Miracle-dz/UniFAR-FTUs huggingface dataset:
Associations of Eye-Related Quality of Life With Vision, Visuomotor Function, and Self-Perception in Children With Strabismus and Anisometropia

Purpose To evaluate associations between eye-related quality of life (ER-QOL) assessed by the Child Pediatric Eye Questionnaire (Child PedEyeQ) and functional measures (vision, visuomotor function, self-perception) in children with strabismus, anisometropia, or both. Our hypothesis was that children with functional deficits would have lower ER-QOL, and if so, these associations would support the convergent construct validity of the Child PedEyeQ. Methods We evaluated 114 children (ages 5–11 years) with strabismus, anisometropia, or both. Each child completed the Child PedEyeQ to assess four Rasch-scored domains of ER-QOL: Functional Vision, Bothered by Eyes/Vision, Social, and Frustration/Worry. In addition, children completed one or more functional tests: visual acuity (n = 114), Randot Preschool Stereoacuity (n = 92), contrast balance index (suppression; n = 91), Readalyzer reading (n = 44), vergence instability (n = 50), Movement Assessment Battery for Children–2 manual dexterity (n = 57), and Pictorial Scale of Perceived Competence and Social Acceptance for Young Children (n = 44). Results Child PedEyeQ Functional Vision domain scores were correlated with self-perception of physical competence (rs = 0.65; 95% confidence interval [CI], 0.35–0.96) and reading speed (rs = 0.47; 95% CI, 0.16–0.77). Bothered by Eyes/Vision domain scores were correlated with self-perception of physical competence (rs = 0.52; 95% CI, 0.21–0.83). Moderate correlations were observed between Social domain scores and vergence instability (rs = –0.46; 95% CI, –0.76 to –0.15) and self-perception of physical competence (rs = 0.43; 95% CI, 0.12–0.73) and peer acceptance (rs = 0.49; 95% CI, 0.18–0.80). Frustration/Worry domain scores were moderately correlated with self-perception of physical competence (rs = 0.41; 95% CI, 0.10–0.71) and peer acceptance (rs = 0.47; 95% CI, 0.16–0.77). Conclusions Strong and moderate correlations were observed between functional measures and Child PedEyeQ domain scores. These associations provide supporting evidence that the Child PedEyeQ has convergent construct validity.
Shedding Light on Nocturnal Movements in Parkinson’s Disease: Evidence from Wearable Technologies

In Parkinson’s disease (PD), abnormal movements consisting of hypokinetic and hyperkinetic manifestations commonly lead to nocturnal distress and sleep impairment, which significantly impact quality of life. In PD patients, these nocturnal disturbances can reflect disease-related complications (e.g., nocturnal akinesia), primary sleep disorders (e.g., rapid eye movement behaviour disorder), or both, thus requiring different therapeutic approaches. Wearable technologies based on actigraphy and innovative sensors have been proposed as feasible solutions to identify and monitor the various types of abnormal nocturnal movements in PD. This narrative review addresses the topic of abnormal nocturnal movements in PD and discusses how wearable technologies could help identify and assess these disturbances. We first examine the pathophysiology of abnormal nocturnal movements and the main clinical and instrumental tools for the evaluation of these disturbances in PD. We then report and discuss findings from previous studies assessing nocturnal movements in PD using actigraphy and innovative wearable sensors. Finally, we discuss clinical and technical prospects supporting the use of wearable technologies for the evaluation of nocturnal movements.
Molecular Mechanisms of KDELC2 on Glioblastoma Tumorigenesis and Temozolomide Resistance

