bluuebunny/crossref_metadata_2025_split huggingface dataset:
Integrated analysis identifies the IL6/JAK/STAT signaling pathway and the estrogen response pathway associated with the pathogenesis of intracranial aneurysms
Authors: Wu Aihong , Zhao Chao , Mou Shanling , Li Shengjun , Cui Xinchun , Zhang Ronghua 
Published: November 2022

ObjectiveWe intended to identify the potential key biomarker and pathways that correlated with infiltrating immune cells during the pathogenesis of intracranial aneurysms (IA), to develop a diagnostic model, and to predict therapeutic drugs.MethodsThree datasets containing intracranial aneurysm tissue samples and normal artery control samples from Gene Expression Omnibus (GEO) were included. Gene-set variation analysis(GSVA) and gene set enrichment analysis (GSEA) were conducted to find the significant differentially expressed pathways in IA formation. The least absolute shrinkage and selection operator (LASSO) regression and the multivariate logistic regression analysis were performed to identify the characteristic genes in the IL6/JAK/STAT signaling pathway (ISP) and the estrogen response pathway (ERP). A diagnostic model was constructed. xCell was used to identify immune cell types in IA pathogenesis. We used the weighted gene co-expression network analysis (WGCNA) algorithm to explore the correlations between the key modules and the four traits. Potential therapeutic drugs were investigated in Enrichr and Drugbank database.ResultsThe ISP is significant positively correlated with IA onset. The biological function of the ISP is positively correlated with that of the ERP, and is significantly associated with immune cells activities. CSF2RB, FAS, IL6, PTPN1, STAT2, TGFB1 of the ISP gene set and ALDH3A2, COX6C, IGSF1, KRT18, MICB, NPY1R of the ERP gene set were proved to be the characteristic genes. The STAT2 gene can be the potential biomarker of IA onset. The immune score of IA samples was significantly higher than the controls. The STAT2 gene expression is associated with infiltration of immune cells. The WGCNA results were consistent with our finds. Acetaminophen can be a potential therapeutic drug for IA targeting STAT2.ConclusionsWe identified that the ISP was one of the most significant positively correlated pathways in IA onset, and it was activated in this process concordant with the ERP and immune responses. Except for beneficial effects, complex and multiple roles of estrogen may be involved in IA formation. STAT2 could be a potential biomarker and a promising therapeutic target of IA pathogenesis.
Proximity-dependent biotinylation technologies for mapping RNA-protein interactions in live cells
Authors: Giambruno Roberto , Nicassio Francesco 
Published: November 2022

Proximity ligation technologies are extremely powerful tools for unveiling RNA-protein interactions occurring at different stages in living cells. These approaches mainly rely on the inducible activity of enzymes (biotin ligases or peroxidases) that promiscuously biotinylate macromolecules within a 20 nm range. These enzymes can be either fused to an RNA binding protein or tethered to any RNA of interest and expressed in living cells to biotinylate the amino acids and nucleic acids of binding partners in proximity. The biotinylated molecules can then be easily affinity purified under denaturing conditions and analyzed by mass spectrometry or next generation sequencing. These approaches have been widely used in recent years, providing a potent instrument to map the molecular interactions of specific RNA-binding proteins as well as RNA transcripts occurring in mammalian cells. In addition, they permit the identification of transient interactions as well as interactions among low expressed molecules that are often missed by standard affinity purification strategies. This review will provide a brief overview of the currently available proximity ligation methods, highlighting both their strengths and shortcomings. Furthermore, it will bring further insights to the way these technologies could be further used to characterize post-transcriptional modifications that are known to regulate RNA-protein interactions.
Identification of risk factors in pre-term infants with abnormal general movements
Authors: Domagalska-Szopa Małgorzata , Szopa Andrzej , Serrano-Gómez María Eugenia , Hagner-Derengowska Magdalena , Behrendt Jakub 
Published: November 2022

