bluuebunny/crossref_metadata_2025_split huggingface dataset:
A monocenter study on pediatric Alport syndrome featuring nephrotic syndrome as the primary manifestation
Authors: Qian Pei 
Published: April 2024

Abstract

Background: Alport Syndrome (AS) is a genetic kidney disorder characterized by progressive kidney failure. It is often misdiagnosed as other kidney diseases due to its clinical phenotypic heterogeneity and the lack of specific clinical symptoms in early childhood.
Methods: This study retrospectively analyzed clinical data of 7 pediatric patients admitted to Xi'an Children's Hospital between 2016 and 2022 due to clinical manifestations of nephrotic syndrome.
Results: The 7 patients were from six families, and 4 patients had a family history of kidney disease. The median(IQR) age at presentation was 9.8 (7.8, 10.8) years and median follow-up was 4.4 (2.4–8.0) years.They all had hematuria, nephrotic proteinuria and hypoproteinemia. Kidney biopsy revealed focal segmental glomerulosclerosis (FSGS) on light microscopy. Among the patients, 8 pathogenic gene mutations were detected, 6 patients had mutations in the COL4A5gene. Furthermore, the mutations in 6 patients (85.7%) were severe.Treatment involved administering renin-angiotensin-aldosterone system (RAAS) inhibitors to all the patients starting from their first visit. Up to the present follow-up time, all the 7 patients exhibited varying degrees of reduction in proteinuria, with 1 of them experiencing kidney function decline, and 1 progressing to end-stage kidney disease (ESKD).
Conclusion: AS should be considered in patients co-exhibiting nephrotic syndrome and hematuria, especially those with a poor response to steroid therapy or with a family history of hematuria. Additionally, AS should be considered in the genetic diagnosis of patients with kidney pathology consistent with FSGS. The most common pathogenic gene in AS patients with nephrotic syndrome is the COL4A5 gene, and most of them have severe mutations.
A Genome-wide association study of panicle blast resistance (PBR) to Magnaporthe Oryzae in Rice
Authors: Jinlong Hu , Yu Zhang , Ruizhi Wang , Xiaoyu Wang , Zhiming Feng , Qiangqiang Xiong , Nianbing Zhou , Yong Zhou , Haiyan Wei , Hongcheng Zhang , Zhu Jinyan 
Published: April 2024

Abstract

Rice blast, caused by Magnaporthe Oryzae (M. oryzae), is one of the most serious diseases all over the world. Development of blast-resistant rice varieties can effectively control the damage of rice blast and reduce the application of chemical pesticides. In this study, 477 sequenced rice germplasms from 48 countries were inoculated and identified at booting stage. We found that 23 germplasms displayed high panicle blast resistance against M. oryzae. 43 quantitative trait loci (QTLs) significantly (P < 10− 4) associated with rice panicle blast resistance were identified by genome-wide association analysis (GWAS). These QTL intervals contain four genes (OsAKT1, OsRACK1A, Bsr-k1 and Pi25/Pid3) have been reported to be involved in rice blast resistance. We select QTLs with -Log10(Pvalue) higher than 6.0 or those detected in two-year replicates, totaling 12 QTLs, for candidate gene analysis. We identified three blast resistance candidate genes (Os06g0316800, Os06g0320000, Pi25/Pid3) based on the significant SNP distribution of annotated gene sequences in these 12 QTL and the difference of expression levels among blast resistant varieties after 72h inoculation. Os06g0316800 encodes a protein similar to Glycine-rich protein, an important component of plant cell walls involved in cellular stress responses and signaling, named as OsGrp6. Os06g0320000 encodes a protein of unknown function DUF953, belonging to the thioredoxin-like family, crucial for maintaining reactive oxygen species (ROS) homeostasis in vivo, named as OsTrxl1. Lastly, Pi25/Pid3 encodes a disease resistance protein, emphasizing its potential significance in plant biology. By analyzing the haplotypes of these 3 genes, we identified the favorable haplotypes with blast resistance, which will provide genetic resources for future rice blast resistance breeding.
MMIF: Multimodal medical image fusion network based on multi-scale mixed attention
Authors: Liu Jianjun , Wang Xiaohui , Sun Xiaoting , Li Yang 
Published: April 2024

