Miracle-dz/UniFAR-FTUs huggingface dataset:
AON-Mediated Exon Skipping for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a genetic, X-chromosome recessive, severe and progressive muscle wasting disorder, affecting around 1 in 3500 newborn boys. The onset of the disease is in early childhood and, nowadays, most children are diagnosed before the age of 5. The first signs of muscular weakness become apparent around the age of 2 or 3 years. In most patients the age at which the child starts to walk is delayed (retarded motor development). The children have less endurance and difficulties with running and climbing stairs (Moser, 1984). Gower’s sign is a reflection of the weakness of the muscles of the lower extremities (knee and hip extensors): the child helps himself to get upright from sitting position by using his upper extremities: first by rising to stand on his arms and knees, and then “walking” his hands up his legs to stand upright (Gowers, 1895). Muscle wasting is often symmetrical, however not all muscles are affected to the same extent. A prominent feature of the disease is enlargement of the calve muscle, caused by replacement of muscle fibres by connective and adipose tissue. Furthermore, the pelvic girdle, trunk and abdomen are severely affected and to a lesser extent the shoulder girdle and proximal muscles of the upper extremities. Progressive weakness and contractures of the leg muscles lead to wheelchair-dependency around the age of 10. Thereafter the muscle contractions increase rapidly leading to spinal deformities and scoliosis, often with an asymmetric distribution pattern. Involvement of the intercostal muscles and distortion of the thorax lead to respiratory failure and patients often require assisted ventilation in the mid to late teens. Thereafter dilated cardiomyopathy becomes apparent and most patients die before the age of 30. Another common feature is mental retardation (IQ less than 70) in around 20-30% of the patients (Emery, 2002).
Risk Factors for Autistic Regression

A subgroup of children diagnosed with autism experience developmental regression featured by a loss of previously acquired abilities. The pathogeny of autistic regression is unknown, although many risk factors likely exist. To better characterize autistic regression and investigate the association between autistic regression and potential influencing factors in Chinese autistic children, we conducted an ambispective study with a cohort of 170 autistic subjects. Analyses by multiple logistic regression showed significant correlations between autistic regression and febrile seizures (OR = 3.53, 95% CI = 1.17-10.65, P = .025), as well as with a family history of neuropsychiatric disorders (OR = 3.62, 95% CI = 1.35-9.71, P = .011). This study suggests that febrile seizures and family history of neuropsychiatric disorders are correlated with autistic regression.
In Vivo Monitoring of the Growth of Fertilized Eggs of Medaka Fish (Oryzias latipes) by Near-Infrared Spectroscopy and Near-Infrared Imaging—A Marked Change in the Relative Content of Weakly Hydrogen-Bonded Water in Egg Yolk Just before Hatching

The present study develops further our previous study of in vivo monitoring at the molecular level of the embryonic development in Japanese medaka fish (Oryzias latipes) using near-infrared (NIR) spectroscopy and NIR imaging. NIR spectra were measured nondestructively for three major parts of fertilized medaka eggs (the embryonic body, oil droplets, and egg yolk) from the first day after fertilization to the day just before hatching (JBH). Changes in the contents of chemical components such as proteins, water, and lipids were monitored in situ during embryonic development. A marked change in the relative content of weakly hydrogen-bonded water was observed in the egg yolk JBH. Principal component analysis (PCA) was carried out using the NIR spectra data of the egg yolk and embryo on the fifth day after fertilization. The PCA clearly separates the egg yolk data from the embryo body parts. Principal component PC1 and PC2 loading plots suggest that the hydrogen bonding structure of water in the egg yolk is considerably different to those of the other parts and the fraction of weakly hydrogen-bonded water in the egg yolk is smaller than that in the embryonic body. NIR images developed from the intensities of peaks of second derivative spectra owing to water and proteins show their different distribution patterns. Images of the ratio of strongly and weakly hydrogen-bonded water confirmed that oil droplets and embryonic body parts have higher and lower ratios, respectively, of strongly hydrogen-bonded water than do the other parts. The images developed from the intensity of the peaks at 4864 and 4616 cm−1 related to the proteins indicated that the egg yolk contains a higher concentration of protein than do the other parts. The peaks at 5756 and 4530 cm−1 caused by the protein secondary structures of α-helix and β-sheet showed the configuration of the egg cell membrane. The present study might lead to new understanding at the molecular level regarding the growth of fertilized eggs and provides a new tool to visualize egg development in a nondestructive manner.
Genus-wide comparison of Pseudovibrio bacterial genomes reveal diverse adaptations to different marine invertebrate hosts

