Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior

We report the genetic analysis of two consanguineous pedigrees of Pakistani ancestry in which two siblings in each family exhibited developmental delay, epilepsy, intellectual disability and aggressive behavior. Whole-genome sequencing was performed in Family 1, and we identified ~80,000 variants located in regions of homozygosity. Of these, 615 variants had a minor allele frequency ≤ 0.001, and 21 variants had CADD scores ≥ 15. Four homozygous exonic variants were identified in both affected siblings: PDZD7 (c.1348_1350delGAG, p.Glu450del), ALG6 (c.1033G>C, p.Glu345Gln), RBM20 (c.1587C>G, p.Ser529Arg), and CNTNAP2 (c.785G>A, p.Gly228Arg). Sanger sequencing revealed co-segregation of the PDZD7, RBM20, and CNTNAP2 variants with disease in Family 1. Pathogenic variants in PDZD7 and RBM20 are associated with autosomal recessive non-syndromic hearing loss and autosomal dominant dilated cardiomyopathy, respectively, suggesting that these variants are unlikely likely to contribute to the clinical presentation. Gene panel analysis was performed on the two affected siblings in Family 2, and they were found to also be homozygous for the p.Gly228Arg CNTNAP2 variant. Together these families provide a LOD score 2.9 toward p.Gly228Arg CNTNAP2 being a completely penetrant recessive cause of this disease. The clinical presentation of the affected siblings in both families is also consistent with previous reports from individuals with homozygous CNTNAP2 variants where at least one allele was a nonsense variant, frameshift or small deletion. Our data suggests that homozygous CNTNAP2 missense variants can also contribute to disease, thereby expanding the genetic landscape of CNTNAP2 dysfunction.
Understanding Motivation, Career Planning, and Socio-Cultural Adaptation Difficulties as Determinants of Higher Education Institution Choice Decision by International Students in the Post-pandemic Era

The world is facing an unprecedented health crisis with the spread of COVID-19 across different corners of the globe. This pandemic has raised more significant concerns about international students’ learning environment, personality development, and career planning, particularly in high-ranked institutes in China. Now the question concerning this dilemma is, would the COVID-19 pandemic negatively affect students’ education and the country culture where they are bound to seek information and the subject education? Therefore, this study examines the impact of innovative learning environment, career planning, and socio-cultural adaptation-related difficulties faced by international students as determinants of higher education institution choice decisions made by international students in the post-pandemic era. This quantitative study examined international students in high-ranked universities across China. The data from 260 students were collected through a structured questionnaire and analyzed using the AMOS technique. Moreover, it has been observed that the current global health crisis has intensified social inequalities across different international higher education systems. Countries fail to maintain the scale of the innovative international learning environment. The results further indicated that international students are more considerate of innovative learning environments, cultural adoption, career planning, and personality development, specifically after the outbreak of the COVID-19 pandemic, which has drastically affected the global higher education system. Unusually, more than half of the participants wanted to maintain the option of overall distance education after the pandemic. However, apart from this argument, it is appropriate to demand significant changes in post-pandemic education adapted to the post-digital era and to satisfy the concerns and expectations of the students.
The Role of Patient-Specific Morphological Features of the Left Atrial Appendage on the Thromboembolic Risk Under Atrial Fibrillation

Background A large majority of thrombi causing ischemic complications under atrial fibrillation (AF) originate in the left atrial appendage (LAA), an anatomical structure departing from the left atrium, characterized by a large morphological variability between individuals. This work analyses the hemodynamics simulated for different patient-specific models of LAA by means of computational fluid–structure interaction studies, modeling the effect of the changes in contractility and shape resulting from AF. Methods Three operating conditions were analyzed: sinus rhythm, acute atrial fibrillation, and chronic atrial fibrillation. These were simulated on four patient-specific LAA morphologies, each associated with one of the main morphological variants identified from the common classification: chicken wing, cactus, windsock, and cauliflower. Active contractility of the wall muscle was calibrated on the basis of clinical evaluations of the filling and emptying volumes, and boundary conditions were imposed on the fluid to replicate physiological and pathological atrial pressures, typical of the various operating conditions. Results The LAA volume and shear strain rates were analyzed over time and space for the different models. Globally, under AF conditions, all models were well aligned in terms of shear strain rate values and predicted levels of risk. Regions of low shear rate, typically associated with a higher risk of a clot, appeared to be promoted by sudden bends and focused at the trabecule and the lobes. These become substantially more pronounced and extended with AF, especially under acute conditions. Conclusion This work clarifies the role of active and passive contraction on the healthy hemodynamics in the LAA, analyzing the hemodynamic effect of AF that promotes clot formation. The study indicates that local LAA topological features are more directly associated with a thromboembolic risk than the global shape of the appendage, suggesting that more effective classification criteria should be identified.
Efficacy of dietary supplements targeting gut microbiota in the prevention and treatment of gestational diabetes mellitus

