Miracle-dz/UniFAR-FTUs huggingface dataset:
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study were to establish the variant profile in a large cohort of adRP families and to elucidate the variant spectrum of each adRP gene in Chinese patients. A total of 138 probands clinically diagnosed with RP as a presumed autosomal dominant trait were recruited. All probands underwent ophthalmic examinations by specialists. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger DNA sequencing, and multiplex ligation probe amplification assay, was used to detect variants. We identified heterozygous variants of 11 adRP genes in 73 probands, hemizygous, or heterozygous variants of X-linked RP genes in six patients, compound heterozygous variants of autosomal recessive RP genes in three pseudodominant families, and one heterozygous variant of one ad cone and rod dystrophy gene in one proband. One proband was found carrying both variants in RPGR and FAM161A. The overall detection rate was 59.4% (82/138). We detected 72 distinct disease-causing variants involving 16 RP genes and one cone-rod dystrophy gene; 33 of these variants have not been reported previously. Disease-causing variants were identified in the adRP genes in 52.9% of the families, followed by 4.3% in the X-linked RP genes, and 2.2% in the autosomal recessive genes. The most frequent mutant genes were RHO, PRPF31, RP1, SNRNP200, and PRPF8, which explained up to 78.0% of the genetically diagnosed families. Most of the variants identified in adRP genes were missense, and copy number variations were common (7/20) in the PRPF31 gene. We established the profile of the mutated genes and the variant spectrum of adRP genes in a large cohort of Chinese patients, providing essential information for genetic counseling and future development of therapeutics for retinal dystrophy inherited as a dominant trait.
On the Relationship of Interoceptive Accuracy and Attention: A Controlled Study With Depressed Inpatients and a Healthy Cohort

Objective Previous research has shown reduced interoceptive accuracy (IAcc) in depression. Attention deficit represents a key symptom of depression. Moreover, IAcc is positively correlated with attention. There is no study that investigates the effect of depression on IAcc and attention. The aim of this study is to examine the mediating effect of IAcc on depression and attention. Methods Thirty-six depressed patients from the Psychosomatic Clinic in Windach were matched with 36 healthy controls according to age and sex and were assessed at Ulm University. All participants completed the Beck Depression Inventory-II, the heartbeat perception task to examine IAcc, and the d2 test assessing selective attention. Results Depressed patients showed attention deficits—both for general visual attention and IAcc—compared to healthy controls. The mediation analyses revealed that the relationship between depression and attention is not mediated via IAcc. Furthermore, depression predicts IAcc and attention, but these effects are direct and largely unaffected by the respective other variable. Discussion The results of the present study highlight both interoceptive as well as attention deficits in depressed patients. No clear mediation between these variables could be shown in this study. More elaborative research is needed to clarify whether different approaches to improve IAcc are effective for these deficits in depressed patients and could therefore be of importance as an additional aspect of therapy in depression.
Physicochemical properties and stability of two differently prepared amorphous forms of simvastatin

The purpose of this work was to investigate possible differences in physicochemical properties and stability between amorphous forms of simvastatin prepared by (a) cryo-milling and (b) melting and quench-cooling. Both methods resulted in X-ray amorphous forms and HPLC analysis indicated a small percentage of chemical degradation during the preparation processes. Modulated differential scanning calorimetry (MTDSC) results showed significantly different onset temperatures of recrystallization and recrystallization enthalpies for both amorphous forms. Raman spectra of the amorphous forms showed differences in the intensities of the methylene bands for the cryo-milled and quench-cooled forms. Upon storage at 20 °C, the cryo-milled samples recrystallized within one day, whereas the quench-cooled samples showed no signs of recrystallization, even when stored at 40 °C for 3 days. Principal component analysis was carried out to further analyze any differences in the Raman spectra. The results indicate the existen.
Serum Cortisol and Clinical Response to a Single Session of Whole-Body Vibration in Healthy Adult Dogs