IntroductionThis study aimed to investigate the relationship between prenatal, perinatal, and postnatal risk factors for neurodevelopmental impairment (NDI) with the outcomes of General Movement (GM) Assessment (GMA) in pre-term infants at 3–5 months of age. We sought to identify the risk factors associated with the predictors of psychomotor development in pre-term newborns, such as normal fidgety movements (FMs), absent FMs, or abnormal FMs, assessed during the fidgety period of motor development.MethodsThe SYNAGIS program (prophylactic of Respiratory Syncytial Virus Infection) was used to identify risk factors for the development of neuromotor deficits in 164 pre-term infants who were at high risk of developing these deficits. Based on the GMA, all participants were divided into three groups of infants who presented: (1) normal FMs; (2) absent FMs; and (3) abnormal FMs.ResultsThe results of the current study suggest that abnormal GMs not only indicate commonly known factors like birth asphyxia (BA), respiratory distress syndrome (RDS), periventricular leukomalacia (PVL), intraventricular hemorrhage (IVH) grades 3–4, but also predict the development of motor impairments. In the present study, several specific risk factors including bronchopulmonary dysplasia (BPD), infertility treatments, maternal acute viral/bacterial infections during pregnancy, and elevated bilirubin levels were identified as attributes of an atypical fidgety movement pattern.ConclusionsAdditional clinical data, such as risk factors for NDI associated with early predictors of psychomotor development in pre-term newborns, i.e., absent or abnormal FMs, may be helpful in predicting neurological outcomes in pre-term infants with developmental concerns in the 1st month of life.
Non-invasive assessment of cerebral hemoglobin parameters in intracranial dural arteriovenous fistula using functional near-infrared spectroscopy—A feasibility study
Authors: Senthilvelan Santhakumar , Kannath Santhosh Kumar , Arun Karumattu Manattu , Menon Ramshekhar , Kesavadas Chandrasekharan 
Published: November 2022

PurposeThe purpose of this study was to assess the feasibility of non-invasive assessment of cerebral hemodynamics using functional near-infrared spectroscopy (fNIRS) in patients with intracranial dural arteriovenous fistula (DAVF) and to correlate the hemodynamic changes with definitive endovascular treatment.MethodologyTwenty-seven DAVF patients and 23 healthy controls underwent 20-mins task-based functional near-infrared spectroscopy and neuropsychology evaluation. The mean change in the hemoglobin concentrations obtained from the prefrontal cortex was assessed for oxyhemoglobin, deoxyhemoglobin, and oxygen saturation (HbO, HbR, and SO2, respectively). The fNIRS data were analyzed and correlated with improvement in neuropsychology scores at 1-month follow-up.ResultsThere was a significant reduction in HbO in the patient group, while it increased in controls (−2.57E−05 vs. 1.09E−04 mM, p &lt; 0.001). The reduced HbO significantly improved after embolization (−2.1E−04 vs. 9.9E−04, p = 0.05, q = 0.05). In patients with aggressive DAVF (Cognard 2B and above), the change was highly significant (p &lt; 0.001; q = 0.001). A moderate correlation was observed between MMSE scores and HbO changes (ρ = 0.4).ConclusionfNIRS is a useful non-invasive modality for the assessment of DAVF, and could potentially assist in bedside monitoring of treatment response.
Bioactive Components From Gracilaria rubra With Growth Inhibition on HCT116 Colon Cancer Cells and Anti-inflammatory Capacity in RAW 264.7 Macrophages
Authors: Yi Lingxiao , Wang Qi , Luo Haiyan , Lei Daqing , Tang Zhonghai , Lei Sijia , Xiao Hang 
Published: November 2022

