bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Intrapericardial thrombus aspiration in early stage of pericardial thrombosis for cardiac tamponade complicating percutaneous left atrial appendage closure
Authors: Mo Bin-Feng , Wu Cheng-Qiang , Wang Qun-Shan , Li Yi-Gang 
Published: September 2022

IntroductionPericardial thrombosis that complicates pericardial bleeding is a life-threatening emergency in interventional cardiology, and surgery remains the only definitive treatment option. We report the first case of successful intrapericardial thrombus aspiration using a dedicated thrombus aspiration catheter in the early stage of pericardial thrombosis.Case reportA 76-year-old woman with non-valve atrial fibrillation underwent percutaneous left atrial appendage (LAA) closure for secondary prevention of stroke. A 24-mm Watchman device was deployed under fluoroscopic guidance. Post-deployment angiography revealed LAA perforation, which led to the rapid onset of cardiac tamponade. Emergency pericardiocentesis was performed and the deep-seated device was redeployed at a more proximal position to seal the distal perforation. Pericardial bleeding was controlled after the drainage of 400 ml of blood. However, the patient re-developed cardiac tamponade following a period of stability. The patient was diagnosed with early-stage pericardial thrombosis based on echocardiographic findings of a hypoechoic effusion in the pericardial space. Thrombus aspiration using a pigtail catheter and long sheath failed; however, we performed successful intrapericardial thrombus aspiration using a dedicated thrombus aspiration catheter. We drained 120 ml of sludge-like blood, and the patient underwent successful conservative management without surgical intervention.ConclusionThis case report highlights the potential usefulness of a percutaneous intrapericardial thrombus aspiration technique using a dedicated thrombus aspiration catheter in selected patients with early-stage pericardial thrombosis, as a less invasive alternative to cardiac surgery.
Additive effects of type 2 diabetes and metabolic syndrome on left ventricular torsion and linear deformation abnormalities during dobutamine stress echocardiography
Authors: Aboukhoudir Falah , Philouze Clothilde , Grandperrin Antoine , Nottin Stéphane , Obert Philippe 
Published: September 2022

ObjectiveThe interplay between metabolic syndrome (MS) and type 2 diabetes (T2D) on regional myocardial mechanics and the potential additional effects of their combination remain poorly understood. In this context, we evaluated left ventricular (LV) torsion and linear deformation at rest and under dobutamine (DB) stress in patients with T2D, MS or both.MethodsThirty-nine T2D patients without MS (T2D), 37 MS patients free from T2D (MS), 44 patients with both T2D and MS (T2D-MS group) and 38 healthy patients (control group) were prospectively recruited. Speckle-tracking echocardiography (STE) was conducted at rest and low dose DB to evaluate LV myocardial longitudinal (LS) as well as circumferential (CS) strain and early diastolic strain rate (LSrd, CSrd) and twist-untwist mechanics.ResultsAt rest, MS, T2D and controls presented with similar resting LS and LSrd while significant lower values were obtained in T2D-MS compared to controls. DB revealed reduced LS, LSrd, CS and CSrd in MS and T2D groups compared to controls. In T2-MS, the decline in LS and LSrd established at rest was exacerbated under DB. Stress echocardiography revealed also lower basal rotation and subsequently lower twist in MS and T2D patients compared to controls. T2D-MS showed major impairments of apical rotation and twist under DB stress, with values significantly lower compared to the 3 other groups. From stepwise multiple linear regression analysis, epicardial adipose tissue for Δ (rest to DB) LS, numbers of MS factors for Δ CS and Δ Twist emerged as major independent predictors.ConclusionThese results demonstrate synergic and additive effects of T2D and MS on LV torsion and linear deformation abnormalities in asymptomatic patients with metabolic diseases. They also highlight the usefulness of speckle tracking echocardiography under DB stress in detecting multidirectional myocardial mechanics impairments that can remain barely detectable at rest, such as in isolated T2D or MS patients.
Bioinformatic analysis and experimental validation identified DNA methylation–Related biomarkers and immune-cell infiltration of atherosclerosis
Authors: Xu Congjian , Sun Di , Wei Changmin , Chang Hao 
Published: September 2022

