Miracle-dz/UniFAR-FTUs huggingface dataset:
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum

Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) pathogenic variant who fulfilled the ALS El Escorial criteria, and we review relevant literature. Using whole-exome sequencing, we identified a deleterious point variant in DYNC1H1 (c.4106A > G (p. Q1369R)) as a likely contributor to the ALS phenotype. In silico structural analysis, molecular dynamics simulation, and protein stability analysis predicted that this variant may increase DYNC1H1 protein stability. Moreover, this variant may disrupt binding of the transcription factor TFAP4, thus potentially acting as duon. Because (a) DYNC1H1 forms part of a ubiquitous eukaryotic motor protein complex, and (b) disruption of dynein function by perturbation of the dynein–dynactin protein complex is implicated in other motor neuron degenerative conditions, this variant could disrupt processes like retrograde axonal transport, neuronal migration, and protein recycling. Our findings expand the heterogenous spectrum of the DYNC1H1 pathogenic variant−associated phenotype and prompt further investigations of the role of this gene in ALS.
Multidisciplinary, early mobility approach to enhance functional independence in patients admitted to a cardiothoracic intensive care unit: a quality improvement programme

Early mobilisation following cardiac surgery is vital for improved patient outcomes, as it has a positive effect on a patient’s physical and psychological recovery following surgery. We observed that patients admitted to the cardiothoracic intensive care unit (CTICU) following cardiac surgery had only bed exercises and were confined to bed until the chest tubes were removed, which may have delayed patients achieving functional independence. Therefore, the CTICU team implemented a quality improvement (QI) project aimed at the early mobilisation of patients after cardiac surgery. A retrospective analysis was undertaken to define the current mobilisation practices in the CTICU. The multidisciplinary team identified various practice gaps and tested several changes that led to the implementation of a successful early mobility programme. The tests were carried out and reported using rapid cycle changes. A model for improvement methodology was used to run the project. The outcomes of the project were analysed using standard ‘run chart rules’ to detect changes in outcomes over time and Welch’s t-test to assess the significance of these outcomes. This project was implemented in 2015. Patient compliance with early activity and mobilisation gradually reached 95% in 2016 and was sustained over the next 3 years. After the programme was implemented, the mean hours required for initiating out-of-bed-mobilisation was reduced from 22.77 hours to 11.74 hours. Similarly, functional independence measures and intensive care unit mobility scores also showed a statistically significant (p<0.005) improvement in patient transfers out of the CTICU. Implementing an early mobility programme for post-cardiac surgery patients is both safe and feasible. This QI project allowed for early activity and mobilisation, a substantial reduction in the number of hours required for initiating out-of-bed mobilisation following cardiac surgery, and facilitated the achievement of early ambulation and functional milestones in our patients.
Day-to-day variation in sleep duration is associated with increased all-cause mortality.

STUDY OBJECTIVES There is paucity of data on association between day-to-day variation in sleep pattern and all-cause mortality. We aim to investigate if day-to-day variation in sleep duration and onset of sleep are associated with cardiovascular and all-cause mortality. METHODS Data belonging to 388 unique subjects from the Midlife in the United States (MIDUS) 2 Biomarker study (2004-09) was used in our study. Sleep onset, duration, sleep-wake cycles were collected for 7 consecutive days using the Actiwatch device. Sleep irregularity was assessed using mean and standard deviations in sleep duration and time of onset of sleep over 7 days. Cox proportional regression analysis and Fine and Gray subdistribution method were used with all-cause and cardiovascular mortality, respectively. RESULTS Over a median of 8.6 years of follow up, 37 patients died including 10 deaths due to cardiovascular causes. There was no statistically significant increase in cardiovascular mortality with variation in sleep duration highest vs lowest tertile: HR 4.00(0.45-35.48, p 0.21). However, increased all-cause mortality was seen with the highest vs lowest tertile HR 3.99(1.33-11.94, p 0.01). Multivariable model adjusting for confounders had higher all-cause mortality with increased sleep duration variation, highest vs lowest tertile HR 4.85(1.52-15.49, P < 0.01). CONCLUSIONS Day to day variation in sleep duration is associated with increased all-cause mortality but not cardiovascular mortality after adjusting for mean sleep duration, inflammation, diabetes, age, BMI, renal function and blood pressure. Irregularity in the onset of sleep is not associated with all-cause mortality or cardiovascular mortality.
Psychological and social risk factors associated with development of psychopathology, controlling for biological influence