The activation of the Notch pathway induces glioblastoma (GBM) development. Since KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2) is involved in the Notch pathway, the detailed mechanism is still undetermined. The Cancer Genome Atlas (TCGA) and Chinese Glioma Genome Atlas (CGGA) databases revealed that KDELC2 mRNA was associated with oncologic factors of GBM. U87, LN229, LNZ308, U118MG, and GBM8401 cells showed higher KDELC2 expression than normal brain tissues. The results of MTT, wound healing, and invasion assays proved that KDELC2 knockdown suppressed GBM-aggressive behaviors. The inhibitory properties of GBM stemness and angiogenesis under KDELC2 knockdown were evaluated by tumor spheroid and tube formation assays. Suppression of KDELC2 downregulated Notch factors’ expressions, including KDELC1, pofut1, Notch receptors 1–3, and HES-1. Immunoblot assay showed that KDELC2 knockdown promoted tumor apoptosis by downregulating PI3k/mTOR/Akt, MAPK/ERK, and NF-kB pathways. The combination of KDELC2 knockdown and temozolomide (TMZ) treatment had an optimal therapeutic effect by suppressing MGMT expression. Results of an orthotopic xenograft animal model and human tissue confirmed that KDELC2 correlated with glioma proliferation, advanced grades, and poor prognosis. Therefore, KDELC2 might be a potential pharmacological target to inhibit tumorigenesis, epithelial–mesenchymal transition, angiogenesis, and chemo-resistance of GBM.
Ineffective Subtilisin/Kexin Type 9 (PCSK9) Inhibitors Monotherapy in Dyslipidemia with Low-Density Lipoprotein Cholesterol (LDL-C) Receptor Abnormalities: A Report of 2 Cases

Case series Patients: Male, 44-year-old • Female, 71-year-old Final Diagnosis: Resistance to PCSK9I overcomed by adding statin Symptoms: Dyslipidemia Medication: — Clinical Procedure: — Specialty: Cardiology Objective: Unusual or unexpected effect of treatment Background: Real-life data on the efficacy of monotherapy with PCSK9 inhibitors are scarce. Most cohort studies have examined populations that are not severely dyslipidemic and are receiving combined therapy rather than monotherapy. Case Reports: From a series of 167 alirocumab prescriptions, we present a case of complete nonresponse and one of low response to monotherapy with proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in 2 patients with heterozygous familial hypercholesterolemia and abnormalities of the low-density lipoprotein cholesterol (LDL-C) receptor. In these cases, PCSK9 inhibitors were ineffective when used alone to reduce the LDL-C level, but the addition of statin led to a dramatic improvement. Conclusions: As PCSK9 inhibitors become more commonly prescribed, more cases of nonresponse to PCSK9 inhibitors will be identified. Prospective studies are needed to investigate the efficacy of treatment with the monoclonal antibodies PCSK9 inhibitors in the context of LDL-C receptor abnormalities and to determine whether a genetic explanation exists for interindividual differences in response.
Severe mental illness and health service utilisation for nonpsychiatric medical disorders: A systematic review and meta-analysis

Background Psychiatric comorbidity is known to impact upon use of nonpsychiatric health services. The aim of this systematic review and meta-analysis was to assess the specific impact of severe mental illness (SMI) on the use of inpatient, emergency, and primary care services for nonpsychiatric medical disorders. Methods and findings PubMed, Web of Science, PsychINFO, EMBASE, and The Cochrane Library were searched for relevant studies up to October 2018. An updated search was carried out up to the end of February 2020. Studies were included if they assessed the impact of SMI on nonpsychiatric inpatient, emergency, and primary care service use in adults. Study designs eligible for review included observational cohort and case-control studies and randomised controlled trials. Random-effects meta-analyses of the effect of SMI on inpatient admissions, length of hospital stay, 30-day hospital readmission rates, and emergency department use were performed. This review protocol is registered in PROSPERO (CRD42019119516). Seventy-four studies were eligible for review. All were observational cohort or case-control studies carried out in high-income countries. Sample sizes ranged from 27 to 10,777,210. Study quality was assessed using the Newcastle-Ottawa Scale for observational studies. The majority of studies (n = 45) were deemed to be of good quality. Narrative analysis showed that SMI led to increases in use of inpatient, emergency, and primary care services. Meta-analyses revealed that patients with SMI were more likely to be admitted as nonpsychiatric inpatients (pooled odds ratio [OR] = 1.84, 95% confidence interval [CI] 1.21–2.80, p = 0.005, I2 = 100%), had hospital stays that were increased by 0.59 days (pooled standardised mean difference = 0.59 days, 95% CI 0.36–0.83, p < 0.001, I2 = 100%), were more likely to be readmitted to hospital within 30 days (pooled OR = 1.37, 95% CI 1.28–1.47, p < 0.001, I2 = 83%), and were more likely to attend the emergency department (pooled OR = 1.97, 95% CI 1.41–2.76, p < 0.001, I2 = 99%) compared to patients without SMI. Study limitations include considerable heterogeneity across studies, meaning that results of meta-analyses should be interpreted with caution, and the fact that it was not always possible to determine whether service use outcomes definitively excluded mental health treatment. Conclusions In this study, we found that SMI impacts significantly upon the use of nonpsychiatric health services. Illustrating and quantifying this helps to build a case for and guide the delivery of system-wide integration of mental and physical health services.
Azithromycin in high‐risk, refractory chronic rhinosinusitus after endoscopic sinus surgery and corticosteroid irrigations: a double‐blind, randomized, placebo‐controlled trial

