bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multimodality 3D image fusion with live fluoroscopy reduces radiation dose during catheterization of congenital heart defects
Authors: Buytaert Dimitri , Vandekerckhove Kristof , Panzer Joseph , Campens Laurence , Bacher Klaus , De Wolf Daniël 
Published: January 2024

IntroductionImaging fusion technology is promising as it is radiation and contrast sparing. Herein, we compare conventional biplane angiography to multimodality image fusion with live fluoroscopy using two-dimensional (2D)–three-dimensional (3D) registration (MMIF2D−3D) and assess MMIF2D−3D impact on radiation exposure and contrast volume during cardiac catheterization of patients with congenital heart disease (CHD).MethodsWe matched institutional MMIF2D−3D procedures and controls according to patient characteristics (body mass index, age, and gender) and the seven procedure-type subgroups. Then, we matched the number of tests and controls per subgroup using chronological ordering or propensity score matching. Subsequently, we combined the matched subgroups into larger subgroups of similar procedure type, keeping subgroups with at least 10 test and 10 control cases. Air kerma (AK) and dose area product (DAP) were normalized by body weight (BW), product of body weight and fluoroscopy time (BW × FT), or product of body weight and number of frames (BW × FR), and stratified by acquisition plane and irradiation event type (fluoroscopy or acquisition). Three senior interventionists evaluated the relevance of MMIF2D−3D (5-point Likert scale).ResultsThe Overall group consisted of 54 MMIF2D−3D cases. The combined and matched subgroups were pulmonary artery stenting (StentPUL), aorta angioplasty (PlastyAO), pulmonary artery angioplasty (PlastyPUL), or a combination of the latter two (Plasty). The FT of the lateral plane reduced significantly by 69.6% for the Overall MMIF2D−3D population. AKBW and DAPBW decreased, respectively, by 43.9% and 39.3% (Overall group), 49.3% and 54.9% (PlastyAO), and 36.7% and 44.4% for the Plasty subgroup. All the aforementioned reductions were statistically significant except for DAPBW in the Overall and Plasty (sub)groups. The decrease of AKBW and DAPBW in the StentPUL and PlastyPUL subgroups was not statistically significant. The decrease in the median values of the weight-normalized contrast volume (CMCBW) in all five subgroups was not significant. Cardiologists considered MMIF2D−3D very useful with a median score of 4.ConclusionIn our institution, MMIF2D−3D overall enabled significant AKBW reduction during the catheterization of CHD patients and was mainly driven by reduced FT in the lateral plane. We observed significant AKBW reduction in the Plasty and PlastyAO subgroups and DAPBW reduction in the PlastyAO subgroup. However, the decrease in CMCBW was not significant.
Arrhythmias in children undergoing orthotopic heart transplantation
Authors: Doğan Eser , Ergin Fırat , Beyter Mehmet B. , Kaşıkçı Gülçin K. , Ön Şeyma Ş. , Ay Oğuzhan , Levent Reşit E. , Engin Çağatay , Ülger Zülal 
Published: January 2024

IntroductionHeart transplantation (HT) is the only treatment option in children with heart failure secondary to cardiomyopathies and non-reparable congenital heart diseases.MethodsWe performed a retrospective clinical data review of all consecutive pediatric patients (aged 2–18 years) who underwent orthotopic HT for advanced heart failure at our institution between January 2007 and January 2023. Clinical, procedural, and follow-up data were collected and comprehensively analyzed.ResultsWe identified 27 children (66.7% males) with a median age of 15 years (IQR: 7–16) and a median weight of 45 kg (IQR: 22–66) at the time of the intervention. 24 patients (88.8%) were diagnosed with dilated cardiomyopathy, 2 (7.4%) with restrictive cardiomyopathy, and 1 (3.7%) with hypertrophic cardiomyopathy. On a median follow-up of 35.07 months (IQR: 13.13–111.87), arrhythmias were detected in 9 (33%) patients. Three patients developed symptomatic sinus node dysfunction at 18, 25, and 38 days and received permanent pacemakers. One patient developed a complete AV block during acute rejection at 76 months and received a temporary pacemaker. Two patients developed chronic sinus tachycardia at 4 and 16 months and were treated with Beta-blockers after eliminating all causes of sinus tachycardia. One patient developed a complete right bundle branch block at 12 months. One patient developed ventricular extrasystole at 10 months and was found to have grade 2 rejection. An Atrial extrasystole was detected in one patient at 96 months. We did not identify significant risk factors for arrhythmias post-HT.DiscussionAfter pediatric HT, early-onset rhythm disturbances, often attributed to surgery-related issues such as sinus node dysfunction, may necessitate invasive treatments like permanent pacemaker therapy. Close monitoring post-transplantation is crucial, and routine follow-up with Holter ECG is necessary to identify potential rhythm disorders even in the absence of symptoms. Rhythm disturbances that develop during follow-up can serve as early indicators of graft rejection and should be carefully evaluated.
The impact of war on the development and progression of arterial hypertension and cardiovascular disease: protocol of a prospective study among Ukrainian female refugees
Authors: Shalimova A. , Stoenoiu M. S. , Cubała W. J. , Burnier M. , Persu A. , Narkiewicz K. 
Published: January 2024