Abstract

Multimodal image fusion plays an important role in image analysis and applications. Multimodal medical image fusion helps to combine contrast features from two or more input imaging modalities to represent fused information in a single image. One of the critical clinical applications of medical image fusion is to fuse anatomical and functional modalities for rapid diagnosis of malignant tissues. This paper proposes a multimodal medical image fusion network (MMIF-Net) based on multiscale mixed attention. The method first decomposes the original image to obtain the low-rank and significant parts. Then, to utilize the features at different scales, we add a multiscale mechanism that uses three filters of different sizes to extract the features in the encoded network. Also, a hybrid attention module is introduced to obtain more image details. Finally, the fused images are reconstructed by decoding the network. We conducted experiments with clinical images from brain computed tomography/magnetic resonance/. The experimental results show that the multimodal medical image fusion network method based on multiscale hybrid attention works better than other advanced fusion methods.
“Luck of the draw really”: A qualitative exploration of trainee doctors’ experiences of mandatory research in Australia and New Zealand
Authors: Brandenburg Caitlin , Hilder Joanne , Noble Christy , Liang Rhea , Forrest Kirsty , Joshi Hitesh , Keijzers Gerben , Mickan Sharon , Pearson David , Scott Ian A. , Veysey Emma , Stehlik Paulina 
Published: April 2024

Abstract

BackgroundMany medical trainees are required to complete a scholarly project to fulfil research curricula and achieve specialist status. The usefulness of this requirement has been the subject of debate. The aim of this study was to gain an in-depth understanding of trainees’ experiences and satisfaction of conducting mandatory scholarly projects in Australia and New Zealand.MethodsA qualitative descriptive approach was used. Semi-structured interviews with trainees were undertaken between May 2021 and June 2022. Australian and New Zealand medical trainees who had completed a scholarly project as part of specialty training within the past five years were invited to participate. The purposive sample was drawn from participants in a survey on the same topic who had indicated interest in participating in an interview. Interviews explored trainees’ overall experience of and satisfaction with conducting scholarly projects, as well as their perceptions of research training, support, barriers, enablers, and perceived benefits. Interviews were transcribed verbatim and thematically analysed.ResultsSixteen medical doctors from seven medical colleges were interviewed. Trainee experience and satisfaction was highly variable between participants and was shaped by four factors: 1) trainees entered their specialty training with their own perspectives on the value and purpose of the scholarly project, informed by their previous experiences with research and perceived importance of research in their planned career path; 2) in conducting the project, enablers including protected time, supervisor support and institutional structures, were vital to shaping their experience; 3) trainees’ access to these enablers was variable, mediated by a combination of luck, and the trainees’ own drive and research skill; and 4) project outcomes, in terms of scholarly success, learning, career benefits and impacts on patient care.ConclusionsTrainee experiences were mixed, with positive experiences often attributed to chance rather than an intentionally structured learning experience. We believe alternatives to mandatory trainee research projects must be explored, including recognising other forms of research learning activities, and directing scarce resources to supporting the few trainees who plan to pursue clinician researcher careers.
Hydrodissection and Femtosecond Laser Assisted Surgery in Posterior Polar Cataract
Authors: Assia Ehud I. , Nemet Arie Y. 
Published: April 2024

Abstract

Purpose:
To present our clinical experience using femtosecond laser-assisted cataract surgery (FLACS) and cortical cleavage hydrodissection in eyes with posterior polar cataract
Methods:
Medical records of consecutive10 eyes of 6 patients with clinical diagnosis of PPC, were retrospectively reviewed. All surgeries were done by using femtosecond laser-assisted cataract surgery (FLACS). In all cases careful hydrodissection was done to separate the lens material from the posterior capsule.
Results:
There were 3 men and 3 females, ages 39–73 years (average 52.5years), two of them were implanted with toric lenses. In all eyes hydrodissection was successfully performed and the lens material was separated from the lens capsule. The posterior capsule remained intact during nucleus removal in all cases. In one eye the posterior capsule broke during cortical cleaning and the tear was converted to posterior capsulorhexis (PCCC). No postoperative complications were recorded during follow-up in all eyes.
Conclusions:
Hydrodissection can be safely performed in eyes with posterior polar cataract with no evidence of a preexisting posterior capsule rent. Hydrodissection is regarded by most surgeons as contraindicated in these eyes however apparently it is more gentile to the capsule than any other surgical maneuver and allows clean and efficient separation of the lens material from the thinned posterior capsule. Femtosecond laser capsulotomy and lens fragmentation is effective and may further assist surgery by pneumo-separation of the lens material. Anterior chamber maintainer may further aid to the stability of the chamber and safety of surgery.
Melatonin alleviates palmitic acid–induced mitochondrial dysfunction by decreasing oxidative stress and enhancing autophagy combined in bovine endometrial epithelial cells
Authors: Wang Yi , Zhu Huabin , Zhao Shanjiang , Gong Jianfei , Heng Nuo , Hu Yingfan , Wang Rui , Wang Huan , He Wei , Zhu Ni , Hu Zhihui , Hao Haisheng 
Published: April 2024

