Miracle-dz/UniFAR-FTUs huggingface dataset:
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Background: MYBPC3 splicing errors are a common cause of hypertrophic cardiomyopathy (HCM). Variants affecting essential splice-site dinucleotides inhibit splicing, whereas the impact of variants at conserved flanking nucleotides is less clear. We evaluated the contribution of MYBPC3 splice-site variants in a large cohort of patients with HCM and assessed the impact on splicing with RNA analysis. Methods: Patients attending a specialized multidisciplinary clinic, with a clinical diagnosis of HCM and genetic testing of at least 46 cardiomyopathy-associated genes, were included. Patients with variants in MYBPC3 splice sites with in silico-predicted effects on splicing were selected. RNA was extracted from fresh venous blood or paraffin-embedded myocardial tissue of the patients, amplified, and sequenced. Variants were classified for pathogenicity using the American College of Medical Genetics and Genomics guidelines. Results: We found 29 rare MYBPC3 splice-site variants in 56 of 557 (10%) unrelated HCM probands. Three variants were not predicted to alter RNA splicing, and 13 essential splice dinucleotide, nonsense, and short insertion or deletion variants were not further assessed. RNA analysis was performed on 9 variants (c.654+5G>C, c.772G>A, c.821+3G>T, c.927-9G>A, c.1090G>A, c.1624G>A, c.1624+4A>T, c.3190+5G>A, and c.3491-3C>G), and RNA splicing errors were confirmed for 7. Four variants in 4 families resulted in clinically meaningful reclassifications. Conclusions: After RNA analysis, 4 of 56 (7%) families with MYBPC3 splice-site variants were reclassified from uncertain clinical significance to likely pathogenic. RNA analysis of splice-site variants can assist in understanding pathogenicity and increase the diagnostic yield of genetic testing in HCM.
A Customized Intervention Program Aiming to Improve Healthy Eating and Physical Activity Among Preschool Children: Protocol for a Randomized Controlled Trial (Iran Healthy Start Study)

Background Prevention of childhood obesity is a key approach to the primary prevention of noncommunicable diseases. Several models, based on the population health approach and aligned with ecological models, are used to design childhood obesity prevention programs around the world. Objective This study aims to introduce the design and evaluation plan of “Iran Healthy Start (IHS)/Aghazi Salem, Koodake Irani”—the customized Iranian version of Canadian Healthy Start/Départ Santé health promotion program—which is now being developed in Mashhad University of Medical Sciences (Mashhad, Iran) and focuses on improving physical activity and healthy eating among preschool children. Methods We will evaluate the intervention using a pilot randomized controlled design. The components of intervention include customized Decoda Web-based resources for children, an implementation guide for educators and managers, training and monitoring, communication and knowledge exchange, building partnership, and parent engagement. Outcomes include changes in anthropometry, physical activity level, nutritional risk status and dietary intake, and quality of life. Results The project is funded by Mashhad University of Medical Sciences. The intervention was completed by the end of March 2018, and the analysis is currently under way. The first results of the IHS intervention program are expected to be submitted for publication in December 2018. Conclusions The double burden of malnutrition in early years children is a major health concern in developing countries. This justifies the need for health promotion programs that are specifically designed to target both overnutrition and undernutrition prevention. If the efficacy approved, the IHS could potentially be a comprehensive health promotion program for young children whose lifestyle behaviors can be improved toward a healthy future life in a nutrition transition setting. Trial Registration International Clinical Trials Registry Platform IRCT2016041927475N1; https://en.irct. ir/trial/22497 International Registered Report Identifier (IRRID) RR1-10.2196/11329
The obesity paradox in patients undergoing transcatheter aortic valve implantation: is there any effect of body mass index on survival?

BACKGROUND Conflicting results have been presented regarding the influence of body mass index (BMI) on outcomes among patients undergoing transcatheter aortic valve implantation (TAVI). AIMS To investigate the impact of BMI on clinical outcomes after TAVI. METHODS A total of 148 consecutive patients were categorised using baseline BMI according to the World Health Organization criteria. Baseline patient characteristics, frailty, and procedural and clinical outcomes including 30-day and 12-month all-cause mortality were compared between the BMI categories. Patients were followed up for a median of 460.0 (182.0-1042.0) days. RESULTS Obesity was diagnosed in 37 (25.2%) patients, 73 (49.7%) patients were overweight, and 37 (25.2%) had normal weight. Prevalence of lower frailty as assessed by five-metre walk test was confirmed in obese patients as compared to other groups. A trend towards a lower rate of in-hospital bleeding complications (18 [48.6%] vs. 21 [28.8%] vs. 9 [24.3%] in normal-weight, overweight, and obese patients, respectively; p = 0.06) and less frequent blood transfusions (18 [48.6%] vs. 17 [23.3%) vs. 8 [21.6%]; p = 0.016) was observed in overweight and obese groups. The rate of grade 3 acute kidney injury was lowest in the overweight group (4 [10.8%] vs. 1 [1.4%] vs. 3 [8.1%]; p = 0.05). There was no difference between the groups in terms of 30-day all-cause mortality (p = 0.15). However, 12-month all-cause mortality was lowest in obese pa-tients (12 [32.4%] vs. 10 [13.7%] vs. 2 [5.4%]; p = 0.004). Increase in BMI was independently associated with lower all-cause mortality (hazard ratio [95% confidence interval] per 1 kg/m2 increase: 0.91 [0.845-0.98]; p = 0.018). CONCLUSIONS Increased BMI was independently associated with survival benefit after TAVI.
The Impact of a City-Level Minimum Wage Policy on Supermarket Food Prices by Food Quality Metrics: A Two-Year Follow Up Study

