Miracle-dz/UniFAR-FTUs huggingface dataset:
The influence of sleep on language production modalities in preschool children with Down syndrome

Evidence suggests that sleep may relate to oral language production in children with Down syndrome. However, these children are capable of using complex referential gestures as a compensation strategy for problems with oral production, and those with a greater productive oral vocabulary have less gestural vocabulary. The goal of this study was to explore whether sleep quality relates to oral and gestural production modalities in children with Down syndrome. We evaluated 36 preschool children with and without Down syndrome, paired by chronological age and gender, with similar sociodemographic backgrounds, using actigraphy to measure sleep behaviour and the Communicative Development Inventory for Down syndrome to measure vocabulary. Children with Down syndrome with better sleep efficiency showed more oral production but less gestural production. These results highlight the importance of sleep quality to language learning in children with Down syndrome.
Rehabilitation interventions after traumatic brain injury: a scoping review

Abstract Purpose To (1) identify interventional research topics in traumatic brain injury (TBI) rehabilitation, (2) describe potential knowledge gaps, and (3) uncover further needs for interventional TBI rehabilitation research for patients and families. Method We searched three databases (2006–2019) and screened 1552 non-duplicate articles. Titles and abstracts were screened for relevance, yielding 754 articles for full-text review. Of these, 425 were included, as relevant to the purpose of the scoping review. Findings Among articles on TBI rehabilitation, the majority (71.8%) applied quantitative methodology; of these only 19.7% were randomized controlled trials. Severe TBI was described more often than mild/moderate TBI populations. Hospital vs community/home rehabilitation was 55.1% vs 37.2%; rehabilitation at workplace/school was described in only 4.5% articles, while in 7.2% the setting was undisclosed. Of 83 articles describing work/education, only 14 were in a work/school context. An additional focus in the work/education articles was activities of daily living (n = 28), cognition (n = 33) and emotions (n = 23), few targeted family or network. Conclusion The main attention of interventional TBI rehabilitation studies has been on severe TBI and long-term rehabilitation. Gaps identified were rehabilitation of mild/moderate TBI populations, older populations, acute/sub-phase rehabilitation, return to work issues and studies including the family. Implications for rehabilitation A substantial number of interventional studies exist to guide long-term rehabilitation after traumatic brain injury with focus on daily life, physical, emotional and cognitive functioning. We recommend a stronger focus in the clinic on the following groups; people with mild/moderate traumatic brain injury, people in the acute and sub-acute phase, and older people with traumatic brain injury. Issues that target challenges returning to work should be addressed, while they are of importance to patients and families. Emphasis should be put on continuity of care and peer-support.
Prison Strains, Negative Emotions, and Deviance Among Prisoners in South Korea: A Latent-Variable Modeling Test of General Strain Theory

This article examines the applicability of general strain theory to correctional samples by testing whether prison strains are positively related to deviance among prisoners through strain-associated negative emotions and whether the negative emotions-deviance relationship is systematic in terms of inner versus outer directedness. Latent-variable structural equation modeling was applied to analyze survey data from 986 male prisoners in South Korea. First, an inmate’s dissatisfaction with correctional officers was found to be positively related to anger and fear of victimization, whereas in-prison victimization was related only to the fear. Second, outer-directed emotion (anger) was positively related to outer-directed deviance (aggressive and property misconduct and anticipated reoffending) but not to inner-directed deviance (self-injury/suicide attempt). On the contrary, inner-directed emotion (fear) was related positively to the inner-directed deviance but inversely to property misconduct. Finally, some of the indirect relationships of victimization and dissatisfaction with deviance via negative emotions were found to be significant.
Understanding implementation success: protocol for an in-depth, mixed-methods process evaluation of a cluster randomised controlled trial testing methods to improve detection of Lynch syndrome in Australian hospitals

