bluuebunny/crossref_metadata_2025_split huggingface dataset:
A comparative analysis of different transmission line fault detectors and classifiers during normal conditions and cyber‐attacks
Authors: Tusher Animesh Sarkar , Rahman M. A. , Islam Md. Rashidul , Hossain M. J. 
Published: June 2024

AbstractTransmission lines, the core part of the transmission and distribution system in the smart grid, require effective, efficient, and reliable protective measures against faults to avoid severe damage to physical infrastructure and financial losses. Due to their growing popularity, machine learning models are used in fault detection and classification, whose performances can be severely affected by cyber‐attacks due to their data dependency, posing a critical concern. Hence, this paper introduces false data injection attacks to address the vulnerability of machine learning‐based fault detectors and classifiers. A comparative study of 9 detection models and 6 classification models under normal conditions and during a combination of two models of false data injection attacks is presented to evaluate the severity of cyber‐attacks. Experimental results show that highly accurate models in normal conditions are more susceptible to cyber‐attacks, with up to 69% and 28% degradations in accuracy for fault detectors and classifiers, respectively. Furthermore, the detection models are found to be more vulnerable to cyber‐attacks than the classification models. With no robust detectors and classifiers being found, this work addresses the importance of developing attack‐resilient fault detection and classification schemes considering their academic and industrial significance.
Spot ignition of a wildland fire and its transition to propagation
Authors: Wang Supan , Thomsen Maria , Huang Xinyan , Fernandez-Pello Carlos 
Published: June 2024

Background The prediction of the propagation of wildland fires is an important socio-technical problem. Wildland fires are often initiated by small spot ignition sources and then spread to larger burning areas. Methods Experiments are conducted for the spotting ignition of a forest surface fuel (pine needles) in a relatively large (up to 1 m2), horizontal laboratory bed, and the subsequent fire spread without wind. The spotting ignition sources are a cluster of steel particles, an ember and a small pilot flame. Key results and conclusions Wildfire spread has an initial acceleration phase, with the growth of the burned area in the fuel bed following a power law dependence in time, almost independent of the ignition source. Comparison with previous larger-scale experiments and FARSITE modelling of the fire spread over similar fuel beds shows that the power function with time describes well the combined results of the initial wildfire growth and the transition to larger fire propagation for relatively long times. Implications The Rothermel equation under different environmental conditions may be extended to describe the initial accelerative growth of a spot fire. This work supports the modelling of fire propagation that currently is geared to a later time in the development of a wildfire.
msproteomics sitereport: reporting DIA-MS phosphoproteomics experiments at site level with ease
Authors: Pham Thang V , Henneman Alex A , Truong Nam X , Jimenez Connie R 
Published: June 2024

Abstract

Summary
Identification and quantification of phosphorylation sites are essential for biological interpretation of a phosphoproteomics experiment. For data independent acquisition mass spectrometry-based (DIA-MS) phosphoproteomics, extracting a site-level report from the output of current processing software is not straightforward as multiple peptides might contribute to a single site, multiple phosphorylation sites can occur on the same peptides, and protein isoforms complicate site specification. Currently only limited support is available from a commercial software package via a platform-specific solution with a rather simple site quantification method. Here, we present sitereport, a software tool implemented in an extendable Python package called msproteomics to report phosphosites and phosphopeptides from a DIA-MS phosphoproteomics experiment with a proven quantification method called MaxLFQ. We demonstrate the use of sitereport for downstream data analysis at site level, allowing benchmarking different DIA-MS processing software tools.

Availability and implementation
sitereport is available as a command line tool in the Python package msproteomics, released under the Apache License 2.0 and available from the Python Package Index (PyPI) at https://pypi.org/project/msproteomics and GitHub at https://github.com/tvpham/msproteomics.
Ash1l loss-of-function results in structural birth defects and altered cortical development
Authors: Toolan Kevin P , McGrath Brian T , Brinkmeier Michelle L , Camper Sally A , Bielas Stephanie L 
Published: June 2024