Gestational diabetes mellitus (GDM) is a kind of metabolic disease occurring during gestation period, which often leads to adverse pregnancy outcomes and seriously harms the health of mothers and infants. The pathogenesis of GDM may be bound up with the abnormal gut microbiota composition in pregnant women. Previous studies have clarified that dietary supplements can regulate the gut microbiota to play a role. Therefore, using dietary supplements, such as probiotics, prebiotics, and synbiotics to target the gut microbiota to regulate the disordered gut microbiota would become a potential method that benefits for preventing and treating GDM. This paper reviews a series of clinical trials in recent years, expounds on the clinical effects of dietary supplements such as probiotics on GDM, and discusses the intervention effects of dietary supplements on GDM related risk factors, including overweight, obesity, and type 2 diabetes mellitus (T2DM). In addition, the relationship of GDM and gut microbiota is also discussed, and the possible mechanisms of dietary supplements are summarized. This review will help to promote the further development of dietary supplements targeting gut microbiota and provide more knowledge support for clinical application in the prevention and treatment of various diseases.
Sensitive Measures of Soil Health Reveal Carbon Stability Across a Management Intensity and Plant Biodiversity Gradient

Soil carbon (C) is a major driver of soil health, yet little is known regarding how sensitive measures of soil C shift temporally within a single growing season in response to short-term weather perturbations. Our study aimed to i) Examine how long-term management impacts soil C cycling and stability across a management intensity and plant biodiversity gradient and ii) Assess how sensitive soil health indicators change temporally over the course of a single growing season in response to recent weather patterns. Here we quantify a variety of sensitive soil C measures at four time points across the 2021 growing season at the W.K. Kellogg Biological Station’s Long Term Ecological Research Trial (LTER) located in southwest Michigan, USA. The eight systems sampled included four annual soybean (Glycine max) systems that ranged in management intensity (conventional, no-till, reduced input, and biologically-based), two perennial biofuel cropping systems (switchgrass (Panicum virgatum) and hybrid poplars (Populus nigra x P.maximowiczii)), and two unmanaged systems (early successional system and a mown but never tilled grassland). We found that unmanaged systems with increased perenniality enhanced mineralizable C (Min C) and permanganate oxidizable C (POXC) values. Additionally, all soil health indicators were found to be sensitive to changes in short-term weather perturbations over the course of the growing season. The implications of this study are threefold. First, this study assess indicators of labile and stable C pools over the course of the growing season and reflects the stability of soil C in different systems. Second, POXC, Min C, and ß-glucosidase (GLU) activity are sensitive soil health indicators that fluctuate temporally, which means that these soil health indicators could help elucidate the impact that weather patterns have on soil C dynamics. Lastly, for effective monitoring of soil C, sampling time and frequency should be considered for a comprehensive understanding of soil C cycling within a system.
Transcriptome and Metabolome Analyses Reveal the Involvement of Multiple Pathways in Flowering Intensity in Mango

Mango (Mangifera indica L.) is famous for its sweet flavor and aroma. China is one of the major mango-producing countries. Mango is known for variations in flowering intensity that impacts fruit yield and farmers' profitability. In the present study, transcriptome and metabolome analyses of three cultivars with different flowering intensities were performed to preliminarily elucidate their regulatory mechanisms. The transcriptome profiling identified 36,242 genes. The major observation was the differential expression patterns of 334 flowering-related genes among the three mango varieties. The metabolome profiling detected 1,023 metabolites that were grouped into 11 compound classes. Our results show that the interplay of the FLOWERING LOCUS T and CONSTANS together with their upstream/downstream regulators/repressors modulate flowering robustness. We found that both gibberellins and auxins are associated with the flowering intensities of studied mango varieties. Finally, we discuss the roles of sugar biosynthesis and ambient temperature pathways in mango flowering. Overall, this study presents multiple pathways that can be manipulated in mango trees regarding flowering robustness.
Radio observations at 21 cm wavelemgth in the direction of Geminga

On a recherche un associe radio de la source Rγ de haute energie Geminga a 21 cm (1412,0 MHz) en utilisant le Radio Telescope de Westerbork. On a detecte 15 sources dont les flux s'echelonnent de ∼4 a ∼50 mJy. Trois sources, dont un quasar, sont variables. Le quasar et une autre source presentent un spectre radioplat. Aucun de ces candidats ne semble presenter de proprietes hautement anormales en ondes radio
Risk of perinatal mortality associated with asthma during pregnancy

