Miracle-dz/UniFAR-FTUs huggingface dataset:
Evaluation of transcription factors and cytokine expressions of T‐cell subsets in CD19 deficiency and their possible relationship with autoimmune disease

CD19 deficiency is a rare, predominantly antibody deficiency, and there are few studies showing that it can be seen in autoimmune diseases. The aim of study was evaluated to transcription factor and cytokine expressions of helper T (Th)‐cell subsets in CD19 deficiency and the possible mechanism role of this factor expression in autoimmune disease. Transcription factor and cytokine expressions of Th1, Th2, Th17, and regulatory T (Treg) cells were investigated by real‐time polymerase chain reaction (qPCR) method. In the study, in the patient/control comparison, transcription factor and cytokine expressions of Th1 (T‐bet, STAT1, and STAT4) were found to be significantly downregulated, but IFN‐γ was significantly upregulated in patients. Th2 factor GATA3, STAT6, IL‐4, and IL‐5 were significantly downregulated. For Th17, RORγt was downregulated while IL‐22 was upregulated. In the heterozygous/control comparison, there was no significant change in gene expressions other than IL‐5. T‐bet, STAT1, GATA3, IL‐4, RORγt, FoxP3, and TGF‐β were significantly downregulated in the patient/heterozygous comparison. It was revealed for the first time that the expression of the transcription factors and cytokines in CD19 deficiency. These findings might be showing the predominance of Th1 factors and suppressed Treg factors which could be related with autoimmunity in CD19 deficiency.
Autonomous and non-cell autonomous role of cilia in structural birth defects in mice

Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in Ift140, an intraflagellar transport (IFT) protein regulating ciliogenesis. Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula (TEF), randomized heart looping, congenital heart defects (CHDs), lung hypoplasia, renal anomalies, and polydactyly. Tamoxifen inducible CAGGCre-ER deletion of a floxed Ift140 allele between E5.5 to 9.5 revealed early requirement for Ift140 in left-right heart looping regulation, mid to late requirement for cardiac outflow septation and alignment, and late requirement for craniofacial development and body wall closure. Surprisingly, CHD were not observed with 4 Cre drivers targeting different lineages essential for heart development, but craniofacial defects and omphalocele were observed with Wnt1-Cre targeting neural crest and Tbx18-Cre targeting epicardial lineage and rostral sclerotome through which trunk neural crest cells migrate. These findings revealed cell autonomous role of cilia in cranial/trunk neural crest-mediated craniofacial and body wall closure defects, while non-cell autonomous multi-lineage interactions underlie CHD pathogenesis, revealing unexpected developmental complexity for CHD associated with ciliopathies.
Maternal metabolic profiling across body mass index groups: An exploratory longitudinal study

Abstract Introduction Increased BMI has been identified as a risk factor for most pregnancy complications, but the underlying metabolic factors mediating the detrimental effects of BMI are largely unknown. We aimed to compare metabolic profiles in overweight/obese women (body mass index [BMI] ≥ 25 kg/m2) and normal weight/underweight women (BMI < 25 kg/m2) across gestation. We also explored how gestational weight gain (GWG) affected maternal metabolic profiles. Material and methods Exploratory nested case–control study based on a prospective longitudinal cohort of women who were healthy prior to pregnancy and gave birth at Oslo University Hospital from 2002 to 2008. The sample consisted of 48 women who were overweight/obese and 59 normal‐weight/underweight women. Plasma samples from four time points in pregnancy (weeks 14–16, 22–24, 30–32 and 36–38) were analyzed by nuclear magnetic resonance spectroscopy and 91 metabolites were measured. Linear regression models were fitted for each of the metabolites at each time point. Results Overweight or obese women had higher levels of lipids in very‐low‐density lipoprotein (VLDL), total triglycerides, triglycerides in VLDL, total fatty acids, monounsaturated fatty acids, saturated fatty acids, leucine, valine, and total branched‐chain amino acids in pregnancy weeks 14–16 compared to underweight and normal‐weight women. Docosahexaenoic acid and degree of unsaturation were significantly lower in overweight/obese women in pregnancy weeks 36–38. In addition, overweight or obese women had higher particle concentration of XXL‐VLDL and glycoprotein acetyls (GlycA) at weeks 14–16 and 30–32. GWG did not seem to affect the metabolic profile, regardless of BMI group when BMI was treated as a dichotomous variable, ≥25 kg/m2 (yes/no). Conclusions Overweight or obese women had smaller pregnancy‐related metabolic alterations than normal‐weight/underweight women. There was a trend toward higher triglyceride and VLDL particle concentration in overweight/obese women. As this was a hypothesis‐generating study, the similarities with late‐onset pre‐eclampsia warrant further investigation. The unfavorable development of fatty acid composition in overweight/obese women, with possible implication for the offspring, should also be studied further in the future.
The highs and lows of cyclic thrombocytopenia

