bluuebunny/crossref_metadata_2025_split huggingface dataset:
TP53 germline mutations are associated with HR+/HER2+ in BRCA1/2-negative early-onset breast cancer in China
Authors: Chen Lili , Huang Meng , Chen Minyan , Lin Yuxiang , Li Jing , Guo Wenhui , Wang Chuan , Fu Fangmeng 
Published: August 2022

Abstract
Background: Except for BRCA1/2, there is no data on the relationship between genetic counseling for the range of mutations and early-onset breast cancer populations. We looked for a link between inherited genes and the molecular subtype of early-onset breast cancer.Methods: We genotyped 1214 individuals with early-onset sporadic breast cancer (age≤40 years) who were BRCA1/2-negative in 3 genes: TP53, PALB2, and RECQL. We focus on the immunohistochemistry characteristics that are unique to each patient. Results: The mutation rates of TP53, PALB2, and RECQL in 1214 BRCA-negative young individuals were 4/1214(0.33%), 8/1214(0.66%), 2/1214(0.16%), respectively. The fact that the TP53 mutation rate was 3.49% among estrogen receptor-and/or progesterone receptor-positive, human epidermal growth factor receptor 2 (HER-2) amplification patients under the age of 35 (P<0.001) was particularly noteworthy. Conclusion: According to the findings, TP53 genetic testing should focus on women under 35 with HR-positive and HER2-positve IDC patients.
Challenges and Threats to Quality in Scholarly Knowledge Production: Views of Selected Stakeholders from 17 Countries
Authors: Starkey Jesse C. , Koerber Amy , Cummins Robert Glenn , Ardon-Dryer Karin , Eko Lyombe , Kee Kerk F. 
Published: August 2022

Abstract

This study applies Harvey and Green’s (1993) model of quality to scholarly knowledge production. Although studies of quality in higher education have been commonplace for decades, there is a gap in understanding quality in terms of research production from stakeholders’ perspectives. This study begins to fill that gap through a qualitative interview study of quality in the knowledge production process. Stakeholders in all parts of the scholarly knowledge production process, from 17 countries, are included in the data sample. Analysis of interview data extends Harvey and Green’s (1993) model into the realm of knowledge production. Definitions and challenges of quality in producing scholarly knowledge are discussed. The findings indicate a rift between the institutional view of quality and the individual perceptions of quality, suggesting the need for institutional policies that respond to stakeholders’ perceptions of quality in scholarly knowledge production and celebrate, rather than erase epistemic diversity.
Ultrasound assessment of gastric contents and volume in patients before and after endoscopic endonasal transsphenoidal surgery: a prospective observational study
Authors: Jia Haitao , He Ertao , Hao Wei , Li Yanli , Liu Wei , Chen Xiaoxia , Jia Yanfei , Wang Yingbin 
Published: August 2022

Abstract
Surgical procedures may affect the changes in gastric contents and volume, resulting in a potential risk of pulmonary aspiration. We aimed to assess the differences in preoperative and postoperative gastric contents and volume in patients undergoing endoscopic endonasal transsphenoidal surgery using ultrasound and determine the potential factors associated with intraoperative volume changes. This prospective study enrolled 71 adult patients diagnosed with pituitary adenoma. Semi-quantitative (Perlas score: grade 0, 1, or 2) and quantitative (cross-sectional area, CSA) ultrasound scans of the gastric antrum were performed before anaesthetic induction and postoperatively in semirecumbent and semirecumbent-right lateral positions. The postoperative median (interquartile [range]) antral CSA in both positions were 3.5 cm2 (3.3–3.7 [2.9–12.1]) and 3.7 cm2 (3.4–4.6 [2.9–26.6]), significantly higher than the preoperative values of 3.3 cm2 (3.1–3.4 [2.7–3.9]) and 3.4 cm2 (3.2–3.7 [2.8–5.7]), respectively (P = 0.001). The postoperative estimated gastric volume was 20.2 ml (2.2–42.7 [0–316.7]), significantly larger than the preoperative value of 14.5 ml (0–32.6 [0–66.4]) (P = 0.001). Seven (9.9%) patients showed significant volume changes, from preoperative grade 0 to postoperative grade 2 (estimated volume > 1.5 ml.kg− 1) (P = 0.02). Logistic regression analysis revealed that gastroesophageal reflux, intraoperative irrigation volume, and anaesthesia duration were independent risk factors for significant intraoperative volume changes (P<0.05). Our results show that significant change in gastric volume was presented in some patients because of the special surgical procedures and comorbidities. Anesthesiologists could use antral ultrasonography to prevent this potential risk of aspiration in patients after transsphenoidal procedures.
Analysis and verification of the conserved MYB binding element in the DFR promoter in Compositae
Authors: guo jialei , li fengzhen , shi guomin , zhao weimin , he tao 
Published: August 2022