Background : Thirteen studies investigating the association between asthma during pregnancy and perinatal mortality reported generally no increased risk. Most of these studies should be interpreted with caution because they were limited in terms of statistical power. Objective : To evaluate whether maternal asthma during pregnancy increases the risk of perinatal mortality. Methods : Through three administrative databases from Québec (Canada), we formed a cohort including asthmatic and non-asthmatic women who had at least one pregnancy between 1990 and 2002. Perinatal mortality was identified through diagnostic codes. We estimated the adjusted odds ratio of perinatal mortality comparing asthmatic and non-asthmatic women with Generalized Estimation Equations (GEE) models. The first model included all potential confounders (except SGA) while the second model excluded birth weight, gestational age at birth and SGA and the third model excluded birth weight, gestational age at birth but included only SGA. This analysis was also stratified for birth weight and gestational age at birth. Results : The cohort was formed of 13 100 and 28 042 single pregnancies from asthmatic and non-asthmatic women. The crude OR of perinatal mortality was 1.35, 95% CI (1.08-1.67). The OR decreased to 0.93 (95% CI: 0.75-1.17) after adjustment for birth weight and gestational age at birth. Asthmatic women had a higher rate of low birth weight baby and preterm delivery compared to non-asthmatic. Conclusion : The increased risk of low birth weight baby and premature delivery among asthmatic women may partly explain the association between maternal asthma and the increased risk of perinatal mortality.
Ring Finger Motif of Arabidopsis thaliana COP1 Defines a New Class of Zinc-binding Domain*

The COPl gene of Arabidopsis thaliana encodes a protein mediating the switch between the two devel-opmental pathways utilized in light and darkness. A cysteine-rich motif identified the COPl protein as a member of a group of regulatory proteins which share the amino acid motif Cys-X-X-Cys-loop I-Cys-X-His-X-X-Cys-X-X-Cys-loop II-Cys-X-X-Cys (ring finger). Although this new class of cysteine-rich motifs has been proposed to bind metal ions, no direct evidence supporting this has been presented. By analyzing the COPl protein expressed in Escherichia coli, we dem- onstrate here that each COPl molecule can bind up to two zinc atoms. The two zinc ions are bound with different affinities. One is tightly bound and resistant to urea and EDTA, whereas the other one is labile under those conditions. It is further shown that deletion of the ring finger motif abolishes the metal-bind- ing capacity of COP1. We conclude that the ring finger motif constitutes a zinc-coordinating element distinct from previously characterized zinc-binding domains.
Study on dynamic changes of platelet count and function in severe heatstroke rats

[Abstract] Objective Platelet count and functional abnormalities are important links of severe heatstroke-related coagulation disorder. This study explores the dynamic changes of platelet count and function in severe heatstroke rats. Methods Thirty Male Sprague Dawley (SD) rats were randomly and equally divided into 5 groups: room temperature group (sham), severe heatstroke (HS) recooling 0h(HS-0h), 3h(HS-3h), 6h(HS-6h) and 9h(HS-9h) groups. Sham group rats were housed at room temperature [(22.0 ± 0.5) ℃ and humidity (50.0% ± 5.0%)], while severe heat stress group rats were kept in an incubator at a temperature of (39.5 ± 0.2) ℃ and humidity of 60.0% ± 5.0%, and the rectal temperature (Tr) reached 43 ℃ as the severe heatstroke standard. Rats were transferred to the room temperature (22.0 ± 0.5) ℃ for natural cooling after severe heatstroke onset. The rats were sacrificed at 0, 3, 6 and 9h after severe HS onset. The platelet was isolated by platelet-rich plasma (PRP), and the purity of the platelet was identified. The platelets was counted on a blood cell analyzer using whole blood. The platelet surface expression of P-selectin (CD62P) was detected by flow cytometry. The platelet maximum aggregation rate was measured using a fully automated platelet aggregation instrument. Sonoclot was used to detect platelet function (PF). Results Compared with the sham group, the platelet counts were decreased with prolong of the recooling time in the severe heatstroke group ( P < 0.001). Platelet CD62P showed a time-dependent increase ( P <0.05), platelet maximum aggregation rate showed a time-dependent decrease ( P <0.001) and platelet function showed a time-dependent decline ( P <0.05) in heatstroke group rats. Conclusion Platelet count and the decrease in the function of aggregation and hemostasis are important manifestations of coagulation disorder in severe heatstroke, and its related mechanism is beneficial to the understanding of the pathogenesis of heatstroke.
FREQUENCY OF GASTROESOPHGEAL REFLUX DISEASE SYMPTOMS AMONG ADULTS IN SAUDI ARABIA

