Miracle-dz/UniFAR-FTUs huggingface dataset:
Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population.

BACKGROUND An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes. METHOD A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups. RESULTS The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups. CONCLUSIONS There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.
Independence of Hot and Cold Executive Function Deficits in High-Functioning Adults with Autism Spectrum Disorder

Individuals with autistic spectrum disorder (ASD) display diverse deficits in social, cognitive and behavioral functioning. To date, there has been mixed findings on the profile of executive function deficits for high-functioning adults (IQ > 70) with ASD. A conceptual distinction is commonly made between “cold” and “hot” executive functions. Cold executive functions refer to mechanistic higher-order cognitive operations (e.g., working memory), whereas hot executive functions entail cognitive abilities supported by emotional awareness and social perception (e.g., social cognition). This study aimed to determine the independence of deficits in hot and cold executive functions for high-functioning adults with ASD. Forty-two adults with ASD (64% male, aged 18–66 years) and 40 age and gender matched controls were administered The Awareness of Social Inference Test (TASIT; emotion recognition and social inference), Letter Number Sequencing (working memory) and Hayling Sentence Completion Test (response initiation and suppression). Between-group analyses identified that the ASD group performed significantly worse than matched controls on all measures of cold and hot executive functions (d = 0.54 − 1.5). Hierarchical multiple regression analyses revealed that the ASD sample performed more poorly on emotion recognition and social inference tasks than matched controls after controlling for cold executive functions and employment status. The findings also indicated that the ability to recognize emotions and make social inferences was supported by working memory and response initiation and suppression processes. Overall, this study supports the distinction between hot and cold executive function impairments for adults with ASD. Moreover, it advances understanding of higher-order impairments underlying social interaction difficulties for this population which, in turn, may assist with diagnosis and inform intervention programs.
Glycemic control after initiating basal insulin therapy in patients with type 2 diabetes: a primary care database analysis

Background When target glycated hemoglobin (HbA1c) levels are not reached, basal insulin therapy should be considered in type 2 diabetes. The objective of this report was to describe the predictors of glycemic control (strict criterion: HbA1c ≤6.5%) during the first year after initiating basal insulin therapy in primary care. Methods The study applied a retrospective approach using a nationwide database in Germany (Disease Analyzer, IMS Health, January 2008 to December 2011, including 1,024 general and internal medicine practices). Potential predictors of glycemic control considered were age, sex, duration of diabetes, type of basal insulin, comedication with short-acting insulin, baseline HbA1c, previous oral antidiabetic drugs, diabetologist care, private health insurance, macrovascular and microvascular comorbidity, and concomitant medication. Multivariable logistic regression models were fitted with glycemic control as the dependent variable. Results A total of 4,062 type 2 diabetes patients started basal insulin (mean age 66 years, males 53%, diabetes duration 4.8 years, mean HbA1c 8.8%), of whom 295 (7.2%) achieved an HbA1c ≤6.5% during the one-year follow-up. Factors positively associated with HbA1c ≤6.5% in logistic regression were male sex (odds ratio 1.59, 95% confidence interval 1.23–2.04), insulin glargine (reference neutral protamine Hagedorn; odds ratio 1.43, 95% confidence interval 1.09–1.88), short-acting insulin (odds ratio 1.33, 95% confidence interval 1.01–1.76), and prior treatment with metformin, dipeptidyl peptidase-4 inhibitors, and diuretics. Lipid-lowering drugs were associated with a lower odds of reaching the glycemic target. Conclusion Few type 2 diabetes patients (7%) reached the glycemic target (HbA1c ≤6.5%) after one year of basal insulin therapy. Achievement of the glycemic target was associated with type of basal insulin, additional short-acting insulins, previous antidiabetic medication, and other comedication, eg, diuretics or lipid-lowering drugs.
The Impacts of Distributive Justice and Perceived Organizational Support on Turnover Intention within The Poultry Industry

Increased numbers of job-hopping in Indonesia might result in negative costs for organizations. Earlier research in turnover intention tends to emphasize organizational commitment yet it neglects the importance of perceived fairness in allocating results and perceived support from organizations. The aim of this study is to investigate the influence of distributive justice and perceived organizational support to turnover intention in a company within the poultry industry. This study implements quantitative method by administering surveys to 142 fulltime employees. Partial Least Square was utilized to test the research model. Results of this study demonstrated that perceived organizational support is the most significant factor for turnover intention and distributive justice has higher influence on perceived organizational support compared with turnover intention. These findings contribute to the development of employers and managers’ initiatives to promote support and distributive fairness toward their employees.
Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture

In the mammalian mitochondrial translation apparatus, the proteins and their partner RNAs are coded by two genomes. The proteins are nuclear-encoded and resemble their homologs, whereas the RNAs coming from the rapidly evolving mitochondrial genome have lost critical structural information. This raises the question of molecular adaptation of these proteins to their peculiar partner RNAs. The crystal structure of the homodimeric bacterial-type human mitochondrial aspartyl-tRNA synthetase (DRS) confirmed a 3D architecture close to that of Escherichia coli DRS. However, the mitochondrial enzyme distinguishes by an enlarged catalytic groove, a more electropositive surface potential and an alternate interaction network at the subunits interface. It also presented a thermal stability reduced by as much as 12°C. Isothermal titration calorimetry analyses revealed that the affinity of the mitochondrial enzyme for cognate and non-cognate tRNAs is one order of magnitude higher, but with different enthalpy and entropy contributions. They further indicated that both enzymes bind an adenylate analog by a cooperative allosteric mechanism with different thermodynamic contributions. The larger flexibility of the mitochondrial synthetase with respect to the bacterial enzyme, in combination with a preserved architecture, may represent an evolutionary process, allowing nuclear-encoded proteins to cooperate with degenerated organelle RNAs.
Ontology-driven data collection and validation framework for the diagnosis of vehicle healthmanagement

The current warranty data collection processes exhibit several data quality issues – the level of detail and precision is missing in the collected data, the semantic heterogeneity is observed and no systematic data quality validation mechanism to automatically certify the data quality. Such data cannot be translated seamlessly into the knowledge assets to perform business functions, for example, fault diagnosis. An ontology-driven structured data collection framework is proposed to acquire the necessary data in the warranty domain. The proposed framework uses the integrated vehicle health management ontology as an information model to populate necessary data acquisition fields of the framework. A novel three-dimensional data quality metric is proposed to validate the completeness, correctness and relevance of newly collected data. We also evaluate the performance of the tool by using the real-life data. The data accuracy precision after using the framework has been improved from 0.30 to 0.80, whereas the recall is improved from 0.28 to 0.70. Furthermore, the precision and recall of the tool is evaluated for the 500 real-life field failure cases and it was greater than 90% for data completeness and relevance. Throughout this paper we will use the words ‘correctness’ and ‘accuracy’ interchangeably.
Clonal Propagation of Melia Volkensii (Gűrke) Trees for Seed Orchard Establishment in Kiambeere, Embu County, Kenya

xiii CHAPTER ONE: INTRODUCTION . 1 1.1 Background to the Study . 1 1.2 Statement of the Problem . 4 1.3 Research Questions . 7 1.4 Research Objectives . 7 1.5 Hypotheses . 7 1.6 Significance of the Study . 8 1.7 Limitation of the Study . 8 1.8 Definition of Significant Terms . 9 CHAPTER TWO: LITERATURE REVIEW . 11 2.1 Dry land Forests of Kenya . 11 2.2 Melia volkensii as a Solution to the ASALs . 13 2.3 Taxonomy and Botanic Description of M.volkensii . 14 2.4 Ecological Distribution and Reproduction of Melia volkensii . 14 2.5 Propagation and Management of M. volkensii . 16 2.5. 1 Propagation of Melia Volkensii by Seeds . 20 2.5. 2 Vegetative Propagation of Melia . 23 2.5. 3 Propagation Environment . 31 2.5. 4 Clonal Selection in Propagation of Melia . 32 2.5. 5 Rooting Hormones in Propagation . 33 2.5. 6 Seed Orchard Production . 37 2.6 Functional Uses of Melia volkensii . 38 2.7 Pest and Disease Management for Melia volkensii . 40
Phase I Study of U3-1287, a Fully Human Anti-HER3 Monoclonal Antibody, in Patients with Advanced Solid Tumors

Purpose: HER3 is a key dimerization partner for other HER family members, and its expression is associated with poor prognosis. This first-in-human study of U3-1287 (NCT00730470), a fully human anti-HER3 monoclonal antibody, evaluated its safety, tolerability, and pharmacokinetics in patients with advanced solid tumor. Experimental Design: The study was conducted in 2 parts: part 1—sequential cohorts received escalating doses (0.3–20 mg/kg) of U3-1287 every 2 weeks, starting 3 weeks after the first dose; part 2—additional patients received 9, 14, or 20 mg/kg U3-1287 every 2 weeks, based on observed tolerability and pharmacokinetics from part 1. Recommended phase II dose, adverse event rates, pharmacokinetics, and tumor response were determined. Results: Fifty-seven patients (part 1: 26; part 2: 31) received U3-1287. As no dose-limiting toxicities were reported, the maximum-tolerated dose was not reached. The maximum-administered dose was 20 mg/kg every 2 weeks. The most frequent adverse events related to U3-1287 were fatigue (21.1%), diarrhea (12.3%), nausea (10.5%), decreased appetite (7.0%), and dysgeusia (5.3%). No patient developed anti-U3-1287 antibodies. In these heavily pretreated patients, stable disease was maintained 9 weeks or more in 19.2% in part 1 and 10 weeks or more in 25.8% in part 2. Conclusion: U3-1287 treatment was well tolerated, and some evidence of disease stabilization was observed. Pharmacokinetic data support U3-1287 dosing of 9 to 20 mg/kg every 2 to 3 weeks. Combination studies of U3-1287 are ongoing. Clin Cancer Res; 19(11); 3078–87. ©2013 AACR.
Music Boundary Detection Based on a Hybrid Deep Model of Novelty, Homogeneity, Repetition and Duration