Objective: To examine the effects of increasing minimum wage on supermarket food prices in Seattle over 2 years of policy implementation, overall and differentially across food quality metrics. Methods: Prices for the UW Center for Public Health Nutrition (CPHN) market basket of 106 foods were obtained for 6 large supermarket chain stores in Seattle (“intervention”) and for the same chain stores in King County (“control”) at four time points: 1-month pre- (March 2015), 1-month post- (May 2015), 1-year post- (May 2016), and 2-years post-policy implementation (May 2017). Prices for all food items were standardized and converted to price per 100 kcal. Food quality metrics were used to explore potential differential price increases by (a) food groups, as defined by US Department of Agriculture; (b) NOVA food processing categories, and (c) nutrient density quartiles, based on the Nutrient Rich Foods Index 9.3. Separate difference-in-differences linear regression models with robust standard errors, examined price differences per 100 kcal overall, clustered by store chain, and stratified by each food quality metric. Results: There were no overall market basket price changes attributable to Seattle’s minimum wage policy. Moreover, no minimum wage effect was detected by USDA food group, food processing, or nutrient density categories. Conclusions: Local area supermarket food prices were not impacted by Seattle’s minimum wage policy 2 years into policy implementation and after the first increase to $15/h overall or by sub-classification. Low-income workers may be able to afford higher quality diets if wages increase yet supermarket prices stay the same.
Models to determine the kinetic mechanisms of ion-coupled transporters

With high-resolution structures available for many ion-coupled (secondary active) transporters, a major challenge for the field is to determine how coupling is accomplished. Knowledge of the kinetic mechanism of the transport reaction, which defines the binding order of substrate and co-ions, together with the sequence with which all relevant states are visited by the transporter, will help to reveal this coupling mechanism. Here, we derived general mathematical models that can be used to analyze data from steady-state transport measurements and show how kinetic mechanisms can be derived. The models describe how the apparent maximal rate of substrate transport depends on the co-ion concentration, and vice versa, in different mechanisms. Similarly, they describe how the apparent affinity for the transported substrate is affected by the co-ion concentration and vice versa. Analyses of maximal rates and affinities permit deduction of the number of co-ions that bind before, together with, and after the substrate. Hill analysis is less informative, but in some mechanisms, it can reveal the total number of co-ions transported with the substrate. However, prior knowledge of the number of co-ions from other experimental approaches is preferred when deriving kinetic mechanisms, because the models are generally overparameterized. The models we present have wide applicability for the study of ion-coupled transporters.
Motivational effects of enhancing expectancies and autonomy for motor learning: An examination of the OPTIMAL theory

Abstract The OPTIMAL theory proposes that enhancing expectancies and autonomy facilitate motor performance and learning (Wulf & Lewthwaite). Present study with two experiments aimed to examine this proposition by using a modified dart throwing as motor task. In both experiments, motor learning (i.e., retention test) was enhanced by practice conditions, which enhance expectancies for future performance and support learners’ autonomy. Moreover, they led to significantly superior self-efficacy scores during all acquisition phase, retention, and transfer tests. Findings of the present study provided support for propositions of the OPTIMAL theory. Results are discussed in terms of motivational aspects of enhancing expectancies and autonomy and their role on facilitating motor learning.
Genome-Wide Identification and Comparative Analysis for OPT Family Genes in Panax ginseng and Eleven Flowering Plants