: Background: Gastroesophageal reflux disease (GERD) is the most common upper gastrointestinal disorder encountered in the elderly patient. It is highly prevalent worldwide with a prevalence of 10-20% in the western world. The health-related quality of life (HRQL) is lower in individuals with GERD than in the general population and is comparable to that in individuals with other chronic diseases. It has a considerable impact on the quality of the patient’s life through its symptoms and economically by following consultation procedures and medical care. A few studies have been done in Saudi Arabia using general population as subject and have reported a very high prevalence. Objective: (1) Estimation of gastro GERD prevalence among schoolteachers in Saudi Arabia. (2) To assess the impact of GERD symptoms on teacher’s daily life activity. (3) To compare prevalence and risk factors of GERD between age groups and gender. Methodology: A cross-sectional study that was conducted among 200 schoolteachers selected by multi-stage stratified random sample method in Saudi Arabia during 2018. A reliable and valid self-administered GERD questionnaire for diagnosis of GERD was used. GERD-HRQL questionnaire was used to assess the impact of GERD on the patient’s life quality. Data were analyzed using Statistical Package for Social Sciences Version 20.0; Chi-square was used to test the association between GERD and sociodemographic data. Results: The total number of the participants was 200 with an equal male to female ratio. 55% (116/200) of the participants reported with GERD. 53 point 5% of these (62/116) were female and 46.6% (54/116) were male. The commonest age group was 31-40 years with 45.5% (91/200) participants. 13/200 (6.5%) participants were smokers, of which only 15.9% were female. 41 point 3% (48/116) of the GERD +ve participants were having blood group O +ve 7.8% (9/116) of GERD participants reported symptoms which affected their daily life activity. Conclusion: This study revealed a prevalence of GERD symptoms among 58% of schoolteachers. 7 point 8% of GERD participants reported symptoms, which affected their daily life activities. These data indicate a need for a comprehensive approach to managing the GERD and related diseases and a more intensified level of awareness about GERD symptoms and its complications. In addition, a health care and preventive measure may be implemented to tackle the problem among schoolteachers.
Marital status and sleeping arrangements predict salivary 2 testosterone levels in rural Gambian men 3

: 44 Variation in male testosterone has been hypothesized to reflect the evolved hormonal 45 regulation of investment in mating versus parenting effort. Supporting this hypothesis, 46 numerous studies have observed lower testosterone in married men and fathers compared 47 with unpartnered and childless men, consistent with relatively elevated resource allocation to 48 parenting as opposed to mating effort. Furthermore, lower testosterone has been reported 49 among fathers more actively engaged in direct caregiving. However, it remains unclear 50 whether these findings generalize cross-culturally. Most studies have been conducted in 51 relatively urban, affluent, and low fertility settings where marriage is predominantly 52 monogamous. We contribute new data on testosterone variation in 100 rural Gambian men 53 from a polygynous, high fertility population, where cultural norms dictate that marriage and 54 fatherhood occur in close succession. Married men (almost exclusively fathers) had lower 55 average morning salivary testosterone than unmarried men (almost exclusively childless). 56 This difference, however, could not be statistically differentiated from declines in testosterone 57 observed with age. Independently of age differences and other potential confounds, we find 58 that (i) among married men, polygynously married men had higher afternoon testosterone 59 than monogamously married men; and (ii) fathers who sleep in the same room as their children 60 had lower morning and afternoon testosterone than those who sleep apart from their children. 61 We also document that body mass index was positively associated with afternoon 62 testosterone. These findings, from a novel setting, provide additional support for the 63 hypothesis that testosterone regulates human paternal care.
Automated Action Selection and Embodied Simulation for Socially Assistive Robots using Standardized Interactions

Robots have the tremendous potential of assisting people in their lives, allowing them to achieve goals that they would not be able to achieve by themselves. In particular, socially assistive robots provide assistance primarily through social interaction, in healthcare, therapy, and education contexts. Despite their potential, current socially assistive robots still lack robust interactive capabilities to allow them to carry out assistive tasks flexibly and autonomously. Some challenges for these robots include responding to and engaging in multi-modal behavior, operating with minimal expert intervention, and accommodating different user needs. Motivated by these challenges, this thesis aims at augmenting the algorithmic capabilities of such robots by leveraging the structure of existing standardized human-human interactions in assistive domains. Using therapy for Autism Spectrum Disorder (ASD) as a domain of focus, we explore two roles for a socially assistive robot: ‘provider’ and ‘receiver’. In the provider role, the robot proactively engages in assistive tasks with a human receiver (namely a child with ASD), following standardized interactive tasks. We contribute a family of algorithms for automated action selection, whose goal is to build cost-optimal robot action sequences that account for a range of receiver profiles. We further estimate the action parameters needed to run these algorithms through empirical studies with children with ASD and psychology experts, and show that the algorithms are able to generate personalized action sequences according to different child profiles. In the receiver role, the robot simulates common behavioral responses of children with ASD to the standardized actions, acting as an aid for providers in training. By reversing the standardized diagnosis pipeline, we first develop a simulation method that generates behaviors consistent with user-controllable receiver profiles. In a second step, we develop an interactive robot capable of responding to a therapist’s actions in an embodied fashion.
Phase Shift Detection: A Problem Classification

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