hematological parameters. In total, the frequency of the αααanti 3.7 triplication was 1.7% and phenotype aggravation was observed in α-globin triplication patients who were carriers of β-thal. Therefore, identification of genotype-phenotype correlation of α-globin triplication with β-thal can be very useful for predicting the severity of clinical manifestations during genetic counseling.
Circulating megakaryocyte and platelet microvesicles correlate with response to ruxolitinib and distinct disease severity in patients with myelofibrosis

Aline Renneville Bruno Cassinat Akihiro Takeshita Norio Asou Yasushi Miyazaki Hitoshi Kiyoi Farhad Ravandi Peter Westervelt Lukas D. Wartman John S. Welch Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA, Department of Pathology, Washington University School of Medicine, The McDonnell Genome Institute, Washington University, St. Louis, MO, USA, Hôpital Saint-Louis, Paris, France, Broad Institute, Boston, MA, USA, Hamamatsu University School of Medicine, Hamamatsu, International Medical Centre, Saitama Medical University, Hidaka, Atomic Bomb Institute, Nagasaki University, Nagasaki, Nagoya University Graduate School of Medicine, Nagoya, Japan and MD Anderson Cancer Center, Houston, TX, USA. E-mail: jwelch@dom.wustl. edu
Dual-Polarization NFDM Transmission Using Distributed Raman Amplification and NFT-Domain Equalization

Transmission systems based on the nonlinear Fourier transform (NFT) can potentially address the limitations in transmission reach and throughput set forth by the onset of Kerr-induced nonlinear distortion. Whereas this technique is at a preliminary research stage, a rapid progress has been shown over the past few years leading to experimental demonstrations of dual-polarization systems carrying advanced modulation formats. The lossless transmission required by the NFT to ensure the theoretical validity of the scheme is a fairly strong requirement considering practical transmission links. Here, we address it by using optimized distributed Raman amplification to minimize the power variations to approximately 3 dB over 200 km, thus approaching the lossless transmission requirement. Additionally, we experimentally evaluate the improvement provided by equalization schemes applied to the signals in the NFD. By combining distributed Raman amplification and NFD equalization, we show transmission reaches for dual-polarization nonlinear frequency division multiplexing systems transmitting both two eigenvalues (8 bit/symbol) up to 2200 km and three eigenvalues (12 bit/symbol) up to more than 600 km at hard-decision and soft-decision forward error correction threshold, respectively.
Dynamical Modeling of the Core Gene Network Controlling Flowering Suggests Cumulative Activation From the FLOWERING LOCUS T Gene Homologs in Chickpea

Initiation of flowering moves plants from vegetative to reproductive development. The time when this transition happens (flowering time), an important indicator of productivity, depends on both endogenous and environmental factors. The core genetic regulatory network canalizing the flowering signals to the decision to flower has been studied extensively in the model plant Arabidopsis thaliana and has been shown to preserve its main regulatory blocks in other species. It integrates activation from the FLOWERING LOCUS T (FT) gene or its homologs to the flowering decision expressed as high expression of the meristem identity genes, including AP1. We elaborated a dynamical model of this flowering gene regulatory network and applied it to the previously published expression data from two cultivars of domesticated chickpea (Cicer arietinum), obtained for two photoperiod durations. Due to a large number of free parameters in the model, we used an ensemble approach analyzing the model solutions at many parameter sets that provide equally good fit to data. Testing several alternative hypotheses about regulatory roles of the five FT homologs present in chickpea revealed no preference in segregating individual FT copies as singled-out activators with their own regulatory parameters, thus favoring the hypothesis that the five genes possess similar regulatory properties and provide cumulative activation in the network. The analysis reveals that different levels of activation from AP1 can explain a small difference observed in the expression of the two homologs of the repressor gene TFL1. Finally, the model predicts highly reduced activation between LFY and AP1, thus suggesting that this regulatory block is not conserved in chickpea and needs other mechanisms. Overall, this study provides the first attempt to quantitatively test the flowering time gene network in chickpea based on data-driven modeling.
Exposure to airborne nano-titanium dioxide during airless spray painting and sanding