Introduction In multisite intervention trials, implementation success often varies widely across settings. Process evaluations are crucial to interpreting trial outcomes and understanding contextual factors and causal chains necessary for successful implementation. Lynch syndrome is a hereditary cancer predisposition conferring an increased risk of colorectal, endometrial and other cancer types. Despite systematic screening protocols to identify Lynch syndrome, the condition remains largely underdiagnosed. The Hide and Seek Project (‘HaSP’) is a cluster randomised controlled trial determining the effectiveness of two approaches to improving Lynch syndrome detection at eight Australian hospital networks. To enhance widespread implementation of optimal Lynch syndrome identification, there is a need to understand not only what works, but also why, in what contexts, and at what costs. Here we describe an in-depth investigation of factors influencing successful implementation of procedures evaluated in the HaSP trial. Methods and analysis A mixed-methods, theory-driven process evaluation will be undertaken in parallel to the HaSP trial. Data will include: interviews of Implementation Leads and Lynch syndrome stakeholders, pre–post implementation questionnaires, audio analysis of meetings and focus groups, observation of multidisciplinary team meetings, fidelity checklists and project log analysis. Results will be triangulated and coded, drawing on the Theoretical Domains Framework, Consolidated Framework for Implementation Research and Proctor’s implementation outcomes. Ethics and dissemination Use of a theory-based process evaluation will enhance interpretation and generalisability of HaSP trial findings, and contribute to the implementation research field by furthering understanding of the conditions necessary for implementation success. Ethical approval has been granted and results will be disseminated via publications in peer-reviewed journals and conference presentations. At trial completion, key findings will be fed back to sites to enable refinement of intervention strategies, both in the context of Lynch syndrome and for the possible generalisability of intervention components in other genetic and broader clinical specialties. HaSP trial registration number Australian New Zealand Clinical Trials Registry (Identifier: ACTRN12618001072202). Registered 27 June 2018. http://www.ANZCTR. org.au/ACTRN12618001072202.aspx.
Using Natural Language Processing and Sentiment Analysis to Augment Traditional User-Centered Design: Development and Usability Study

Background Sarcopenia, defined as the age-associated loss of muscle mass and strength, can be effectively mitigated through resistance-based physical activity. With compliance at approximately 40% for home-based exercise prescriptions, implementing a remote sensing system would help patients and clinicians to better understand treatment progress and increase compliance. The inclusion of end users in the development of mobile apps for remote-sensing systems can ensure that they are both user friendly and facilitate compliance. With advancements in natural language processing (NLP), there is potential for these methods to be used with data collected through the user-centered design process. Objective This study aims to develop a mobile app for a novel device through a user-centered design process with both older adults and clinicians while exploring whether data collected through this process can be used in NLP and sentiment analysis Methods Through a user-centered design process, we conducted semistructured interviews during the development of a geriatric-friendly Bluetooth-connected resistance exercise band app. We interviewed patients and clinicians at weeks 0, 5, and 10 of the app development. Each semistructured interview consisted of heuristic evaluations, cognitive walkthroughs, and observations. We used the Bing sentiment library for a sentiment analysis of interview transcripts and then applied NLP-based latent Dirichlet allocation (LDA) topic modeling to identify differences and similarities in patient and clinician participant interviews. Sentiment was defined as the sum of positive and negative words (each word with a +1 or −1 value). To assess utility, we used quantitative assessment questionnaires—System Usability Scale (SUS) and Usefulness, Satisfaction, and Ease of use (USE). Finally, we used multivariate linear models—adjusting for age, sex, subject group (clinician vs patient), and development—to explore the association between sentiment analysis and SUS and USE outcomes. Results The mean age of the 22 participants was 68 (SD 14) years, and 17 (77%) were female. The overall mean SUS and USE scores were 66.4 (SD 13.6) and 41.3 (SD 15.2), respectively. Both patients and clinicians provided valuable insights into the needs of older adults when designing and building an app. The mean positive-negative sentiment per sentence was 0.19 (SD 0.21) and 0.47 (SD 0.21) for patient and clinician interviews, respectively. We found a positive association with positive sentiment in an interview and SUS score (ß=1.38; 95% CI 0.37 to 2.39; P=.01). There was no significant association between sentiment and the USE score. The LDA analysis found no overlap between patients and clinicians in the 8 identified topics. Conclusions Involving patients and clinicians allowed us to design and build an app that is user friendly for older adults while supporting compliance. This is the first analysis using NLP and usability questionnaires in the quantification of user-centered design of technology for older adults.
Hepatitis C virus exploits cyclophilin A to evade PKR

