bluuebunny/crossref_metadata_2025_split huggingface dataset:
Meta-analysis of extracorporeal membrane oxygenation in combination with intra-aortic balloon pump vs. extracorporeal membrane oxygenation only in patients with cardiogenic shock due to acute myocardial infarction
Authors: Meertens Max M. , Tichelbäcker Tobias , Macherey-Meyer Sascha , Heyne Sebastian , Braumann Simon , Nießen Stephan F. , Baldus Stephan , Adler Christoph , Lee Samuel 
Published: January 2023

BackgroundIncidence and mortality of cardiogenic shock (CS) in patients with acute myocardial infarction (AMI) remain high despite substantial therapy improvements in acute percutaneous coronary intervention over the last decades. Unloading the left ventricle in patients with Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) can be performed by using an intra-aortic balloon pumps’ (IABP) afterload reduction, which might be especially beneficial in AMI patients with CS.ObjectiveThe objective of this meta-analysis was to assess the effect of VA-ECMO + IABP vs. VA-ECMO treatment on the mortality of patients with CS due to AMI.MethodsA systematic literature search was performed using EMBASE, COCHRANE, and MEDLINE databases. Studies comparing the effect of VA-ECMO + IABP vs. VA-ECMO on mortality of patients with AMI were included. Meta-analyses were performed to analyze the effect of the chosen treatment on 30-day/in-hospital mortality.ResultsTwelve studies were identified by the literature search, including a total of 5,063 patients, 81.5% were male and the mean age was 65.9 years. One thousand one hundred and thirty-six patients received treatment with VA-ECMO in combination with IABP and 2,964 patients received VA-ECMO treatment only. The performed meta-analysis showed decreased mortality at 30-days/in-hospital after VA-ECMO + IABP compared to VA-ECMO only for patients with cardiogenic shock after AMI (OR 0.36, 95% CI 0.30–0.44, P≤0.001). Combination of VA-ECMO + IABP was associated with higher rates of weaning success (OR 0.29, 95% CI 0.16–0.53, P &lt; 0.001) without an increase of vascular access complications (OR 0.85, 95% CI 0.35–2.08, P = 0.72).ConclusionIn this meta-analysis, combination therapy of VA-ECMO + IABP was superior to VA-ECMO only therapy in patients with CS due to AMI. In the absence of randomized data, these results are hypothesis generating only.
Novel HYDIN variants associated with male infertility in two Chinese families
Authors: Yu Hui , Shi Xiao , Shao Zhongmei , Geng Hao , Guo Senzhao , Li Kuokuo , Gu Meng , Xu Chuan , Gao Yang , Tan Qing , Duan Zongliu , Wu Huan , Hua Rong , Guo Rui , Wei Zhaolian , Zhou Ping , Cao Yunxia , He Xiaojin , Li Liang , Zhang Xiaoping , Lv Mingrong 
Published: January 2023

IntroductionInfertility is a major disease affecting human life and health, among which male factors account for about half. Asthenoteratozoospermia accounts for the majority of male infertility. High-throughput sequencing techniques have identified numerous variants in genes responsible for asthenoteratozoospermia; however, its etiology still needs to be studied.MethodIn this study, we performed whole-exome sequencing on samples from 375 patients with asthenoteratozoospermia and identified two HYDIN compound heterozygous variants, a primary ciliary dyskinesia (PCD)-associated gene, in two unrelated subjects. H&amp;E staining, SEM were employed to analyze the varies on sperm of patients, further, TEM was employed to determine the ultrastructure defects. And westernblot and immunostaining were chose to evaluate the variation of structural protein. ICSI was applied to assist the mutational patient to achieve offspring.ResultWe identified two HYDIN compound heterozygous variants. Patient AY078 had novel compound heterozygous splice variants (c.5969-2A&gt;G, c.6316+1G&gt;A), altering the consensus splice acceptor site of HYDIN. He was diagnosed with male infertility and PCD, presenting with decreased sperm progressive motility and morphological abnormalities, and bronchial dilatation in the inferior lobe. Compared to the fertile control, HYDIN levels, acrosome and centrosome markers (ACTL7A, ACROSIN, PLCζ1, and Centrin1), and flagella components (TOMM20, SEPT4, SPEF2, SPAG6, and RSPHs) were significantly reduced in HYDIN-deficient patients. Using intracytoplasmic sperm injection (ICSI), the patient successfully achieved clinical pregnancy. AY079 had deleterious compound heterozygous missense variants, c.9507C&gt;G (p. Asn3169Lys) and c.14081G&gt;A (p. Arg4694His), presenting with infertility; however, semen samples and PCD examination were unavailable.DiscussionOur findings provide the first evidence that the loss of HYDIN function causes asthenoteratozoospermia presenting with various defects in the flagella structure and the disassembly of the acrosome and neck. Additionally, ICSI could rescue this failure of insemination caused by immobile and malformed sperm induced by HYDIN deficiency.
Single-cell RNA-seq reveals cellular heterogeneity from deep fascia in patients with acute compartment syndrome
Authors: Wang Tao , Long Yubin , Ma Lijie , Dong Qi , Li Yiran , Guo Junfei , Jin Lin , Di Luqin , Zhang Yingze , Wang Ling , Hou Zhiyong 
Published: January 2023