This study evaluated the serum cortisol response to a single session of whole-body vibration (WBV) in healthy adult dogs. Ten healthy adult medium dogs, females and males, aged between 24 and 48 months and with body weight between 10.1 and 17.9 kg were used. A single WBV session at a frequency of 30 Hz for 5 min (3.10 mm peak displacement, 11.16 m/s2 peak acceleration, and 0.29 m/s velocity), then 50 Hz for 5 min (3.98 mm peak displacement, 39.75 m/s2 peak acceleration, and 0.62 m/s velocity), and finishing with 30 Hz for 5 min (3.10 mm peak displacement, 11.16 m/s2 peak acceleration, and 0.29 m/s velocity) was performed. Serum cortisol, heart and respiratory rate, and systolic blood pressure were evaluated at different time points: 1 min before WBV (1PRE) and 1 min (1POST), 60 min (60POST), and 360 min (360POST) after the WBV session. An increase (P = 0.0417) of the serum cortisol values was observed between 1PRE and 1POST and a decrease (P = 0.0417) between 1POST and 60POST and between 60POST and 360POST. However, the values remained within the reference range. The heart and respiratory rate and the systolic blood pressure remained unchanged. Our findings suggest that a single bout of WBV (5 min of 30 and 50 Hz) using a vibrating platform that delivered a vortex wave circulation does not modify the serum cortisol levels and clinical parameters of healthy adult dogs.
Virtual Rehabilitation of the Paretic Hand and Arm in Persons With Stroke: Translation From Laboratory to Rehabilitation Centers and the Patient's Home

The anatomical and physiological heterogeneity of strokes and persons with stroke, along with the complexity of normal upper extremity movement make the possibility that any single treatment approach will become the definitive solution for all persons with upper extremity hemiparesis due to stroke unlikely. This situation and the non-inferiority level outcomes identified by many studies of virtual rehabilitation are considered by some to indicate that it is time to consider other treatment modalities. Our group, among others, has endeavored to build on the initial positive outcomes in studies of virtual rehabilitation by identifying patient populations, treatment settings and training schedules that will best leverage virtual rehabilitation's strengths. We feel that data generated by our lab and others suggest that (1) persons with stroke may adapt to virtual rehabilitation of hand function differently based on their level of impairment and stage of recovery and (2) that less expensive, more accessible home based equipment seems to be an effective alternative to clinic based treatment that justifies continued optimism and study.
Canopy Leaf Traits, Basal Area, and Age Predict Functional Patterns of Regenerating Communities in Secondary Subtropical Forests

Secondary forests originate from natural regeneration after fallow (succession) or restoration. Species assembly in these communities, which can affect ecosystem functions and successional trajectories, is very unpredictable. Trait-based trajectories can shed light on the recovery of ecosystem functions and enable predictions of how the regenerating communities will change with forest age. Regeneration communities are affected by initial conditions and also by canopy structure and functional traits that alter dispersers' attractiveness and coexistence mechanisms. Here we evaluated how community functional traits change over time and tested if functional diversity and composition of the established canopy, as well as the structure of the canopy and forest age, influence the functional structure of regenerating tree communities when compared to their reference forests. For this, we calculated dissimilarity in trait composition (community-weighted means) and in functional diversity of regenerating communities of each succession/restoration stand, using the tree stratum of nearby mature forests as baseline values. Functional trait information comprises leaf, wood density, and reproductive traits from tree species. Our community data contain information from natural successional forests and restoration sites, in the South-Brazilian Atlantic Forest. Predictor variables of functional dissimilarities were forest age, canopy structural variables, canopy functional composition, and functional diversity. Results showed leaf traits (leaf dry matter content, leaf nitrogen content, leaf nitrogen-phosphorus ratio) and seed mass varying with forest age. Canopy functional composition based on leaf traits and total basal area significantly predicted multiple trait functional dissimilarity between the regeneration component of secondary forests and their reference community values. Dissimilarity increased when the canopy was composed of species with more acquisitive traits. Difference in functional diversity was only influenced by forest age. Mid-stage secondary forests showed lower functional diversity than early-stage forests. Our results indicated the importance of canopy traits on the natural regeneration of secondary subtropical forests. If functional similarity with reference forests is a desired objective in order to recover ecosystem functions through natural regeneration, leaf functional traits of canopy trees that establish or are planted in degraded areas must be considered in the successional processes.
Root Nodule Rhizobia From Undomesticated Shrubs of the Dry Woodlands of Southern Africa Can Nodulate Angolan Teak Pterocarpus angolensis, an Important Source of Timber

