bluuebunny/crossref_metadata_2025_split huggingface dataset:
Zero fluoroscopy ablation for atrioventricular nodal reentrant tachycardia and typical atrial flutter is equally safe and effective with EnSite NavX, Carto3, and Rhythmia mapping systems
Authors: Piros Katalin , Perge Péter , Salló Zoltán , Herczeg Szilvia , Nagy Vivien Klaudia , Osztheimer István , Merkely Béla , Gellér László , Szegedi Nándor 
Published: July 2023

PurposeOur purpose was to compare the procedural characteristics, success rate, and complication rate of the conventional fluoroscopic (CF) and the zero-fluoroscopic (ZF) approach in patients undergoing catheter ablation of AVNRT or typical atrial flutter (Aflu).Methods186 consecutive patients with an indication for AVNRT or Aflu ablation were enrolled. Based on the operator's preference, the patients were assigned to either CF or ZF group. In the ZF group EnSite NavX, Carto3, or Rhythmia EAMS were used for catheter guidance.ResultsThe median age was 56 (IQR = 42−68) years, 144 patients had AVNRT, and 42 had Aflu ablation. CF approach was chosen in 123 cases, while ZF in 63 cases. ZF approach was used more often in case of AVNRT patients [56 (39%) vs. 7 (17%), p = 0.006] and in the case of female patients [43 (68%) vs. 20 (32%), p = 0.008]. Acute procedural success was obtained in all cases. There was no difference in the complication rate (1 vs. 1, p &gt; 0.99) between the two groups. No difference was found regarding the procedure time between the CF and ZF groups [CF: 55 (46–60) min, ZF 60 (47–65) min; p = 0.487] or in the procedure time for the different EAMS [EnSite NavX: 58 (50–63) min, Carto3: 60 (44.5–66.3) min, Rhythmia: 55 (35–69) min; p = 0.887]. A similar success rate was seen at the 3-month follow-up in the two groups [41 (100%) vs. 96 (97%); p = 0.55].DiscussionThe ZF approach demonstrated non-inferiority in safety and efficacy compared with CF for the AVNRT and Aflu ablations.
Changes in carotid artery texture by ultrasound and elastin features in a murine model
Authors: Mitchell Carol , Al Mukaddim Rashid , Liu Yuming , Graham Melissa , Eickhoff Jens C. , Weichmann Ashley M. , Tattersall Matthew C. , Korcarz Claudia E. , Stein James H. , Varghese Tomy , Eliceiri Kevin W. 
Published: July 2023

ObjectiveIn humans, arterial grayscale ultrasound texture features independently predict adverse cardiovascular disease (CVD) events and change with medical interventions. We performed this study to examine how grayscale ultrasound texture features and elastin fibers change in plaque-free segments of the arterial wall in a murine model prone to atherosclerosis.MethodsA total of 10 Apoetm1Unc/J mice (n = 5 male, n = 5 female) were imaged at 6, 16, and 24 weeks of age. Two mice were euthanized at 6 and 16 weeks and the remaining mice at 24 weeks. Texture features were extracted from the ultrasound images of the distal 1.0 mm of the common carotid artery wall, and elastin measures were extracted from histology images. Two-way analysis of variance was used to evaluate associations between week, sex, and grayscale texture features. Texture feature and elastin number comparisons between weeks were conducted using the sex-by-week two-way interaction contrasts. Sex-specific correlations between the number of elastin fibers and grayscale texture features were analyzed by conducting non-parametric Spearman's rank correlation analyses.ResultsArterial wall homogeneity changed significantly in male mice from 6 to 24 weeks, with a mean (SD) of 0.14 (0.03) units at 6 weeks and 0.18 (0.03) units at 24 weeks (p = 0.026). Spatial gray level dependence matrices-homogeneity (SGLD-HOM) also correlated with carotid artery plaque score (rs = 0.707, p = 0.033). Elastin fibers in the region of interest decreased from 6 to 24 weeks for both male and female mice, although only significantly in male mice. The mean (SD) number of elastin fibers for male mice was 5.32 (1.50) at 6 weeks and 3.59 (0.38) at 24 weeks (p = 0.023). For female mice, the mean (SD) number of elastin fibers was 3.98 (0.38) at 6 weeks and 3.46 (0.19) at 24 weeks (p = 0.051).ConclusionGrayscale ultrasound texture features that are associated with increased risk for CVD events in humans were used in a murine model, and the grayscale texture feature SGLD-HOM was shown to change in male mice from 6 weeks to 24 weeks. Structural alterations of the arterial wall (change in elastin fiber number) were observed during this time and may differ by sex.
Uniform thickness in the process of ore-mixed characteristics of particles passing through experimental research
Authors: Niu Xiangdong , Sun Huafen , Hou Kepeng 
Published: July 2023