Purpose of review To evaluate and summarize recent research investigating psychological, social and environmental risk factors for development of psychopathology in childhood, while controlling for biological (genetic) influences by using a matched sibling, twin or adoptee design. Recent findings Nineteen studies were included, of which eleven were longitudinal and eight were cohort studies. Included studies used adequate designs and statistical methods, controlled for unmeasured confounders and, in many cases, for other measured risk factors. None of the studies used the framework for environmental factors presented in the International Classification of Functioning, Disability and Health (ICF). The outcome variable psychopathology was rarely assessed using a diagnostic standard. The findings were sorted in five themes based on included exposures: ‘Social support, social rejection and perceived identity,’ ‘Early symptoms of psychopathology,’ ‘Antibiotic exposure,’ ‘Factors in the family’ and ‘Nature versus nurture’. Summary Using twin/sibling/adoptee designs, a number of unique predictors of psychopathology were found, even when controlling for familial confounders and other specified risk factors. Future studies of psychopathology development should benefit from longitudinal, genetically sensitive designs and from use of diagnostic standards for psychopathology outcome, and should also incorporate ICF for classification of risk factors.
Intradialytic periodized exercise improves cardiopulmonary fitness and respiratory function: A randomized controlled trial

Chronic kidney disease (CKD) is a factor that predisposes to gradual physical deconditioning from its early stages leading to cardiorespiratory fitness and musculoskeletal system impairment. We evaluated the effects of combined and periodized intradialytic exercise training on cardiopulmonary fitness and respiratory function in HD subjects.
Distribution of Amniotic Stem Cells in Human Term Amnion Membrane.

Amnion membrane studies related to miscarriage have been conducted in the field of obstetrics and gynecology. However, the distribution of stem cells within the amnion, and the differences in the properties of each type of stem cells are still not well understood. We address this gap in knowledge in the present study where we morphologically classified, the amnion membrane, and we clarified the distribution of stem cells here to identify functionally different amniotic membrane-derived stem cells. The amnion is composed of the chorion frondosum region [umbilical cord -adjacent amnion (area A) and the placenta-covered amnion surrounding the umbilical cord (area B)] as well as the reflected amnion (area C). We found that human amnion epithelial stem cells (HAEC) that strongly express stem cell markers were abundant in region A. In addition to having the surface markers TRA-1-60, Tra-1-81, SSEA4 and SSEA3, HAEC are OCT-3/4 positive and have alkalinephosphatase activity. Human amniotic mesenchymal stem cells (HAMC) expressed CD73, and were found in region A and B, the expression of BCRP which is related to isolate stem cells as called SP population cells. Other cells that expressed the undifferentiated transcription factors KLF-A, OCTA, Oct3/4, c-MYC, and Sox2 were diffusely distributed in region C. These data suggest that different types of stem cells exist each functional region. Thus, understanding the distribution of the subclasses of stem cells would allow for the efficient harvest of suitable HAE and HAM stem cells for disease.
Self-Care Capacity and Its Relationship to Age, Disability, and Perceived Well-Being in Medicare Beneficiaries