Pterocarpus angolensis, a leguminous tree native to the dry woodlands of Southern Africa, provides valuable timber, but is threatened by land conversion and overharvesting while showing limited natural regeneration. Nitrogen-fixing root nodule symbionts that could improve establishment of young seedlings have not yet been described. Therefore, we investigated the ability of P. angolensis to form nodules with a diverse range of rhizobia. In drought-prone areas under climate change with higher temperatures, inoculants that are heat-tolerant and adapted to these conditions are likely to be of advantage. Sources of bacterial isolates were roots of P. angolensis from nurseries in the Kavango region, other shrubs from this area growing near Pterocarpus such as Indigofera rautanenii, Desmodium barbatum, Chamaecrista sp. , or shrubs from drought-prone areas in Namaqualand (Wiborgia monoptera, Leobordea digitata) or Kalahari (Indigofera alternans). Only slight protrusions were observed on P. angolensis roots, from which a non-nodulating Microbacterium sp. was isolated. Rhizobia that were isolated from nodules of other shrubs were affiliated to Bradyrhizobium ripae WR4T, Bradyrhizobium spp. (WR23/WR74/WR93/WR96), or Ensifer/Mesorhizobium (WR41/WR52). As many plant growth-promoting rhizobacteria (PGPR), nodule isolates produced siderophores and solubilized phosphate. Among them, only the Bradyrhizobium strains nodulated P. angolensis under controlled conditions in the laboratory. Isolates were further characterized by multilocus sequence analysis and were found to be distant from known Bradyrhizobium species. Among additional reference species tested for nodulation on P. angolensis, Bradyrhizobium vignae 7-2T and Bradyrhizobium namibiense 5-10T from the Kavango region of Namibia as well as Bradyrhizobium elkanii LMG6234T and Bradyrhizobium yuanmingense LMG21728T induced nitrogen-fixing nodules, while Bradyrhizobium diazoefficiens USDA110T and Bradyrhizobium tropiciagri SEMIA6148T did not. This suggests a broad microsymbiont range from Bradyrhizobium japonicum and B. elkanii lineages. Phylogenetic analysis of nodC genes indicated that nodulating bradyrhizobia did not belong to a specific symbiovar. Also, for I. rautanenii and Wiborgia, nodule isolates B. ripae WR4T or Mesorhizobium sp. WR52, respectively, were authenticated. Characterization of symbionts inducing effective root nodules in P. angolensis and other shrubs from Subsahara Africa (SSA) give insights in their symbiotic partners for the first time and might help in future to develop bioinoculants for young seedlings in nurseries, and for reforestation efforts in Southern Africa.
Primary Headache Disorder Among School Students in Kuwait