Counteracting innate immunity is essential for successful viral replication. Host cyclophilins (Cyps) have been implicated in viral evasion of host antiviral responses, although the mechanisms are still unclear. Here, we show that hepatitis C virus (HCV) co-opts the host protein CypA to aid evasion of antiviral responses dependent on the effector protein kinase R (PKR). Pharmacological inhibition of CypA rescues PKR from antagonism by HCV NS5A, leading to activation of an interferon regulatory factor-1 (IRF1)-driven cell intrinsic antiviral program that inhibits viral replication. These findings further the understanding of the complexity of Cyp-virus interactions, provide mechanistic insight into the remarkably broad antiviral spectrum of Cyp inhibitors, and uncover novel aspects of PKR activity and regulation. Collectively, our study identifies a novel antiviral mechanism that harnesses cellular antiviral immunity to suppress viral replication.
The AAA+ ATPase Msp1 is a processive protein translocase with robust unfoldase activity

Significance The AAA+ ATPase Msp1 has previously been shown to function in the quality control of tail-anchored proteins at the mitochondrial and peroxisomal membranes, yet its detailed mechanisms of substrate processing have remained unknown. Using scaffolds to stabilize the functional hexamer of Msp1 ATPase domains and various model proteins derived from Msp1’s endogenous substrate Pex15, we show that Msp1 is a promiscuous protein translocase that mechanically unfolds and pulls its substrates through the central pore of the ATPase hexamer in an N-to-C or C-to-N terminal direction. The peroxisomal protein Pex3 modulates Msp1’s activity at the peroxisome by directly interacting with the AAA+ hexamer and inhibiting substrate threading. Msp1 is a conserved eukaryotic AAA+ ATPase localized to the outer mitochondrial membrane, where it is thought to extract mislocalized tail-anchored proteins. Despite recent in vivo and in vitro studies supporting this function, a mechanistic understanding of how Msp1 extracts its substrates is still lacking. Msp1’s ATPase activity depends on its hexameric state, and previous characterizations of the cytosolic AAA+ domain in vitro had proved challenging due to its monomeric nature in the absence of the transmembrane domain. Here, we used a hexamerization scaffold to study the substrate-processing mechanism of the soluble Msp1 motor, the functional homo-hexameric state of which was confirmed by negative-stain electron microscopy. We demonstrate that Msp1 is a robust bidirectional protein translocase that is able to unfold diverse substrates by processive threading through its central pore. This unfoldase activity is inhibited by Pex3, a membrane protein proposed to regulate Msp1 at the peroxisome.
The impact of the COVID-19 pandemic on suicide rates

Abstract Multiple lines of evidence indicate that the COVID-19 pandemic has profound psychological and social effects. The psychological sequelae of the pandemic will probably persist for months and years to come. Studies indicate that the COVID-19 pandemic is associated with distress, anxiety, fear of contagion, depression, and insomnia in the general population and among health care professionals. Social isolation, anxiety, fear of contagion, uncertainty, chronic stress, and economic difficulties may lead to the development or exacerbation of depressive, anxiety, substance use, and other psychiatric disorders in vulnerable populations including individuals with pre-existing psychiatric disorders and people who reside in high COVID-19 prevalence areas. Stress-related psychiatric conditions including mood and substance use disorders are associated with suicidal behavior. COVID-19 survivors may also be at elevated suicide risk. The COVID-19 crisis may increase suicide rates during and after the pandemic. Mental health consequences of the COVID-19 crisis including suicidal behavior are likely to be present for a long time and peak later than the actual pandemic. To reduce suicides during the COVID-19 crisis it is imperative to decrease stress, anxiety, fears and loneliness in the general population. There should be traditional and social media campaigns to promote mental health and reduce distress. Active outreach is necessary, especially for people with a history of psychiatric disorders, COVID-19 survivors, and older adults. Research studies are needed of how mental health consequences can be mitigated during and after the COVID-19 pandemic.
Identification of G protein‐coupled receptors required for vitellogenesis and egg development in an insect with panoistic ovary