Herb genomics and comparative genomics provide a global platform to explore the genetics and biology of herbs at the genome level. Panax ginseng C.A. Meyer is an important medicinal plant for a variety of bioactive chemical compounds of which the biosynthesis may involve transport of a wide range of substrates mediated by oligopeptide transporters (OPT). However, information about the OPT family in the plant kingdom is still limited. Only 17 and 18 OPT genes have been characterized for Oryza sativa and Arabidopsis thaliana, respectively. Additionally, few comprehensive studies incorporating the phylogeny, gene structure, paralogs evolution, expression profiling, and co-expression network between transcription factors and OPT genes have been reported for ginseng and other species. In the present study, we performed those analyses comprehensively with both online tools and standalone tools. As a result, we identified a total of 268 non-redundant OPT genes from 12 flowering plants of which 37 were from ginseng. These OPT genes were clustered into two distinct clades in which clade-specific motif compositions were considerably conservative. The distribution of OPT paralogs was indicative of segmental duplication and subsequent structural variation. Expression patterns based on two sources of RNA-Sequence datasets suggested that some OPT genes were expressed in both an organ-specific and tissue-specific manner and might be involved in the functional development of plants. Further co-expression analysis of OPT genes and transcription factors indicated 141 positive and 11 negative links, which shows potent regulators for OPT genes. Overall, the data obtained from our study contribute to a better understanding of the complexity of the OPT gene family in ginseng and other flowering plants. This genetic resource will help improve the interpretation on mechanisms of metabolism transportation and signal transduction during plant development for Panax ginseng.
Evaluation of Pharmacist-Managed Medication Reconciliation Process after Hospital Discharge at an Internal Medicine Clinic

This paper is to analyze the impact of ambulatory care pharmacists on reduction of 30-day readmission rates of HDF (hospital discharge follow-up) patients and to assess a link between readmission rates and medication appointment compliance as well as medication discrepancies. This was a retrospective, single-center study that included all adult patients scheduled for HDF appointments at the UIM (university internal medicine) clinic of the MUSC (Medical University of South Carolina) from May 1, 2013 through December 31, 2013. A total of 470 patients were included with 190 patients attended their scheduled HDF appointments with their PCPs (primary care providers) and the ambulatory care pharmacists, and 280 patients attended their scheduled HDF appointments only with their PCPs. The 30-day readmission rate was 22% in patients who attended HDF appointments with both of the healthcare providers versus 41% in patients who attended HDF appointments only with their PCPs (P < 0.05). Medication errors and discrepancies are common during transitions of care. However, ambulatory care pharmacists play a crucial role in significantly reducing 30-day readmission rates after hospital discharge by providing thorough and complete medication reconciliation services.
Grupos de Lie

En el presente proyecto definimos lo que es un grupo de Lie, asi como su respectiva algebra de Lie canonica como aproximacion lineal a dicho grupo de Lie. El proceso de linealizacion, que es hallar el algebra de Lie de un grupo de Lie dado, tiene su inverso en el metodo de exponenciacion, mediante el cual dada un algebra de Lie hallamos su correspondiente grupo de Lie asociado. Se completa la exposicion presentando cuatro formas distintas de construir grupos de Lie, a saber: mediante el producto directo de grupos de Lie, mediante la obtencion de subgrupos algebraicos cerrados de un grupo de Lie, mediantes espacios recubridores y como grupos homogeneos por accion de un grupo de Lie.
Conditioned media derived from mesenchymal stem cell cultures: The next generation for regenerative medicine

Recent studies suggest that the main driving force behind the therapeutic activity observed in mesenchymal stem cells (MSCs) are the paracrine factors secreted by these cells. These biomolecules also trigger antiapoptotic events to prevent further degeneration of the diseased organ through paracrine signalling mechanisms. In comparison with the normal physiological conditions, an increased paracrine gradient is observed within the peripheral system of diseased organs that enhances the migration of tissue‐specific MSCs towards the site of infection or injury to promote healing. Thus, upon administration of conditioned media derived from mesenchymal stem cell cultures (MSC‐CM) could contribute in maintaining the increased paracrine factor gradient between the diseased organ and the stem cell niche in order to speed up the process of recovery. Based on the principle of the paracrine signalling mechanism, MSC‐CM, also referred as the secretome of the MSCs, is a rich source of the paracrine factors and are being studied extensively for a wide range of regenerative therapies such as myocardial infarction, stroke, bone regeneration, hair growth, and wound healing. This article highlights the current technological applications and advances of MSC‐CM with the aim to appraise its future potential as a regenerative therapeutic agent.
A Longitudinal Study of Psychological Factors as Mediators of the Relationship Between Insomnia Symptoms and Suicidal Ideation Among Young Adults.