Background: Primary headaches are remarkably prevalent worldwide and are increasingly reported among children. However, the exact trend in this age group, particularly in the Gulf region, remains largely unknown. Aims and Objectives: To examine the prevalence of primary headache disorders among primary and middle school students in Kuwait. Methods: We conducted a cross-sectional study that included Kuwaiti primary and middle school children and adolescents of both genders in randomly selected schools located in two governorates in Kuwait in the 2018/2019 academic year. Prevalence and attributable burden of headaches, definite and probable migraines, definite and probable tension-type headaches, chronic headaches (≥15 days/month), and probable medication-overuse headaches were assessed using the Headache-Attributed Restriction, Disability, Social Handicap, and Impaired Participation (HARDSHIP) questionnaire for children and adolescents. Results: Of 1,485 questionnaires that were distributed, 1,089 students completed the questionnaire with a respondent rate of 73.4%. The study population consisted of 420 boys (38.56%) and 669 girls (61.43%) students with a mean age of 11.5 ± 2.11 years. The 1-year prevalence of primary headache disorders was 42.78%, with more middle schoolers reporting headaches than primary schoolers (50.37 vs. 30.48%; p < 0.02). The mean age of students with primary headaches was 11.98 ± 2.03 years in both genders. When stratified according to diagnostic criteria, migraine headaches were the most frequently reported (20.75%), followed by tension type headaches (18.8%), chronic headaches (2.75%), and probable medication-overuse headaches (0.46%). Primary headaches were significantly higher in girls compared to boys among middle schoolers (66.46 vs. 38.49%; p < 0.001); however, no significant difference between genders was noted among primary school students (33.12 vs. 22.33%; p < 0.118). Conclusion: Primary headaches are remarkably common in Kuwaiti school students, with migraine headaches being the most frequently reported type. Age and female gender may play a role in the development of primary headaches. These findings necessitate the direction of health services and research efforts toward this age group and warrant the need for further epidemiological studies.
COVID-19 Pandemic: Demographic Predictors of Self-Isolation or Self-Quarantine and Impact of Isolation and Quarantine on Perceived Stress, Anxiety, and Depression

Introduction: With the sudden onset and global dispersal of the SARS-CoV-2 virus, many nations including Canada attempted to reduce spread of the resultant COVID-19 syndrome with self-isolation and quarantine, while seeking a cure or vaccine for this disease. Understanding impacts of self-isolation and self-quarantine on stress, anxiety, and depression will help us to mitigate these issues through appropriate development of mental health services. Methods: The sample was drawn from individuals who self-subscribed to Text4Hope, a service that delivers text messages based on a cognitive behavioral therapy framework. Text4Hope was developed to support Albertans during the COVID-19 pandemic. Subscribers were asked for demographic information and if they had to self-isolate or self-quarantine during the pandemic via a survey link. Mental health was assessed using the validated instruments: Perceived Stress Scale (PSS), Generalized Anxiety Disorder-7 item scale (GAD-7), and the Patient Health Questionnaire-9 (PHQ-9). Descriptive statistics and Chi-Square test results were derived using Statistical Package for Social Sciences (SPSS) version-26. Results: 6,041 of 32,805 Text4Hope subscribers (18.4%) completed the survey. Of these respondents, 19.2% had self-isolated or self-quarantined in Alberta as of March 31, 2020 during the COVID-19 pandemic. Post-hoc analysis using adjusted residuals suggested that individuals aged 60 years of age or older, and retirees had a higher likelihood of self-isolation or self-quarantine, compared to respondents with other age or employment characteristics. One-week prevalence rates for self-reported measures of moderate to high stress, likely Generalized Anxiety Disorder (GAD), and likely Major Depressive Disorder (MDD) were 84.9, 46.7, and 41.4%, respectively. Respondents who had to self-isolate or self-quarantine during the COVID-19 pandemic were significantly more likely to present with moderate to high stress, significant anxiety symptomatology, and significant depressive symptomatology. Conclusions: Older age and employment status were significantly associated with the likelihood of self-isolation or self-quarantine. We found elevated self-reported levels of anxiety and depression associated with self-reported COVID-19 pandemic-related self-isolation and self-quarantine activity. These findings have mental health implications both during and after the pandemic and demonstrate the need for greater focus on psychological complications of self-isolation and self-quarantine, and development of optimal ways to manage these pandemic consequences.
Atomically Defined Rare‐Earth Scandate Crystal Surfaces