Abstract The objectives of the study were to measure and characterize exposure to airborne nanoscale titanium dioxide during airless spraying and sanding of a nano-enabled paint, and to evaluate the effectiveness of dust capture methods in reducing airborne nanoparticle concentrations. A tradesperson performed the work activities in an environmentally controlled chamber. Samples were collected in the tradesperson's breathing zone and in surrounding areas to assess bystander exposure. Filter-based samples were analyzed using gravimetric methods, scanning electron microscopy, and energy dispersive spectroscopy. Differential particle count data were obtained by means of a scanning mobility particle sizer. Local exhaust ventilation provided statistically significant reductions of airborne nanoparticle concentrations during sanding. Sanding the paint after drying with a handheld power sander generated relatively low levels of airborne titanium dioxide. In contrast, task-based exposure measurements collected during the initial airless spray application of the nano-enabled paint suggested a potential for occupational exposures to exceed the time-weighted average exposure limit for ultrafine titanium dioxide recommended by the National Institute for Occupational Safety and Health. Painters applying nano-enabled coatings may have little recourse but to rely, in some instances, on lower tiers of the hierarchy of controls, such as personal protective equipment. In light of these findings, employers and industrial hygienists should characterize exposures and implement the hierarchy of controls to ensure painters are sufficiently protected.
An Empirical Analysis of Cost Estimation Models on Undergraduate Projects Using COCOMO II

Now a day’s software engineering has inclination towards formality. Many formal and mathematical mergers have taken place in theoretical software engineering. Giving mathematical foundation to various aspects of software engineering enhance their practicability and predictability. Cost estimation models like Constructive Cost Model (COCOMO) is one major proven example. COCOMO effort and time calculation is based on mathematical foundations. Several cost drivers having mathematical values also contributed in these calculations. This paper presents a sensitivity analysis using on Constructive Cost Model II (COCOMO II) and their relationships with the projects taken on undergraduate level using web based estimation tool Estimator. The analysis studies the behavior of cost drivers having higher impact on these projects and needs detail understanding and some has low impact. This categorization further used in functional and nonfunctional requirements level. As which nonfunctional requirement need more and detailed understanding at undergraduate study level
Regulating for a reason: Emotion regulation goals are linked to spontaneous strategy use.

OBJECTIVE We investigated how individual differences in emotion regulation goals predict emotion regulation strategy use in daily life. METHOD Across three studies, we assessed two common types of emotion regulation goals (hedonic, social) and strategies spanning the entire process model of emotion regulation. We conducted two studies using global measures with undergraduates (N = 394; 18-25 years; 69% female; 56% European American) and community members (N = 302; 19-74 years; 50% female; 75% European American), and a nine-day daily diary study with another community sample (N = 272; 23-85 years; 50% female; 84% European American). RESULTS Globally and in daily life, pro-hedonic goals were positively associated with all antecedent-focused strategies (situation selection, situation modification, distraction, and reappraisal), pro-social goals were positively linked to reappraisal, and impression management goals positively predicted suppression. Contra-hedonic goals were negatively associated with reappraisal and positively associated with suppression in some studies. CONCLUSIONS The reasons why people regulate their emotions are predictive of the strategies they use in daily life. These links may be functional, such that people typically use strategies that are suitable for their goals. These findings demonstrate the value of an individual difference approach and highlight the motivational component of emotion regulation.
Imaging in rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis, and osteoarthritis: An international viewpoint on the current knowledge and future research priorities

Imaging is increasingly used in the routine management of rheumatic diseases as well as in the clinical trials of these disorders. This viewpoint, authored by a group of international imaging experts following two meetings dedicated to imaging in rheumatology, reports a consensus about the current knowledge and addresses where further research should be focused based on the views of the international imaging experts and discussion of the evidence with attending imaging practitioners. The goal was to maximize the potential of imaging to improve the clinical management of four rheumatic diseases. These rheumatic diseases include rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis, and osteoarthritis.
Combination of Antibodies and Antibiotics as a Promising Strategy Against Multidrug-Resistant Pathogens of the Respiratory Tract

The emergence of clinical isolates associated to multidrug resistance is a serious threat worldwide in terms of public health since complicates the success of the antibiotic treatment and the resolution of the infectious process. This is of great concern in pathogens affecting the lower respiratory tract as these infections are one of the major causes of mortality in children and adults. In most cases where the respiratory pathogen is associated to multidrug-resistance, antimicrobial concentrations both in serum and at the site of infection may be insufficient and the resolution of the infection depends on the interaction of the invading pathogen with the host immune response. The outcome of these infections largely depends on the susceptibility of the pathogen to the antibiotic treatment, although the humoral and cellular immune responses also play an important role in this process. Hence, prophylactic measures or even immunotherapy are alternatives against these multi-resistant pathogens. In this sense, specific antibodies and antibiotics may act concomitantly against the respiratory pathogen. Alteration of cell surface structures by antimicrobial drugs even at sub-inhibitory concentrations might result in greater exposure of microbial ligands that are normally hidden or hardly exposed. This alteration of the bacterial envelope may stimulate opsonization by natural and/or specific antibodies or even by host defense components, increasing the recognition of the microbial pathogen by circulating phagocytes. In this review we will explain the most relevant studies, where vaccination or the use of monoclonal antibodies in combination with antimicrobial treatment has demonstrated to be an alternative strategy to overcome the impact of multidrug resistance in respiratory pathogens.
Investigation of Carbon Interstitials in the Vicinity of the Si02/4H-SiC(0001) Interface