Background: DNA methylation is an important form of epigenetic regulation and is closely related to atherosclerosis (AS). The purpose of this study was to identify DNA methylation–related biomarkers and explore the immune-infiltrate characteristics of AS based on methylation data.Methods: DNA methylation data of 15 atherosclerotic and paired healthy tissues were obtained from Gene Expression Omnibus database. Differential methylation positions (DMPs) and differential methylation regions (DMRs) were screened by the ChAMP R package. The methylation levels of DMPs located on CpG islands of gene promoter regions were averaged. The limma R package was used to screen differentially methylated genes in the CpG islands of the promoter regions. The diagnostic values of the methylation levels were evaluated using the pROC R package. The EpiDISH algorithm was applied to quantify the infiltration levels of seven types of immune cells. Subsequently, three pairs of clinical specimens of coronary atherosclerosis with Stary’s pathological stage III were collected, and the methylation levels were detected by the methylation-specific PCR (MS-PCR) assay. Western blot was performed to detect the protein expression levels of monocyte markers.Results: A total of 110, 695 DMPs, and 918 DMRs were screened in the whole genome. Also, six genes with significant methylation differences in the CpG islands of the promoter regions were identified, including 49 DMPs. In total, three genes (GRIK2, HOXA2, and HOXA3) had delta beta greater than 0.2. The infiltration level of monocytes was significantly upregulated in AS tissues. MS-PCR assay confirmed the methylation status of the aforementioned three genes in AS samples. The Western blot results showed that the expression levels of the monocyte marker CD14 and M1-type macrophage marker CD86 were significantly increased in AS while M2-type macrophage marker protein CD206 was significantly decreased.Conclusion: This study identified potential DNA methylation–related biomarkers and revealed the role of monocytes in early AS.
Causal effects of gut microbiota on diabetic retinopathy: A Mendelian randomization study
Authors: Liu Kangcheng , Zou Jing , Fan Huimin , Hu Hanying , You Zhipeng 
Published: September 2022

BackgroundPrevious researches have implicated a vital association between gut microbiota (GM) and diabetic retinopathy (DR) based on the association of the “gut-retina” axis. But their causal relationship has not been elucidated.MethodsInstrumental variables of 211 GM taxa were obtained from genome wide association study (GWAS), and Mendelian randomization study was carried out to estimate their effects on DR risk from FinnGen GWAS (14,584 DR cases and 202,082 controls). Inverse variance weighted (IVW) is the main method to analyze causality, and MR results are verified by several sensitive analyses.ResultsAs for 211 GM taxa, IVW results confirmed that family-Christensenellaceae (P = 1.36×10-2) and family-Peptococcaceae (P = 3.13×10-2) were protective factors for DR. Genus-Ruminococcaceae_UCG_011 (P = 4.83×10-3), genus-Eubacterium_rectale_group (P = 3.44×10-2) and genus-Adlercreutzia (P = 4.82×10-2) were correlated with the risk of DR. At the phylum, class and order levels, we found no GM taxa that were causally related to DR (P&gt;0.05). Heterogeneity (P&gt;0.05) and pleiotropy (P&gt;0.05) analysis confirmed the robustness of MR results.ConclusionWe confirmed that there was a potential causal relationship between some GM taxa and DR, which highlights the association of the “gut-retina” axis and offered new insights into the GM-mediated mechanism of DR. Further explorations of their association are required and will lead to find new biomarkers for targeted prevention strategies of DR.
Serum proteomic networks associate with pre-clinical rheumatoid arthritis autoantibodies and longitudinal outcomes
Authors: O’Neil Liam J. , Meng Xiaobo , Mcfadyen Caitlin , Fritzler Marvin J. , El-Gabalawy Hani S. 
Published: September 2022

