bluuebunny/crossref_metadata_2025_split huggingface dataset:
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Authors: Stevens Christophe A. T. , Vallejo‐Vaz Antonio J. , Chora Joana R. , Barkas Fotis , Brandts Julia , Mahani Alireza , Abar Leila , Sharabiani Mansour T. A. , Ray Kausik K. 
Published: June 2024

BackgroundFamilial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to assess whether machine learning algorithms outperform clinical diagnostic criteria (signs, history, and biomarkers) and the recommended screening criteria in the United Kingdom in identifying individuals with FH‐causing variants, presenting a scalable screening criteria for general populations.Methods and ResultsAnalysis included UK Biobank participants with whole exome sequencing, classifying them as having FH when (likely) pathogenic variants were detected in theirLDLR,APOB, orPCSK9genes. Data were stratified into 3 data sets for (1) feature importance analysis; (2) deriving state‐of‐the‐art statistical and machine learning models; (3) evaluating models' predictive performance against clinical diagnostic and screening criteria: Dutch Lipid Clinic Network, Simon Broome, Make Early Diagnosis to Prevent Early Death, and Familial Case Ascertainment Tool. One thousand and three of 454 710 participants were classified as having FH. A Stacking Ensemble model yielded the best predictive performance (sensitivity, 74.93%; precision, 0.61%; accuracy, 72.80%, area under the receiver operating characteristic curve, 79.12%) and outperformed clinical diagnostic criteria and the recommended screening criteria in identifying FH variant carriers within the validation data set (figures for Familial Case Ascertainment Tool, the best baseline model, were 69.55%, 0.44%, 65.43%, and 71.12%, respectively). Our model decreased the number needed to screen compared with the Familial Case Ascertainment Tool (164 versus 227).ConclusionsOur machine learning–derived model provides a higher pretest probability of identifying individuals with a molecular diagnosis of FH compared with current approaches. This provides a promising, cost‐effective scalable tool for implementation into electronic health records to prioritize potential FH cases for genetic confirmation.
Advanced Atrioventricular Block in Athletes: Prevalence and Role of Anti‐Ro/Sjögren Syndrome–Related Antigen A Antibodies
Authors: Lazzerini Pietro Enea , Bertolozzi Iacopo , Cartocci Alessandra , Ginjupalli Vamsi Krishna Murthy , Teneggi Pietro Alberto , Pica Davide , Merico Giovanni , Bogazzi Irene , Salvini Viola , Accioli Riccardo , Salvadori Fabio , Marzotti Tommaso , Cevenini Gabriele , Capecchi Matteo , Cantara Silvia , Cantore Anna , Infantino Maria , Bisogno Stefania , Finizola Francesco , D'ascenzi Flavio , Laghi‐Pasini Franco , Acampa Maurizio , Capecchi Pier Leopoldo , Boutjdir Mohamed 
Published: June 2024

Background
Advanced atrioventricular block (AVB), that is, higher than second‐degree Mobitz‐1, is an abnormal finding in athletes. Despite intensive investigation, in several cases the pathogenesis remains unknown, but frequently pacemaker implantation is still indicated. Increasing evidence points to circulating anti‐Ro/Sjögren syndrome–related antigen A (SSA) antibodies cross‐reacting with L‐type calcium channel and inhibiting the related current as an epidemiologically relevant and potentially reversible cause of isolated AVB in adults.
The aim of the study was to determine the prevalence of anti‐Ro/SSA‐associated advanced AVBs in a large sample of young athletes.

Methods and Results
A total of 2536 consecutive athletes aged <40 years without a history of cardiac diseases/interventions were enrolled in a cross‐sectional study. Resting and exercise electrocardiography was performed, and those presenting any AVB were further evaluated by 24‐hour Holter ECG. Athletes with second‐degree AVBs and their mothers underwent anti‐Ro/SSA testing. Moreover, purified immunoglobulin G from subjects with anti‐Ro/SSA‐positive and anti‐Ro/SSA‐negative advanced AVB were tested on L‐type calcium current and L‐type‐calcium channel expression using tSA201 cells. The global prevalence of advanced AVB in the overall sample was ≈0.1%, but the risk considerably increased (2%) when intensely trained postpubertal male subjects were selectively considered. While none of the athletes with advanced AVB showed heart abnormalities, in 100% of cases anti‐Ro/SSA antibodies were detected. Ex vivo experiments showed that immunoglobulin G from anti‐Ro/SSA‐positive but not ‐negative subjects with advanced AVB acutely inhibit L‐type calcium current and chronically downregulate L‐type‐calcium channel expression.

