bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome
Authors: Staykova Slavyana Yaneva , Atanasoska Maya , Gaydarova Maria , Balabanski Lubomir , Bradinova Irena , Vazharova Radoslava 
Published: August 2023

AbstractWe present a case of a 15-year-old girl, referred for genetic analysis based on clinical evidence of intellectual disability and dysmorphic features with unknown etiology. Following genetic testing, the proband was diagnosed with Alazami-Yuan syndrome (ALYUS). ALYUS is a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, poor speech, and congenital anomalies. Whole-genome sequencing and targeted analysis of 1,610 genes associated with intellectual disability and dysmorphic features were performed. One pathogenic homozygous missense variant in the TAF6 gene was identified (NM_139315.3:c.212T > C, p.Ile71Thr). The finding has been previously reported in scientific publications and detected in individuals with ALYUS. ALYUS occurs phenotypically in the presence of at least two pathogenic variants of the TAF6 gene in either homozygous or compound heterozygous state, regardless of the individual's sex. To date, seven patients from four families have been reported. To our knowledge, our proband is the first individual with ALYUS in Europe and in particular in Bulgaria. Clarification of our patient's genetic diagnosis provided precise genetic counseling for the family, allowed doctors to take appropriate measures for the proband's treatment, and gave options for disease prevention in the future offspring.
Micro-neurorrhaphy In peripheral Nerve injuries
Authors: Tripathi Prof. F.M. , Kesari Dr. R.S. , Rai Dr. A.K. , Prakash Dr. U. , Mishra Prof. S. 
Published: August 2023

AbstractResults of Repair under magnification, of 30 cases of peripheral nerve injuries of different nerves at different site, are presented. Success rate of the repair depends upon the meticulous care taken during surgery.
Perforator Based Reverse Radial Artery Forearm Flap (Prraff): Anatomical Studies and Clinical Applications
Authors: Rao S Hanmantha , Pramod N , Reddy D Mukunda 
Published: August 2023

SummaryA perforator based reverse radial artery forearm flap has been used from the volar and radial aspect of the distal forearm for coverage of raw areas near the wrist, distal forearm and hand in six cases. This was preceded by an anatomical study in ten cadaveric limbs concentrating on the position and size of the subcutaneous perforators from the radial artery in the distal half of the forearm. It revealed that there are constant perforators from the radial artery situated approximately 1, 3 and 7 cm. proximal to the radial styloid process and flaps could be raised based on the 1 cm and 3 cm perforators. We found this to be a reliable flap to cover small raw areas near the wrist and the proximal part of the hand, the main advantage being not sacrificing the main trunk of the radial artery.
Preparation of Recipient Areas When Skin Grafting for Camouflage of Static Localised Vitiligo
Authors: Vadodaria S , Kangesu T 
Published: August 2023

SummaryA prospective randomized study was undertaken in 50 patients with static localised vitiligo to determine the optimum thickness of the excision of patches of vitiligo prior to grafting with normally pigmented very thin split-thickness skin grafts.Recipient areas (diseased skin) were prepared in 1 of 5 different ways (n = 10 per group): Group 1, dermabrasion of epidermis alone; Group 2, shaving of thin partial-thickness skin; Group 3, shaving of medium partial-thickness skin; Group 4, excision of full-thickness skin alone and Group 5, excision of full-thickness skin with subcutaneous fat.After a minimum follow up of 6 months, results showed that in Groups 1 and 2, the skin grafts desquamated by the re-growth of epidermis from the recipient bed. In the Group 3, grafts were unsightly because of retention cysts and a prominent edge. In Group 5, grafts became hyper-pigmented and the grafted area was scalloped. Optimum results were obtained in Group 4 with best aesthetic appearance. Vitiligo patches are best treated by excision of full-thickness skin when resurfacing with normally pigmented thin split-thickness skin grafts.
Anthropogenic dust: sources, characteristics and emissions
Authors: Chen Siyu , Chen Junyan , Zhang Yue , Lin Jintai , Bi Hongru , Song Hongquan , Chen Yu , Lian Lulu , Liu Chuwei , Zhang Runbin 
Published: August 2023