Current state-of-the-art music boundary detection methods use local features for boundary detection, but such an approach fails to explicitly incorporate the statistical properties of the detected segments. This paper presents a music boundary detection method that simultaneously considers a fitness measure based on the boundary posterior probability, the likelihood of the segmentation duration sequence, and the acoustic consistency within a segment. Evaluation shows that our method improves segmentation F0.58-measure by about 10 points compared to DNN with peak-picking, a popular scheme used in the state-of-the-art music boundary detectors.
Career Choice and Longevity in U.S. Psychiatric-Mental Health Nurses

The demand for mental health services in the United States taxes the existing care continuum and is projected to increase as federal initiatives such as the Affordable Care Act and mental health parity improve access to, and coverage for, mental health services. Quality health care providers, such as psychiatric-mental health nurses, are needed to bolster the mental health system. Prior research has focused on the unpopularity of psychiatric nursing as a career choice for nursing students. The purpose of this study is to understand how seasoned psychiatric nurses came to choose and remain in the specialty; descriptive phenomenology is used. In a face-to-face interview, eight registered nurses described their experiences with psychiatric nursing as a student, their entry into psychiatric nursing, and factors related to their longevity in the specialty. Giorgi's Existential Phenomenological Research Method was employed to analyze the interview data. Three themes emerged related to career choice: Interest Developed Prior to or While in Nursing School, Personal Relevance, and Validation of Potential. Three themes emerged related to retention: Overcoming Stereotypes to Develop Career Pride, Positive Team Dynamics, and Remaining Hopeful. Nurse educators play an important role in identifying talent, validating capability, enhancing interest, and increasing students’ confidence to pursue a psychiatric nursing career, while nursing administrators and clinical specialists play a key role in retention. Findings also stimulate pertinent questions surrounding the long-term viability of the psychiatric-mental health nursing specialty.
In vivo evaluation of human dental pulp stem cells differentiated towards multiple lineages

An increasing number of investigations supports that adult stem cells have the potential to differentiate into matured cell types beyond their origin, a property defined as plasticity. Previously, the plasticity of stem cells derived from dental pulp (DPSC) has been confirmed by culturing cells in lineage‐specific media in vitro. In the current study, the in vivo differentiation or maturation potential of DPSC was further analysed, by transplanting human DPSC/collagen scaffold constructs into subcutaneous tissue of immunocompromised mice. Cells received odontogenic, adipogenic or myogenic pre‐induction, whereas control samples received no stimulation. Also blank collagen scaffolds were implanted. The results indicated that seeded cells produced tissue within the implanted constructs after 3 weeks of implantation. According to morphological and phenotypical changes, the pre‐induced DPSC showed the ability to further differentiate along odontogenic, myogenic and adipogenic pathways in vivo. Moreover, DPSC without pre‐treatment were able to spontaneously differentiate along odontogenic and adipogenic directions in vivo. However, only limited mature morphological changes were detected in histology. In summary, stem cells derived from human dental pulp form a suitable source for tissue engineering and cell‐mediated therapy, although additional analyses should be considered. Copyright © 2008 John Wiley & Sons, Ltd.
The Serrate locus of Drosophila and its role in morphogenesis of the wing imaginal discs: control of cell proliferation.