Abstract
The histone methyltransferase ASH1L plays a crucial role in regulating gene expression across various organ systems during development, yet its role in brain development remains largely unexplored. Over 130 individuals with autism harbour heterozygous loss-of-function ASH1L variants, and population studies confirm it as a high-risk autism gene. Previous studies on Ash1l deficient mice have reported autistic-like behaviours and provided insights into the underlying neuropathophysiology.
In this study, we used mice with a cre-inducible deletion of Ash1l exon 4, which results in a frame shift and premature stop codon (p.V1693Afs*2). Our investigation evaluated the impact of Ash1l loss-of-function on survival and craniofacial skeletal development. Using a tamoxifen-inducible cre strain, we targeted Ash1l knockout early in cortical development [Emx1-Cre-ERT2; embryonic Day (e) 10.5]. Immunohistochemistry was utilized to assess cortical lamination, while EdU incorporation aided in birthdating cortical neurons. Additionally, single-cell RNA sequencing was employed to compare cortical cell populations and identify genes with differential expression.
At e18.5, the proportion of homozygous Ash1l germline knockout embryos appeared normal; however, no live Ash1l null pups were present at birth (e18.5: n = 77, P = 0.90; p0: n = 41, P = 0.00095). Notably, Ash1l−/– exhibited shortened nasal bones (n = 31, P = 0.017). In the cortical-specific knockout model, SATB2 neurons showed increased numbers (n = 6/genotype, P = 0.0001) and were distributed through the cortical plate. Birthdating revealed generation of ectopically placed deep layer neurons that express SATB2 (e13.5 injection: n = 4/genotype, P = 0.0126). Single cell RNA sequencing revealed significant differences in gene expression between control and mutant upper layer neurons, leading to distinct clustering. Pseudotime analysis indicated that the mutant cluster followed an altered cell differentiation trajectory.
This study underscores the essential role of Ash1l in postnatal survival and normal craniofacial development. In the cortex, ASH1L exerts broad effects on gene expression and is indispensable for determining the fate of upper layer cortical neurons. These findings provide valuable insights into the potential mechanisms of ASH1L neuropathology, shedding light on its significance in neurodevelopmental disorders like autism.
Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor
Authors: Zhou Xun , He Runcheng , Zeng Sheng , Li Mingqiang , Pan Hongxu , Zhao Yuwen , Liu Zhenhua , Xu Qian , Guo Jifeng , Yan Xinxiang , Li Jinchen , Tang Beisha , Sun Qiying 
Published: June 2024

Abstract
There is an obvious clinical–pathological overlap between essential tremor and some known tremor-associated short tandem repeat expansion disorders. The aim is to analyse whether these short tandem repeat genes, including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, PPP2R2B, TBP, BEAN1, NOP56, DAB1, ATN1, SADM12 and FMR1, are associated with familial essential tremor patients. Genetic analysis of repeat sizes in tremor-associated short tandem repeat expansions was performed in a large cohort of 515 familial essential tremor probands and 300 controls. The demographic and clinical features among carriers of pathogenic expansions, intermediate repeats and non-carriers were compared. A total of 18 out of 515 (18/515, 3.7%) patients were found to have repeats expansions, including 12 cases (12/515, 2.5%) with intermediate repeat expansions (one ATXN1, eight TBP, two FMR1, one ATN1), and six cases (6/515, 1.2%) with pathogenic expansions (one ATXN1, one ATXN2, one ATXN8OS, one PPP2R2B, one FMR1, one SAMD12). There were no statistically significant differences in intermediate repeats compared to healthy controls. Furthermore, there were no significant differences in demographics and clinical features among individuals with pathogenic expansions, intermediate repeat expansions carriers and non-carriers. Our study indicates that the intermediate repeat expansion in tremor-associated short tandem repeat expansions does not pose an increased risk for essential tremor, and rare pathogenic expansion carriers have been found in the familial essential tremor cohort. The diagnosis of essential tremor based solely on clinical symptoms remains a challenge in distinguishing it from known short tandem repeat expansions diseases with overlapping clinical–pathological features.
Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
Authors: Gardner Oliver F W , Bai Tianshu , Baillie George S , Ferretti Patrizia 
Published: June 2024