Abstract
Anthropogenic dust (AD), as a crucial component of particulate matter, is defined as dust emitted through modifying or disturbing soil particles directly or indirectly associated with human activities in urban areas, croplands, pasturelands and dry lakes. The sources, characteristics, and impacts of AD remain poorly studied, in contrast to the large body of research on natural dust (ND). This review summarizes scientific findings published since the 1990s regarding the emissions, physical-chemical characteristics, and spatio-temporal distributions of AD from the micro to the global scale. AD accounts for 5%–60% of the global dust loading, with notable spread in existing estimates. Compared with ND, AD has more complex and variable compositions and physical-chemical properties. Influenced by human disturbances, AD exhibits small particle sizes, easily accessible critical friction velocity, and large emissions. Further research should improve the observations and simulations to investigate the complex interactions among AD, climate change, and human health.
Historical diffusion of nuclear, wind and solar power in different national contexts: implications for climate mitigation pathways
Authors: Vinichenko Vadim , Jewell Jessica , Jacobsson Johan , Cherp Aleh 
Published: August 2023

Abstract
Climate change mitigation requires rapid expansion of low-carbon electricity but there is a disagreement on whether available technologies such as renewables and nuclear power can be scaled up sufficiently fast. Here we analyze the diffusion of nuclear (from the 1960s), as well as wind and solar (from the 1980–90s) power. We show that all these technologies have been adopted in most large economies except major energy exporters, but solar and wind have diffused across countries faster and wider than nuclear. After the initial adoption, the maximum annual growth for nuclear power has been 2.6% of national electricity supply (IQR 1.3%–6%), for wind − 1.1% (0.6%–1.7%), and for solar − 0.8% (0.5%–1.3%). The fastest growth of nuclear power occurred in Western Europe in the 1980s, a response by industrialized democracies to the energy supply crises of the 1970s. The European Union (EU), currently experiencing a similar energy supply shock, is planning to expand wind and solar at similarly fast rates. This illustrates that national contexts can impact the speed of technology diffusion at least as much as technology characteristics like cost, granularity, and complexity. In the Intergovernmental Panel on Climate Change mitigation pathways, renewables grow much faster than nuclear due to their lower projected costs, though empirical evidence does not show that the cost is the sole factor determining the speed of diffusion. We demonstrate that expanding low-carbon electricity in Asia in line with the 1.5 °C target requires growth of nuclear power even if renewables increase as fast as in the most ambitious EU’s plans. 2 °C-consistent pathways in Asia are compatible with replicating China’s nuclear power plans in the whole region, while simultaneously expanding renewables as fast as in the near-term projections for the EU. Our analysis demonstrates the usefulness of empirically-benchmarked feasibility spaces for future technology projections.
Wild and cultivated comestible plant species in the Gulf of Mexico: phylogenetic patterns and convergence of type of use
Authors: Díaz-Toribio Milton H , de-Nova J Arturo , Piedra-Malagón Eva María , Angulo Diego F , Sosa Victoria 
Published: August 2023