Supplemental digital content is available in the text. Background Self-care is a multicomponent set of capacities that influence beliefs about health and well-being. Objectives We examined the relationship between self-care capacity, age, and disability status with two perceptions of well-being in a cohort of Medicare beneficiaries. Methods The current study is part of a multisite research project to determine factors associated with cross-sectional and longitudinal morbidity and mortality trajectories observed in Medicare beneficiaries. Variable selection was informed by the health disparities and outcomes model. Using data from the 2013 Medicare Current Beneficiary Survey and logistic regression models, we determined associations between self-care capacity, including indicators of self-care ability and self-care agency and two perceptions of well-being. Participants were divided into four groups based on how they qualified for Medicare: (a) over 65 years of age, and below 65 years of age and disabled because of (b) physical or (c) mental disorder, or (d) disabled and could not be classified as physically or mentally disabled as the primary cause of eligibility. Results Self-care ability limitations in activities of daily living (ADL), instrumental activities of living (IADL), and social activity participation were associated with both health perceptions. Those with physical disabilities reported more ADL and IADL limitations when compared with the other eligibility groups and were significantly more likely to have negative health perceptions. Those with serious mental illness were most likely to report the most severe IADL limitations. The over 65 years of age group reported less self-care incapacity than the other three eligibility types. Other components of self-care, including health literacy, agency, and health behaviors, significantly influenced perceptions of health. Women and people identifying as non-Whites were more likely to have negative health perceptions. Discussion Self-care capacity is a complex construct, and its varied elements have differential relationships with perceptions of well-being. Those with physical disabilities reported more self-care limitations, poorer perceived health, and more health worries than the other groups. Still, there were different patterns of self-care capacities in the serious mental illness type—especially in IADL limitations. The study adds empirical evidence to previous research documenting inequities in health outcomes for women and non-Whites. Findings provide empirical support for the health disparities and outcomes model.
An integrated process for the production of 2,5-dihydroxymethylfuran and its polymer from fructose

We report for the first time an integrated process for the selective production of 2,5-dihydroxymethylfuran (DHMF) from fructose via a two-step reaction in 1-butanol (BuOH). Fructose was initially dehydrated to 5-hydroxymethylfurfural in >95% yield using Amberlyst-15, and the resulting solution was directly transformed into DHMF in >97% yield by liquid-phase hydrogenation over a Cu(50)–SiO2 nanocomposite. This nanocomposite catalyst was demonstrated to be highly stable, with no Cu leaching or catalyst deactivation observed. The obtained DHMF/BuOH mixture was then transformed successfully into poly(2,5-furandimethylene succinate) by reaction with succinic acid. Thus, from both environmental and industrial perspectives, this protocol is a novel and effective method for producing a biomass-derived polymer from fructose.
Evaluation of the growth, drought tolerance and biochemical compositions of introduced red currant cultivars and Russian breeding genotypes in temperate continental climate

Abstract The aim of the work was to study the growth, drought tolerance and biochemical characteristics of introduced cultivars (‘Jonkheer van Tets’, ‘Hollandische Rote’ and ‘Viksne’) and some selected Russian cultivars and red currant genotypes (‘Shchedraya’, ‘Natali’, 129-21-61, 111-19-81, 261-65-19 and 271-58-24). The studies were conducted between 2014 and 2018 under temperate continental climate conditions. The intensity of transpiration was determined by using a torsion balance. The soluble solid concentration (SSS – % Brix) of the fruits was determined by using a digital refractomer. The content of the sum of sugars was determined by the weight method according to Bertrand's method. Ascorbic acid content was then determined by the iodometric method. The total phenolic content was determined by a colourimetric method. Climatic conditions were found to have significant influence on the disease severity of the red currant genotypes, while the infections caused by Sphaerotheca mors-uvae increased in optimum seasons and damages caused by Pseudopeziza ribis increased in drought seasons. None of the selected genotypes was found to be resistant to any of the diseases/pests, but ‘Jonkheer van Tets’, ‘Hollandische Rote’ and 111-19-81 were less affected by these diseases/pests. Weight, yield and raceme length of berries and the number of berries in a raceme were found to be higher in optimum seasons, and different cultivars/genotypes had superior characteristics for different parameters. The highest berry weight was observed in the 261-65-19 genotype (0.65 g), while the highest yield was noted in ‘Hollandische Rote’ (15.6 t · ha−1). It was also found that the water content of leaves and transpiration have a strong positive relationship with soil moisture at a depth of 0–200 mm but a week correlation with soil moisture at a depth of 200–400 mm. Results also showed that the transpiration of leaves decreases in later developmental stages (July). Hierarchical clustering suggested four clusters: the introduced cultivars produced one cluster, Russian cultivars are another cluster, 261-65-19, 111-19-81 and 129-21-61 genotypes make up a third cluster and the 271-58-24 genotype (superior in terms of phenolic contents) forms the fourth cluster.
Another PASS: A Reproduction Study of the Human Evaluation of a Football Report Generation System