BackgroundGrowing evidence supports the impact of psychological factors such as traumatic experiences and Post Traumatic Stress Disorder (PTSD) on the incidence of arterial hypertension (HTN) and cardiovascular diseases (CVD). The war in Ukraine is exposing million inhabitants to traumatic experiences and severe stress. Part of Ukrainians (mostly women and children) left the country to escape war. We report the protocol of a prospective study aiming at the assessment of the impact of war-induced stress on HTN and CVD in women Ukrainian refugees who moved to Poland.Methods and designThe study will be conducted in 3 stages. Stage 1 will assess the prevalence of HTN and PTSD among Ukrainian refugees and will estimate the impact of war-related trauma exposure on these parameters. Data on office blood pressure (BP) will be compared to data already collected in STEPS data 2019 and May Measurement Month 2021 in Ukraine, matched for age and sex. Stage 2 will involve subjects diagnosed with HTN and/or PTSD referred for management and follow-up of these conditions. Psychologic targeted therapies will be offered to subjects with confirmed PTSD, with a periodical reassessment of the severity of PTSD-associated symptoms and of its impact on HTN and cardiovascular health. Clinical history and characteristics will be compared among three groups: subjects with HTN and PTSD, with HTN without PTSD, with PTSD but without HTN. Stage 3 will involve a subgroup among those screened in Stage 1, with the objective of investigating the biological mechanisms underlying the relation between HTN and trauma exposure, identifying early signs of subclinical target organ damage in subjects with HTN with/without PTSD.DiscussionThis study will test the hypothesis that trauma exposure and psychological stress contribute to BP elevation and progression of CVD in this population. It will provide new evidence on the effect of an integrated management, including psychological therapy, on BP and cardiovascular risk. Such approach may be further tested and extrapolated to other populations exposed to war and chronic violence, migrants and refugees around the world.
Research Study Registrationnumber 2022/45/P/NZ5/02812.
Case Report: Left bundle branch pacing in an amyloid light-chain cardiac amyloidosis patient with atrioventricular block
Authors: Yu Jiaqi , Kong Fanyi , Gao Peng , Chen Taibo , Liu Yongtai , Cheng Zhongwei , Deng Hua , Lai Jinzhi , Zhang Lihua , Fan Jingbo , Wang Jiaqi , Qin Xiaohan , Sun Keyue , Li Jian , Fang Quan , Yang Deyan , Cheng Kang’an 
Published: January 2024

IntroductionAmyloid light-chain cardiac amyloidosis is a progressive infiltrative disease characterized by the deposition of amyloid fibrils in the cardiac tissue, which can cause serious atrioventricular block requiring pacemaker implantation. Left bundle branch pacing has emerged as an alternative method for delivering physiological pacing to achieve electrical synchrony of the left ventricle. However, left bundle branch pacing in patients with amyloid light-chain cardiac amyloidosis has not been studied in detail. Therefore, in this study, we present a case of left bundle branch pacing in a patient with amyloid light-chain cardiac amyloidosis.Case summaryA 66-year-old male patient with amyloid light-chain cardiac amyloidosis presented with syncope for 1 month. Holter monitoring revealed intermittent third-degree atrioventricular block. Left bundle branch pacing was performed successfully. During the 1-year follow-up, it was observed that the left bundle branch capture threshold remained stable without any pacemaker-related complications or left ventricle systolic dysfunction, and there was no recurrence of syncope.ConclusionLeft bundle branch pacing appears to be a safe and feasible option for patients with amyloid light-chain cardiac amyloidosis experiencing atrioventricular block.
Causal association of lipoprotein-associated phospholipids on the risk of sepsis: a Mendelian randomization study
Authors: Zeng Liying , Tang Haoxuan , Chen Jiehai , Deng Yijian , Zhao Yunfeng , Lei Hang , Wan Yufei , Pan Ying , Deng Yongqiang 
Published: January 2024