Abstract
Cross-cultural research on edible plants might include ecological and evolutionary perspectives to understand processes behind species selection and management. With a database of approximately 500 comestible plants of the Province of the Gulf of Mexico in Mesoamerica, phylogenetic analyses are conducted to identify convergence and phylogenetic signal of type of use and significant clustering in the resulting phylogenetic trees. Analyses considered type of management (wild/managed vs. cultivated), type of use (edible, condiment, for wrapping food) and organ utilized. Elevated phylogenetic diversity and signal are expected for wild comestible taxa, indicating that people are using lineages across the angiosperm tree for food, resulting in broadness in diet and use of their regional resources. Main results are: (i) condiment species were identified in groups with an elevated phylogenetic signal; (ii) hot nodes for lineages utilized for wrapping food were found in many monocot groups as well as in epiphytes of cloud forests with leathery leaves; (iii) edible taxa were identified with the highest significant clustering restricted to certain branches in the phylogeny; (iv) wild and cultivated edible plants belong to identical lineages with replacement of species, implying that same plant groups known for their comestible benefits are substituted by species distributed in the Province and (v) wild versus cultivated lineages for condiment are different. Most food species in the Province belong to four families, namely Fabaceae, Cactaceae, Solanaceae and Asparagaceae. Analyses discovered underutilized wild species in identical clades to managed/cultivated taxa that can be studied further to identify cultivation practices. Results suggest that people are utilizing different lineages in the angiosperm tree available locally, for particular uses, like condiment or for wrapping food. Evidence can be used to study further undervalued edible species closely related to the most common food taxa as well as for bioprospection of their nutritional content.
A systematic benchmark of machine learning methods for protein–RNA interaction prediction
Authors: Horlacher Marc , Cantini Giulia , Hesse Julian , Schinke Patrick , Goedert Nicolas , Londhe Shubhankar , Moyon Lambert , Marsico Annalisa 
Published: August 2023

Abstract
RNA-binding proteins (RBPs) are central actors of RNA post-transcriptional regulation. Experiments to profile-binding sites of RBPs in vivo are limited to transcripts expressed in the experimental cell type, creating the need for computational methods to infer missing binding information. While numerous machine-learning based methods have been developed for this task, their use of heterogeneous training and evaluation datasets across different sets of RBPs and CLIP-seq protocols makes a direct comparison of their performance difficult. Here, we compile a set of 37 machine learning (primarily deep learning) methods for in vivo RBP–RNA interaction prediction and systematically benchmark a subset of 11 representative methods across hundreds of CLIP-seq datasets and RBPs. Using homogenized sample pre-processing and two negative-class sample generation strategies, we evaluate methods in terms of predictive performance and assess the impact of neural network architectures and input modalities on model performance. We believe that this study will not only enable researchers to choose the optimal prediction method for their tasks at hand, but also aid method developers in developing novel, high-performing methods by introducing a standardized framework for their evaluation.
Geographical variation in parasitoid communities and the cause of enemy-free space in a range-expanding myrmecophilous lycaenid butterfly
Authors: Nakabayashi Yui , Ohshima Issei 
Published: August 2023

Abstract
Range expansions of host species are likely to modify host–parasitoid interactions. Observational studies have indicated that host species in recently colonized areas are less frequently attacked by parasitoids; however, these studies did not determine whether traditional parasitoids can still use host populations in these areas. Thus, it is unclear why the host has escaped from their traditional parasitoids in their recently colonized areas. In this study, we examined the interaction between myrmecophilous lycaenid butterfly, Arhopala japonica, and its larval parasitoids in northern Japan, a recently colonised area. This region corresponds to a distribution of A. japonica, a myrmecophilous lycaenid butterfly. No parasitoids emerged from A. japonica larvae collected in the north, whereas six parasitoid species attacked the host larvae in native areas. Attacks from the braconid wasp Cotesia sp. near inducta were the most common; however, parasitism tests revealed that Cotesia sp. near inducta and other parasitoid species completed their development successfully regardless of origin of their butterfly hosts. Population genetic analyses supported the recent range expansion of both A. japonica and Cotesia sp. near inducta. These results suggest that both hosts and parasitoids have experienced recent population expansion; however, the more rapid range expansion of A. japonica has caused escape from the enemy in newly colonized areas.
Immigration of Lygus spp. (Hemiptera: Miridae) and predaceous natural enemies to trap-cropped organic strawberry
Authors: Nieto Diego J , Hagler James R , Swezey Sean L , Machtley Scott A , Bryer Janet A 
Published: August 2023