IntroductionHigh stress in the compartment surrounded by the deep fascia can cause acute compartment syndrome (ACS) that may result in necrosis of the limbs. The study aims to investigate the cellular heterogeneity of the deep fascia in ACS patients by single-cell RNA sequencing (scRNA-seq).MethodsWe collected deep fascia samples from patients with ACS (high-stress group, HG, n=3) and patients receiving thigh amputation due to osteosarcoma (normal-stress group, NG, n=3). We utilized ultrasound and scanning electron microscopy to observe the morphologic change of the deep fascia, used multiplex staining and multispectral imaging to explore immune cell infiltration, and applied scRNA-seq to investigate the cellular heterogeneity of the deep fascia and to identify differentially expressed genes.ResultsNotably, we identified GZMK+interferon-act CD4 central memory T cells as a specific high-stress compartment subcluster expressing interferon-related genes. Additionally, the changes in the proportions of inflammation-related subclusters, such as the increased proportion of M2 macrophages and decreased proportion of M1 macrophages, may play crucial roles in the balance of pro-inflammatory and anti-inflammatory in the development of ACS. Furthermore, we found that heat shock protein genes were highly expressed but metal ion-related genes (S100 family and metallothionein family) were down-regulated in various subpopulations under high stress.ConclusionsWe identified a high stress-specific subcluster and variations in immune cells and fibroblast subclusters, as well as their differentially expressed genes, in ACS patients. Our findings reveal the functions of the deep fascia in the pathophysiology of ACS, providing new approaches for its treatment and prevention.
Patients with IBD have a more cautious attitude towards COVID-19 vaccination
Authors: Hu Shurong , Liu Jingwen , Li Shuyan , Wu Qiangqiang , Wang Xiaoying , Xu Dingting , Chen Yan 
Published: January 2023

BackgroundTo understand the awareness of COVID-19 vaccine, the willingness to vaccinate and the influencing factors of willingness to vaccinate in inflammatory bowel disease (IBD) patients.MethodsThe online questionnaire was distributed to conduct a survey to analyze and evaluate the willingness, awareness and trust in vaccines of IBD patients. Bivariate analyses and logistic regression models were used to analysis influencing factors.ResultsWe sent the questionnaire to the WeChat group for patient management and 304 patients responded, out of which 16 respondents had to be excluded and 288 respondents were included for the analysis. Among them, 209 patients vaccinated with COVID-19 vaccine. Among the non-vaccinated 79 patients, the main reasons for their concerns were afraid of vaccination aggravating IBD and fear of adverse effects. Our results showed that IBD patients with long disease duration were more willing to receive COVID-19 vaccination (P&lt;0.05). We also observed that a high perception of benefits and cues to action to receive the vaccine were the two most important constructs affecting a definite intention for COVID-19 vaccination (P&lt;0.05).ConclusionsPatients with IBD have a more cautious attitude towards COVID-19 vaccination, which may lead to a higher rate of vaccine hesitancy. Further efforts should be made to protect patients with IBD from COVID-19 infections and achieve adequate vaccination coverage.
The genetic and epigenetic regulation of CD55 and its pathway analysis in colon cancer
Authors: Liu Jiawei , Fu Ning , Yang Zhenbang , Li Ang , Wu Hongjiao , Jin Ye , Song Qinqin , Ji Shanshan , Xu Hongxue , Zhang Zhi , Zhang Xuemei 
Published: January 2023