Conclusions
Our study provides evidence that advanced AVB occurs in young athletes, in most cases associated with anti‐Ro/SSA antibodies blocking L‐type calcium channels. These findings may open new avenues for immunomodulating therapies to reduce the risk of life‐threatening events in athletes, avoiding or delaying pacemaker implantation.
Comparison of Endovascular Therapy and Open Surgical Revascularization in Patients With Acute Superior Mesenteric Artery Occlusion: A Large‐Scale Analysis Based on the JROAD‐DPC Database
Authors: Goto Daiki , Yanishi Kenji , Ozawa Takaaki , Yoshimura Jun , Kawamata Hirofumi , Fujioka Ayumu , Seki Tomotsugu , Zen Kan , Matoba Satoaki 
Published: June 2024

Background
Acute mesenteric ischemia is rare, and few large‐scale trials have evaluated endovascular therapy (EVT) and open surgical revascularization (OS). This study aimed to assess clinical outcomes after EVT or OS for acute superior mesenteric artery occlusion and identify predictors of mortality and bowel resection.

Methods and Results

Data from the Japanese Registry of All Cardiac and Vascular Diseases‐Diagnosis Procedure Combination (JROAD‐DPC) database from April 2012 to March 2020 were retrospectively analyzed. Overall, 746 patients with acute superior mesenteric artery occlusion who underwent revascularization were classified into 2 groups: EVT (n=475) or OS (n=271). The primary clinical outcome was in‐hospital mortality. The secondary outcomes were bowel resection, bleeding complications (transfusion or endoscopic hemostasis), major adverse cardiovascular events, hospitalization duration, and cost. The in‐hospital death or bowel resection rate was ≈30%. In‐hospital mortality (22.5% versus 21.4%,
P
=0.72), bowel resection (8.2% versus 8.5%,
P
=0.90), and major adverse cardiovascular events (11.6% versus 9.2%,
P
=0.32) were comparable between the EVT and OS groups. Hospitalization duration in the EVT group was 6 days shorter than that in the OS group, and total hospitalization cost was 0.88 million yen lower. Interaction analyses revealed that EVT and OS had no significant difference in terms of in‐hospital death in patients with thromboembolic and atherothrombotic characteristics. Advanced age, decreased activities of daily living, chronic kidney disease, and old myocardial infarction were significant predictive factors for in‐hospital mortality. Diabetes was a predictor of bowel resection after revascularization.

Conclusions
EVT was comparable to OS in terms of clinical outcomes in patients with acute superior mesenteric artery occlusion. Some predictive factors for mortality or bowel resection were obtained.

Registration

URL:
www.umin.ac.jp/ctr/
; Unique Identifier: UMIN000045240.
Framing Nonviolent Islamism: Hizb ut-Tahrir al-Islami, the Ukrainian State and the 2014 Annexation of Crimea
Authors: Shestopalets Denys 
Published: June 2024

Abstract
The article offers an analysis of the paradoxes and dilemmas in the relations between Hizb ut-Tahrir al-Islami (hti) and the Ukrainian state prior to and after the 2014 annexation of Crimea. In the first place, it traces the representations of hti by Ukrainian officials in the 2000s and early 2010s, as well as various measures adopted by the government for dealing with the group’s proliferation among Crimean Muslims. On the basis of this, the article reviews the responses of various Ukrainian government bodies and law enforcement agencies to the criminal prosecution of hti as a terrorist organisation by the Russian authorities in Crimea in the post-annexation period. In this respect, it demonstrates how hti cases were used as an important element in Ukraine’s strategy of returning control over the peninsula by rallying extensive international support against Russia’s violations of human rights. At the same time, it is an argument of this paper that, despite vocal protests against arrests and long prison sentences for the Crimean hizbis, the Ukrainian state and law enforcement remained deeply ambivalent vis-à-vis hti as a transnational Islamist organisation – a state of affairs which became particularly evident in the treatment of Russian and Central Asian hti members who sought political asylum in Ukraine.
U.S. Commercial Diplomacy Toward Turkey: Ambassador George C. McGhee’s Role in the Privatization of the Oil Business in the 1950s
Authors: Iplikci Murat 
Published: June 2024