The nature of fine particulate matter is caused by the deterioration of the lean ore loss index and the important influence factors of a mine disaster accident. In this paper, fine moraine particles and coarse-grained ore from the Pulang Copper Mine are studied. The flow of fine particles in mixed particles under the condition of uniform ore drawing was studied by using the laboratory 3D physical model test method. This experiment explored the flow of hybrid particles in the system and characteristics of the particle size of fine particles passing through, and suggested a transit index to quantify the draining effect of fine particles. The experimental results show the following: ①Hybrid particles in the flow system of fine particulate matter under their own gravity use mixed ore particles flow in the process of formation of the pore to implement down through sports. ②The fine particles with the particle sizes of 2.5–1.25 mm, 1.25–0.63 mm, 0.63–0.315 mm, and 0.315–0.16 mm all have the flow-through characteristics, and the smaller the particle size, the more significant the flow-through degree. ③The cumulative ore drawing height of fine particles with different particle sizes increases, while the permeability index of the appropriate discharge decreases. ④The relative motion of coarse and fine particles is the internal control factor that leads to the flow of fine particles. The more significant the relative motion of coarse and finely mixed particles is, the more pores are randomly generated in the particle flow system and the larger the pores are, resulting in the more obvious fine particle flow effect. This study provides some theoretical reference value for revealing the flow-through characteristics of the fine particulate matter in the mixed particle flow system. At the same time, it has practical engineering significance for ore lean loss index control and mine disaster accident prevention and control in caving mining.
Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved
Authors: Lam Jenny , Stoppa-Vaucher Sophie , Antoniou Maria Cristina , Bouthors Thérèse , Ruiz Inge , Sekarski Nicole , Rutz Tobias , Fries Sophie , Binz Pierre Alain , Bütschi Florence Niel , Vulliemoz Nicolas , Gawlik Aneta , Pitteloud Nelly , Hauschild Michael , Busiah Kanetee 
Published: July 2023

IntroductionTurner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients.MethodsIn this multicenter retrospective descriptive cohort study, we collected growth and pubertal parameters, associated comorbidities, treatment, and karyotype in patients diagnosed at age &lt;18 years between 1993 and 2022. We assessed age-appropriate recommendation follow-up (children, adolescents and adults) according to the 2007 guidelines if the last visit was before 2017 (18 recommendations) and the 2017 guidelines if the last visit was after 2017 (19 recommendations).ResultsWe included 68 patients followed at Lausanne University Hospital (n=64) and at Neuchatel Regional Hospital (RHNe) (n=4). 2.9% of patients underwent all recommended investigations.Overall, 68.9 ± 22.5% and 78.5 ± 20.6% of the recommendations were followed, before and after 2017 respectively. High implementation rates were found for height, weight and BMI (100%), cardiac (80 to 100%) and renal (90 to 100%) imaging. Low implementation rates were found for Ear, Nose and Throat (ENT) (56.5%), skin (38.5%), dental (23.1%), ophthalmological (10%) and cholestasis (0 to 29%) assessments, depending on age and time of visit. In adults (n=33), the mean proportion of followed recommendations was lower before than after 2017: 63.5 ± 25.8% vs. 78.7 ± 23.4%, p=0.039.ConclusionGrowth parameters, cardiac and renal imaging are well followed. However, efforts should be made for dental, ENT, ophthalmological, skin and cholestasis assessments. Adequacy of follow-up improved with the quality of transition to adult care.
Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation
Authors: Landen Lucie , De Leener Anne , Le Roux Manon , Brichard Bénédicte , Aydin Selda , Maiter Dominique , Lysy Philippe A. 
Published: July 2023