STUDY OBJECTIVES Prior cross-sectional studies indicate that psychological factors (eg, perceived burdensomeness, thwarted belongingness) may explain the relationship between insomnia and suicidal ideation. Longitudinal studies are needed, however, to examine how these variables may relate to one another over time. Using data collected at three time points, this study aimed to evaluate various psychological factors as mediators of the longitudinal relationship between insomnia symptoms and suicidal ideation. METHODS Young adults (n = 226) completed self-report measures of insomnia symptoms, suicidal ideation, and psychological factors (ie, disgust with self, others, and the world; perceived burdensomeness; thwarted belongingness; and loneliness) at baseline (T1), 1-month follow-up (T2), and 2-month follow-up (T3). Bias-corrected bootstrap mediation models were utilized to evaluate each T2 psychological factor as a mediator of the relationship between T1 insomnia symptoms and T3 suicidal ideation severity, controlling for the corresponding T1 psychological factor and T1 suicidal ideation severity. RESULTS Only T2 disgust with others and T2 disgust with the world significantly mediated the relationship between T1 insomnia symptoms and T3 suicidal ideation severity. When both mediators were included in the same model, only T2 disgust with the world emerged as a significant mediator. CONCLUSIONS Findings indicate that disgust with others, and particularly disgust with the world, may explain the longitudinal relationship between insomnia symptoms and suicidal ideation among young adults. These factors may serve as useful therapeutic targets in thwarting the trajectory from insomnia to suicidal ideation. Research is needed, however, to replicate these findings in higher risk samples.
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Several types of GFI1B variants have been identified in patients with inherited bleeding and platelet disorders. This includes dominant-negative truncating variants affecting DNA binding,[1][1]–[4][2] missense variants of which the molecular mechanism is unclear,[5][3]–[7][4] and variants
Electroactive Smart Polymers for Biomedical Applications

The flexibility in polymer properties has allowed the development of a broad range of materials with electroactivity, such as intrinsically conductive conjugated polymers, percolated conductive composites, and ionic conductive hydrogels. These smart electroactive polymers can be designed to respond rationally under an electric stimulus, triggering outstanding properties suitable for biomedical applications. This review presents a general overview of the potential applications of these electroactive smart polymers in the field of tissue engineering and biomaterials. In particular, details about the ability of these electroactive polymers to: (1) stimulate cells in the context of tissue engineering by providing electrical current; (2) mimic muscles by converting electric energy into mechanical energy through an electromechanical response; (3) deliver drugs by changing their internal configuration under an electrical stimulus; and (4) have antimicrobial behavior due to the conduction of electricity, are discussed.
Determinants of Changes in Metabolic Syndrome Components in a 12-Year Cohort of Iranian Adults.

BACKGROUND The prevalence of metabolic syndrome (MetS) and its components have been increasing globally; therefore, there is a need for better understanding of MetS components and their risk factors, as well as their development and changes over time. This study was designed to identify the determinants of the changes in the components of MetS in a cohort of Iranian adults from 2001 to 2013. METHODS A total of 6504 adults, ≥35 years of age, were recruited from central Iran in 2001and were followed up in an ongoing longitudinal population-based study for 12 years. Of the total, 3356 subjects were followed between 2001 and 2007 and 1385 subjects were followed between 2001 and 2013. MetS components and its risk factors were measured by standard methods in 2001, 2007, and 2013. Mean changes in the MetS components from 2001 to 2013 were assessed using the Generalized Estimating Equations test with three time points. Multivariate linear regression model was applied to examine the association between socioeconomic and behavioral characteristics and changes in MetS components. Furthermore, multivariate logistic regression analysis was carried out to examine various factors associated with the development of abnormality of MetS components. RESULTS Examining the biochemical and anthropometric characteristics of individuals from 2001 to 2013 revealed a significant increase in systolic and diastolic blood pressure, fasting blood sugar, waist circumference, and body mass index, and a significant decrease in total cholesterol, triglyceride, and physical activity levels. Results also indicated that age, gender, marital status, education levels, and area of residence were significantly associated with the changes in MetS components. CONCLUSION This study concluded that baseline sociodemographic characteristics are important in determining changes of MetS components.
Carbon Nanotube/Graphene Nanoplatelet Hybrid Film as a Flexible Multifunctional Sensor

A flexible hybrid film consisting of graphene nanoplatelets (GNPs) and multi-walled carbon nanotubes (MWCNTs) was prepared and employed as a multifunctional sensor to monitor temperature and liquid leakage, based on the piezoresistive effect. The influences of the GNP content on the mechanical, thermal, and sensing properties were investigated. Experimental results showed that both the hardness and Young’s modulus of the hybrid film were decreased with an increasing GNP content, while the thermal conductivity exhibited in an opposite trend. The electrical resistance of the hybrid film decreased was linearly with an increase in temperature. The resistance change increased linearly with an increase of the solvent adsorption. These features demonstrated the potential applications of the hybrid film in the detection of temperature, and liquid leakage. The sensitivity of leakage detection is increasing with the increase of the GNP loading, while temperature sensitivity is in the opposite trend.