ObjectivesThe development of autoantibody directed towards citrullinated proteins (ACPA) are predictive of RA in at-risk individuals. The biological events that underpin loss of immune tolerance and progression into inflammatory arthritis are not known. We sought to identify serum proteomic alterations that drive autoantibody formation, persistence and progression into inflammatory arthritis in a cohort of first-degree relatives (FDR) of RA patients.MethodsWe studied baseline serum samples from a cohort of Indigenous FDR (n = 147) and quantified serum proteins using a 48-plex platform. Longitudinal outcomes were defined on the basis of ACPA status and progression into inflammatory arthritis (IA). K-means clustering, differential expression, and principal components analyze group differences. A co-expression module analysis was used to identify enriched networks. Random forest was used to classify ACPA positive samples, while network analysis was used to understand underlying biological processes based on protein expression.ResultsWe defined 6 proteomic clusters, with enrichment of ACPA positive samples in one of the clusters. 23 of 24 differentially expressed proteins in ACPA positive samples were upregulated. A co-expression network was enriched in ACPA positive sera and individuals who progressed into IA. Random Forest achieved an area under the curve of 0.767 to classify ACPA positive sera in a test dataset. Network analysis revealed upregulation of JAK-STAT signalling as being activated in those at highest risk to develop future IA.ConclusionsThe serum proteome provides a rich dataset to understand biological processes in ACPA seropositive individuals. A combination of serum biomarkers, including ACPA, may predict future arthritis onset in at-risk individuals.
Combined – whole blood and skin fibroblasts- transcriptomic analysis in Psoriatic Arthritis reveals molecular signatures of activity, resistance and early response to treatment
Authors: Grivas Alexandros , Grigoriou Maria , Malissovas Nikos , Sentis George , Filia Anastasia , Flouda Sofia , Katsimpri Pelagia , Verginis Panayotis , Boumpas Dimitrios T. 
Published: September 2022

BackgroundAn interplay between immune cells and resident skin and joint stromal cells is implicated in psoriatic arthritis (PsA), yet the mechanisms remain elusive with a paucity of molecular biomarkers for activity and response. Combined transcriptomic and immunophenotypic analysis of whole blood and skin fibroblasts could provide further insights.MethodsWhole blood RNA-seq was performed longitudinally in 30 subjects with PsA at the beginning, one and six months after treatment, with response defined at six months. As control groups, 10 healthy individuals and 10 subjects with rheumatoid arthritis (RA) were recruited combined with public datasets from patients with psoriasis (PsO) and systemic lupus erythematous (SLE). Differential expression analysis and weighted gene co-expression network analysis were performed to identify gene expression signatures, while deconvolution and flow cytometry to characterize the peripheral blood immune cell profile. In a subset of affected and healthy individuals, RNA-seq of skin fibroblasts was performed and subjected to CellChat analysis to identify the blood-skin fibroblast interaction network.ResultsPsA demonstrated a distinct “activity” gene signature in the peripheral blood dominated by TNF- and IFN-driven inflammation, deregulated cholesterol and fatty acid metabolism and expansion of pro-inflammatory non-classical monocytes. Comparison with the blood transcriptome of RA, PsO, and SLE revealed a “PsA-specific signature” enriched in extracellular matrix remodeling. This was further supported by the skin fibroblast gene expression profile, displaying an activated, proliferating phenotype, and by skin-blood interactome analysis revealing interactions with circulating immune cells through WNT, PDGF and immune-related semaphorins. Of note, resistance to treatment was associated with upregulation of genes involved in TGFβ signaling and angiogenesis and persistent increase of non-classical monocytes. Differentially expressed genes related to platelet activation and hippo signaling discriminated responders and non-responders as early as one month after treatment initiation.ConclusionTranscriptome analysis of peripheral blood and skin fibroblasts in PsA reveals a distinct disease activity signature and supports the involvement of skin fibroblasts through their activation and interaction with circulating immune cells. Aberrant TGFβ signaling and persistently increased non-classical monocytes characterize treatment-resistant PsA, with pro-inflammatory pathways related to platelet activation and Hippo signaling predicting early response to treatment.
Case report: Documentation of cutaneous only pemphigus vulgaris without history of mucosal lesions in North America
Authors: Baker John , Seiffert-Sinha Kristina , Sinha Animesh A. 
Published: September 2022

BackgroundPemphigus is a group of autoimmune blistering diseases including Pemphigus vulgaris (PV) and Pemphigus foliaceus (PF). These conditions exhibit lesions with mucosal or mucocutaneous (PV) or cutaneous (PF) morphology, as framed by the Desmoglein Compensation Hypothesis (DCH). However, some PV patients present with solely cutaneous disease (cPV), and growing evidence suggests the existence of a cPV subtype without any history of mucosal erosions/blisters (cPVwohm), neither of which are predicted by the DCH.MethodsParticipants were recruited from several outpatient clinical settings and patient support group meetings throughout the US. On intake, subjects provided blood samples and completed questionnaires regarding their disease status.ResultsWe report three cases of clinically and histologically confirmed cPV without history of mucosal lesions (cPVwohm). Of these patients, two do not carry the most common PV associated HLA alleles, DRB1*0402 or DQB1*0503. The same two patients also tested negative for the primary PV associated autoantibodies, anti-desmoglein 3 and anti-desmoglein 1, while in active disease status.ConclusionWe confirm the first documented individual cases of cPVwohm in North America, supporting the existence of PV patients that develop cutaneous disease without a history of mucosal lesions, challenging the fidelity of the DCH. Two of the 3 patients reported did not type for the common PV-associated HLA genes or display anti-desmoglein autoantibodies while in active disease, suggesting cPV patients may develop Pemphigus via genetic and immune mechanisms that differ from typical mucosal or mucocutaneous PV.
Case Report: Association between cyclic neutropenia and SRP54 deficiency
Authors: Erdős Melinda , Boyarchuk Oksana , Maródi László 
Published: September 2022

Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promyelocyte stage, occurring in the first months of life. Nearly all reported patients with SRP54 mutations had neutropenia without a cyclic pattern and showed a poor or no response to granulocyte colony-stimulating factor (G-CSF) therapy. We report here an 11-year-old female patient with cyclic neutropenia and recurrent heterozygous p.T117del (c.349_351del) in-frame deletion mutation in SRP54, who showed remarkable therapeutic response to G-CSF treatment. The diagnosis of cyclic pattern of neutropenia was established by acceptable standards. ELANE gene mutation was excluded by using various genetic approaches. The patient described here also had dolichocolon which has not been described before in association with SCN.
Multifrequency bioimpedance by spectroscopy vs. routine methods in the management of hydration status in peritoneal dialysis patients: A randomized control trial
Authors: Costa Fabiana Lourenço , Reis Nayrana Soares do Carmo , Reis Fabricio Moreira , Oliveira Rogério Carvalho de , Zanati Bazan Silméia Garcia , Canedo da Silva Maryanne Zilli , Martin Luis Cuadrado , Barretti Pasqual 
Published: September 2022

BackgroundOverhydration (OH) is common in peritoneal dialysis (PD) and increases the cardiovascular risk. Multifrequency bioimpedance spectroscopy (BIS) has been proposed to estimate the hydration in dialysis. Our objective was to evaluate if BIS is superior than control based on clinical assessment plus single-frequency bioimpedance (SF-BIA) on the fluid control and intermediate cardiovascular outcomes.MethodsRandomized controlled study in adult PD patients, with a 9-month follow-up, allocated into two groups: control and BIS. Data were collected from medical records. SF-BIA and BIS, laboratory exams, ambulatory blood pressure monitoring, echocardiography (ECHO), and pulse wave velocity (PWV) were evaluated. The BIS data were available to the medical team only in BIS group.Results34 patients completed the study, 17 in each group. At the endpoint the BIS group had a significant (p &lt; 0.05) greater proportion of patients with OH/extracellular water (OH/ECW%) ≤ 15% than the control (94.1% vs. 52.9%), and a lower OH mean (2.1 ± 1.6 vs. 0.9 ± 1.1 L). The control group has a significant increase in the tumor necrosis factor alpha median concentration from baseline to six [11.9 (6.0–24.1) vs. 44.7 (9.4–70.6) pg/ml] and 9 months [11.9 (6.0–24.1) vs. 39.4 (27.9–62.6) pg/ml], and in the N-terminal fragment of pro-B-type natriuretic peptide median [239 (171.5–360.5) vs. 356 (219–1,555) pg/ml]. For cardiovascular parameters, BIS group presented a significant reduction in radial PWV [7.7 (6.9–9.2) vs. 6.5 (5.5–8.4) m/s] at 9 month, while in the control presented a significant increase in mean central systolic blood pressure (BP) (106.8 ± 11.2 vs. 117.6 ± 16.5 mmHg) and in central diastolic BP (90.4 ± 9.8 vs. 103.3 ± 12.5 mmHg) at 9 months. The left ventricular mass (LVM)/body surface presented a significant reduction in the control (109.6 ± 30.8 vs. 101.2 ± 28.9 g/m2) and BIS group (107.7 ± 24.9 vs. 96.1 ± 27.0 g/m2) at 9 months.ConclusionThe results suggest BIS is superior than the clinical evaluation plus SF-BIA for the fluid control of PD patients.Clinical trial registration[https://www.ClinicalTrials.gov], identifier [RBR-10k8j3bx].
The impact of hepatic steatosis on outcomes of colorectal cancer patients with liver metastases: A systematic review and meta-analysis
Authors: Yang Shengjie , Peng Renze , Zhou Leiming 
Published: September 2022