G protein‐coupled receptors (GPCRs), a superfamily of integral transmembrane proteins regulate a variety of physiological processes in insects. Juvenile hormone (JH) is known to stimulate Vitellogenin (Vg) synthesis in the fat body, secretion into the hemolymph and uptake by developing oocytes. However, the role of GPCRs in JH‐dependent insect vitellogenesis and oocyte maturation remains elusive. In the present study, we performed transcriptomic analysis and RNA interference (RNAi) screening in vitellogenic females of the migratory locust Locusta migratoria. Of 22 GPCRs identified in ovarian transcriptome, LGR4, OR‐A1, OR‐A2, Mthl1, Mthl5 and Smo were most abundant in the ovary. By comparison, mAChR‐C expressed at higher levels in the fat body, whereas Oct/TyrR, OARβ, AdoR and ADGRA3 were at higher expression levels in the brain. Our RNAi screening demonstrated that knockdown of six GPCRs resulted in defective phenotypes of Vg accumulation in developing oocytes, accompanied by blocked ovarian development and impaired oocyte maturation. While LGR4 and Oct/TyrR appeared to control Vg synthesis in the fat body, OR‐A1, OR‐A2, mAChR‐C and CirlL regulated Vg transportation and uptake. The findings provide fundamental evidence for deciphering the regulatory mechanisms of GPCRs in JH‐stimulated insect reproduction.
Lee Silverman Voice Treatment for dysarthria in patients with Parkinson’s disease: a systematic review and meta‐analysis

Approximately 89% of patients with Parkinson’s disease (PD) suffer from dysarthria. Lee Silverman Voice Treatment (LSVT), a behavioral therapy, aims to improve speech and voice functions. The objective was to assess the effectiveness of LSVT compared with other/no speech interventions for dysarthria in patients with PD. Electronic databases, including PubMed, Embase and the Cochrane Library, were searched. The publication date of all included studies was before 6 March 2020. Only randomized controlled trials (RCTs) that evaluated the LSVT intervention compared with other/no speech intervention were considered. The data obtained from the included studies were described and the mean differences were calculated. Eight RCTs were included in this meta‐analysis comparing LSVT with other/no speech interventions. In the comparison of LSVT versus no intervention, vocal intensity for sustained ‘Ah’ phonation, reading the ‘Rainbow passage’, monologue and describing a picture increased by 8.87, 4.34, 3.25 and 3.31 dB, respectively, after 1 month of therapy. Compared with the respiratory therapy group, the LSVT group also showed significant improvement in vocal intensity for sustained ‘Ah’ phonation, reading the ‘Rainbow passage’ and monologue immediately after treatment (13.39, 6.66 and 3.19 dB). Positive improvement still existed after 24 months. There was no difference in the therapeutic effect between face‐to‐face and online LSVT. The effectiveness of LSVT for dysarthria in patients with PD was verified in these trials. However, future RCTs with sufficient participants are essential to evaluate the effectiveness of LSVT for dysarthria.
Intense proliferation of rDNA sites and heterochromatic bands in two distantly related Cuscuta species (Convolvulaceae) with very large genomes and symmetric karyotypes