BackgroundMany previous studies have revealed a close relationship between lipoprotein metabolism and sepsis, but their causal relationship has, until now, remained unclear. Therefore, we performed a two-sample Mendelian randomization analysis to estimate the causal relationship of lipoprotein-associated phospholipids with the risk of sepsis.Materials and methodsA two-sample Mendelian randomization (MR) analysis was performed to investigate the causal relationship between lipoprotein-associated phospholipids and sepsis based on large-scale genome-wide association study (GWAS) summary statistics. MR analysis was performed using a variety of methods, including inverse variance weighted as the primary method, MR Egger, weighted median, simple mode, and weighted mode as complementary methods. Further sensitivity analyses were used to test the robustness of the data.ResultsAfter Bonferroni correction, the results of the MR analysis showed that phospholipids in medium high-density lipoprotein (HDL; ORIVW = 0.82, 95% CI 0.71-0.95, P = 0.0075), large HDL (ORIVW = 0.92, 95% CI 0.85-0.98, P = 0.0148), and very large HDL (ORMR Egger = 0.83, 95% CI 0.72-0.95, P = 0.0134) had suggestive causal relationship associations with sepsis. Sensitivity testing confirmed the accuracy of these findings. There was no clear association between other lipoprotein-associated phospholipids and sepsis risk.ConclusionsOur MR analysis data suggestively showed a correlation between higher levels of HDL-associated phospholipids and reduced risk of sepsis. Further studies are required to determine the underlying mechanisms behind this relationship.
A novel risk stratification model based on tumor size and multifocality to predict recurrence in pediatric PTC: comparison with adult PTC
Authors: Du Rui , Zhang Ying , Kou Jiedong , Li Jingting , Sui Chengqiu , Zhang Daqi , Fu Yantao , Zhou Le , Fu Qingfeng , Li Fang , Dionigi Gianlorenzo , Liang Nan , Sun Hui 
Published: January 2024

BackgroundPediatric papillary thyroid cancer presents with a more advanced stage of disease than adult PTC; and it is more likely to be aggresive and distant metastases, although the survival rate is high.MethodsA retrospective observational study was performed in children and adults with PTC. Fisher’s exact, chi-square, and rank-sum tests were used to examine the differences. Univariate and multivariate Cox regression analyses were applied to determine the possible risk factors for prognosis. A Kaplan-Meier curve analysis was performed to investigate the relationship between the clinicopathological characteristics and recurrence rate.ResultsThe study involved 156 children and 1,244 adults with PTC. Compared to the group without recurrence, proportions of tumors measuring &gt; 1 cm (48.3% vs. 90.9%) and multifocality (30.3% vs. 63.6%) were higher, N1b stage occurred more frequently (33.8% vs. 100%). However, among adult PTC patients, those with recurrence were older (76.1% vs. 59.4%) than those without recurrence. Risk factors for pediatric PTC recurrence included tumor size and multifocality. However, in adult PTC, the risk factor was LLNM. The newly constructed Stratification.N showed better performance, as illustrated by the fact that patients who were classified into Stratification.N 3 showed an obviously poorer prognosis (P=0.01 and P=0.00062), especially in those aged &gt;14 years (P=0.0052).ConclusionCompared with adult PTC, pediatric PTC showed unique characteristics in terms of clinical pathology and recurrence. Tumor size and multifocality were strong risk factors for pediatric PTC. Accordingly, the novel proposed risk stratification method could effectively predict the recurrence of pediatric PTC.
Effect of cadmium and lead on the morphology and protein profile of Calligonum comosum seeds
Authors: Alotaibi Modhi O. 
Published: January 2024