This paper reports results from a reproduction study in which we repeated the human evaluation of the PASS Dutch-language football report generation system (van der Lee et al., 2017). The work was carried out as part of the ReproGen Shared Task on Reproducibility of Human Evaluations in NLG, in Track A (Paper 1). We aimed to repeat the original study exactly, with the main difference that a different set of evaluators was used. We describe the study design, present the results from the original and the reproduction study, and then compare and analyse the differences between the two sets of results. For the two ‘headline’ results of average Fluency and Clarity, we find that in both studies, the system was rated more highly for Clarity than for Fluency, and Clarity had higher standard deviation. Clarity and Fluency ratings were higher, and their standard deviations lower, in the reproduction study than in the original study by substantial margins. Clarity had a higher degree of reproducibility than Fluency, as measured by the coefficient of variation. Data and code are publicly available.
Empirical green's function deconvolution applied for vrancea earthquakes occurred in the last ten years

The Vrancea seismogenic area, located at the South-Eastern Carpathians in Romania, is generating extreme destructive subcrustal earthquakes in Europe. The largest events generated in the last ten years in the Vrancea subcrustal domain occurred on May 14, 2005 (01:53, 45.64oN, 26.53oE, h=149 km, Mw = 5.5), April 25, 2009 (17:18, 45.68oN, 26.62oE, h=110 km, Mw = 5.4) and October 6, 2013 (01:37, 45.67oN, 26.58oE, h=135 km, Mw = 5.2). The purpose of the present paper is to determine the seismic source parameters of these events using the Empirical Green s function deconvolution and spectral ratios techniques. To this aim, we selected a set of empirical Green s functions in association with the three main events, as co-located events with similar focal mechanism. The large number of high-quality waveforms recorded for the main shock-EGF pairs provides a good database to constrain source parameters, even though the events are relatively small and are recorded practically in the far field. The seismic moment-source radius scaling and stress drop values range, match well the results as previously obtained on larger data sets.
Edinburgh SLT and MT system description for the IWSLT 2014 evaluation

This paper describes the University of Edinburgh’s spoken language translation (SLT) and machine translation (MT) systems for the IWSLT 2014 evaluation campaign. In the SLT track, we participated in the German↔English and English→French tasks. In the MT track, we participated in the German↔English, English→French, Arabic↔English, Farsi→English, Hebrew→English, Spanish↔English, and Portuguese-Brazil↔English tasks. For our SLT submissions, we experimented with comparing operation sequence models with bilingual neural network language models. For our MT submissions, we explored using unsupervised transliteration for languages which have a different script than English, in particular for Arabic, Farsi, and Hebrew. We also investigated syntax-based translation and system combination.
A rare of Turner syndrom a cas