Abstract

Background: Negative energy balance (NEB) typically occurs in dairy cows after delivery, with those in high yielding being more likely to experience significant NEB. Such metabolic imbalance could cause ketosis, which is often accompanied by a decline in reproductive performance, but the molecular mechanism has not been fully elucidated. During excessive NEB, the body fat is extensively broken down, resulting in abnormal accumulation of non-esterified fatty acids (NEFA), represented by palmitic acid (PA), within the uterus. Such an abnormal accumulation has the potential to damage bovine endometrial epithelial cells (BEECs), while the molecular mechanisms underlying its involvement in the PA-induced injury of BEECs is poorly understood. Melatonin (MT) is recognized for its regulatory role in maintaining the homeostasis of mitochondrial reactive oxygen species (mitoROS). However, less is known about whether MT could ameliorate the damage of PA on BEECs and its molecular mechanism.
Results: Our results demonstrated that 0.2 mM PA stress increased the level of cellular and mitochondrial oxidative stress. Further, we observed mitochondrial dysfunction, including an abnormal incidence of mitochondrial structure and respiratory function, reduction in mitochondrial membrane potential and mitochondrial copy number, which in turn induced apoptosis. Notably, we also found an upregulation of autophagy protein (PINK, Parkin, LC3B et al), however, the P62 protein was also increased. As we expected, 100uM MT pre-treatment attenuated PA-induced mitochondrial ROS and restored mitochondrial respiratory function. Meanwhile, pre-treated MT reversed the upregulation of P62 induced by PA and activate the AMPK-mTOR-Beclin-1 pathway, contributing to increase of autophagy and decline apoptosis.
Conclusions: These findings indicate that PA could induce mitochondrial dysfunction and also enhance autophagy in BEECs. In addition, MT is hypothesized to not only reduce mitochondrial oxidative stress but also facilitate the clearance of damaged mitochondria through the regulation of autophagy pathways, thereby safeguarding the mitochondrial pool and promoting cellular viability. Our study helps better understand the molecular mechanism involved in excessive NEB's impact on the fertility outcomes of high yielding dairy cows.
Transfusion independence after lenalidomide discontinuation in patients with del(5q) myelodysplastic syndrome: a HARMONY Alliance study
Authors:   Elena Cris&#x00E0, Díez-Campelo María , Germing Ulrich , Bally Cécile , Myllymäki Mikko , Jädersten Martin , Komrokji Rami , Kubasch Anne Sophie , Haase Detlef , Hofmann Wolf-Karsten , Ali Najla Al , Barraco Daniela , Bargay Joan , Bernal Teresa , López-Cadenas Félix , Calvisi Anna , Capodanno Isabella , Cerrano Marco , Ciancia Rosanna , Crugnola Monica , Kündgen Andrea , Finelli Carlo , Fozza Claudio , Frairia Chiara , Ebeling Freja , Ganster Christina , Jimenez Maria Jose , LATAGLIATA Roberto , Hernandez-Mohedo Francisca , Molero Antonieta , Mora Elvira , Vara Míriam , Perez Clara aparicio , Pietrantuono Giuseppe , Poloni Antonella , Pomares Helena , Recasens Valle , Rüfer Axel , Signori Alessio , Hellström-Lindberg Eva , Fenaux Pierre , Sanz Guillermo , Santini Valeria , Platzbecker Uwe 
Published: April 2024

Abstract

Lenalidomide (LEN) can induce RBC transfusion independence (RBC-TI) in 60–70% of del(5q) myelodysplastic syndrome (MDS) patients. Current recommendation is to continue LEN in responding patients until failure or progression, with likelihood of toxicity and a high cost for healthcare systems. This HARMONY Alliance study investigated the outcome of MDS del(5q) patients who discontinued LEN in RBC-TI. We enrolled 118 patients with an IPSS-R low-intermediate risk. Seventy patients (59%) discontinued LEN for intolerance, 38 (32%) per their physician decision, nine (8%) per their own decision and one (1%) for unknown reasons. After a median follow-up of 49 months from discontinuation, 50/118 patients lost RBC-TI and 22/30 who underwent cytogenetic re-evaluation lost complete cytogenetic response. The median RBC-TI duration was 56 months. In multivariate analysis RBC-TI duration after LEN discontinuation correlated with low transfusion burden before LEN therapy, treatment ≥ 12 LEN cycles, younger age and higher Hb level at LEN withdrawal. Forty-eight patients were re-treated with LEN for loss of response and 28 achieved RBC-TI. These data show that stopping LEN therapy in MDS del(5q) patients in RBC-TI allows prolonged maintenance of TI in a large subset of patients.
A comprehensive catalog encompassing 1376 species-level genomes reveals the core community and functional diversity of anammox microbiota
Authors: Wang Depeng , Meng Yabing , Huang Li-Nan , Zhang Xu-Xiang , Luo Xiaonan , Meng Fangang 
Published: April 2024