Cyclic thrombocytopenia (CTP) is characterized by periodic platelet oscillation with substantial amplitude. Most CTP cases have a thrombocytopenic background and are often misdiagnosed as immune thrombocytopenia with erratically effective treatment choices. CTP also occurs during hydroxyurea treatment in patients with myeloproliferative diseases. While the aetiology of CTP remains uncertain, here we evaluate historical, theoretical and clinical findings to provide a framework for understanding CTP pathophysiology. CTP retains the intrinsic oscillatory factors defined by the homeostatic regulation of platelet count, presenting as reciprocal platelet/thrombopoietin oscillations and stable oscillation periodicity. Moreover, CTP patients possess pathogenic factors destabilizing the platelet homeostatic system thereby creating opportunities for external perturbations to initiate and sustain the exaggerated platelet oscillations. Beyond humoral and cell‐mediated autoimmunity, we propose recently uncovered germline and somatic genetic variants, such as those of MPL, STAT3 or DNMT3A, as pathogenic factors in thrombocytopenia‐related CTP. Likewise, the JAK2 V617F or BCR::ABL1 translocation that drives underlying myeloproliferative diseases may also play a pathogenic role in hydroxyurea‐induced CTP, where hydroxyurea treatment can serve as both a trigger and a pathogenic factor of platelet oscillation. Elucidating the pathogenic landscape of CTP provides an opportunity for targeted therapeutic approaches in the future.
Phonological awareness and early reading skills in children with cochlear implants

This paper summarises findings from a population study on outcomes of children with hearing loss in Australia, the Longitudinal Outcomes of Children with Hearing Impairment (LOCHI, www.outcomes.nal.gov.au) study. Children were evaluated at several intervals using standardised tests, and the relationship between a range of predictors and the outcomes was examined. This paper reports the performance of children with cochlear implants at 5 years of age together with factors predicting word reading ability. Earlier age at cochlear implantation was significantly associated with better word reading ability, after controlling for the effects of language, receptive vocabulary, nonverbal cognitive ability and device configuration.
Effects of Two Different Low-Volume Resistance Training Programs Applied During the Off-Season Period on the Speed-Power Performance of Elite Youth Soccer Players.