Refractory chronic rhinosinusitis (CRS) remains a significant burden for patients, often leaving them with few therapeutic options that provide low‐morbidity, long‐term, and meaningful symptomatologic and endoscopic disease improvement. Macrolides have long been thought to offer both an immunomodulatory and antimicrobial effect. Our objective was to evaluate the efficacy of low‐dose, long‐term azithromycin in a carefully selected high‐risk population failing appropriate medical therapy of budesonide nasal irrigations (BNIs) and endoscopic sinus surgery (ESS).
Patients’ multifaceted views of dental fear in a diagnostic interview

Abstract Objectives The aim was to examine how patients describe and perceive their dental fear (DF) in diagnostic interviews. Material and Methods The sample consisted of dentally anxious patients according to the Modified Dental Anxiety Scale (MDAS), who had problems coping with conventional dental treatment. The voluntary participants (n = 7, aged 31–62 years) attended a diagnostic interview aiming to map their DF before dental treatment. The data were analysed by theory-driven qualitative content analysis. The themes consisted of the four components of DF: emotional, behavioural, cognitional, and physiological, derived from the Index of Dental Anxiety and Fear. Results Within these four themes, treated as the main categories, 27 additional categories related to the patients’ interpretations of DF were identified in three contexts: before, during and after dental treatment. 10 categories depicted difficult, uncontrollable, or ambivalent emotions; nine depicted behavioural patterns, strategies, or means; five depicted disturbing, strong, or long-lasting physiological reactions, including panic and anxiety symptoms. The remaining three categories related to cognitive components. Conclusions The results indicate that dental care professionals may gain comprehensive information about their patients’ DF by means of four component-based diagnostic interviews. This helps them to better identify and encounter patients in need of fear-sensitive dental care. Trial registration number NCT02919241
Prevalence of autoimmune disease among pregnant women and women of reproductive age in New South Wales, Australia: a population-based study

Abstract Background Autoimmune diseases disproportionately affect women and have been linked to increased risk of maternal and perinatal mortality and morbidity. Our aim was to determine the prevalence of autoimmune disease among pregnant women and women of reproductive age (WRA), which is not well described. Materials and methods A population-based study was conducted using data from a survey of general practitioner (GP) encounters and state-wide hospital admissions in New South Wales (NSW). A list of 29 conditions and relevant diagnosis codes was used to identify autoimmune disease. Prevalence estimates and trends were calculated using population denominators for GP encounters for WRA in 2011–2015 and hospital admissions for WRA and pregnant women in 2013–2017. Results A total 31,065 GP encounters for WRA were identified and 607 (2.0%) reported an autoimmune disease, equivalent to 1.1 GP encounters per 10 WRA each year when extrapolating to NSW population figures. For WRA admitted to hospital, 2.6% had an autoimmune diagnosis recorded each year equivalent to a population prevalence of 0.5%. A total 477,243 births were identified, of which 4230 mothers (0.9%) had at least one autoimmune disease recorded during a 1-year pregnancy lookback period. Autoimmune disease prevalence among both pregnant women and WRA either attending GP or hospital increased, on average, 2–4% per year over the study period. Conclusions A small, but potentially growing proportion of reproductive age and pregnant women have a diagnosed autoimmune disease, and this may impact their health outcomes.
Telemedicine for patients with amyotrophic lateral sclerosis during COVID-19 pandemic: an Italian ALS referral center experience

Abstract We describe the telemedicine experience of an Italian ALS tertiary Center during COVID-19 pandemic. A total of 144 visits were scheduled between 6th March and 6th April 2020. These mostly consisted of neurological or psychological visits (139, 96.5%). One hundred thirty-nine (96.5%) visits were performed as telemedicine and mostly via phone call (112, 80.6%). Three (2.1%) visits were considered as urgent and maintained as outpatient care. Additionally, patients were still able to telephone, being put through directly to their neurologists. Many requests of contact were addressed at getting information about the scheduled visits or examinations (45, 43.3%). Globally, patients and caregivers were satisfied with the telemedicine service. However, the majority (85, 65.9%) would prefer a face-to-face visit. In conclusion, telemedicine could be considered a good complement to face-to-face care, even after social restrictions have been eased.
Natural History of Insomnia Symptoms in the Transition from Childhood to Adolescence: Population Rates, Health Disparities and Risk Factors.