Abstract

Background
The anammox process plays a key role in nitrogen removal in environmentally friendly wastewater treatment plants. However, our comprehensive understanding of the anammox process is constrained by the limited taxonomic assignment and functional characterization of anammox microbiota, primarily due to the scarcity of high-quality genomes for most microorganisms.
Results
Here, we report the first global genome catalog of anammox microbiotas and their enormous diversity based on 236 metagenomes. We recovered 7206 metagenome-assembled genomes (MAGs) representing 1376 candidate species, providing extensive microbial coverage (averaged of 92.40%) of anammox microbiota. Analysis of the integrated catalog demonstrated significant associations between anammox microbiota and system type, e.g., coupled systems displayed high microbial diversity and intricate interspecies interactions. We also identified 64 core genera and 44 core species, accounting for approximately 64.25% and 43.97%, respectively, of anammox microbiota. In particular, the core genera with high species diversity exhibited diverse metabolic profiles, and included functional genes for nitrogen, carbohydrate, amino acid, and vitamin metabolism. Finally, we underscored the functional diversity of the denitrifying bacteria Desulfobacillus and Zeimonas, with multiple abundant species in each genus.
Conclusion
The integrated catalog substantially expands our current understanding of the core community and the functional potential of anammox microbiota, providing a valuable resource for future studies on anammox systems.
Transarterial chemoembolization plus radiofrequency ablation and iodine-125 seed implantation for hepatocellular carcinoma in high-risk locations: a propensity score-matched analysis
Authors: Zhang Guilin , Ren Yanqiao , Liu Jiayun , Cao Yanyan , Xiong Fu , Liang Bin , Zheng Chuansheng , Kan Xuefeng 
Published: April 2024

Abstract

Background & aims: The effect of transarterial chemoembolization (TACE) plus radiofrequency ablation (RFA) (TACE-RFA) for hepatocellular carcinoma (HCC) in high-risk locations is not satisfactory. The aim of this study was to compare the clinical outcomes of TACE-RFA plus iodine-125 (125I) seed implantation (TACE-RFA-125I) therapy with those of TACE-RFA for unresectable HCC (≤5 cm) in high-risk locations.
Methods: From January 2010 to June 2023, the clinical data of 126 patients with unresectable HCC (≤5 cm) in high-risk locations who received TACE-RFA-125I or TACE-RFA treatment were retrospectively analyzed. The clinical outcomes between the two groups were compared after propensity score matching (PSM) analysis.
Results: Forty-six pairs of patients were matched. The local progression-free survival rates at 1-, 2-, 3-, 4-, and 5-years were 100%, 82.4%, 74.8%, 63.5%, and 54% in the TACE-RFA-125I group, which were significantly higher than 91.3%, 69.4%, 50.7%, 29.4%, and 26.7% in the TACE-RFA group, respectively (p = 0.004). The median progression-free survival in the TACE-RFA-125I group was significantly longer than that in the TACE-RFA group (p = 0.002). The overall survival rates at 1-, 2-, 3-, 4-, and 5-years were 100%, 93.4%, 80.7%, 74.9%, and 64.7% in the TACE-RFA-125I group, which were significantly higher than 97.8%, 78%, 68.6%, 51.1%, and 45.3% in the TACE-RFA group, respectively (p = 0.011). There was no occurrence of major complications or procedure-related deaths in the two groups.
Conclusions: Compared with the TACE-RFA treatment, TACE-RFA-125I should be a more effective treatment strategy for patients with unresectable HCC (≤5 cm) in high-risk locations.
Feasibility Analysis of Hybrid Renewable Energy System for Power Generation in Pakistan
Authors: Fayyaz Kaynat , Raza Safdar , Hayyat Ahmad 
Published: April 2024