BackgroundCD55 plays an important role in the development of colon cancer. This study aims to evaluate the expression of CD55 in colon cancer and discover how it is regulated by transcriptional factors and miRNA.MethodsThe expression of CD55 was explored by TIMER2.0, UALCAN, and Human Protein Atlas (HPA) databases. TRANSFAC and Contra v3 were used to predict the potential binding sites of transcription factors in the CD55 promoter. TargetScan and starBase v2.0 were used to predict the potential binding ability of miRNAs to the 3′ untranslated region (3′UTR) of CD55. SurvivalMeth was used to explore the differentially methylated sites in the CD55 promoter. Western blotting was used to detect the expression of TFCP2 and CD55. Dual-luciferase reporter assay and chromatin immunoprecipitation (ChIP) assay were performed to determine the targeting relationship of TFCP2, NF-κB, or miR-27a-3p with CD55. CD55-related genes were explored by constructing a protein–protein interaction (PPI) network and performing pathway analysis by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG).ResultsCD55 was highly expressed in colon cancer tissues. The mRNA and protein expression levels of TFCP2 were reduced by si-TFCP2. NF-κB mRNA was obviously reduced by NF-κB inhibitor and increased by NF-κB activator. CD55 protein was also inhibited by miR-27a-3p. Dual-luciferase reporter assays showed that after knocking down TFCP2 or inhibiting NF-κB, the promoter activity of CD55 was decreased by 21% and 70%, respectively; after activating NF-κB, the promoter activity of CD55 increased by 2.3 times. As TFCP2 or NF-κB binding site was mutated, the transcriptional activity of CD55 was significantly decreased. ChIP assay showed that TFCP2 and NF-κB combined to the promoter of CD55. The luciferase activity of CD55 3′UTR decreased after being co-transfected with miR-27a-3p mimics and increased by miR-27a-3p antagomir. As the miR-27a-3p binding site was mutated, we did not find any significant effect of miR-27a-3p on reporter activity. PPI network assay revealed a set of CD55-related genes, which included CFP, CFB, C4A, and C4B. GO and KEGG analyses revealed that the target genes occur more frequently in immune-related pathways.ConclusionOur results indicated that CD55 is regulated by TFCP2, NF-κB, miR-27a-3p, and several immune-related genes, which in turn affects colon cancer.
The imbalance in the relationship between inflammatory and regulatory cytokines during gestational toxoplasmosis can be harmful to fetuses: A systematic review
Authors: Santos Priscilla Vilela dos , Toledo Débora Nonato Miranda de , de Souza Débora Maria Soares , Menezes Tatiana Prata , Perucci Luiza Oliveira , Silva Zolder Marinho , Teixeira Daniela Caldas , Vieira Ed Wilson Rodrigues , Andrade-Neto Valter Ferreira de , Guimarães Nathalia Sernizon , Talvani André 
Published: January 2023

ObjectiveTo evaluate the available information on inflammatory and regulatory plasma mediators in pregnant women (PW) diagnosed with toxoplasmosis. Source: The PubMed, Embase, Scopus, and Lilacs databases were evaluated until October 2022. Study eligibility criteria: This review was carried out following the PRISMA and registered on the PROSPERO platform (CRD42020203951). Studies that reported inflammatory mediators in PW with toxoplasmosis were considered.Evaluation methodsAfter excluding duplicate articles, two authors independently carried out the process of title and abstract exclusion, and a third resolved disagreements when necessary. The full text was evaluated to detect related articles. The extraction table was built from the following data: Author, year of publication, journal name and impact factors, country, study design, number of gestations and maternal age (years), gestational period, diagnosis of toxoplasmosis, levels of inflammatory markers, laboratory tests, and clinical significance. Methodological quality was assessed using Joanna Briggs Institute tools.ResultsOf the 1,024 studies reported, only eight were included. Of the 868 PW included in this review, 20.2% were IgM+/IgG- and 50.8% were IgM-/IgG+ to T. gondii, and 29.0% uninfected. Infected PW presented higher plasma levels ofIL-5, IL-6, IL-8, IL-17, CCL5, and IL-10. Regarding the methodological quality, four studies obtained high quality. Data from this review pointed out the maintenance of the inflammatory pattern during pregnancy with a closely related to the parasite.ConclusionImmune status in PW defined the course of the T. gondii infection, where the equilibrium between inflammatory and regulatory cytokines mitigated the harmful placenta and fetus effects.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, identifier CRD420203951.
Severe retinal hemorrhages at various levels with a serous retinal detachment in a pediatric patient with aplastic anemia–A case report
Authors: Jiang Xiaoshuang , Shen Mengxi , Liang Licong , Rosenfeld Philip J. , Lu Fang 
Published: January 2023