Abstract
Anthocyanins are ubiquitous in Compositae and MYB regulates the expression of DFR and plays an important role in anthocyanin synthesis. Here, the regulation pathway that MYB protein of subgroup 6 in Compositae promotes dihydroflavonol reductase (DFR) expression was analyzed and verified by yeast one-hybrid experiment in Saussurea medusa. The results of the branch model and site model analysis revealed that MYB gene underwent purification selection, and the motif of bHLH protein [DE]Lx(2)[RK]x(3)Lx(6)Lx(3))R and anthocyanin-related motif ANDV underwent strong purification selection during evolution. DFR promoter analysis showed that there are MYB binding site (GAGTTGAATGG) and bHLH binding site (CANNTG) at the sense strand of 84–116 nucleotide residues from the start codon, and the two motifs are separated by 9–10 nucleotide residues, and this rule exists in DFR promoters of many Compositae plants. Yeast one-hybrid experiment proved that SmMYB1 can activate the promoter of SmDFR. Our results provide a reference for further functional studyof DFR gene in Compositae.
Delayed cardiac tamponade in atrial fibrillation patients with left atrial appendage closure
Authors: Yuan Mingyuan , Ning zhongping , Huan Qiang , Hao Shuwen , Wang Saihua , Zhu Luoning , Li Xingming , zhao zhihong 
Published: August 2022

Abstract
Background: We sought to investigate the relationship of delayed cardiac tamponade (CT) after left atrial appendage closure (LAAC) in patients with atrial fibrillation (AF) and identify the adjacent anatomical structures. Methods: This retrospective and cross‐sectional study enrolled AF patients with LAAC complicated by delayed CT with concurrent emergency pericardiocentesis drainage who were seen at Zhoupu Hospital affiliated with the Shanghai University of Medicine and Health Sciences from August 2016 to June 2021. The mean follow-up time was 16 ± 12 months, and clinical data, including the relationship between the left atrial appendage and pulmonary artery and the vein anatomy revealed left atrium computed tomography angiography (CTA) before and after LAAC, were retrospectively analyzed. Results: Thirteen patients (mean age, 72.1 ± 8.3 years; seven men) in whom delayed CT was treated by pericardiocentesis and drainage after LAAC, including six patients with LAAC simultaneous cryoablation, were enrolled. Eight LAAs were of the cauliflower type, and five were of the chicken wing type. The seal plate diameter of the lobe-and-disc devices was 29.5 ± 2.8 mm. Ten patients with cardiac computed tomography angiography images were reviewed: the occluder was attached to a pulmonary artery in eight patients, to the left superior pulmonary vein only in one patient, and to the pulmonary artery and left superior pulmonary vein in one patient. One patient died 2 days after LAAC, and other 12 patients had a good prognosis. Conclusions: The anatomic relationship of the left atrial appendage, pulmonary artery, and left superior pulmonary vein was related to delayed CT after LAAC; the larger occluder and its anchor hook structure facilitated the occurrence of delayed CT.
HMMR Promotes Prostate Cancer Proliferation and Metastasis via AURKA/mTORC2/E2F1 Positive Feedback Loop
Authors: Guo Kaixuan , Liu Cheng , Shi Juanyi , Lai Cong , Gao Ze , Luo Jiawen , Li Zhuohang , Tang Zhuang , Li Kuiqing , Xu Kewei 
Published: August 2022

Abstract
Although dysregulated HMMR is linked to prostate cancer (PCa) prognosis, the precise mechanisms remain unclear. Here, we sought to elucidate the roles of HMMR in PCa progression as well as underlying mechanisms. Herein, we found that upregulated of HMMR frequently occurred in PCa samples and was corrected with poor prognosis. Additionally, HMMR significantly promoted PCa proliferation and metastasis through gain- and loss-of function approaches in vitro and in vivo. Mechanistically, HMMR interacted with AURKA and elevated AURKA protein level through inhibiting ubiquitination-mediated degradation, which subsequently activated mTORC2/AKT pathway to ensure the reinforcement of PCa progression. Moreover, upregulated of E2F1 caused from sustained activating mTORC2/AKT pathway in turn function as transcription factor to promote HMMR transcription, thereby forming a positive feedback loop to trigger PCa progression. Importantly, administration of the mTOR inhibitor remarkably antagonized HMMR-mediated PCa progression in vivo. In summary, we not only reveal a novel post-translation mechanism mediated by HMMR involved in AURKA regulation, but also describe a positive feedback loop which contributes to PCa deterioration, suggesting HMMR may serve as a potential promising therapeutic target in PCa.
Effects of Maternal Factors on Fetal Aneuploidy and Reliability of Screening: A Cohort Study Based on 12,186 Karyotype Reports
Authors: Wei Lun , Zhang Jiakai , Shi Ningxian , Luo Chao , Bo Le , Lu Xuanping , Gao Shasha , Mao Caiping 
Published: August 2022