Abstract

In recent years power output from natural energy resources has increased dramatically. Mostly, wind and solar photovoltaicenergy have gotten more attention because they are more established technologies. Jamshoro is the city of Sindh whose geographic location provides sufficient renewable energy resources, enabling it to generate electricity without the need for fossil fuels. This study examines the feasibility of hybrid renewable energy sources to generate electricity by using 6 kW of wind, 4 kW of solar, and required battery backup bank. The simulation of this system is done using SAM software. This system is designed for 25-year project lifecycle. The study's findings indicate that the project's two main issues will be the cost of the solar photovoltaic modules and wind turbine generator.
Metallomic analysis of urine from individuals with and without Covid-19 infection reveals extensive alterations in metal homeostasis
Authors: Leal Ketolly Natanne Silva , Silva Ana Beatriz Santos , Fonseca Elisânia Kelly Barbosa , Moreira Olívia Brito Oliveira , Lemos Lúcio Marco , Oliveira Marcone Augusto Leal , Stewart Alan J. , Arruda Marco Aurélio Zezzi 
Published: April 2024

Abstract

Metal ions perform important functions in the body and their concentrations in cells and tissues are tightly controlled. Alterations in metal homeostasis can occur in certain disease states including infection. In this study urinary excretion of several metals including calcium, cadmium, cobalt, copper, iron, magnesium, nickel, selenium, and zinc in Covid-19 patients (n=35) and control (n=60) individuals, spanning ages and sexes. Urinary samples were analysed using ICP-MS and the differences in metal concentrations between the Covid-19-infected and control groups were assessed using multivariate data analysis and univariate data analysis employing Student's t-test and Pearson's correlation, with significance set at p<0.05. The urinary concentrations of all metals analysed were significantly higher in the Covid-infected group (compared to controls), with the exception of copper, which was markedly reduced. The increase in calcium excretion was lower and magnesium excretion greater in Covid-19-positive individuals aged 41 or over compared to those aged 40 or lower. Whilst the increase in iron excretion was lower, and cobalt excretion greater in Covid-19-positive males compared to females. The study highlights significant alterations in the handling of a range of metals in the body during Covid-19 infection. It also highlights both age and sex-specific differences in metal homeostasis. The results suggest an important role for copper in the body during Covid-19 infection and suggests that urinary concentrations of copper and other metals may serve as markers to predict progression of the disease.
Machine learning-based models for predicting overall and cancer specific survival in upper tract urothelial carcinoma: a retrospective cohort study
Authors: Pan Yijin , Ma Huan , Jiao Binbin , Ding Zhenshan , Zhang Yinqiang , Zhang Guan 
Published: April 2024

Abstract
Background
Upper tract urothelial carcinoma (UTUC) is a rare malignant tumor within the urinary system. This study aimed to establish personalized models for predicting the 1-, 2-, 3-, and 5-year overall survival (OS) and cancer specific survival (CSS) of patients with UTUC.
Methods
Data of 2614 cases were obtained from the Surveillance, Epidemiology, and End Results database and randomly divided into training and test datasets (split ratio=0.7:0.3). Uni- and multivariable COX regression analysis, least absolute shrinkage and selection operator (Lasso) regression analysis, and a backward stepwise process were employed to identify independent predictors. The importance of predictors was further assessed using Shapley’s Additive Explanations (SHAP). Six machine learning-based predictive models were then established and evaluated by the area under the receiver operating characteristic curves (AUC), and web calculators were developed to enhance the practicality of the best-performing model. (Software: R 4.3.0 and Python 3.10).
Results
Multivariable analysis showed that other races (HR=0.82, P=0.031), non-hispanic (HR =0.75, P=0.011), and localized lesion (HR=0.70, P=0.001) were risk factors. Lasso identified “sex, annual household income, months from diagnosis to treatment, tumor grade, T stage, side of the primary tumor, examination of lymph nodes, radiotherapy and chemotherapy” as independent predictors. The variance inflation factor (VIF) for variables was less than 5. Among the six machine learning models, the Extreme Gradient Boosting (XGBoost) performed the best, exhibiting good AUC values in both the training dataset (OS: 0.752-0.767; CSS: 0.785-0.795) and the test dataset (OS: 0.691-0.768; CSS: 0.728-0.792).
Conclusions
Integrating XGBoost with predictive models shows promise, and web calculators may enhance the practicality of models. In clinical settings, clinicopathological (including pT, tumor grade, and the scope of lesions) and demographic factors (including race, sex, and annual family income) are crucial for UTUC prognosis assessment. Treatment strategiesshould consider lymph node examination, radiotherapy and chemotherapy.