IntroductionVon Hippel Lindau (VHL) syndrome is caused by an autosomal dominant hereditary or sporadic germline mutation of the VHL gene with more than five hundred pathogenic mutations identified. Pheochromocytomas and rarely paragangliomas occur in 10-50% of patients with VHL syndrome usually around 30 years of age and exceptionally before the age of 10.Case presentationWe diagnosed a 9-year-old girl of normal appearance and severe refractory hypertension, with a norepinephrine-secreting pheochromocytoma related to VHL syndrome due to a known familial germline heterozygous mutation of VHL gene (c.414A&gt;G), also present in three members of her family. At age 13, a pelvic tumor and a left adrenal pheochromocytoma that showed to be multi-metastatic to both lungs were discovered in the patient leading to left adrenalectomy and pelvic tumor resection. In addition to the germline VHL gene mutation, blood analysis using Next Generation Sequencing identified a novel heterozygous germline mutation of the KIF1B gene (c.3331_3332del; p.Asn1111Glnfs*21), which is only present in the girl and not the other family members. The patient is currently under steroid substitution therapy and leads a normal life.DiscussionThis family is notable by the early age of onset of multiple neural crest tumors associated with a high propensity for malignancy and metastatic spread. Most reports in the literature associated the VHL mutation with a later onset in adulthood and a benign course, which contrast with our findings and question the role of this mutation in the phenotype expressed in this kindred. Also, the presence of concomitant mutations in two susceptibility genes for neural crest tumors poses the question of their respective roles in the development of tumors in this family. Our familial case description illustrates the potential for systematic use of targeted Next Generation Sequencing with multi-gene panels in patients with neural crest tumors to confirm the role of known susceptibility genes as well as identifying new ones, but also to contribute to comprehensive databases on gene variants and their phenotypic counterparts in this specific area of medicine.
Case Report: Severe McCune–Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles
Authors: Unsal Yagmur , Gozmen Onur , User İdil Rana , Hızarcıoglu Hayriye , Gulhan Bora , Ekinci Saniye , Karagoz Tevfik , Ozon Z. Alev , Gonc E. Nazlı 
Published: July 2023

BackgroundCafé-au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, and liver and cardiac dysfunction are presenting features of neonatal McCune–Albright syndrome (MAS), CS being the rarest endocrine feature. Although spontaneous resolution of hypercortisolism has been reported, outcome is usually unfavorable. While a unified approach to diagnosis, treatment, and follow-up is lacking, herein successful treatment and long-term follow-up of a rare case is presented.Clinical caseAn 11-day-old girl born small for gestational age presented with deterioration of well-being and weight loss. Large hyperpigmented macules on the trunk, hypertension, hyponatremia, hyperglycemia, and elevated liver enzymes were noted. ACTH-independent CS due to MAS was diagnosed. Although metyrapone (300 mg/m2/day) was started on the 25th day, complete remission could not be achieved despite increasing the dose up to 1,850 mg/m2/day. At 9 months, right total and left three-quarters adrenalectomy was performed. Cortisol decreased substantially, ACTH remained suppressed, rapid tapering of hydrocortisone to physiological dose was not tolerated, and supraphysiological doses were required for 2 months. GNAS analysis from the adrenal tissue showed a pathogenic heterozygous mutation. During 34 months of follow-up, in addition to CS due to MAS, fibrous dysplasia, hypophosphatemic rickets, and peripheral precocious puberty were detected. She is still regularly screened for other endocrinopathies.ConclusionNeonatal CS due to MAS is extremely rare. Although there is no specific guideline for diagnosis, treatment, or follow-up, addressing side effects and identifying treatment outcomes will improve quality of life and survival.
Paternal developmental thyrotoxicosis disrupts neonatal leptin leading to increased adiposity and altered physiology of the melanocortin system
Authors: Martinez Maria Elena , Wu Zhaofei , Hernandez Arturo 
Published: July 2023