Graphical AbstractExtractable bioactive components (EBCs) and non-extractable bioactive components (NEBCs) have been isolated from Gracilaria rubra, which contains certain amounts of phenolics, flavonoids, tannins, anthocyanins, proteins, and carbohydrates. Additionally, EBCs and NEBCs displayed anti-colon cancer capacities and anti-inflammatory properties in cell studies.
Fluorescein sodium in the surgical treatment of pleomorphic xanthoastrocytomas: Results from a retrospective study
Authors: Falco Jacopo , Broggi Morgan , Vetrano Ignazio G. , Rubiu Emanuele , Schiariti Marco , Restelli Francesco , Mazzapicchi Elio , Bonomo Giulio , La Corte Emanuele , Ferroli Paolo , Acerbi Francesco 
Published: November 2022

ObjectivePleomorphic xanthoastrocytoma (PXA) is a rare brain tumor, most commonly affecting children and young adults. Surgical resection represents the mainstay of treatment, and extent of resection is associated with improved survival. In this study, we analyzed the role of sodium fluorescein (SF) in improving intraoperative visualization easing resection.MethodsSurgical database of FLUOCERTUM study (Besta Institute, Milan, Italy) was retrospectively reviewed to find pleomorphic xanthoastrocytomas and anaplastic xanthoastrocytomas, according to WHO-2016/2021 classification, surgically removed by a fluorescein-guided technique from March 2016 to February 2022. SF was intravenously injected (5mg/kg) immediately after induction of general anesthesia. Tumors were removed using a microsurgical technique with the YELLOW 560 filter (Carl Zeiss Meditec, Oberkochen, Germany).ResultsTwelve patients (7 males and 5 females; 3 pediatric patients, mean age 10 years, range 5 to 13 years and 9 adult patients, mean age 50.6 years, range 35 to 63 years) underwent fluorescein-guided surgery. No side effects related to SF occurred. In all tumors, contrast enhancement on preoperative MRI correlated with intense, heterogeneous yellow fluorescence with bright fluorescent cystic fluid. Fluorescein was considered helpful in distinguishing tumors from viable tissue in all cases. Gross total resection was achieved in 8 cases (66.7%); in 4 cases, otherwise, the resection was subtotal with fluorescent residual spots to avoid neurological worsening (33.3%).ConclusionsThe use of SF is a valuable method for safe fluorescence-guided tumor resection. Our data documented a positive effect of fluorescein-guided surgery on intraoperative visualization, suggesting a probable role in improving the extent of resection during yellow surgery of PXA.
Adaptive Tomotherapy for locally advanced unresectable pancreatic neuroendocrine tumor: Case report and literature review
Authors: Tu Kuan-Yi , Huang Yen-Shuo , Lau Juntiong , Lee Hsin-Hua 
Published: November 2022

BackgroundPancreatic neuroendocrine tumor (NET) is rare, and the majority presents late in their clinical course. Here, we present a huge locally advanced pancreatic NET having Hi-Art helical Tomotherapy that resulted in a 68% reduction in target volume during adaptive image-guided radiotherapy (IGRT).Case summaryA 63-year-old man without any history of systemic disease developed voiding difficulty for several months. Associated symptoms included poor appetite, nausea, distended abdomen, and body weight loss. Further magnetic resonance imaging showed a large multilobulated tumor in the left upper abdomen. Tumor biopsy revealed well-differentiated, grade 2, neuroendocrine tumor. Complete resection was unattainable. Therefore, Lanreotide was prescribed initially. However, tumor progression up to the greatest diameter of 18 cm was noted on computed tomography 5 months later. Thus, he stopped Lanreotide and commenced on concurrent chemoradiotherapy (CCRT). With a total dose of 70 Gy in 35 fractions, we generated two adaptive treatment plans during the whole course. Laparoscopic subtotal pancreatectomy with spleen preservation was performed after neoadjuvant CCRT. It has been more than 3 years after IGRT, and he remains cancer free and reports no side effects during regular follow-ups.ConclusionTomotherapy caused tumor size reduction and hence facilitated surgical possibility for this originally unresectable pancreatic NET. Neoadjuvant IGRT incorporated with adaptive treatment planning enhanced delivery accuracy. In this case of pancreatic NET resistant to Lanreotide, inter-fractional tumor regression from 1910 to 605 cc (68%) was documented.
PCDH9 suppresses melanoma proliferation and cell migration
Authors: Zhang Jiaojiao , Yang Hui-Zhi , Liu Shuang , Islam Md Obaidul , Zhu Yue , Wang Zuhua , Chen RongYi 
Published: November 2022