Abstract
Members of the phosphodiesterase 4 (PDE4) enzyme family regulate the availability of the secondary messenger cyclic adenosine monophosphate (cAMP) and, by doing so, control cellular processes in health and disease. In particular, PDE4D has been associated with Alzheimer’s disease and the intellectual disability seen in fragile X syndrome. Furthermore, single point mutations in critical PDE4D regions cause acrodysostosis type 2(ACRDYS2, also referred to as inactivating PTH/PTHrP signalling disorder 5 or iPPSD5), where intellectual disability is seen in ∼90% of patients alongside the skeletal dysmorphologies that are characteristic of acrodysostosis type 1 (ACRDYS1/iPPSD4) and ACRDYS2. Two contrasting mechanisms have been proposed to explain how mutations in PDE4D cause iPPSD5. The first mechanism, the ‘over-activation hypothesis’, suggests that cAMP/PKA (cyclic adenosine monophosphate/protein kinase A) signalling is reduced by the overactivity of mutant PDE4D, whilst the second, the ‘over-compensation hypothesis’ suggests that mutations reduce PDE4D activity. That reduction in activity is proposed to cause an increase in cellular cAMP, triggering the overexpression of other PDE isoforms. The resulting over-compensation then reduces cellular cAMP and the levels of cAMP/PKA signalling. However, neither of these proposed mechanisms accounts for the fine control of PDE activation and localization, which are likely to play a role in the development of iPPSD5. This review will draw together our understanding of the role of PDE4D in iPPSD5 and present a novel perspective on possible mechanisms of disease.
Beyond sarcopenia: frailty in chronic haemodialysis patients
Authors: Souweine Jean-Sébastien , Pasquier Grégoire , Morena Marion , Patrier Laure , Rodriguez Annie , Raynal Nathalie , Ohresser Isabelle , Benomar Racim , Hayot Maurice , Mercier Jacques , Gouzi Farès , Cristol Jean-Paul 
Published: June 2024

ABSTRACTBackgroundFrailty, characterized by vulnerability, reduced reserves and increased susceptibility to severe events, is a significant concern in chronic haemodialysis (HD) patients. Sarcopenia, corresponding to the progressive loss of muscle mass and strength, may contribute to frailty by reducing functional capacity, mobility and autonomy. However, consensus lacks on the optimal bedside frailty index for chronic HD patients. This study investigated the influence of frailty on chronic HD patient survival and explored the associated factors.MethodsA total of 135 patients were enrolled from January to April 2019 and then followed up prospectively until April 2022. At inclusion, frailty was assessed by the Timed Up and Go (TUG) and Short Physical Performance Battery (SPPB) tests including gait speed, standing balance and lower limb muscle strength.ResultsFrom a total of 114 prevalent chronic HD patients (66% men, age 67.6 ± 15.1 years), 30 died during the follow-up period of 23.7 months (range 16.8–34.3). Deceased patients were older, had more comorbidities and a higher sarcopenia prevalence (P &lt; .05). The TUG and SPPB test scores were significantly reduced in patients who had died [SPPB total score: 7.2 ± 3.3 versus 9.4 ± 2.5; TUG time 8.7 ± 5.8 versus 13.8 ± 10.5 (P &lt; .05)]. Multivariate analysis showed that a higher SPPB score (total value &gt;9) was associated with a lower mortality risk [hazard ratio 0.83 (95% confidence interval 0.74–0.92); P &lt; .03). Each component of the SPPB test was also associated with mortality in univariate analysis, but only the SPPB balance test remained protective against mortality in multivariate analysis. Older age, lower handgrip strength and lower protein catabolic rate were associated with SPPB total scores &lt;9, SPPB balance score and TUG time &gt;10 s.ConclusionsScreening for frailty is crucial in chronic HD patients, and incorporating SPPB, especially the balance test, provides valuable insights. Diminished muscle strength and inadequate protein intake negatively influence the SPPB score and balance in chronic HD patients. Effective identification and management of frailty can therefore improve outcomes.CLINICAL TRIAL REGISTRATION: ClinicalTrials.govNCT03845452.
Effect of gout and diabetic kidney disease on renal cancer development in Korea
Authors: Chung Seung Min , Jung Inha , Lee Da Young , Park So Young , Yu Ji Hee , Moon Jun Sung , Seo Ji A , Han Kyungdo , Kim Nan Hee 
Published: June 2024

ABSTRACT

Background
Chronic kidney disease (CKD) and gout are risk factors for renal cancer. We analysed the effects of comorbid diabetic kidney disease and gout on renal cancer.