BackgroundIt is unclear how hepatic steatosis impacts patient prognosis in the case of colorectal cancer with liver metastases (CRLM). The purpose of this review was to assess the effect of hepatic steatosis on patient survival and disease-free survival (DFS) in the case of CRLM.MethodsWe examined the databases of PubMed, CENTRAL, Embase, Google Scholar, and ScienceDirect for studies reporting outcomes of CRLM patients with and without hepatic steatosis. We performed a random-effects meta-analysis using multivariable adjusted hazard ratios (HR).ResultsNine studies reporting data of a total of 14,197 patients were included. All patients had undergone surgical intervention. Pooled analysis of seven studies indicated that hepatic steatosis had no statistically significant impact on patient survival in CRLM (HR: 0.92 95% CI: 0.82, 1.04, I2 = 82%, p = 0.18). Specifically, we noted that there was a statistically significant improvement in cancer-specific survival amongst patients with hepatic steatosis (two studies; HR: 0.85 95% CI: 0.76, 0.95, I2 = 41%, p = 0.005) while there was no difference in overall survival (five studies; HR: 0.97 95% CI: 0.83, 1.13, I2 = 78%, p = 0.68). On meta-analysis of four studies, we noted that the presence of hepatic steatosis resulted in statistically significant reduced DFS in patients with CRLM (HR: 1.32 95% CI: 1.08, 1.62, I2 = 67%, p = 0.007).ConclusionThe presence of hepatic steatosis may not influence patient survival in CRLM. However, scarce data is suggestive of poor DFS in CRLM patients with hepatic steatosis. Further prospective studies taking into account different confounding variables are needed to better assess the effect of hepatic steatosis on outcomes of CRLM.Systematic review registration[https://www.crd.york.ac.uk/prospero/#searchadvanced], identifier [CRD42022320665].
Assessment of antibiotic storage practices, knowledge, and awareness related to antibiotic uses and antibiotic resistance among household members in post-conflict areas of Pakistan: Bi-central study
Authors: Khan Faiz Ullah , Mallhi Tauqeer Hussain , Khan Qasim , Khan Farman Ullah , Hayat Khezar , Khan Yusra Habib , Ahmad Tawseef , Fang Yu 
Published: September 2022

BackgroundThe storage of antimicrobials at home is frequently in-practice in various developing countries, resulting an irrational use, antibiotic resistance, and toxicities. This condition may worsen more in conflict zones where health facilities are limited. This study aimed to determine the storage and use of leftover antibiotics among households (HHs) along with knowledge and awareness about antibiotics and antibiotic resistance (ABR).MethodsA descriptive cross-sectional study design was employed. Members of HHs were invited to participate in the survey while using a convenient sampling technique. The data were obtained using a validated questionnaire and analyzed through SPSS.ResultsA total of 96 HHs were randomly selected from two districts (n = 50, n = 46), with most of the participants being men between the ages of 18 and 28 (n = 45, 46.9%) years. The majority of HHs (n = 32, 33.3%) had six to eight total family members, with one to two chronic diseases (n = 63, 65.6%), individual families (n = 60, 62.5%), and with (n = 35, 36.5%) LRTIs (lower respiratory tract infections). The HHs were aware of the word “antibiotic” (n = 59, 61.5%) and gave correct replies to amoxicillin as an antibiotic (n = 42, 43.8%); on the other hand, HHs also thought of paracetamol as an antibiotic (n = 45, 47.9%). They identified the most common brands of antibiotics easily, and a majority of them (n = 69, 71.9%) had never heard of ABR before and had lower levels of awareness. The most stored antibiotic at home (n=38, 39.6%) was azithromycin (J01FA10). In addition, they had multiple needless (1–2, n = 62, 64.6%; 3–4, n = 29, 30.2%) and antibiotics in their houses. Age had a strong association (p = 0.017, H = 12) affected the mean knowledge scores related to antibiotic use. Association of education levels (p = 0.001, H = 52.8) and occupation (p = 0.04, H = 10) with proper antibiotics use were found to be significant. However, family members with more than one chronic illness (p = 0.09, H = 0.8) showed a significant relationship with their awareness of antibiotics.ConclusionParticipants generally stored various antibiotics of different classes in their homes. Lack of knowledge related to the appropriate usage of antibiotics, use of leftover antibiotics, and awareness related to ABR were unknown to the participants.