Turner Syndrome (TS) is a common chromosomal dis order caused by numerical or structural aberrations of se chromosomes occurring in 1:2, 000 to 1:2,500 liveborn females [1]. 45,X monosomy karyotype accounts fo 50-60% of TS cases. Most mosaicisms karyotypes (a 45,X/46,X,X), and partial 45, X with a second structurall abnormal X chromosome consisting of either two short o two long arms [2, 3]. The clinical manifestations of TS in clude short stature, gonadal dysgenesis resulting from de layed puberty, primary amenorrhea, and infertility [4-6]. TS patients produce autoantibodies due to the abnorma X chromosome, which may lead to autoimmune diseases TS patients also have concurrent diseases, such as hypo thyroidism, renal abnormalities, neurocognitive disorders and congenital/acquired cardiovascular diseases [7, 8]. Th relationship between thyroid and TS has been reported pre viously [9]. It has been suggested that there might be a casual rela tionship between aberrations of the X-chromosome and th risk of autoimmune hypothyroidism. Autoimmune hypo thyroidism is common, with an annual incidence of 3.2% i TS. It is suggested that the thyroid function should b checked regularly in TS patients [10]. The aim of this case report presentation is to describ a mosaic 45,X/46,X,i(X)(q10)/47,X,i(X)(q10),i(X)(q10) 49,X,i(X)(q10),i(X)(q10),i(X)(q10),i(X)(q10) with TS, ac companied by a high incidence of autoimmune hypothy roidism.
RESPONSE OF MEXICAN PETUNIA (RUELLIA BRITTONIANA L.) TO SALINITY, ORGANIC AND BIO MATERIALS

Mexican petunia (Ruellia brittoniana), belongs to the of family Acanthaceae. It is native to Mexico but it has escaped cultivation and established in disturbed areas in the south eastern of the United States and can be found invading habitats across the state of Florida which is regarded as the second largest producer of ornamental plants in the United States (Hodges and Haydu, 2002). Water scarcity is the greatest crisis that humanity face in the 21st century (Singh, 2008). May be water is a renewable resource, but its availability is variable and limited. Nearly every country in the world experiences water shortages during certain periods of the year (Gleick, 1993) and more than 80 countries suffer from serious water deficiency (Jin et al., 2007). To face the deficiency of fresh water for the sustainable development of agriculture, there is increasing awareness among agricultural scientists and planners in the utilization of at least diluted seawater for irrigation of crops (Liu et al., 2003). A series pot of experiments were conducted at Kaferelsheikh University Farm during 2014/2015 and 2015/2016 throughout the year. Seawater was diluted with freshwater to obtain the required percentages of 0, 5, 10, 15, 20 and 30%, in addition; the plants were foliar sprayed with organic or bio materials (humic acid, amino acids and active dry yeast). Each pot (20 cm diameter plastic pots) received 200 ml of the suitable diluted seawater every two days and foliar sprayed with organic materials fortnightly throughout the study course (Rahman et al., 2019). The obtained results showed that, plants treated with 5% seawater in combination with humic acid surpassed control one in all measured traits, namely plant height, shoot fresh and dry weights, as well as improved the root length and weight, increased the flowering number and duration, as well as total chlorophyll. All measured traits gradually declined as the seawater percentage increased in the irrigation water. Seawater at 20% in combination with amino acids treatment significantly increased plant proline content.
TREND ANALYSIS OF STREAMFLOW AND ITS RELATION TO RAINFALL IN THE LOWER TAMIRAPARANI SUB-BASIN OF TAMILNADU, INDIA

Trend analysis of streamflow and its linkages to rainfall can facilitate the development of water resource management plans for watersheds. The present study focuses on trends in observed streamflow of the lower Tamiraparani river sub-basin in Tamilnadu, India using Mann – Kendall test and Sen’s slope estimator for a period of 30 years. From this analysis, both the annual streamflow, annual rainfall increased very marginally at the rate of 0.1799 m/s/year and 4.3741 mm/year, respectively. Similarly, in the northeast monsoon period, both the rainfall and streamflow were increased very minimally during the analysis period. However, the observations made during the southwest monsoon showed declining trends for most of the rainfall stations and no significant trend was observed for streamflow. The calculated Spearman’s Rho correlation factor (ρ) between rainfall and streamflow showed weak correlation during summer (0.26) and very strong correlation during northeast monsoon (0.83), strong correlation during southwest monsoon (0.53) and moderate correlation during winter (0.40). From this analysis, using Mann – Kendal test and Spearman’s correlation it implies that other than precipitation and temperature, urbanization, watershed and ecological development of the catchment area could have also influenced the trends of streamflow.