The fabrication of well‐defined, atomically sharp substrate surfaces over a wide range of lattice parameters is reported, which is crucial for atomically regulated epitaxial growth of complex oxide heterostructures. By applying a framework for controlled selective wet etching of complex oxides on the stable rare‐earth scandates (REScO3), apseudocubic = 0.394 – 0.404 nm, the large chemical sensitivity of REScO3 to basic solutions is exploited, which results in reproducible, single‐terminated surfaces. Time‐of‐flight mass‐spectroscopy measurements show that after wet etching the surfaces are predominantly ScO2 ‐terminated. Moreover, the morphology study of SrRuO3 thin‐film growth gives no evidence for mixed termination. Therefore, it is concluded that the REScO3 surfaces are completely ScO2 ‐terminated.
The Anti-apoptosis Effect of Single Electroacupuncture Treatment via Suppressing Neuronal Autophagy in the Acute Stage of Ischemic Stroke Without Infarct Alleviation

The main purpose of the study was to investigate the antiapoptotic effect of electroacupuncture (EA) in the acute stage of ischaemic stroke in rats. The cerebral ischemia model was established by middle cerebral artery occlusion (MCAO)/reperfusion in rats. A single EA treatment was performed at the acute stage of ischaemic stroke. The neurological function, brain water content, apoptotic cell number, and cerebral infarct volume were assessed in stroke rats. The expression of autophagy-related proteins (LC3II/I, Beclin1, P62, and LAMP1), Sirtuin 1 (SIRT1), p-JNK, p-ERK1/2, and cleaved caspase-3 (CCAS3) were measured by Western blot, immunofluorescence, and immunohistochemistry. Rapamycin (RAP, an activator of autophagy) was used to confirm the antiapoptotic effect of EA via regulating autophagy. The brain edema infarct size and apoptotic cell number were increasing within 3 days following stroke, and brain edema reached its peak at 24 h after stroke. EA treatment at 24 h after ischaemic stroke obviously suppressed the number of apoptotic cells and brain edema. However, there were no significant differences in infarct volumes among EA-12 h, EA-24 h, and MCAO/R group. Moreover, EA treatment at 24 h after ischaemic stroke obviously suppressed the expression of CCAS3, LC3II/I, Beclin1 while increasing the level of P62 and LAMP1 and hence mediating autophagy, which was reversed by RAP. Meanwhile, the expression of SIRT1, p-ERK1/2, p-JNK were promoted by EA at 24 h after ischaemic stroke. In conclusion, EA treatment may suppress apoptosis possibly via regulating autophagy in the acute period after ischaemic stroke, hence reducing brain injury.
Fecal Fungal Dysbiosis in Chinese Patients With Alzheimer’s Disease

Gut bacterial dysbiosis plays a vital role in the development of Alzheimer’s disease (AD). However, our understanding of alterations to the gut fungal microbiota and their correlations with host immunity in AD is still limited. Samples were obtained from 88 Chinese patients with AD, and 65 age- and gender-matched, cognitively normal controls. Using these samples, we investigated the fungal microbiota targeting internal transcribed spacer 2 (ITS2) rRNA genes using MiSeq sequencing, and analyzed their associations with the host immune response. Our data demonstrated unaltered fungal diversity but altered taxonomic composition of the fecal fungal microbiota in the AD patients. The analysis of the fungal microbiota was performed using 6,585,557 high-quality reads (2,932,482 reads from the controls and 3,653,075 from the AD patients), with an average of 43,042 reads per sample. We found that several key differential fungi such as Candida tropicalis and Schizophyllum commune were enriched in the AD patients, while Rhodotorula mucilaginosa decreased significantly. Interestingly, C. tropicalis and S. commune were positively correlated with IP-10 and TNF-α levels. In contrast, C. tropicalis was negatively correlated with IL-8 and IFN-γ levels, and R. mucilaginosa was negatively correlated with TNF-α level. PiCRUSt analysis revealed that lipoic acid metabolism, starch and sucrose metabolism were significantly decreased in the AD fungal microbiota. This study is the first to demonstrate fecal fungal dysbiosis in stable AD patients at a deeper level, and to identify the key differential fungi involved in regulating host systemic immunity. The analysis of the fungal microbiota in AD performed here may provide novel insights into the etiopathogenesis of AD and pave the way for improved diagnosis and treatment of AD.