BackgroundSoils contaminated with heavy metals (HMs) pose a risk to human health via the food chain, as many edible plants absorb these metals. In turn, some of these plants could be used as phytoremediators for such soils. Calligonum comosum is an indigenous medicinal shrub that grows naturally in wide swaths of sandy soil in Saudi Arabia and has many advantages that render it a promising candidate for the treatment of HM-contaminated areas. But the impact of HM on this plant remains unknown, especially in the early stages of its development.ObjectiveThis investigation aimed to study the effects of lead (Pb) and cadmium (Cd) on the germination of C. comosum seeds under laboratory conditions, and assess the seeds’ response to these metals.MethodsThe C. comosum seed germination was monitored in Petri dishes containing Pb and Cd at increasing concentrations (25, 50, 75, and 100 µM) for up to 3 weeks. SDS-PAGE was used to examine the protein profile of germinated seeds and the western blot was used to assess the influence of HMs on the activities of the catalase enzyme and the beta subunit of ATP synthase (AtpB).ResultsThe germination rate and speed of C. comosum seeds were delayed by increasing concentrations of either Pb or Cd, but this effect was dose-dependent. SDS-PAGE analysis results revealed that exposure to both metals led to altered protein profiles as indicated by the resulting band intensities and disappearance of some proteins compared with the untreated controls. Further, the western blot analysis detected greater activity of catalase enzyme as well as AtpB in the Cd- and Pb-treated seeds.ConclusionC. comosum seeds treated with Cd or Pb enhance protein degradation and denaturation beside oxidative stress, leading to reduced seed viability. These results suggest oxidoreduction proteins and those involved in ATP synthesis are enhanced in C. comosum seeds in response to Cd and Pb stressors, which is a probable mechanism by which seeds may tolerate heavy metal stress.
Arbuscular mycorrhizal and ectomycorrhizal plants together shape seedling diversity in a subtropical forest
Authors: Chen Zhaoquan , Liu Wande , Lang Xuedong , Wang Minghui , Liu Jiao , Xu Chonghua 
Published: January 2024

IntroductionBurgeoning mycorrhizal research has focused on identifying the various diverse mycorrhizal strategies of forest communities. Mounting evidence suggests that mycorrhizae play important roles in regulating forest community structure and composition. However, research into the manifestation of this influence in the seedling stage is lacking, especially in small-scale plots.MethodsOur research utilized structural equation models parameterized using data from a subtropical monsoon broad-leaved evergreen forest situated in Yunnan Province, China.ResultsWe noted that seedlings included plants that utilized both arbuscular mycorrhizal (AM) and ectomycorrhizal (EM) fungi. More seedling plots with the relatively higher species diversity were the product of the mixed mycorrhizal strategy, meaning the coexistence of AM and EM seedlings in a small-scale plot rather than the dominance of one type of strategies. These mixed communities were primarily found on slopes and mountain ridges. The abundance of AM or EM trees indirectly affected seedling diversity by influencing the abundance of different mycorrhizal seedlings. In this case, the diversity of the mixed mycorrhizal community was also restricted by the level of leaf thickness in the community, followed by abiotic factors such as elevation, convexity, soil pH and soil available phosphorus.DiscussionThe effect of leaf thickness on mycorrhizal seedling abundance reflected the importance of water conditions in shaping seedling communities. The effect of convexity on seedling diversity also reflected the limitation of seedling communities by the distribution of humidity and heat conditions during topographic change. The results suggested that it is crucial to preserve seedling diversity via the mixed mycorrhizal strategy of communities in the subtropical forest.
Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
Authors: Bawatneh Abrar , Darwish Alaa , Eideh Hasan , Darwish Hisham M. 
Published: January 2024

Introduction: Diabetes Mellitus is a group of metabolic disorders characterized by hyperglycemia secondary to insulin resistance or deficiency. It is considered a major health problem worldwide. T1DM is a result of a combination of genetics, epigenetics, and environmental factors. Several genes have been associated with T1DM, including HLA, INS, CTLA4, and PTPN22. However, none of these findings have been based on linkage analysis because it is rare to find families with several diabetic individuals. Two Palestinian families with several afflicted members with variations in the mode of inheritance were identified and selected for this study. This study aimed to identify the putative causative gene(s) responsible for T1DM development in these families to improve our understanding of the molecular genetics of the disease.Methods: One afflicted member from each family was selected for Whole-Exome Sequencing. Data were mapped to the reference of the human genome, and the resulting VCF file data were filtered. The variants with the highest phenotype correlation score were checked by Sanger sequencing for all family members. The confirmed variants were analyzed in silico by bioinformatics tools.Results: In one family, the IGF1R p.V579F variant, which follows autosomal dominant inheritance, was confirmed and segregated in the family. In another family, the NEUROD1 p.P197H variant, which follows autosomal recessive inheritance, was positively confirmed and segregated.Conclusion:IGF1R p.V579F and NEUROD1 p.P197H variants were associated with T1DM development in the two inflicted families. Further analysis and functional assays will be performed, including the generation of mutant model cell systems, to unravel their specific molecular mechanism in the disease development.
Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case–control study based on the China Neonatal Genomes Project
Authors: Wang Xiao , Xiao Tiantian , Wang Jin , Wu Bingbing , Wang Huijun , Lu Yulan , Wang Yaqiong , Chen Bin , Hu Liyuan , Cao Yun , Zhang Rong , Cheng Guoqiang , Wang Laishuan , Li Zhihua , Dong Xinran , Yang Lin , Zhou Wenhao 
Published: January 2024