Native defects, including carbon vacancies and interstitials, are understood to be important defects that degrade device performance. In particular, during oxidation to form SiO2dielectric layers, carbon interstitials are thought to be injected into the SiC channels. Using density functional theory, the kinetics of diffusion of interstitial from the SiO2/4H-SiC(0001) interface has been investigated. The results show that the injection of a carbon interstitial from a site at the 4H-SiC-SiO2 interface is hindered by an additional 1 eV relative to the migration barrier of the native defect in bulk 4H-SiC.
Evidence of a Causal Relationship Between Smoking Tobacco and Schizophrenia Spectrum Disorders

There has been emerging evidence of an association between tobacco smoking and schizophrenia spectrum disorders (SSD). Two meta-analyses have reported that people who smoke tobacco have an ~2-fold increased risk of incident schizophrenia or psychosis, even after adjusting for confounding factors. This study aimed to critically appraise the research which has examined the association between tobacco smoking and SSD against the Bradford Hill criteria for causality, to determine the strength of the evidence for a causal relationship. Eight longitudinal studies (seven cohort studies and one case control study) were identified which examined tobacco smoking as an exposure and psychosis as an outcome. All seven cohort studies were assessed as being of high quality using the Newcastle-Ottawa Scale. Six of the eight studies found a statistically significant positive association between tobacco smoking and onset of SSD. These studies reported a consistent association with a moderate to large effect size and a dose response relationship. The studies adjusted for multiple potential confounders including age, sex, socioeconomic status, shared genetic risk, prodromal symptoms, and comorbid cannabis and other substance use. The studies did not adjust for exposure to childhood trauma or prenatal tobacco. There was substantial though inconclusive evidence supporting a causal relationship between tobacco smoking and increased risk of SSD. If a causal relationship does exist, nicotine is most likely responsible for this association. This raises serious public health concerns about the increasing use of e-cigarettes and other products, particularly by adolescents whose nicotine use may increase their risk of SSD. Research is urgently needed to examine the association between e-cigarette use and incident psychosis, particularly in adolescents and young adults.
Using telepresence for social connection: views of older people with dementia, families, and health professionals from a mixed methods pilot study

Abstract Objectives: To explore the acceptability of telepresence robots in dementia care from the perspectives of people with dementia, family carers, and health professionals/trainees, and investigate the utility of a social presence assessment tool, the Modified-Temple Presence Inventory (Modified-TPI), for people with dementia. Method: A mixed-methods pilot study conducted in a social robotics laboratory. Three participant groups (n = 22) – dyads of people with dementia and their carers (n = 5 respectively), and health professionals/trainees (n = 12) – participated in individual one-off intervention sessions with the telepresence robot, Giraff, with follow-up interviews. Sessions covered how to use Giraff, followed by interactive practice in making a video-call involving conversation and manoeuvring of Giraff. Participants with dementia experienced receiving a call made by their carer; healthcare professionals/trainees experienced making and receiving a call. Outcomes of interest were sense of presence [Modified-TPI], affective response (International Positive and Negative Affect Schedule [I-PANAS-S]; Observable Displays of Affect Scale [ODAS]), and attitudes and reactions to Giraff (semi-structured interviews). Results: Participants reported a sense of authenticity and social connection through the experience. They indicated positive social presence through Giraff, and significantly higher positive (mean score 18.77; ±4.00) than negative affect (mean score 8.05; ±1.76) on the I-PANAS-SF, and on the facial display subscale of the ODAS (positive – mean score 15.50; ±3.51 versus negative – mean score 4.00; ±0.00). Conclusion: Telepresence has potential use in situations where people with dementia require social connection. Studies with larger sample sizes, varied characteristics, and cost-effectiveness analysis are needed to inform the application of telepresence in healthcare practice.
Ocular manifestations of Rickettsia conorii in South India