ABSTRACT Loturco, I, Nunes, RFH, Lampert, RR, Silva, RLP, Hespanhol, JE, Novack, LF, Conde, JHS, Pereira, LA, and McGuigan, MR. Effects of two different low-volume resistance training programs applied during the off-season period on the speed-power performance of elite youth soccer players. J Strength Cond Res XX(X): 000-000, 2023-The aim of this study was to analyze the changes in the speed-power performance of elite youth soccer players submitted to 2 different low-volume resistance training programs during the off-season period. Twenty under-17 players were randomly allocated to "traditional nonballistic" or "ballistic training" groups. Countermovement jump (CMJ), 20-m sprinting speed, and half-squat (HS) power tests were performed after the final match of the season (pretesting session) and at the beginning of the subsequent season (post-testing session), after 4 weeks of detraining. Between-group differences were assessed using a 2-way ANOVA with repeated measures followed by the Tukey's post hoc test. Performance variations were individually analyzed with the use of the "true changes" calculation. At post-tests, CMJ height and HS power remained unchanged (p > 0.05) but similar and significant improvements in sprint speed were observed in both groups (p < 0.05). However, notably, a larger number of players in the ballistic group exhibited "true changes" in HS power (i.e., 55 vs. 33%, compared with the traditional group, respectively). In conclusion, either low-volume ballistic or traditional resistance training schemes were able to increase sprint speed and maintain power output during a short interseason break in youth soccer players. Despite this apparent similarity, at the individual level, ballistic movements were more efficient at improving lower-body power. Practitioners can use the strategies described here to improve the sprint and power performance of soccer players during short periods of soccer-specific training cessation.
Neural tube-associated boundary caps are a major source of mural cells in the skin

In addition to their roles in protecting nerves and increasing conduction velocity, peripheral glia plays key functions in blood vessel development by secreting molecules governing arteries alignment and maturation with nerves. Here, we show in mice that a specific, nerve-attached cell population, derived from boundary caps (BCs), constitutes a major source of mural cells for the developing skin vasculature. Using Cre-based reporter cell tracing and single-cell transcriptomics, we show that BC derivatives migrate into the skin along the nerves, detach from them, and differentiate into pericytes and vascular smooth muscle cells. Genetic ablation of this population affects the organization of the skin vascular network. Our results reveal the heterogeneity and extended potential of the BC population in mice, which gives rise to mural cells, in addition to previously described neurons, Schwann cells, and melanocytes. Finally, our results suggest that mural specification of BC derivatives takes place before their migration along nerves to the mouse skin.
Neighborhoods and Cardiovascular Health: A Scientific Statement From the American Heart Association

The neighborhoods where individuals reside shape environmental exposures, access to resources, and opportunities. The inequitable distribution of resources and opportunities across neighborhoods perpetuates and exacerbates cardiovascular health inequities. Thus, interventions that address the neighborhood environment could reduce the inequitable burden of cardiovascular disease in disenfranchised populations. The objective of this scientific statement is to provide a roadmap illustrating how current knowledge regarding the effects of neighborhoods on cardiovascular disease can be used to develop and implement effective interventions to improve cardiovascular health at the population, health system, community, and individual levels. PubMed/Medline, CINAHL, Cochrane Library reviews, and ClinicalTrials.gov were used to identify observational studies and interventions examining or targeting neighborhood conditions in relation to cardiovascular health. The scientific statement summarizes how neighborhoods have been incorporated into the actions of health care systems, interventions in community settings, and policies and interventions that involve modifying the neighborhood environment. This scientific statement presents promising findings that can be expanded and implemented more broadly and identifies methodological challenges in designing studies to evaluate important neighborhood-related policies and interventions. Last, this scientific statement offers recommendations for areas that merit further research to promote a deeper understanding of the contributions of neighborhoods to cardiovascular health and health inequities and to stimulate the development of more effective interventions.
memo-eQTL: DNA methylation modulated genetic variant effect on gene transcriptional regulation

Expression quantitative trait locus (eQTL) analysis has become an important tool in understanding the link between genetic variants and gene expression, ultimately helping to bridge the gap between risk SNPs and associated diseases. Recently, we identified and validated a specific case where the methylation of a CpG site can affect the relationship between the genetic variant and gene expression. To systematically evaluate this regulatory mechanism, we developed an extended eQTL mapping method named DNA methylation modulated eQTL (memo-eQTL). We performed memo-eQTL mapping in 128 normal prostate samples and discovered 1,731 memo-eQTLs, a vast majority of which have not been reported as eQTLs. We found that the methylation of the memo-eQTL CpG sites can either enhance or insulate the interaction between SNP and Gene expression by altering CTCF-based chromatin 3D structure. This study demonstrated the prevalence of memo-eQTLs, which can enable the identification of novel causal genes for traits or diseases associated with genetic variations.
Vaginal aerobic bacteria of healthy bitches and those with fertility problems.