The Drosophila gene Serrate encodes a transmembrane protein with 14 EGF-like repeats in its extracellular domain. Here we show that loss-of-function mutations in this gene lead to larval lethality. Homozygous mutant larvae fail to differentiate the anterior spiracles, exhibit poorly developed mouth-hooks and show a severe reduction in the size of the wing and haltere primordia, which is not due to cell death. The few homozygous mutant escapers that pupariate develop into pharate adults that almost completely lack wings and halteres. Clonal analysis in the adult epidermis demonstrates a requirement for Serrate during wing and haltere development. Targeted ectopic expression of Serrate in the imaginal discs using the yeast transcriptional activator Gal4 results in regionally restricted induction of cell proliferation, e.g. the ventral tissues in the case of the wings and halteres. The results suggest that the wild-type function of Serrate is required for the control of position-specific cell proliferation during development of meso- and metathoracic dorsal discs, which in turn exerts a direct effect on morphogenesis.
Levetiracetam suppresses neuronal network dysfunction and reverses synaptic and cognitive deficits in an Alzheimer’s disease model

In light of the rising prevalence of Alzheimer’s disease (AD), new strategies to prevent, halt, and reverse this condition are needed urgently. Perturbations of brain network activity are observed in AD patients and in conditions that increase the risk of developing AD, suggesting that aberrant network activity might contribute to AD-related cognitive decline. Human amyloid precursor protein (hAPP) transgenic mice simulate key aspects of AD, including pathologically elevated levels of amyloid-β peptides in brain, aberrant neural network activity, remodeling of hippocampal circuits, synaptic deficits, and behavioral abnormalities. Whether these alterations are linked in a causal chain remains unknown. To explore whether hAPP/amyloid-β–induced aberrant network activity contributes to synaptic and cognitive deficits, we treated hAPP mice with different antiepileptic drugs. Among the drugs tested, only levetiracetam (LEV) effectively reduced abnormal spike activity detected by electroencephalography. Chronic treatment with LEV also reversed hippocampal remodeling, behavioral abnormalities, synaptic dysfunction, and deficits in learning and memory in hAPP mice. Our findings support the hypothesis that aberrant network activity contributes causally to synaptic and cognitive deficits in hAPP mice. LEV might also help ameliorate related abnormalities in people who have or are at risk for AD.
All-cause mortality associated with physical activity during leisure time, work, sports, and cycling to work.

BACKGROUND Physical activity is associated with low mortality in men, but little is known about the association in women, different age groups, and everyday activity. OBJECTIVE To evaluate the relationship between levels of physical activity during work, leisure time, cycling to work, and sports participation and all-cause mortality. DESIGN Prospective study to assess different types of physical activity associated with risk of mortality during follow-up after the subsequent examination. Mean follow-up from examination was 14.5 years. SETTING Copenhagen University Hospital, Copenhagen, Denmark. PARTICIPANTS Participants were 13,375 women and 17,265 men, 20 to 93 years of age, who were randomly selected. Physical activity was assessed by self-report, and health status, including blood pressure, total cholesterol level, triglyceride levels, body mass index, smoking, and educational level, was evaluated. MAIN OUTCOME MEASURE All-cause mortality. RESULTS A total of 2,881 women and 5,668 men died. Compared with the sedentary, age- and sex-adjusted mortality rates in leisure time physical activity groups 2 to 4 were 0.68 (95% confidence interval, 0.64-0.71), 0.61 (95% confidence interval, 0.57-0.66), and 0.53 (95% confidence interval, 0.41-0.68), respectively, with no difference between sexes and age groups. Within the moderately and highly active persons, sports participants experienced only half the mortality of nonparticipants. Bicycling to work decreased risk of mortality in approximately 40% after multivariate adjustment, including leisure time physical activity. CONCLUSIONS Leisure time physical activity was inversely associated with all-cause mortality in both men and women in all age groups. Benefit was found from moderate leisure time physical activity, with further benefit from sports activity and bicycling as transportation.
Dynamic Wolbachia prevalence in Acromyrmex leaf‐cutting ants: potential for a nutritional symbiosis

Wolbachia are renowned as reproductive parasites, but their phenotypic effects in eusocial insects are not well understood. We used a combination of qrt‐PCR, fluorescence in situ hybridization and laser scanning confocal microscopy to evaluate the dynamics of Wolbachia infections in the leaf‐cutting ant Acromyrmex octospinosus across developmental stages of sterile workers. We confirm that workers are infected with one or two widespread wsp genotypes of Wolbachia, show that colony prevalence is always 100% and characterize two rare recombinant genotypes. One dominant genotype is always present and most abundant, whereas another only proliferates in adult workers of some colonies and is barely detectable in larvae and pupae. An explanation may be that Wolbachia genotypes compete for host resources in immature stages while adult tissues provide substantially more niche space. Tissue‐specific prevalence of the two genotypes differs, with the rarer genotype being over‐represented in the adult foregut and thorax muscles. Both genotypes occur extracellularly in the foregut, suggesting an unknown mutualistic function in worker ant nutrition. Both genotypes are also abundant in the faecal fluid of the ants, suggesting that they may have extended functional phenotypes in the fungus garden that the ants manure with their own faeces.