Purpose: Among the major groups of rickettsiosis, the commonly reported diseases in India are: (a) Typhus group induced—scrub typhus, murine flea-borne typhus; (b) Spotted fever group induced—Indian tick typhus; and (c) Q fever. Though many scrub typhus outbreaks have been reported from India, only one outbreak of spotted fever—serologically proven Indian tick typhus (Rickettsia conorii)—has been reported. We report for the first time ocular manifestations of serologically proven R. conorii infection in a cluster of patients. Methods: In this retrospective study, case records patients with serologically proven Indian tick typhus (Rickettsia conorii) were reviewed for clinical manifestations and treatment outcomes. Results: In the months of February to April 2016, a cluster of 12 patients (23 eyes) visited us with defective vision. Examination showed multifocal retinitis; mostly bilateral; patients had a history of fever approximately 4 weeks prior to onset of symptoms. After excluding other causes of multifocal retinitis, a diagnosis of rickettsial retinitis was made after Weil–Felix test (WFT) was significantly positive, and enzyme-linked immunosorbent assay was positive for R. conorii. Course of the disease, visual outcome, and investigations are discussed. Doxycycline along with oral corticosteroids was effective in treating the condition. Conclusion: Systematic fundus examination should be part of the routine evaluation of any patient who presents with fever and/or skin rash living in or returning from a specific endemic area. Clinical clues to diagnosing ocular rickettsiosis could be multifocal retinitis predominantly involving the posterior pole and macular involvement in the form of serous macular detachment or macular hard exudates. A positive WFT still serves as a useful and cheap diagnostic tool for laboratory diagnosis of rickettsial disease. Doxycycline along with oral corticosteroids was effective in treating the condition.
Constituents from Moghat, the Roots of Glossostemon bruguieri (Desf.)

The new biflavone moghatin (3″′-hydroxycupressuflavone) was isolated from Moghat, the dried peeled roots of Glossostemon bruguieri (Desf.), together with five known compounds: 4′-methoxyisoscutellargin, sesamin, chrysophanol, emodin and methoxyemodin (physcion). The structures of these compounds were assigned on the basis of spectroscopic data. Occurrence of these compounds in Moghat is reported here for the first time.
Morphological Properties of the Two Types of Caudate Interneurons: Kohonen Self-Organizing Maps and Correlation-Comparison Analysis

Abstract Our previous study found that caudate and putaminal interneurons are morphologically very different, and that accordingly they could be divided in two separate clusters. In addition, it also demonstrated, as a collateral result, that the caudate cluster itself consists of two clusters of morphologically different interneurons. Hence, the objective of this study is a morphological description and subtle differing of morphologies of these two types of caudate interneurons, i.e., an investigation of those morphological traits which characterize them uniquely, and which would distinguish them. Binary two-dimensional images of caudate interneurons, taken from deceased adult human subjects, were analyzed by using 46 parameters, describing the morphology of interneurons. The parameters can be divided in the following classes: size (surface) of a neuron, neuronal shape, length of neuronal morphological compartments, dendritic branching, morphological organization, and complexity. The morphological determination of caudate interneurons was performed in a step-wise manner. The first step was the assignment of each individual neuron to an adequate cluster where it belonged according to morphological criteria. This was done by using the trained artificial neural network, Kohonen self-organizing map. After the clusters were formed, the analysis is further continued by the precise, feature-wise determination of morphological differences found between clusters of caudate interneurons and then finished by defining correlation-based, mutual, inter-parametric relations for each of the clusters. The first was performed by using single-factor analysis, and the second by correlation-comparison analysis. Single-factor analysis showed significance for 34 parameters (morphological features) that distinguish between the clusters. Correlation-comparison analysis extended the results of single-factor analysis by demonstrating significance for 198 inter-parametric correlation pairs that represent 19.13% of mismatched correlations of the first kind among the total number of correlations. This represents a significant inter-cluster separation zone. In addition, the analysis extracted one correlation of the second kind, namely, the DO-MDCBO, very highly significant (p<0.001), positive (r=0.45) in the cluster I, while negative (r=–0.13), also significant (p<0.05) in the cluster II. The two clusters of caudate interneurons were found to be significantly morphologically different. These differences, albeit not strong as the caudate–putaminal differences, are more numerous with respect to significant morphological properties defining them. They probably underlie, influence, and modulate different neurofunctional behavior of the two types of interneurons, which need to be further investigated by future studies.