BackgroundAplastic anemia can cause ophthalmic abnormalities in patients. Vision loss in a child with aplastic anemia due to massive retinal hemorrhages at various levels is rare.Case presentationA pediatric patient with aplastic anemia presented with retinal hemorrhages at multiple levels along with a serous retinal detachment in both eyes and subsequent retinal changes after pars plana vitrectomy.ConclusionAnemia and thrombocytopenia in aplastic anemia could cause severe retinal hemorrhages and result in retinal atrophy and retinal edema. Vitrectomy can be performed to remove vitreous hemorrhage, but risk factors for retinal atrophy and edema need further investigation.
Hand grip strength should be normalized by weight not height for eliminating the influence of individual differences: Findings from a cross-sectional study of 1,511 healthy undergraduates
Authors: Xu Taojin , Li Xu , Wang Dingfang , Zhang Yi , Zhang Qinghua , Yan Jianyin , Jiang Junhao , Liu Wenbin , Chen Jing 
Published: January 2023

BackgroundHand grip strength (HGS) is a fast, useful, and inexpensive outcome predictor of nutritional status and muscular function assessment. Numerous demographic and anthropometric factors were reported to be associated with HGS, while which one or several factors produce greater variations in HGS has not been discussed in detail. This is important for answering how should HGS be normalized for eliminating the influence of individual differences in clinical practice.AimsTo compare the contribution of age, sex, height, weight, and forearm circumference (FCF) to variations in HGS based on a large-scale sample.MethodsWe enrolled 1,511 healthy undergraduate students aged 18–23 years. Age, weight, height, and sex were obtained. HGS was measured using a digital hand dynamometer, and FCF was measured at the point of greatest circumference using a soft ruler in both hands. Pearson’s or Spearman’s correlation coefficients were calculated with data of women and men separated and mixed for comparison. Partial correlation analysis and multivariate linear regression were used to compare the effect of variables on HGS.ResultsAnalysis results confirmed the correlates of higher HGS include higher height, heavier weight, being men and dominant hand, and larger FCF. The correlation between HGS and FCF was the highest, and the bivariate correlation coefficient between weight and HGS was largerata of women and men were mixed, than that between height and HGS. When data of women and men were mixed, there were moderate correlations between HGS and height and weight (r = 0.633∼0.682). However, when data were separated, there were weak correlations (r = 0.246∼0.391). Notably, partial correlation analysis revealed no significant correlation between height and HGS after eliminating the weight effect, while the correlation between weight and HGS was still significant after eliminating the height effect. Multivariate linear regression analyses revealed sex was the most significant contributor to the variation in HGS (Beta = –0.541 and –0.527), followed by weight (Beta = 0.243 and 0.261) and height (Beta = 0.102 and 0.103).ConclusionHGS and FCF reference values of healthy college students were provided. Weight was more correlate with hand grip strength, at least among the healthy undergraduates.Clinical trial registrationhttp://www.chictr.org.cn/showproj.aspx?proj=165914, identifier ChiCTR2200058586.
Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features
Authors: Gu Hao , Mou Wenjun , Chen Zhenping , Xie Xingjuan , Yao Jiafeng , Zhang Rui , Wu Runhui , Gui Jingang 
Published: January 2023