Abstract
Objective Retrospective analysis of maternal risk factors for fetal aneuploidy and evaluation of the clinical value of prenatal screening.Methods The information of pregnant women was collected, and the OR value, authenticity index and prediction value index were calculated.Results A total of 12,186 analysable karyotype reports were collected, and 372 cases(3.05%) of fetal aneuploidy were found, including T21 161 cases(1.32%), T18 81 cases(0.66%), T13 41 cases(0.34%), and SCAs 89 cases(0.73%). Maternal age <20 years old has the highest OR(6.65), followed by ≥40(3.59) and 35-39(2.48). History of fetal malformation has the highest OR(35.94), followed by IVF-ET(17.04) and RSA(13.08). The sensitivity of the preliminary screening was 73.24%, and the NPV was 98.23%. The TPR of NIPT was 100.00%, and the PPV for T21, T18, T13, and SCAs was 89.92%, 69.77%, 53.49%, and 43.24%. The reliability of NIPT and gestational age(0.81) are positively correlated, while had a negative correlation with maternal age(1.12) and the history of IVF-ET.Conclusion Our results support the correlation between maternal risk factors and fetal aneuploidy & reliability of screening. The above conclusions provide a reliable theoretical basis for developing prenatal screening strategies and improving reproductive health.
Do Aid for Trade Flows Help Reduce the Shadow Economy in Recipient Countries?
Authors: GNANGNON Sèna Kimm 
Published: August 2022

Abstract

The present analysis has assessed the effect of Aid for Trade (AfT) flows on the shadow economy using an unbalanced panel dataset of 106 countries over the period from 2002 to 2015. Empirical results obtained by means of the two-step system generalized method of moments, show that higher AfT flows are associated with a fall in the size of the shadow economy, with less developed countries experiencing a greater negative effect of AfT flows on the shadow economy than relatively advanced countries among recipient countries of AfT flows. AfT interventions reduce the size of the shadow economy in countries that face high trade costs as well as in those that experience a depreciation of the real exchange rate. Finally, AfT interventions reduce the size of the shadow economy in countries that improve economic sophistication.
High intensity interval training protects the heart against acute myocardial infarction through SDF-1a, CXCR4 receptors and c-kit levels
Authors: Bapiran Mohsen , Rajabi Hamid , Nasirinezhad Farinaz , Ramezani Fatemeh , Ghanimati Reza , Ramez Maral 
Published: August 2022

Abstract
Background: One of the best and most effective applied and tolerable approaches for cardioprotecion is the regular exercise. In situation of exercise activity and even cardiac ischemic injury, the activity of the myocardial stem cells and their recruiting factors are changed so that contribute the adaptation and repairment of the myocardium. The aim of this study was to investigate the effect of myocardial preconditioning with high intensive interval training on SDF-1a myocardial levels, CXCR4 receptors and c-kit after acute myocardial infarction in male rats. Methods: 20 male Wistar rats (8 week old ,weight 234.8 ± 5.7 g) were randomly divided into 4 groups of control (C), training (T), myocardial infraction (MI) and training+ myocardial infraction (T+MI). The training groups performed two weeks of high intensity interval training in four sections. Each section included two or three days of practice sessions and two sessions each per a day. The number or intensity of the intervals increased in each section. SDF-1, CXCR4 and C-Kit proteins were measured by the Western blot method in the myocardial tissue and myocardial injury enzymes (CK, LDH, troponin T) were measured in serum.Results: The results of this study showed that that SDF-1, CXCR4 and C-Kit had a significant increase after two weeks of high intensity interval training and myocardial infraction. Also, serum enzyme measurements showed a positive effect of exercise, so that in the myocardium injury enzymes significantly increased in the myocardial infarction group compared with the other three groups, training and training- myocardial infarction (P<0.001). As well as, there was a significant difference between the groups of training -myocardial infarction in all of the enzymes of the myocardium injury compared to the control and training groups. Conclusions: Even short terms of high intensity interval training can increase the levels of proteins SDF1-a, CXCR4 and C-Kit in order to cardioprotection against myocardial injury through recruitment stem cells.
Consequences of COVID-19 Related Lockdowns and Reopenings on Emergency Hospitalizations in Pediatric Patients in Denmark during 2020-2021
Authors: Al-Jwadi Rada Faris , Mills Elisabeth Helen Anna , Torp-Pedersen Christian , Andersen Mikkel Porsborg , Jørgensen Inger Merete 
Published: August 2022