The most common problems in veterinary practice in bitches are bacterial infections of the reproductive tract associated with fertility problems. Research to determine the correlation between the health status of female dogs and bacterial flora of the genital tract has been ongoing for years, but the results obtained by different authors are often contradictory, and do not always concern breeding bitches. Our study identified the most common aerobic bacteria in the genital tract of numerous breeding bitches population. A total of 275 breeding dogs in anestrous phase of the estrous cycle were included in this study. 198 were qualified to the first group with no genital tract infections and no reproductive disorders. 68 bitches were qualified to the second group with complications such as: infertility, abortion, foetus resorptions and newborn mortality. The type of bacterial isolates was almost the same in the healthy bitches and the group with fertility problems. The most common bacteria obtained from the vaginal tract of the tested dogs were Streptococcus spp. , Staphylococcus spp. , Mycoplasma canis and Escherichia coli. There were no significant differences in bacterial prevalence in the group with reproductive problems versus healthy dogs; however, we found a statistically significant difference between both groups when the numbers of bacterial strains were compared. The number of one-strain bitches was statistically higher in the problematic group than in the non-problematic one. Bacterial culturing of vaginal swab specimens from breeding bitches without clinical signs of genital disease is of little value. Furthermore, it should always be preceded by an examination (clinical, cytological or vaginoscopy etc.). The request or requirement to perform vaginal cultures that is made by some breeders, while common, is not diagnostic for any pathologic condition and the results of these cultures should never be used to determine if antibiotic therapy is indicated.
Impact of Sodium‐Glucose Cotransporter 2 Inhibitor on Recurrence After Catheter Ablation for Atrial Fibrillation in Patients With Diabetes: A Propensity‐Score Matching Study and Meta‐Analysis

Background The association between sodium‐glucose cotransporter 2 inhibitors (SGLT2i) and atrial fibrillation (AF) recurrence after catheter ablation among patients with diabetes and AF remains unclear. Methods and Results Patients with AF undergoing initial catheter ablation with a history of diabetes from the China AF registry were included. Patients using SGLT2i were identified and matched by propensity score with non‐SGLT2i patients in a 1:3 ratio. The main outcome was AF recurrence during the 18‐month follow‐up. A total of 138 patients with diabetes with SGLT2i therapy and 387 without SGLT2i were analyzed. AF recurrence occurred in 37 patients (26.8%) in the SGLT2i group and 152 patients (39.3%) in the non‐SGLT2i group during a total of 593.3 person‐years follow‐up. The SGLT2i group was associated with lower AF recurrence compared with the non‐SGLT2i group (hazard ratio, 0.63 [95% CI, 0.44–0.90], P=0.007). A total of 4 studies were analyzed in our meta‐analysis demonstrating that SGLT2i was associated with lower AF recurrence after catheter ablation (odds ratio, 0.61 [95% CI, 0.54–0.69]; P<0.001, I 2=0.0%). Conclusions Our prospective study coupled with a meta‐analysis demonstrated a lower risk of AF recurrence with the use of SGLT2i among patients with diabetes after AF ablation.
Carinachitiids, hexangulaconulariids, and Punctatus: problematic metazoans from the Early Cambrian of South China