Bacteria belonging to the genus Pseudovibrio have been frequently found in association with a wide variety of marine eukaryotic invertebrate hosts, indicative of their versatile and symbiotic lifestyle. A recent comparison of the sponge-associated Pseudovibrio genomes has shed light on the mechanisms influencing a successful symbiotic association with sponges. In contrast, the genomic architecture of Pseudovibrio bacteria associated with other marine hosts has received less attention. Here, we performed genus-wide comparative analyses of 18 Pseudovibrio isolated from sponges, coral, tunicates, flatworm, and seawater. The analyses revealed a certain degree of commonality among the majority of sponge- and coral-associated bacteria. Isolates from other marine invertebrate host, tunicates, exhibited a genetic repertoire for cold adaptation and specific metabolic abilities including mucin degradation in the Antarctic tunicate-associated bacterium Pseudovibrio sp. Tun. PHSC04_5. I4. Reductive genome evolution was simultaneously detected in the flatworm-associated bacteria and the sponge-associated bacterium P. axinellae AD2, through the loss of major secretion systems (type III/VI) and virulence/symbioses factors such as proteins involved in adhesion and attachment to the host. Our study also unraveled the presence of a CRISPR-Cas system in P. stylochi UST20140214-052 a flatworm-associated bacterium possibly suggesting the role of CRISPR-based adaptive immune system against the invading virus particles. Detection of mobile elements and genomic islands (GIs) in all bacterial members highlighted the role of horizontal gene transfer for the acquisition of novel genetic features, likely enhancing the bacterial ecological fitness. These findings are insightful to understand the role of genome diversity in Pseudovibrio as an evolutionary strategy to increase their colonizing success across a wide range of marine eukaryotic hosts.
Personalisation, austerity and the HR function in the UK voluntary sector

Abstract Using the customer-orientated bureaucracy (COB) construct, this qualitative study investigates changes to the Human Resource (HR) function’s status in eight Scottish voluntary organisations delivering public services at a time of contradictory government calls for greater customer service (personalisation) and cost control (austerity). HR attempts to build and sustain social orders that encourage worker commitment to customer service, leading to business facing and ‘business partner’ strategic roles in areas of recruitment and skills. The study, however, challenges the ability of unitarist ‘business partner’ HR roles to resolve emerging organisational tensions concerning industrial relations, worker concerns over their own security, lack of opportunities to up-skill and service quality. It further questions whether the HR function can be strategic in this and other COB contexts as it can be powerless to resolve workplace tensions because its own status is undermined by budget cuts by government and it faces challenges to its expertise from internal and external actors such as consultants and customers.
Work Motivation And Performance Of Treasurers Of SKPDSorong Regency Indonesia

This study aimed to investigate the effect of leadership, training, and competency on work motivation and performance of treasurers within Satuan Kerja Perangkat Daerah (SKPD; Regional Work Unit) in Sorong Regency. This study used census technique or saturated sampling of which population was about 153 treasures of SKPD in Sorong Regency. The research instrument was questionnaires that the results were generated for data analysis. The analysis results were described in figures, tables, statistical analysis, discussion, and research conclusion. Furthermore, the results indicated that leadership affected work motivation, but did not influence job performance. Then, training gave an impact on work motivation as well as job performance. While competency affected work motivation and performance. Last, work motivation influenced job performance
Framing Bilingual Education Policy: Articulation and Implementation in Texas

Language education policy and its implementation have been controversial and ongoing issues throughout the United States, especially in the border state of Texas, with its large population of students who are learning English. This dissertation reports two studies, the first of which was a frame analysis of problems and solutions as represented by the five bills amending the Texas Education Code with regard to bilingual education and English as a second language programs. These laws, passed in 1969, 1973, 1975, 1981, and 2001, have been enacted since 1968, the year the Bilingual Education Act (BEA) was passed. The problem framed consistently by these state policy documents was inadequate instruction for children who come to school speaking languages other than English. More variability was seen in the framing of solutions, with approaches changing from the authorization of instruction in languages other than English, to the establishment of mandated bilingual programs, to the extension of special language programs, and to the establishment of dual language immersion programs. The primary ideology influencing the policy documents was the monolingual English ideology; however, alternative ideologies are apparent in the policies that allow for dual language immersion programs. Geographic information systems (GIS) analysis was used in the second study to investigate the geographic locations of particular programs and the demographics of students they served. Choropleth maps showed variability in program distribution across the state with distinct patterns apparent in only two programs. The maps indicated that districts with high percentages of student enrollment in one-way dual language programs tended to be located in and near the major metropolitan areas, whereas many districts offering early exit transitional bilingual programs tended to be located along the Texas-Mexico border. Despite the literature on bilingual/ESL program effectiveness, the predominant program in the border region of Texas is among those considered least beneficial to students learning English. This pair of studies illustrates the influence of monolingual English ideology on educational practice and policy through the implementation of programs by districts as well as the framing of bilingual education in legislation.
Resource Defense Polygyny by Hetaerina rosea Selys ( Odonata : Calopterygidae ) : In fl uence of Age and Wing Pigmenta on R GF