Abstract
Purpose
There is a considerable burden of children being hospitalized due to infectious diseases worldwide. The COVID-19 pandemic provided a unique opportunity to examine effects of worldwide efforts to control spread of infection. We aimed to investigate overall age-specific hospitalizations due to viral and bacterial infections and diseases triggered by RTIs during and after lockdown.
Methods
This nationwide register-based observational study included children from 29 days to 17 years old hospitalized in all Danish pediatric emergency departments during the years 2015–2021. Main outcomes were ICD-10 diagnoses for infectious diseases and infection triggered illnesses. Fluctuations in hospitalization events were explored using figures with weekly events per 100,000.
Results
Total events followed a predictable pattern during 2015–2019. In 2020–2021 there was a drop in hospital encounters after lockdowns and surge after reopenings. In 2021, there was a surge of hospital encounters in the late summer due to Respiratory Syncytial virus infections and Asthmatic Bronchitis mostly in infants from 28 days-2 years. For the infectious diseases there was a dramatic decrease in events after lockdowns and immediate increase in cases that followed the same pattern of previous years after reopenings. Bacterial infections, like urinary tract infections, sepsis and meningitis followed a steady pattern throughout all calendar-years.
Conclusions
Nationwide efforts to minimize infectious disease spread like lockdowns have a preventative effect but reopenings/reunions result in surges of infectious diseases. This might be due to children not getting immunized steadily thereby increasing the pool of possible hosts for potential viral infections.
Understanding the tonifying and the detoxifying properties of Chinese medicines from their impacts on gut microbiota and host metabolism: a case study with four medicinal herbs in experimental colitis rat model
Authors: Li Ting , Gao Xuejiao , Yan Zhixiang , Wai Tai-Seng , Yang Wei , Chen Junru , Yan Ru 
Published: August 2022

Abstract
Background: Chinese medicines (CMs) have emerged as an alternative therapy for ulcerative colitis through reinforcing the vital qi and/or eliminating the pathogenic factors according to the traditional Chinese medicinal theory. Presystemic interactions of CMs with gut microbiota and the associated host metabolic network shift are believed to be essential to achieve their holistic health benefits in traditional oral application. Methods: This study first employed 16S rDNA-based microbial profiling and mass spectrometry-based urinary metabolomics to simultaneously evaluate single CMs frequently prescribed as main constituent herbs for alleviating UC, the tonic ginseng and Astragali Radix (AR) and the detoxifying Scutellaria Radix (SR) and Rhubarb, on a dextran sodium sulfate (DSS)-induced colitis rat model, with aims to understanding the tonifying or detoxifying properties of CMs through clinical phenotypes, the common features and herb-specific signatures in gut microbial alterations and the associated host metabolic shifts. Colitis was induced in rats receiving 5% DSS for consecutive 7 days. Control group received water alone. Herbal groups received 5% DSS and respective herbal preparation by gavage once daily. Body weight, stool consistency, and rectal bleeding were recorded daily. Feces and urine were freshly collected at multiple time points. On day 7, blood and colon tissues were collected to determine anti-/pro-inflammatory cytokines levels, colonic myeloperoxidase activity, and histopathologic alterations. Results: Gut microbiome was more prone to herb intervention than metabolome and displayed increasing associations with metabolic dynamics. Although both the tonic and the detoxifying herbs alleviated colitis and caused some similar changes in DSS-induced microbiome and metabolome disturbance, the tonic herbs were more effective and shared more common microbial and metabolic signatures. The detoxifying herbs elicited herb-specific changes. Rhubarb uniquely affected phenylalanine metabolism and established high correlations between Akkermansia muciniphila and Parasutterella and hydroxyphenylacetylglycine and phenylbutyrylglycine, while SR caused significant elevation of steroidal glucuronides dehydropregnenolone glucuronide and estriol glucuronide, both displaying exclusive correlations with genus Acetatifactor. Conclusions: Both tonic and detoxifying herbs tested ameliorated experimental colitis and elicited alternative microbial and host metabolic reprogramming. The findings highlight the importance of presystemic interactions with gut microbiota to host metabolic shifts and promote modern translation of tonifying and detoxifying properties of CMs.
Allelic Prevalence and Geographic Distribution of Cerebrotendinous Xanthomatosis
Authors: Pramparo Tiziano , Steiner Robert D. , Rodems Steve , Jenkinson Celia 
Published: August 2022