BackgroundMelanoma has dramatically increased during last 30 years with low 5-year survival and prognosis rate.MethodsMelanoma cells (A375 and G361) were chosen as the in vitro model. The immunohistochemical (IHC) analysis and bioinformatics mining exhibited the suppression of PCDH9 on melanoma. The interference and overexpression of PCDH9 were infected by lentivirus. The effects of PCDH9 on melanoma cells were assessed in terms of alteration of PCDH9 such as cell viability, apoptosis, cell cycle, and wound-healing assay. Moreover, expressions of PCDH9 with other genes (MMP2, MMP9, CCND1, and RAC1) were also assessed by PCR.ResultsThe alteration of PCDH9 has a negative correlation with MMP2, MMP9, and RAC1 but had a positive correlation with CCND1 (Cyclin D1) and apoptosis. Increase of PCDH9 could suppress melanoma cells and inhibit migration but not exert significant effects on cell cycle. IHC showed lower PCDH9 expression in melanoma tissue with main expression in cytoplasm.ConclusionOverexpressed PCDH9 suppressed melanoma cells, and PCDH9 can be considered as an independent prognostic factor for melanoma; even re-expression of PCDH9 can serve as a potential therapeutic strategy for melanoma treatment.
Kawasaki disease following SARS-CoV-2 infection: Stronger inflammation with no increase in cardiac complications
Authors: Roh Da Eun , Lim Young Tae , Kwon Jung Eun , Kim Yeo Hyang 
Published: November 2022

BackgroundHerein we investigate the difference between Kawasaki disease (KD) with and without a recent history of SARS-CoV-2 infection.MethodsWe compared the clinical characteristics of patients with KD during the SARS-CoV-2 pandemic in a single children's hospital in Korea. Fifty-two patients were enrolled and divided into group 1 (with a history of COVID-19, n = 26) and group 2 (without a history of COVID-19, n = 26) according to whether or not they contracted COVID-19 within the 8 weeks before hospitalization. Data, including clinical features and laboratory results, were analyzed and compared between groups.ResultsThe median age of patients was significantly higher in group 1 than in group 2 (53 months [IQR, 24–81] vs. 15 months [IQR, 6–33], p = 0.001). The incidence of cervical lymphadenopathy was significantly higher (p = 0.017), while that of BCGitis was significantly lower in group 1 (p = 0.023), and patients had a significantly longer hospital stay (5 days [IQR, 3–8] vs. 3 days [IQR, 3–4], p = 0.008). In group 1, platelet count was significantly lower (p = 0.006), and hemoglobin and ferritin levels were significantly higher (p = 0.013 and p = 0.001, respectively) on the first admission day. Following treatment with intravenous immunoglobulin (IVIG), the platelet count was significantly lower (p = 0.015), and the percentage of neutrophils and neutrophil-to-lymphocyte ratio were significantly higher in group 1 (p = 0.037 and p = 0.012). Although there was no statistical difference, patients requiring infliximab treatment due to prolonged fever was only in group 1. The incidence of cardiovascular complications did not differ between the groups.ConclusionsPost-COVID KD showed a stronger inflammatory response than KD-alone, with no differences in cardiac complications.
A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
Authors: Ni Jiajia , Zhu Yaju , Lin Fujun , Guan Wenbin , Jin Jing , Li Yufeng , Guo Guimei 
Published: November 2022