Abstract
Lygus spp. are polyphagous pests that overwinter in weedy vegetation. In the spring on the central coast of California, Lygus spp. emigrate from weeds into strawberry fields. Subsequent feeding on strawberry flowers causes fruit deformation that precludes sale on the fresh market. Use of alfalfa (Medicago sativa L.) (Fabales: Fabaceae) as a trap crop has been hypothesized to prevent Lygus spp. colonization in strawberries. We examined the movement of Lygus spp. and associated predators from weeds to strawberry fields with alfalfa trap crops using a protein mark–capture technique. Insects and spiders were collected from weeds, strawberry, and alfalfa 1 day, 2 days, and ~2 wk after an albumin protein mark was applied to weeds bordering strawberry fields. For marked Lygus spp. that emigrated from weeds, the majority (79%) of adults were recovered from alfalfa trap crops; however, all nymphs immigrated to strawberry. Most protein-marked predators immigrated to strawberry, rather than trap crops, resulting in a marked predator-to-Lygus spp. ratio of 5:1. Trap cropping effectively reduced the colonization of Lygus adults in strawberry. Converting weedy areas to native perennial plantings could further mitigate the risk of pest migration, while simultaneously conserving beneficial insects.
Mitochondrial superoxide dismutase Sod2 suppresses nuclear genome instability during oxidative stress
Authors: Gupta Sonia Vidushi , Campos Lillian , Schmidt Kristina Hildegard 
Published: August 2023

Abstract
Oxidative stress can damage DNA and thereby contribute to genome instability. To avoid an imbalance or overaccumulation of reactive oxygen species (ROS), cells are equipped with antioxidant enzymes that scavenge excess ROS. Cells lacking the RecQ-family DNA helicase Sgs1, which contributes to homology-dependent DNA break repair and chromosome stability, are known to accumulate ROS, but the origin and consequences of this oxidative stress phenotype are not fully understood. Here, we show that the sgs1 mutant exhibits elevated mitochondrial superoxide, increased mitochondrial mass, and accumulation of recombinogenic DNA lesions that can be suppressed by antioxidants. Increased mitochondrial mass in the sgs1Δ mutant is accompanied by increased mitochondrial branching, which was also inducible in wildtype cells by replication stress. Superoxide dismutase Sod2 genetically interacts with Sgs1 in the suppression of nuclear chromosomal rearrangements under paraquat (PQ)-induced oxidative stress. PQ-induced chromosome rearrangements in the absence of Sod2 are promoted by Rad51 recombinase and the polymerase subunit Pol32. Finally, the dependence of chromosomal rearrangements on the Rev1/Pol ζ mutasome suggests that under oxidative stress successful DNA synthesis during DNA break repair depends on translesion DNA synthesis.
Preliminary study to identify CXCR4 inhibitors as potential therapeutic agents for Alzheimer’s and Parkinson’s diseases
Authors: Tripathi Rahul , Kumar Pravir 
Published: August 2023

Abstract
Neurodegenerative disorders (NDDs) are known to exhibit genetic overlap and shared pathophysiology. This study aims to find the shared genetic architecture of Alzheimer’s disease (AD) and Parkinson’s disease (PD), two major age-related progressive neurodegenerative disorders. The gene expression profiles of GSE67333 (containing samples from AD patients) and GSE114517 (containing samples from PD patients) were retrieved from the Gene Expression Omnibus (GEO) functional genomics database managed by the National Center for Biotechnology Information. The web application GREIN (GEO RNA-seq Experiments Interactive Navigator) was used to identify differentially expressed genes (DEGs). A total of 617 DEGs (239 upregulated and 379 downregulated) were identified from the GSE67333 dataset. Likewise, 723 DEGs (378 upregulated and 344 downregulated) were identified from the GSE114517 dataset. The protein–protein interaction networks of the DEGs were constructed, and the top 50 hub genes were identified from the network of the respective dataset. Of the four common hub genes between two datasets, C-X-C chemokine receptor type 4 (CXCR4) was selected due to its gene expression signature profile and the same direction of differential expression between the two datasets. Mavorixafor was chosen as the reference drug due to its known inhibitory activity against CXCR4 and its ability to cross the blood–brain barrier. Molecular docking and molecular dynamics simulation of 51 molecules having structural similarity with Mavorixafor was performed to find two novel molecules, ZINC49067615 and ZINC103242147. This preliminary study might help predict molecular targets and diagnostic markers for treating Alzheimer’s and Parkinson’s diseases.
Insight Box Our research substantiates the therapeutic relevance of CXCR4 inhibitors for the treatment of Alzheimer’s and Parkinson’s diseases. We would like to disclose the following insights about this study. We found common signatures between Alzheimer’s and Parkinson’s diseases at transcriptional levels by analyzing mRNA sequencing data. These signatures were used to identify putative therapeutic agents for these diseases through computational analysis. Thus, we proposed two novel compounds, ZINC49067615 and ZINC103242147, that were stable, showed a strong affinity with CXCR4, and exhibited good pharmacokinetic properties. The interaction of these compounds with major residues of CXCR4 has also been described.
Ready to Manage a Global Pandemic? Explaining the Involvement of the EU in the 2013–2016 Ebola Outbreak
Authors: Bravo-Laguna Carlos 
Published: August 2023