BackgroundThe genetic code does not fully explain individual variability and inheritance of susceptibility to endocrine conditions, suggesting the contribution of epigenetic factors acting across generations.MethodsWe used a mouse model of developmental thyrotoxicosis (Dio3-/- mouse) to analyze endocrine outcomes in the adult offspring of Dio3-/- males using standard methods for body composition, and baseline and fasting hormonal and gene expression determinations in serum and tissues of relevance to the control of energy balance.ResultsCompared to controls, adult females with an exposed father (EF females) exhibited higher body weight and fat mass, but not lean mass, a phenotype that was much milder in EF males. After fasting, both EF females and males exhibited a more pronounced decrease in body weight than controls. EF females also showed markedly elevated serum leptin, increased white adipose tissue mRNA expression of leptin and mesoderm-specific transcript but decreased expression of type 2 deiodinase. EF females exhibited decreased serum ghrelin, which showed more pronounced post-fasting changes in EF females than in control females. EF female hypothalami also revealed significant decreases in the expression of pro-opiomelanocortin, agouti-related peptide, neuropeptide Y and melanocortin receptor 4. These markers also showed larger changes in response to fasting in EF females than in control females. Adult EF females showed no abnormalities in serum thyroid hormones, but pituitary expression of thyrotropin-releasing hormone receptor 1 and thyroid gland expression of thyroid-stimulating hormone receptor, thyroid peroxidase and iodotyrosine deiodinase were increased at baseline and showed differential regulation after fasting, with no increase in Trhr1 expression and more pronounced reductions in Tshr, Tpo and Iyd. In EF males, these abnormalities were generally milder. In addition, postnatal day 14 (P14) serum leptin was markedly reduced in EF pups.DiscussionA paternal excess of thyroid hormone during development modifies the endocrine programming and energy balance in the offspring in a sexually dimorphic manner, with baseline and dynamic range alterations in the leptin-melanocortin system and thyroid gland, and consequences for adiposity phenotypes. We conclude that thyroid hormone overexposure may have important implications for the non-genetic, inherited etiology of endocrine and metabolic pathologies.
Systematic analysis of the prognosis and immune infiltration of E2Fs in thyroid carcinoma
Authors: Fu Xinghao , Zhou Xing , Ji Feihong , He Qi , Qiu Xinguang 
Published: July 2023

Purpose: To evaluate the diagnostic and prognostic utility of E2F transcription factors (E2Fs) in thyroid carcinoma (THCA) and their association with immune infiltration.Methods: The transcription and protein levels of E2Fs in THCA tissues were examined using the R language and the Human Protein Atlas (HPA) database in this research. We utilized the UALCAN and GEPIA2 databases to analyze the association between the level of E2Fs and the clinicopathological features of THCA. The prognostic utility of E2F expression in THCA was studied using the R language and the Gene Set Cancer Analysis (GSCA) database. Over-representation analysis (ORA) and gene set enrichment analysis (GSEA) were employed to analyze the effect of E2F family members. The TISIDB database and Tumor Immune Estimation Resource (TIMER) database were utilized to investigate the relationship between E2F expression and the level of immune infiltration in thyroid cancer.Results: E2Fs are highly conserved in thyroid carcinoma and rarely mutated. E2Fs are strongly expressed in THCA and are highly related with the clinicopathological stage of THCA. Patients with THCA have a poor prognosis when E2Fs are highly expressed. The function of E2Fs in THCA may be closely related to the renin–angiotensin system (Ras) signaling pathway, platelet-derived growth factor (PDGF) signaling pathway, apoptosis, and immune response. With regard to the immune infiltration, E2F expression and tumor-infiltrating lymphocytes exhibited a positive connection.Conclusion: The level of E2Fs is connected with the prognosis and immune infiltration level in THCA, revealing that E2Fs may be a prognostic and immune infiltration cell marker in THCA patients.
Immunogenicity and reactogenicity of inactivated SARS-CoV-2 vaccines in healthy adults
Authors: Wu Yufei , Huang Ping , Xu Mingjie , Zhao Qianqian , Xu Yihui , Han Shuyi , Li Huanjie , Wang Yunshan 
Published: July 2023

IntroductionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly pathogenic to humans and has caused the ongoing coronavirus disease 2019 (COVID-19) pandemic. Vaccines are one of the efficient ways to prevent the viral infection. After COVID-19 vaccination, the monitoring of the dynamic change in neutralizing antibodies is necessary to determine booster requirements.MethodsWe estimated the effectiveness of the inactivated vaccines by monitoring dynamic SARS-CoV-2 neutralizing antibodies for over 2 years. Additionally, we also investigated the activation of T lymphocytes (CD3+ T cells) after three doses of the inactivated vaccine.ResultThe results showed that the rate of reduction of SARS-CoV-2 neutralizing antibody levels gradually showed after each booster dose. The IgG/IgM level at 9 months after the third vaccination were significantly higher than those at 6 months after the second dose (p&lt;0.0001). The expression of CD25+T cell in 18–35 age group was significantly higher than that in the other groups. Nine months after the third dose (the time of last blood sample collection), the expression of CD25+T cell in the 18–35 age group was significantly higher than that at 6 months after the second dose. CD25+T cell in the 18-35 years old group was significantly higher than 6 months after the second vaccination.ConclusionCD25, a late activation marker of lymphocytes and high-activity memory T cell subgroup, exhibited higher levels at the later stages after vaccination. COVID-19 booster vaccination in older adults and regular testing of SARS-CoV-2 neutralizing antibodies are recommended. Booster doses should be administered if the antibody level falls below the 30% inhibition rate.
Molecular signature associated with cladribine treatment in patients with multiple sclerosis
Authors: Fissolo Nicolas , Calvo-Barreiro Laura , Eixarch Herena , Boschert Ursula , Villar Luisa M. , Costa-Frossard Lucienne , Ferrer Mireia , Sanchez Alex , Borràs Eva , Sabidó Eduard , Espejo Carmen , Montalban Xavier , Comabella Manuel 
Published: July 2023

IntroductionLittle is known about the molecular profiling associated with the effect of cladribine in patients with multiple sclerosis (MS). Here, we aimed first to characterize the transcriptomic and proteomic profiles induced by cladribine in blood cells, and second to identify potential treatment response biomarkers to cladribine in patients with MS.MethodsGene, protein and microRNA (miRNA) expression profiles were determined by microarrays (genes, miRNAs) and mass spectrometry (proteins) in peripheral blood mononuclear cells (PBMCs) from MS patients after in vitro treatment with cladribine in its active and inactive forms. Two bioinformatics approaches to integrate the three obtained datasets were applied: (i) a multiomics discriminant analysis (DIABLO - Data Integration Analysis for Biomarker discovery using Latent variable approaches for Omics studies); and (ii) a multi-stage integration of features selected in differential expression analysis on each dataset and then merged. Selected molecules from the in vitro study were quantified by qPCR ex vivo in PBMCs from MS patients receiving cladribine.ResultsPBMCs treated in vitro with cladribine were characterized by a major downregulation of gene, protein, and miRNA expression compared with the untreated cells. An intermediate pattern between the cladribine-treated and untreated conditions was observed in PBMCs treated with cladribine in its inactive form. The differential expression analysis of each dataset led to the identification of four genes and their encoded proteins, and twenty-two miRNAs regulating their expression, that were associated with cladribine treatment. Two of these genes (PPIF and NHLRC2), and three miRNAs (miR-21-5p, miR-30b-5p, and miR-30e-5p) were validated ex vivo in MS patients treated with cladribine.DiscussionBy using a combination of omics data and bioinformatics approaches we were able to identify a multiomics molecular profile induced by cladribine in vitro in PBMCs. We also identified a number of biomarkers that were validated ex vivo in PBMCs from patients with MS treated with cladribine that have the potential to become treatment response biomarkers to this drug.