Methods
This retrospective cohort study enrolled 847 884 patients with type 2 diabetes mellitus (T2DM) who underwent health assessments provided by the Korean National Health Insurance Service in 2009. Based on CKD occurrence (glomerular filtration rate &lt;60 ml/min/1.73 m2) and gout (two outpatient visits or one hospitalization within 5 years), patients were classified into four groups: CKD−Gout− (87.5%), CKD−Gout+ (2.5%), CKD+Gout− (9.3%) and CKD+Gout+ (0.7%). Patients with incident renal cancer (International Classification of Diseases code C64) were followed up until December 2018.

Results
Renal cancer was diagnosed in 2376 patients (0.3%). Renal cancer incidence increased in sequential order of CKD−Gout− [0.29/1000 person-years (PY), CKD+Gout− and CKD−Gout+ (0.44 and 0.48/1000 PY, respectively) and CKD+Gout+ (1.14/1000 PY). Comorbid gout increased renal cancer risk depending on CKD occurrence {hazard ratio [HR] 1.28 [95% confidence interval (CI) 1.04–1.58 among those without CKD; HR 1.95 [95% CI 1.45–2.63] among those with CKD; P-value for interaction = 0.024}. The interaction was significant, particularly in men and patients with a shorter diabetes duration (&lt;5 years) and lesser medication use (no insulin or fewer than three classes of oral hypoglycaemic agents).

Conclusions
CKD and gout individually contributed to renal cancer incidence, and the risk is further increased when gout coexists with CKD. Screening for gout and appropriate management of CKD at an early T2DM stage may be beneficial.
ISTransbase: an online database for inhibitor and substrate of drug transporters
Authors: Peng Jinfu , Yi Jiacai , Yang Guoping , Huang Zhijun , Cao Dongsheng 
Published: June 2024

Abstract
Drug transporters, integral membrane proteins found throughout the human body, play critical roles in physiological and biochemical processes through interactions with ligands, such as substrates and inhibitors. The extensive and disparate data on drug transporters complicate understanding their complex relationships with ligands. To address this challenge, it is essential to gather and summarize information on drug transporters, inhibitors and substrates, and simultaneously develop a comprehensive and user-friendly database. Current online resources often provide fragmented information and have limited coverage of drug transporter substrates and inhibitors, highlighting the need for a specialized, comprehensive and openly accessible database. ISTransbase addresses this gap by amassing a substantial amount of data from literature, government documents and open databases. It includes 16 528 inhibitors and 4465 substrates of 163 drug transporters from 18 different species, resulting in a total of 93 841 inhibitor records and 51 053 substrate records. ISTransbase provides detailed insights into drug transporters and their inhibitors/substrates, encompassing transporter and molecule structure, transporter function and distribution, as well as experimental methods and results from transport or inhibition experiments. Furthermore, ISTransbase offers three search strategies that allow users to retrieve drugs and transporters based on multiple selectable constraints, as well as perform checks for drug–drug interactions. Users can also browse and download data. In summary, ISTransbase (https://istransbase.scbdd.com/) serves as a valuable resource for accurately and efficiently accessing information on drug transporter inhibitors and substrates, aiding researchers in exploring drug transporter mechanisms and assisting clinicians in mitigating adverse drug reactions
Database URL: https://istransbase.scbdd.com/
Systematic review of the perioperative classification, diagnosis, description and repair of hiatus hernias in randomized controlled trials
Authors: Abouelella Yasmin , Findlay John M 
Published: June 2024

Summary
Hiatus hernias (HH) are a common cause of symptoms and complications, with considerable variation in anatomy, function, diagnosis and treatment. We undertook the first systematic review to appraise how HH are diagnosed and classified in the literature, using randomized controlled trials as a sample. A search was performed in July 2021of the PubMed, EMBASE and Cochrane Central Register of Controlled Trials, and 2832 articles were identified and 64 were included. Median Jadad score was 2. Studies demonstrated considerable variation in diagnosis, classification and minimum surgical steps. The commonest classifications before surgery were axial length and the Type I-IV classification, variably assessed by endoscopy and contrast swallow. Intra-operatively, the commonest classification was type I-IV. A minority used more than one classification, or alternatives such as defect size and Hill classification. Most studies reported minimum steps, but these varied. Only a minority reported criteria for diagnosing recurrence. Using randomized controlled trials to appraise the highest quality evidence in the literature, we found considerable variation and inconsistency in the way HH are diagnosed and classified. This lack of a ‘common language’ has significant impacts for the generalizability of evidence, study synthesis and design. We propose the development of an internationally accepted classification. We wish to confirm that there are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome. We confirm that the manuscript has been read and approved by all named authors and that there are no other persons who satisfied the criteria for authorship but are not listed. We further confirm that the order of authors listed in the manuscript has been approved by all of us.
Causal models for longitudinal and panel data: a survey
Authors: Arkhangelsky Dmitry , Imbens Guido 
Published: June 2024