Objective: We aimed to investigate the clinical and genetic risk factors associated with neonatal severe unconjugated hyperbilirubinemia.Methods: This was a retrospective, 1:1 matched, case–control study. We included 614 neonates diagnosed with severe unconjugated hyperbilirubinemia (serum total bilirubin level ≥425 μmol/L or serum total bilirubin concentration that met exchange transfusion criteria) from the China Neonatal Genomes Project in Children’s Hospital of Fudan University. Clinical exome sequencing data were analyzed using a data analysis pipeline of Children’s Hospital of Fudan University. The factors associated with severe unconjugated hyperbilirubinemia were assessed using univariable and multivariable logistic regression analyses. Interaction analyses were examined between clinical and genetic risk factors.Results: ABO/Rh incompatibility hemolysis (odds ratio [OR] 3.36, 95% confidence interval [CI] 2.32–4.86), extravascular hemorrhage (OR 2.95, 95% CI 2.24–3.89), weight loss (OR 5.46, 95% CI 2.88–10.36), exclusive breastmilk feeding (OR 3.56, 95% CI 2.71–4.68), and the homozygous mutant of UGT1A1 211G&gt;A (OR 2.35, 95% CI 1.54–3.59) were all identified as factors significantly associated with severe unconjugated hyperbilirubinemia. The presence of UGT1A1 211G&gt;A mildly increased the risk of severe unconjugated hyperbilirubinemia caused by ABO/Rh incompatibility hemolysis (OR 3.98, 95% CI 2.19–7.23), although the effect is not statistically significant.Conclusion: ABO/Rh incompatibility hemolysis, extravascular hemorrhage, weight loss, exclusive breastmilk feeding, and the homozygous mutant of UGT1A1 211G&gt;A were found to be risk factors for severe unconjugated hyperbilirubinemia. Clinical factors remain the most crucial and preventable determinants in managing severe unconjugated hyperbilirubinemia, with a minimal genetic contribution. The establishment of preconception care practices and the reinforcement of screening for the aforementioned risk factors are essential steps for preventing severe unconjugated hyperbilirubinemia.
Genetically predicted circulating levels of cytokines and the risk of oral cavity and pharyngeal cancer: a bidirectional mendelian-randomization study
Authors: Wu Kehan , Sun Qianhui , Liu Dongxu , Lu Jiayi , Wen Deyu , Zang Xiyan , Gao Li 
Published: January 2024

Background: Epidemiological research has established associations between various inflammatory cytokines and the occurrence of oral cancer and oropharyngeal cancer (OCPC). We performed a Mendelian randomization (MR) analysis to systematically investigate the causal relationship between inflammatory cytokines and OCPC.Methods: We performed a bidirectional two-sample MR analysis using OCPC from 12 studies (6,034 cases and 6,585 controls) and genome-wide association study (GWAS) results for 41 serum cytokines from 8,293 Finns, respectively. Inverse variance weighting was used as the primary MR method and four additional MR methods (MR Egger, Weighted median, Simple mode, Weighted mode) were used to examine genetic associations between inflammatory traits and OCPC, and Cochran’s Q test, MR-Egger intercept, leave-one-out analysis, funnel plot, and multivariate MR (MVMR) analysis were used to assess the MR results.Results: The results suggested a potential association between high gene expression of Macrophage inflammatory protein-1α (MIP1α/CCL3) and an increased risk of OCPC (Odds Ratio (OR): 1.71, 95% Confidence Interval (CI): 1.09–2.68, p = 0.019). Increasing the expression levels of the interleukin-7 (IL-7) gene by 1 standard deviation reduced the risk of OCPC (OR: 0.64, 95%CI: 0.48–0.86, p = 0.003). In addition, multivariate Mendelian randomization analysis also showed the same results (MIP1α/CCL3, OR: 1.002, 95% CI: 0.919–1.092, p = 0.044; IL-7, OR: 0.997, 95% CI: 0.994–0.999, p = 0.011). Conversely, there was a positive correlation between genetic susceptibility to OCPC and an increase in Interleukin-4 (IL-4) (OR: 1.04, 95%CI: 1.00–1.08, p = 0.027).Conclusion: Our study systematically assessed the association between inflammatory cytokines and the risk of OCPC. We identified two upstream regulatory factors (IL-7 and CCL3) and one downstream effector factor (IL-4) that were associated with OCPC, offering potential avenues for the development of novel treatments.