STUDY OBJECTIVES To determine the sociodemographic, behavioral, and clinical risk factors associated with the persistence, remission, and incidence of insomnia symptoms in the transition from childhood to adolescence. METHODS The Penn State Child Cohort is a random, population-based sample of 700 children (5-12 years at baseline), of whom 421 were followed up as adolescents (12-23 years at follow-up). Subjects underwent polysomnography, clinical history, physical exam, and parent- and self-reported scales at baseline and follow-up. Insomnia symptoms were defined as a parent- or self-report of difficulty falling and/or staying asleep. RESULTS The 421 subjects with baseline (Mage=8.8y) and follow-up (Mage=17y) data were 53.9% male and 21.9% racial/ethnic minorities. The persistence of childhood insomnia symptoms was 56% (95%CI=46.5-65.4), with only 30.3% (95%CI=21.5-39.0) fully remitting. The incidence of adolescent insomnia symptoms was 31.1% (95%CI=25.9-36.3). Female sex, racial/ethnic minority and low socioeconomic status as well as psychiatric/behavioral or neurological disorders, obesity, smoking, and evening chronotype were associated with a higher persistence or incidence of insomnia symptoms. CONCLUSIONS Childhood insomnia symptoms are highly persistent, with full remission occurring in only a third of children in the transition to adolescence. Sex-, racial/ethnic- and socioeconomic-related disparities in insomnia occur as early as childhood, while different mental/physical health and lifestyle/circadian risk factors play a key role in the chronicity of childhood insomnia symptoms vs. their incidence in adolescence. Childhood insomnia symptoms should not be expected to developmentally remit and should become a focus of integrated pediatric/behavioral health strategies.
Hypertension awareness, treatment and control among ethnic minority populations in Europe: a systematic review and meta-analysis

Supplemental Digital Content is available in the text Objective: Ethnic minority populations (EMPs) are disproportionally affected by hypertension-mediated complications compared with European host populations (EHPs), which might be due to disparities in hypertension awareness, treatment and control. We conducted a systematic review and meta-analysis to compare awareness, treatment and control rates among EMPs with EHPs. Methods: MEDLINE, EMBASE and Web of Science were searched from inception to 29 January 2020. Critical appraisal was performed according to methods of Hoy et al. Pooled odds ratios with corresponding 95% confidence intervals were calculated for these rates, stratified by ethnic group, using either random or fixed effect meta-analysis based on I2-statistics. Study was registered in PROSPRO (CRD42020107897). Results: A total of 3532 records were screened of which 16 were included in the analysis with data on 26 800 EMP and 57 000 EHP individuals. Compared with EHPs, African origin populations were more likely to be aware (odds ratio 1.26, 95% confidence interval 1.02–1.56) and treated (1.49, 1.18–1.88) for hypertension, but were less likely to have their blood pressure controlled (0.56, 0.40–0.78), whereas South Asian populations were more likely to be aware (1.15, 1.02–1.30), but had similar treatment and control rates. In Moroccan populations, hypertension awareness (0.79, 0.62–1.00) and treatment levels (0.77, 0.60–0.97) were lower compared with EHPs, while in Turkish populations awareness was lower (0.81, 0.65–1.00). Conclusion: Levels of hypertension awareness, treatment and control differ between EMPs and EHPs. Effort should be made to improve these suboptimal rates in EMPs, aiming to reduce ethnic inequalities in hypertension-mediated complications.
Efficient CRISPR/Cas9-Mediated Knockout of an Endogenous PHYTOENE DESATURASE Gene in T1 Progeny of Apomictic Hieracium Enables New Strategies for Apomixis Gene Identification