Summary
In this survey we discuss the recent causal panel data literature. This recent literature has focused on credibly estimating causal effects of binary interventions in settings with longitudinal data, emphasising practical advice for empirical researchers. It pays particular attention to heterogeneity in the causal effects, often in situations where few units are treated and with particular structures on the assignment pattern. The literature has extended earlier work on difference-in-differences or two-way fixed effect estimators. It has more generally incorporated factor models or interactive fixed effects. It has also developed novel methods using synthetic control approaches.
Rare secondary hypertension caused by compound heterozygous CYP17A1 mutations: a case report
Authors: Sun Jianying , Ma Tao , Jiang Tao , Ma Yazhe , Fan Jie 
Published: June 2024

Abstract

Background
17α-Hydroxylase deficiency, a rare form of congenital adrenal hyperplasia, presents diagnostic and treatment challenges because of the limited number of cases reported.

Case summary
This report discusses the case of a 17-year-old Chinese girl who suffered from unexplained dizziness, headaches, and high blood pressure. She had amenorrhoea during puberty and had been diagnosed with ovarian delay. Initially, she was diagnosed with hypertension and received three antihypertensive medications. However, her blood pressure remained poorly controlled. Gene sequencing revealed 17α-hydroxylase deficiency caused by compound heterozygous mutations in CYP17A1. One of the mutation sites, potentially novel, has not been reported previously. Subsequently, dexamethasone therapy was initiated, her blood pressure was controlled, and the symptoms disappeared. During the 1-year follow-up, her blood pressure remained normal, and the symptoms did not recur.

Discussion
17α-Hydroxylase deficiency is a rare cause of secondary hypertension. Despite the low prevalence, it should not be overlooked in younger patients.
Case series: successful salvage from refractory cardiogenic shock caused by COVID-19-associated myocardial injury with temporary ventricular assist devices
Authors: Tonai Kohei , Ohta-Ogo Keiko , Kainuma Satoshi , Tadokoro Naoki , Tsukamoto Yasumasa , Hatakeyama Kinta , Suzuki Tadaki , Fukushima Satsuki 
Published: June 2024

Abstract

Background
Coronavirus disease 2019 (COVID-19) is predominantly known to cause respiratory injury; however, the present case series highlights four instances in which the infection resulted in significant cardiac complications. Among such cases, some represent severe cardiogenic shock, which necessitates the immediate introduction of mechanical circulatory support (MCS) for salvage.

Case summary
This case series involved patients with COVID-19-associated myocardial injury leading to fulminant cardiogenic shock. These patients required immediate implementation of peripheral MCS, followed by an instant upgrade to a central MCS system due to anatomical limitations and severe biventricular dysfunction. Central MCS provided effective ventricular unloading, resulting in a significant and prompt improvement in ventricular function. The treatment timeline showed rapid deterioration followed by remarkable recovery within 2 weeks of MCS initiation, demonstrating the effectiveness of aggressive and tailored MCS strategies in managing severe COVID-19-related cardiac complications.

Discussion
This study provides significant insights into the cardiovascular implications of COVID-19, particularly in the context of severe myocardial injury that leads to cardiogenic shock. The report underscores the importance of early recognition and intervention in such cases, focusing on the use of MCS as a life-saving modality. The findings also revealed unique pathological features of COVID-19-associated myocardial injury, including macrophage-predominant infiltration and microthrombosis, which are distinct from the features of conventional myocarditis. These findings highlight the need for further research on the pathophysiology of COVID-19-related cardiac injuries and the development of targeted therapeutic strategies.