BackgroundDent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.Case presentationHere we report one 11-year-old Chinese boy (proband) and one 13-year-old Chinese boy who was proband's cousin, both presented with massive proteinuria. Further laboratory examinations revealed a lack of nephrocalcinosis, nor any other signs of tubular dysfunction, but only LMWP and hypercalciuria. There was no abnormality in growth, renal function or mineral density of the bones. A novel deletion (c.1448delG) in the CLCN5 gene was identified, resulting in a frame shift mutation (p.Gly483fs). The proband's and his cousin's mothers were found to be the carrier of this mutation.ConclusionsIn this study, we have found a novel frameshift mutation (c. 1448delG) at exon 11 of the CLCN5 gene which leads to Dent disease 1, expanding the spectrum of CLCN5 mutations.
Analytical study of RUNX1-RUNXT1, PML-RARA, CBFB-MYH11, BCR-ABL1p210, and KMT2-MLLT3 in Mexican children with acute myeloid leukemia: A multicenter study of the Mexican interinstitutional group for the identification of the causes of childhood leukemia (MIGICCL)
Authors: Sepúlveda-Robles Omar , Jiménez-Hernández Elva , Domínguez-Catzín Victoria , Gómez-Flores Eber , Martín-Trejo Jorge Alfonso , Flores-Lujano Janet , Torres-Nava José Refugio , Núñez-Enríquez Juan Carlos , De Ita Marlon , Medina-Sanson Aurora , Mata-Rocha Minerva , Morales-Castillo Blanca Angelica , Bravata-Alcántara Juan Carlos , Nájera-Cortés Alan Steve , Sánchez-Escobar Norberto , Peñaloza-Gonzalez José Gabriel , Espinosa-Elizondo Rosa Martha , Flores-Villegas Luz Victoria , Amador-Sanchez Raquel , Orozco-Ruiz Darío , Pérez-Saldívar Maria Luisa , Velázquez-Aviña Martha Margarita , Merino-Pasaye Laura Elizabeth , Solís-Labastida Karina Anastacia , González-Ávila Ana Itamar , Santillán-Juárez Jessica Denisse , Bekker-Méndez Vilma Carolina , Jiménez-Morales Silvia , Rangel-López Angélica , Rosas-Vargas Haydeé , Mejía-Aranguré Juan Manuel 
Published: November 2022

BackgroundThe distribution of RUNX1-RUNXT1, PML-RARA, CBFB-MYH11, BCR-ABL1p210, and KMT2A-MLLT3 in the pediatric population with acute myeloid leukemia (AML) in many countries of Latin America is largely unknown. Therefore, we aimed to investigate the frequency of these fusion genes in children with de novo AML from Mexico City, which has one of the highest incidence rates of acute leukemia in the world. Additionally, we explored their impact in mortality during the first year of treatment.MethodsWe retrospectively analyzed the presence of RUNX1-RUNXT1, PML-RARA, CBFB-MYH11, BCR-ABL1p210, and KMT2A-MLLT3 by RT-PCR among 77 patients (&lt;18 years) diagnosed with de novo AML between 2019 and 2021 in nine Mexico City hospitals.ResultsThe overall frequency of the fusion genes was 50.7%; RUNX1-RUNXT1 (22.1%) and PML-RARA (20.8%) were the most prevalent, followed by CBFB-MYH11 (5.2%) and BCR-ABL1p210 (2.4%). KMT2A-MLLT3 was not detected. Patients with PML-RARA showed the lowest survival with high early mortality events. However, more studies are required to evaluate the impact of analyzed fusion genes on the overall survival of the Mexican child population with AML.ConclusionThe pediatric population of Mexico City with AML had frequencies of AML1-ETO, PML-RARA, CBFB-MYH11, and BCR-ABL1p210 similar to those of other populations around the world. Patients with BCR-ABL1p210and CBFB-MYH11 were few or did not die, while those with MLL-AF9 was not detected. Although patients with PML-RARA had a low survival and a high early mortality rate, further studies are needed to determine the long-term impacts of these fusion genes on this Latino population.
OEA alleviates apoptosis in diabetic rats with myocardial ischemia/reperfusion injury by regulating the PI3K/Akt signaling pathway through activation of TRPV1
Authors: Yao Enhui , Luo Lili , Lin Chenxi , Wen Jing , Li Yanglongfei , Ren Tong , Chen Yujie , Huang Jinhua , Jin Xin 
Published: November 2022