Carinachitiids, hexangulaconulariids, and Punctatus are distinctive and abundant components of early skeletal faunas from the Lower Cambrian of South China. Carinachitiids are redescribed on the basis of Carinachites spinatus from Kuanchuanpu, Shaanxi, and C. tetrasulcatus and C. curvatornatus from Emei, Sichuan. Tubes of all species are characterized by pronounced quadriradial symmetry, but whereas C. spinatus and C. curvatornatus generally have prominent ornamentation consisting of transverse ribbing, that of C. tetrasulcatus is much more subdued. Neither apex nor well-defined aperture is evident in any of the carinachitiids. Hexangulaconulariids are redescribed on the basis of Arthrochites emeishanensis from Emei and Hexaconularia sichuanensis from Kuanchuanpu. In common with the carinachitiids, the former species shows wide morphological variability. The tubes expand rapidly from a blunt apex, bear prominent ribbing, and possess variably developed lateral grooves that impose a quasi-hexaradial symmetry. Hexaconularia sichuanensis is described from fragmentary material with prominent ribbing and well-defined lateral grooves. Punctatus emeiensis has a tapering ribbed cone, with a stellate ornamentation adapically that is replaced by longitudinal ribbing towards the aperture. Carinachitiids and hexangulaconulariids are widely regarded as related to conularids, and this proposal receives additional support here. An external abortive ? borehole in a specimen of Carinachites also supports the tubicolous interpretation of these fossils. An alternative suggestion that carinachitiids and hexangulaconulariids represent the internal rachis of a sea-pen is also considered. The affinities of Punctatus are more speculative, but the genus may be related to the other two groups. The ecology of Punctatus, however, remains problematic.
Children and chrono-exercise: Timing of physical activity on school and weekend days depends on sex and obesity status

ABSTRACT Recommendations for physical activity (PA) typically focus on frequency, intensity, duration, and type, but timing (chrono-exercise) is also important. The objective of this study is to describe when children are active on school and weekend days and explore PA timing across sex and body mass index (BMI) categories. 359 children (53% male), aged 9.6 (0.9) y, were categorized as normal weight (≥-1 standard deviations (SD) and <1SD; n = 193), overweight (≥1SD and <2SD; n = 80), or obese (≥2SD; n = 86) using WHO BMIz. Moderate-to-vigorous PA (MVPA) was assessed using ActiGraph LS-7164. The results are described as Mean(SD). ANOVA evaluated MVPA across sexes and BMI categories. Normal weight boys were more active than boys with obesity on school (Δ20.33 min; p < 0.001) and weekend days (Δ15.04 min; p < 0.05). On school days, significant differences existed between 9:00 h-11:00 h and 12:00 h-14:00 h (p < 0.017), while on weekends, smaller differences existed throughout the day. Girls’ MVPA was similar across BMI categories, on all days (p > 0.05). On school days, 12:00 h-13:00 h represented the most active hour for all participants (~14% total daily MVPA). Peak weekend MVPA was distributed across multiple hours. Differences in MVPA timing emerged on school-days and weekends. Timing may be important when examining the nuances of MVPA in relation to sex and bodyweight in children.
Multiobjective Calibration of a Global Biogeochemical Ocean Model Against Nutrients, Oxygen, and Oxygen Minimum Zones

Global biogeochemical ocean models rely on many parameters, which govern the interaction between individual components, and their response to the physical environment. They are often assessed/calibrated against quasi‐synoptic data sets of dissolved inorganic tracers. However, a good fit to one observation might not necessarily imply a good match to another. We investigate whether two different metrics—the root‐mean‐square error to nutrients and oxygen and a metric measuring the overlap between simulated and observed oxygen minimum zones (OMZs)—help to constrain a global biogeochemical model in different aspects of performance. Three global model optimizations are carried out. Two single‐objective optimizations target the root‐mean‐square metric and a sum of both metrics, respectively. We then present and explore multiobjective optimization, which results in a set of compromise solutions. Our results suggest that optimal parameters for denitrification and nitrogen fixation differ when applying different metrics. Optimization against observed OMZs leads to parameters that enhance fixed nitrogen cycling; this causes too low nitrate concentrations and a too high global pelagic denitrification rate. Optimization against nutrient and oxygen concentrations leads to different parameters and a lower global fixed nitrogen turnover; this results in a worse fit to OMZs. Multiobjective optimization resolves this antagonistic effect and provides an ensemble of parameter sets, which help to address different research questions. We finally discuss how systematic model calibration can help to improve models used for projecting climate change and its effect on fisheries and climate gas emissions.