Most Hieracium subgenus Pilosella species are self-incompatible. Some undergo facultative apomixis where most seeds form asexually with a maternal genotype. Most embryo sacs develop by mitosis, without meiosis and seeds form without fertilization. Apomixis is controlled by dominant loci where recombination is suppressed. Loci deletion by γ-irradiation results in reversion to sexual reproduction. Targeted mutagenesis of genes at identified loci would facilitate causal gene identification. In this study, the efficacy of CRISPR/Cas9 editing was examined in apomictic Hieracium by targeting mutations in the endogenous PHYTOENE DESATURASE (PDS) gene using Agrobacterium-mediated leaf disk transformation. In three experiments, the expected albino dwarf-lethal phenotype, characteristic of PDS knockout, was evident in 11% of T0 plants, 31.4% were sectorial albino chimeras, and the remainder were green. The chimeric plants flowered. Germinated T1 seeds derived from apomictic reproduction in two chimeric plants were phenotyped and sequenced to identify PDS gene edits. Up to 86% of seeds produced albino seedlings with complete PDS knockout. This was attributed to continuing Cas9-mediated editing in chimeric plants during apomictic seed formation preventing Cas9 segregation from the PDS target. This successful demonstration of efficient CRISPR/Cas9 gene editing in apomictic Hieracium, enabled development of the discussed strategies for future identification of causal apomixis genes.
Parallel Processing of Facial Expression and Head Orientation in the Macaque Brain

When we move the features of our face, or turn our head, we communicate changes in our internal state to the people around us. How this information is encoded and used by an observer's brain is poorly understood. We investigated this issue using a functional MRI adaptation paradigm in awake male macaques. Among face-selective patches of the superior temporal sulcus (STS), we found a double dissociation of areas processing facial expression and those processing head orientation. When we move the features of our face, or turn our head, we communicate changes in our internal state to the people around us. How this information is encoded and used by an observer's brain is poorly understood. We investigated this issue using a functional MRI adaptation paradigm in awake male macaques. Among face-selective patches of the superior temporal sulcus (STS), we found a double dissociation of areas processing facial expression and those processing head orientation. The face-selective patches in the STS fundus were most sensitive to facial expression, as was the amygdala, whereas those on the lower, lateral edge of the sulcus were most sensitive to head orientation. The results of this study reveal a new dimension of functional organization, with face-selective patches segregating within the STS. The findings thus force a rethinking of the role of the face-processing system in representing subject-directed actions and supporting social cognition. SIGNIFICANCE STATEMENT When we are interacting with another person, we make inferences about their emotional state based on visual signals. For example, when a person's facial expression changes, we are given information about their feelings. While primates are thought to have specialized cortical mechanisms for analyzing the identity of faces, less is known about how these mechanisms unpack transient signals, like expression, that can change from one moment to the next. Here, using an fMRI adaptation paradigm, we demonstrate that while the identity of a face is held constant, there are separate mechanisms in the macaque brain for processing transient changes in the face's expression and orientation. These findings shed new light on the function of the face-processing system during social exchanges.
Potential exoskeleton uses for reducing low back muscular activity during farm tasks.

BACKGROUND As the sustainability of the agricultural workforce has been threatened by the high prevalence of back pain, developing effective interventions to reduce its burden within farming will contribute to the long-term health and productivity of workers. Passive back-support exoskeletons are being explored as an intervention to reduce the physical demands on the back muscles, and consequently mitigate the risk of back pain, in many industrial sectors. METHODS This study investigated whether exoskeleton use could reduce farmers' low back muscle load. Electromyography was used to evaluate exoskeleton use in field and laboratory settings. A total of 14 farmers (13 males and 1 female) with a mean age of 49 (SD = 12) years and 6 female nonfarmers (mean age 28, SD = 5 years) performed a standardized set of tasks that included symmetric and asymmetric lifting and sustained trunk flexion. Following the standardized tasks, 14 farmers also performed regular, real-world, farm tasks with and without use of the exoskeleton at their farms. RESULTS Exoskeleton use decreased back muscular load during farming activities up to 65%, 56%, and 48% in static, median, and peak muscle activity, respectively. This indicates potential benefits of exoskeleton use to help farmers work under less muscular load. Paradoxically, exoskeleton use during standardized tasks increased muscle activity for some participants. CONCLUSIONS This study demonstrates the potential effects of using passive exoskeletons in agriculture through observational and experimental research, and is among the first that explores the potential for using exoskeletons during actual work tasks in farm settings.