Reperfusion therapy after myocardial infarction may lead to myocardial injury, which can be complicated and exacerbated by diabetes. The existing therapeutic methods for myocardial ischemia-reperfusion injury (MIRI) in diabetic patients are not ideal. Oleoylethanolamide (OEA) has been found to have protective effects on diabetes and acute cerebral ischemia. This study aimed to determine whether OEA can alleviate MIRI in diabetic rats, and to explore the underlying mechanism. The model of diabetic rats with MIRI was established by blocking the left coronary artery for 30 min, followed by restoring blood flow stability for 120 min. The myocardial enzyme spectrum, area of MIRI, and expression levels of apoptosis-related proteins were detected. The results showed that OEA pretreatment could reduce myocardial infarction area, protect myocardial tissue structure, and reduce myocardial cell apoptosis in diabetic rats with MIRI. Meanwhile, the levels of creatine kinase (CK)-MB (CK-MB), lactate dehydrogenase (LDH), and malondialdehyde (MDA) were reduced, while superoxide dismutase (SOD) level was elevated. H9C2 cells were treated with high glucose and oxygen-glucose deprivation/reperfusion (OGD/R) to establish an in vitro model. Capsazepine (CPZ), an antagonist of transient receptor potential vanilloid subtype 1 (TRPV1), and LY294002, an inhibitor of PI3K, were used to treat H9C2 cells in vitro. Apoptosis level and the expression levels of apoptosis-related proteins were measured. It was found that OEA activated TRPV1 and the PI3K/Akt signaling pathway, downregulated the expression levels of apoptosis-related proteins (Bcl-2 and cleaved caspase-3), and ameliorated the apoptosis of H9C2 cells treated with high glucose and OGD/R. This study clarified that OEA, as a TRPV1 agonist, could reduce myocardial cell apoptosis by activating the PI3K/Akt signaling pathway in diabetic rats with MIRI. The findings may provide a theoretical basis for administration of OEA as a potential therapeutic agent into diabetic patients with MIRI.
Mathematical analysis for spatial distribution of vessels, mast cells and adipocytes in superficial fascia
Authors: Dong Yingyue , Zhang Dandan , Cao Yingri , Zhang Yanfei , Sun Xiaozhe , Chen Tongsheng , Zhang Yuanyuan , Xu Guoheng 
Published: November 2022

As a novel origin of adipocytes, the superficial fascia, a typical soft connective tissue, has abundant adipocytes and preadipocytes, accompanied by numerous mast cells. Blood vessels pass through the fascia to form a network structure. The more reasonable statistical analysis methods can provide a new method for in-depth study of soft connective tissue by clarifying the spatial distribution relation between cells (point structure) and blood vessels (linear structure). This study adopted the Guidolin et al. statistical analysis methods used by epidemiology and ecology to quantitatively analyze the distribution pattern and correlations among blood vessels, adipocytes, and mast cells. Image-processing software and self-written computer programs were used to analyze images of whole-mounted fascia, and the relevant data were measured automatically. Voronoi’s analysis revealed that the vascular network was non-uniformly distributed. In fascia with average area of 3.75 cm2, quantitative histological analysis revealed 81.16% of mast cells and 74.74% of adipocytes distributed within 60 μm of blood vessels. A Spearman’s correlation coefficient (rs) of &gt;0.7 showed the co-distribution of the two types of cells under different areas. Ridge regression analysis further revealed the spatial correlation among blood vessels, adipocytes and mast cells. The combination of classical epidemiological analysis and extended computer program analysis can better analyze the spatial distribution relation between cells and vessels and should provide an effective analysis method for study of the histology and morphology of fascia and related connective tissues.