Current evidence suggests that in Hetaerina damsel lies males exhibit lek mating system. In this study, in order to answer if the same occurs in Hetaerina rosea Selys, we manipulated vegetation substrates used as territories and quanti ied the number of visiting females, males defending territories and ight intensity. We also examined whether body size and wing pigmentation are selectable traits in male-male competition, and if age affects male territorial behavior. Our results showed that males with larger pigmented areas won more contests, independently of body size. Old males changed from territoriality to sneaking strategy. Contrary to other Hetaerina species, males of H. rosea do not display lek behavior, but defend resources according to the resource defense polygyny strategy.
Truffles on the move

Front Ecol Environ doi:10.1002/fee.2033 © The Ecological Society of America species subject to proposed Appendix I listings, and based on a review of the proposals, 17 do not have in situ management measures in place. Although each situation is context specific, a more appropriate first measure for these species could be the development of conservation programs in partnership with local communities, as opposed to the “blunt instrument” app roach of an international trade ban. While trade prohibitions have proven effective at reducing trade volumes for various species (Conrad 2012; Reino et al. 2017), difficulties in predicting their impacts complicate the application of the precautionary principle in CITES; it cannot be assumed that prohibiting international trade is the precautionary option (Cooney and Jepson 2006). Consequently, we argue that evaluation of CITES listing proposals should involve scenario analyses to explore feasible outcomes, explicitly considering market and socioeconomic factors, and highlighting areas of uncertainty. The use of CITES Appendix I as a conservation tool will be most effective if proposals (1) are informed by knowledge of markets for the species and products concerned and socioeconomic factors associated with harvest and supply as well as biological and trade criteria, and (2) feature an evidencebased theory of change explaining how the listing decision is expected to contribute to improving the status of species. All Appendix I proposals should be given appropriate consideration in CITES meetings, so that Parties are confident that, if adopted, there is a high probability that they will be effective.
Addressing the Racial Divide: The Effect of Police Diversity on Minority Outcomes

In response to publicized shootings of minority civilians, several police agencies across the county have announced that they will hire more minority police officers. However, there is a dearth of quantitative research examining real-life consequences of police diversity. Between 1969 and 2000, a number of police departments were sued for racial and gender discrimination, and many responded by putting into place affirmative action policies. We use affirmative action litigation status of police departments to proxy for increases in workforce diversity, relying on evidence from previous studies with access to confidential demographic information on police workforces. Using litigation information on 479 of the largest state and local U.S. police departments and hospital data from counties across the U.S., we ​estimate the effect of affirmative action litigation on ​various measures of crime and deaths. We introduce a method to measure affirmative action litigation exposure at the county level, as our outcome variables are at the county level while our legal data is at the agency level. Our analysis relies on the assumption that all counties in our sample would have been on the same trend if they had the same exposure to litigated policing. We find that increases in exposure to affirmative action litigation led to a decrease in the probability that there would be a death due to police interaction for all persons, and this effect was driven by deaths among nonwhites. We also find a decrease in arrests after affirmative action litigation for all persons.
Kecemasan Orang Tua Menghadapi Hospitalisasi Anak

Anxiety is a response from an imaginary threat or a real threat, it is happen when someone thinks about something that doesn’t make him happy even though it is not certain yet to happen. The purpose of this study is to describe the anxiety experienced by parents about the length of children’s hospitalization, knowing the attitude that’s raised when anxiety experience and the way that is done to overcome anxiety that is felt while accompanying child hospitalization . Data collecting method in this study is interview. The subject sampling process uses purposive sampling technique with the number of research subject 4 people and domiciled in Sukoharjo Regency. The results of the research shows that the form of anxiety experienced by the subject in accompanying their children’s hospitalization are feeling of fear, guilt, self-blaming, and felling of sadness. The emergence of the anxiety caused by; the children’s hospitalization experiences, the children’s fuss conditions, and unstable health conditions during the hospitalization. The anxiety that arises is influenced by the type of illness suffered by the child, the length of hospitalization that’s being undertaken by the child, and the experience of parents in accompanying child hospitalization. Get closer to God and assistance from others becomes an effective way to overcome anxiety when accompanying child hospitalization.
Restricted With Parameters Which Are Estimated From Measurement Test Theory

© 2016 The Author(s). Open Access terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/) apply. The license permits unrestricted use, distribution, and reproduction in any medium, on the condition that users give exact credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if they made any changes. Introduction
Nucleus Accumbens Microcircuit Underlying D2-MSN-Driven Increase in Motivation