BackgroundDiGeorge Syndrome (DGS) is a rare disease associated with 22q11.2 chromosomal microdeletion, also known as a velocardiofacial syndrome, based on the frequent involvements of the palate, facial, and heart problems. Hematologic autoimmunity is rare in DGS but presents with a refractory course and poor prognosis. Herein, we report a case of partial DGS in a patient with refractory immune cytopenia and autoimmune lymphoproliferative syndrome (ALPS)-like manifestations.Case descriptionA 10-year-old boy with growth retardation presented initially with a ventricular septal defect at 7 months old, which had been repaired soon after. The patient suffered from thrombocytopenia and progressed into chronic refractory immune thrombocytopenia (ITP) at 30 months old. One year later, the patient developed multilineage cytopenias including thrombocytopenia, neutropenia, and anemia. First-line treatment of ITP, like high-dose dexamethasone and intravenous immunoglobulin, had little or short-term effect on controlling symptoms. Whole-exome sequencing revealed the presence of a de novo heterozygous 2.520 Mb deletion on chromosome 22q11.21. Moreover, decreased proportion of naive T cells and elevated double-negative T cells were found. The patient was given sirolimus therapy (1.5 mg/m2, actual blood concentration range: 4.0–5.2 ng/ml) without adding other immunosuppressive agents. The whole blood cell count was gradually restored after a month, and the disease severity was soothed with less frequency of infections and bleeding events. Decreased spleen size and restrained lymph node expansion were achieved after 3-month sirolimus monotherapy.ConclusionsThis case is the first description on the efficacy of sirolimus monotherapy to treat refractory multilineage cytopenias of DGS presented with ALPS-like features.
Growth of a cohort of very low birth weight and preterm infants born at a single tertiary health care center in South Africa
Authors: Michaelis Isabel Alexandra , Krägeloh-Mann Ingeborg , Mazinu Mikateko , Jordaan Esme 
Published: January 2023

BackgroundVery low birth weight (VLBW) and extremely low birth weight (ELBW) infants are known to be at high risk of growth failure and developmental delay later in life. The majority of those infants are born in low and middle income countries.AimGrowth monitoring in a cohort of infants born with a VLBW up to 18 months corrected age was conducted in a low resource setting tertiary hospital.MethodsIn this prospective cohort study, 173 infants with a birth weight below 1,501 g admitted within their first 24 h of life were recruited and the 115 surviving until discharged were asked to follow up at 1, 3, 6, 12 and 18 months. Weight, height and head circumferences were recorded and plotted on WHO Z-score growth charts.ResultsOf the 115 discharged infants 89 were followed up at any given follow-up point (1, 3, 6, 12 and/or 18 months). By 12 months of corrected age another 15 infants had demised (13.0%). The infants' trends in weight-for-age z-scores (WAZ) for corrected age was on average below the norm up to 12 months (average estimated z-score at 12 months = −0.44; 95% CI, −0.77 to −0.11), but had reached a normal range on average at 18 months = −0.24; 95% CI, −0.65 to 0.19) with no overall difference in WAZ scores weight between males and female' infants (p &gt; 0.7). Similar results were seen for height at 12 months corrected age with height-for-age z-scores (HAZ) of the study subjects being within normal limits (−0.24; 95% CI, −0.63 to 0.14). The mean head circumference z-scores (HCZ) initially plotted below −1.5 standard deviations (S.D.), but after 6 months the z-scores were within normal limits (mean z-score at 7 months = −0.19; 95% CI, −0.45 to 0.06).ConclusionWeight gain, length and head circumferences in infants with VLBW discharged showed a catch-up growth within the first 6–18 months of corrected age, with head circumference recovering best. This confirms findings in other studies on a global scale, which may be reassuring for health systems such as those in South Africa with a high burden of children born with low birth weights.
Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
Authors: Qiao Xingxing , Wu Liping , Tang Jianjun , Xiang Rong , Fan Liangliang , Huang Hao , Chen Yaqin 
Published: January 2023

BackgroundCampomelic dysplasia (CD) is an autosomal dominant skeletal dysplasia syndrome characterized by shortness and bowing of lower extremities, and often accompanied by XY sex reversal. Heterozygous pathogenic variants of SOX9 or rearrangement involving the long arm of chromosome 17 are the causes of disease. However, evidence for pathogenesis of SOX9 haploinsufficiency is insufficient.MethodsWe enrolled a Chinese family where the fetus was diagnosed with CD. The affected fetus was selected for whole-exome sequencing to identify the pathogenic mutations in this family.ResultsAfter data filtering, a novel non-sense SOX9 variant (NM_000346.3; c.1249C &gt; T; p.Q417*) was identified as the pathogenic lesion in the fetus. Further co-segregation analysis using Sanger sequencing confirmed that this novel SOX9 mutation (c.1249C &gt; T; p.Q417*) was a de novo mutation in the affected fetus. This terminated codon mutation identified by bioinformatics was located at an evolutionarily conserved site of SOX9. The bioinformatics-based analysis predicted this variant was pathogenic and affected SOX9 transactivation activity.ConclusionCD is a rare condition, which connected with SOX9 tightly. We identified a novel heterozygous SOX9 variant (p.Q417*) in a Chinese CD family. Our study supports the putative reduced transactivation of SOX9 variants in the pathogenicity of CD.