Abstract
A virulent outbreak of Ebola Virus Disease killed thousands of individuals between December 2013 and June 2016. The risk of contagion among European Union (EU) citizens increased its salience to unprecedented levels for an outbreak that primarily affected sub-Saharan Africa. Considering the need for analyzing recent external transboundary outbreak responses in the post-COVID-19 era, this paper explains the involvement of the EU in the Ebola outbreak. By combining descriptive social network analysis with fourteen semi-structured interviews, it provides original insights into European politics and crisis management scholarship. The findings partially support theoretical expectations regarding the relevance of postcolonial ties and institutional frameworks in the reaction. It also suggests that neorealist literature fails to capture its full complexity. Hence, institutional deficiencies explain the low centrality and flawed coordination among EU actors in the response. Additionally, postcolonial ties with the affected countries facilitated the involvement of Western governments in the reaction. However, not all former colonial powers were equally involved in the response. Finally, countries that registered infections did not necessarily play central roles in this effort. These findings have broader implications for the involvement of the EU in future external outbreaks, including the need for establishing clearer and explicit allocations of competences.
Federated and distributed learning applications for electronic health records and structured medical data: a scoping review
Authors: Li Siqi , Liu Pinyan , Nascimento Gustavo G , Wang Xinru , Leite Fabio Renato Manzolli , Chakraborty Bibhas , Hong Chuan , Ning Yilin , Xie Feng , Teo Zhen Ling , Ting Daniel Shu Wei , Haddadi Hamed , Ong Marcus Eng Hock , Peres Marco Aurélio , Liu Nan 
Published: August 2023

Abstract

Objectives
Federated learning (FL) has gained popularity in clinical research in recent years to facilitate privacy-preserving collaboration. Structured data, one of the most prevalent forms of clinical data, has experienced significant growth in volume concurrently, notably with the widespread adoption of electronic health records in clinical practice. This review examines FL applications on structured medical data, identifies contemporary limitations, and discusses potential innovations.

Materials and methods
We searched 5 databases, SCOPUS, MEDLINE, Web of Science, Embase, and CINAHL, to identify articles that applied FL to structured medical data and reported results following the PRISMA guidelines. Each selected publication was evaluated from 3 primary perspectives, including data quality, modeling strategies, and FL frameworks.

Results
Out of the 1193 papers screened, 34 met the inclusion criteria, with each article consisting of one or more studies that used FL to handle structured clinical/medical data. Of these, 24 utilized data acquired from electronic health records, with clinical predictions and association studies being the most common clinical research tasks that FL was applied to. Only one article exclusively explored the vertical FL setting, while the remaining 33 explored the horizontal FL setting, with only 14 discussing comparisons between single-site (local) and FL (global) analysis.

Conclusions
The existing FL applications on structured medical data lack sufficient evaluations of clinically meaningful benefits, particularly when compared to single-site analyses. Therefore, it is crucial for future FL applications to prioritize clinical motivations and develop designs and methodologies that can effectively support and aid clinical practice and research.