Abstract
Background: Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement. CTX is likely underdiagnosed, and prevalence estimates based on case diagnosis are probably inaccurate. Large population-based genomic databases are a valuable resource to estimate prevalence of rare recessive diseases as an orthogonal unbiased approach building upon traditional epidemiological studies. Methods: We leveraged the Hardy-Weinberg principle and allele frequencies from gnomAD to calculate CTX prevalence. ClinVar and HGMD were used to identify high-confidence pathogenic missense variants and to calculate a disease-specific cutoff. Variant pathogenicity was also assessed by the VarSome implementation of the ACMG/AMP algorithm and the REVEL in silico predictor. Results: CTX prevalence estimates were highest in Asians (1:44,407-93,084) and lowest in the Finnish population (1:3,388,767). Intermediate estimates were found in Europeans, Americans, and Africans/African Americans (1:70,795-233,597). The REVEL-predicted pathogenic variants accounted for a greater increase in prevalence estimates for Europeans, Americans, and Africans/African Americans compared with Asians. We identified the most frequent alleles designated pathogenic in ClinVar (p.Gly472Ala, p.Arg395Cys), labeled pathogenic based on sequence consequence (p.Met1?), and predicted to be pathogenic by REVEL (p.Met383Lys, p.Arg448His) across populations. Also, we provide a prospective geographic map of estimated disease distribution based on CYP27A1 variation queries performed by healthcare providers from selected specialties. Conclusions: Prevalence estimates calculated herein support and expand upon existing evidence indicating underdiagnosis of CTX, suggesting that improved detection strategies are needed. Increased awareness of CTX is important for early diagnosis, which is essential for patients as early treatment significantly slows or prevents disease progression.
Systemic inhibition of 5-lipoxygenase by MK-886 exacerbates apical periodontitis bone loss in a mouse model
Authors: Petean Igor Bassi Ferreira , Sousa Alice Corrêa Silva , Silva Raquel Assed Bezerra , Lucisano Marília Pacífico , Silva Léa Assed Bezerra , Castro Guilherme Piedade Assed , Sousa-Neto Manoel Damião , Faccioli Lúcia Helena , Paula-Silva Francisco Wanderley Garcia 
Published: August 2022

Abstract
Background: To investigate if 5-LO selective inhibitor (MK-886) could be used for systemic treatment of experimentally induced apical periodontitis in a mouse model. Methods: Twenty-four C57BL / 6 mice were used. After coronal opening, a solution containing E. coli LPS (1.0µg / µl) was inoculated into the root canals of the lower and upper right first molars (n= 72 teeth). After 30 days apical periodontitis was established, and the animals were treated with MK-886 (5 mg / kg), a 5-LO inhibitor, for 7 and 14 days. The tissues were removed for histopathological and histometric analyses, evaluation of osteoclast number and gene expression for RANK (Tnfrsf11a), RANKL (Tnfsf11), OPG (Tnfrsf11b), TRAP (Acp5), matrix metalloproteinase-9 (Mmp9), cathepsin K (Ctsk) and calcitonin receptor (Calcr). Statistical data analysis was performed using Kruskal Wallis followed by Dunn's tests (α = 0.05). Results: Administration of MK-886 for 7 days exerted no effect on apical periodontitis expansion compared to LPS inoculation without treatment (p = 0.3549), while treatment for 14 days exacerbated bone loss (p < 0.0001). Administration of MK-886 enhanced osteoclastogenesis signaling and osteoclast formation within 7 days (p = 0.0005), but no effect at 14 days (p > 0.9999). After 7 days of treatment, MK-886 induced mRNA expression for Acp5 (p = 0.0001), Calcr (p = 0.0003), Mmp9 (p = 0.0005) and Ctsk (p = 0.0008), however no effect in those gene expression was observed after 14 days (p > 0.05). Conclusion: Systemic treatment with MK-886 exacerbated LPS-induced apical periodontitis in a mouse model.