Abstract The nucleus accumbens (NAc) plays a central role in reinforcement and motivation. Around 95% of the NAc neurons are medium spiny neurons (MSNs), divided into those expressing dopamine receptor D1 (D1R) or dopamine receptor D2 (D2R). Optogenetic activation of D2-MSNs increased motivation, whereas inhibition of these neurons produced the opposite effect. Yet, it is still unclear how activation of D2-MSNs affects other local neurons/interneurons or input terminals and how this contributes for motivation enhancement. To answer this question, in this work we combined optogenetic modulation of D2-MSNs with in loco pharmacological delivery of specific neurotransmitter antagonists in rats. First, we showed that optogenetic activation of D2-MSNs increases motivation in a progressive ratio (PR) task. We demonstrated that this behavioral effect relies on cholinergic-dependent modulation of dopaminergic signalling of ventral tegmental area (VTA) terminals, which requires D1R and D2R signalling in the NAc. D2-MSN optogenetic activation decreased ventral pallidum (VP) activity, reducing the inhibitory tone to VTA, leading to increased dopaminergic activity. Importantly, optogenetic activation of D2-MSN terminals in the VP was sufficient to recapitulate the motivation enhancement. In summary, our data suggests that optogenetic stimulation of NAc D2-MSNs indirectly modulates VTA dopaminergic activity, contributing for increased motivation. Moreover, both types of dopamine receptors signalling in the NAc are required in order to produce the positive behavioral effects.
From Foundation degree to Bachelor degree: exploring the identity construction of part-time women students within one vocationally focused higher education institution

This thesis explores the experiences of women who study on a part-time Foundation degree and transition on to part-time Bachelor level study. Using Foucault’s construct of governmentality, it investigates how external and internal forms of power through discourse influence the development of academic and personal identities. Data collection involved a questionnaire given to all internally progressing students followed by two stages of in-depth interviews involving five women. The first interview involved the use of images to support the creation of narratives. The second interview reviewed these narratives and considered transitional experiences. Finally, two focus groups held one year apart offered collective transitional accounts. What emerged were ways in which the women in this study responded to personal and relational forms of power through discourse. Resilience was revealed as a personal form of resistance to power that when linked to motives for study, interdependent learning and the internal progression the women experienced on to the Bachelor degree underpinned the development of strong academic and personal identities. These identities meant the women in this study considered themselves as personally and academically transformed through their experiences of studying on the Foundation degree and their subsequent transition on to Bachelor level study.
An Open Pilot Study of Training Hostile Interpretation Bias to Treat Disruptive Mood Dysregulation Disorder.

OBJECTIVE Irritability in disruptive mood dysregulation disorder (DMDD) may be associated with a biased tendency to judge ambiguous facial expressions as angry. We conducted three experiments to explore this bias as a treatment target. We tested: 1) whether youth with DMDD express this bias; 2) whether judgment of ambiguous faces can be altered in healthy youth by training; and 3) whether such training in youth with DMDD is associated with reduced irritability and associated changes in brain function. METHODS Participants in all experiments made happy versus angry judgments of faces that varied along a happy to angry continuum. These judgments were used to quantify a "balance point," the facial expression at which a participant's judgment switches from predominantly happy to predominantly angry. We first compared balance points in youth with DMDD (n = 63) versus healthy youth (n = 26). We then conducted a double-blind, randomized controlled trial of active versus sham balance-point training in 19 healthy youth. Finally, we piloted open, active balance-point training in 14 youth with DMDD, with 10 completing an implicit functional MRI (fMRI) face-emotion processing task. RESULTS Relative to healthy youth, DMDD youth manifested a shifted balance point, expressed as a tendency to classify ambiguous faces as angry rather than happy. In both healthy and DMDD youth, active training is associated with a shift in balance point toward more happy judgments. In DMDD, evidence suggests that active training may be associated with decreased irritability and changes in activation in the lateral orbitofrontal cortex. CONCLUSIONS These results set the stage for further research on computer-based treatment targeting interpretation bias of angry faces in DMDD. Such treatment may decrease irritability and alter neural responses to subtle expressions of happiness and anger.
Inflation and Output in Germany: The Role of Inflation Expectations

The observation, analysis and forecasting of inflationary trends is of particular interest to all economic agents -not just to institutions with monetary policy tasks. Almost all central banks have specified a price target as the final goal of monetary policy, for example, and some central banks also use inflation forecasts as intermediate targets. For the financial markets, present and future inflationary trends are essential determinants, above all , for interest and exchange rate movements. Price trends and price expectations also play a major role in plans and decisions in the goods markets .