Abstract The genome size varies widely among angiosperms but only a few clades present huge variation at a low phylogenetic level. Among diploid species of the genus Cuscuta the genome size increased enormously in at least two independent lineages: in species of subgenus Monogynella and in at least one species (C. indecora) of the subgenus Grammica. Curiously, the independent events lead to similar karyotypes, with 2n = 30 mostly metacentric chromosomes. In this paper we compared the patterns of heterochromatic bands and rDNA sites of C. indecora and C. monogyna, aiming to evaluate the role of these repetitive fractions in these karyotypes. We found out that the large genomes of these species were incremented by a huge number of small heterochromatic CMA+ and DAPI+ bands and 5S and 35 rDNA sites, most of them clearly colocalized with CMA+ bands. Silver nitrate impregnation revealed that the maximum number of nucleoli per nucleus was low in both species, suggesting that some of these sites may be inactive. Noteworthy, the tandem repeats did not generate large bands or sites but rather dozens of small blocks dispersed throughout the chromosomes, apparently contributing to conserve the original karyotype symmetry.
Subcortical Brain Volume, Regional Cortical Thickness, and Cortical Surface Area Across Disorders: Findings From the ENIGMA ADHD, ASD, and OCD Working Groups.

OBJECTIVE Attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive disorder (OCD) are common neurodevelopmental disorders that frequently co-occur. The authors sought to directly compare these disorders using structural brain imaging data from ENIGMA consortium data. METHODS Structural T1-weighted whole-brain MRI data from healthy control subjects (N=5,827) and from patients with ADHD (N=2,271), ASD (N=1,777), and OCD (N=2,323) from 151 cohorts worldwide were analyzed using standardized processing protocols. The authors examined subcortical volume, cortical thickness, and cortical surface area differences within a mega-analytical framework, pooling measures extracted from each cohort. Analyses were performed separately for children, adolescents, and adults, using linear mixed-effects models adjusting for age, sex, and site (and intracranial volume for subcortical and surface area measures). RESULTS No shared differences were found among all three disorders, and shared differences between any two disorders did not survive correction for multiple comparisons. Children with ADHD compared with those with OCD had smaller hippocampal volumes, possibly influenced by IQ. Children and adolescents with ADHD also had smaller intracranial volume than control subjects and those with OCD or ASD. Adults with ASD showed thicker frontal cortices compared with adult control subjects and other clinical groups. No OCD-specific differences were observed across different age groups and surface area differences among all disorders in childhood and adulthood. CONCLUSIONS The study findings suggest robust but subtle differences across different age groups among ADHD, ASD, and OCD. ADHD-specific intracranial volume and hippocampal differences in children and adolescents, and ASD-specific cortical thickness differences in the frontal cortex in adults, support previous work emphasizing structural brain differences in these disorders.
Evaluation of Cystic Endometrial Hyperplasia and the Normal Estrous Cycle in Longitudinal Sections of Uterus from Female Harlan Sprague-Dawley Rats

The National Toxicology Program (NTP) has recently introduced the practice of examining longitudinal histological sections of the female rodent uterus to improve the identification of non-neoplastic lesions, preneoplastic lesions, and uterine tumors. This practice has created a need for reference material that includes normal histology, spontaneous lesions, and inducible lesions in longitudinal as well as transverse sections of the body of the uterus, uterine horns, cervix and vagina. Using 3 archived NTP reproductive and developmental toxicity studies, the authors reviewed longitudinal and transverse sections of uteri from female Hsd:Sprague Dawley SD® (Hsd:SD) rats for cystic endometrial hyperplasia (CEH). The purposes of this review were to (1) evaluate if existing criteria for CEH in transverse uterine sections could be applied to longitudinal sections to develop diagnostic features of CEH in longitudinal uterine sections of rat uterus and (2) create an atlas of the normal estrous cycle phases in longitudinal sections of young and mature adult Hsd:SD rat uteri. The information provided in this original article should help facilitate the examination of longitudinal sections of the uterus in future commercial and governmental rodent studies.