Abstract
American diplomats occupied an important place in Turkish politics in the 1950s. They were not only highly valued by Turkish governments; they also participated in decision-making processes as advisers, especially in matters of commerce and privatization. This article focuses on one of these influential actors, George C. McGhee, who played a significant role in the denationalization of Turkey’s oil operations in March 1954. With a degree and business background in the oil sector and experience in the Turkish mission, McGhee was an effective commercial diplomat. Throughout his short tenure as ambassador, McGhee influenced Turkish leaders to privatize the oil sector. He mediated between the Turkish government and American lawyers specializing in oil bills, alongside American companies as possible investors. Shortly after he left the Turkish post, Turkey passed a law that privatized the oil sector.
From Laissez Faire to a Market Mechanism: the Formation of Housing Finance in Taiwan
Authors: Chen Yi-Ling 
Published: June 2024

Abstract
The literature on East Asian developmental states has mostly focused on economic policies; few studies have investigated how developmentalism affects urbanisation. This study addresses this gap by analysing the formation of a housing system by the developmental state and the role of the housing sector in the transition from an economic miracle in the 1960s to stagnation after the 1990s. Wang, Lee, and Chen (2017) argued that Taiwan’s state bureaucrats played a gradually diminishing role in directing the market. This article takes a different approach by arguing that the government’s interventions on housing intensified after the 1990s; housing finance sectors were formalised, squatters were removed, and interventions based on market mechanisms were employed to stimulate the housing market. However, the lack of an effective state intervention on housing made speculation difficult to control and created an obstacle to economic development. Such housing speculation increased social inequality.
Communicating the Links between Climate Change and Heat Waves with the Climate Shift Index
Authors: Thomas-Walters Laura , Goldberg Matthew H. , Lee Sanguk , Lyde Aidan , Rosenthal Seth A. , Leiserowitz Anthony 
Published: June 2024

Abstract
Extreme weather, including heat waves, poses a significant threat to ecosystems and human health. As global temperatures continue to rise, the frequency and severity of heat waves will increase. Because of this, communicating heat-related risks to the public is increasingly important. One commonly used communication tool is the Climate Shift Index (CSI), which establishes how much more likely an extreme weather event, such as a heat wave, has been made by climate change. To test the impact of the CSI on people’s understanding of the links between climate change and extreme weather, we conducted an experiment informing 3902 American adults that climate change made the July 2023 heat wave in the United States at least 5 times more likely. In addition to this standard CSI wording and two control messages, we also explored the effectiveness of reframing magnitude as a percentage and whether mechanistic and attribution explanations of the relationship between climate change and heat waves further increase understanding. All treatments increased the belief that climate change made the July 2023 heat wave more likely and is making heat waves in general more likely as well. Additionally, we found that expressing the magnitude as a percentage was more effective than the standard CSI framing. We also found that just talking about the heat wave, without mentioning climate change, was enough to change beliefs.
Foreword to the Special Issue on “Seafarer’s Mental Health and Well-Being”
Authors: Carrera-Arce María , Bartusevičienė Inga 
Published: June 2024

This special collection encompasses 10 articles that delve into the pressing aspects of seafarers’ well-being, mental health, and the workplace. The articles are categorized into 2 broad topics. The first topic, comprising 6 articles, scrutinizes the contributory factors to seafarers’ psychological well-being on board, covering sleep problems, food provisions, sexual abstinence, work-life balance, and psychosocial and work environment factors associated with seafaring. Four of these papers also focus on job satisfaction, work effectiveness, and retention in relation to seafarers’ psychological well-being. The second topic includes 4 articles on seafarers’ mental health assessment and promotion. These articles examine measurement tools for mental health, well-being, and resilience, as well as formal training and technology, including mobile apps, in seafarers’ health promotion and education. The insights gleaned from this special collection have the potential to significantly influence the practices of researchers, policymakers, and shipping companies. By shedding light on the need to enhance seafarers’ employment characteristics and address the health, safety, and well-being aspects of their work and life, this research can guide these stakeholders to better support seafarers in their crucial role as “key workers.”
The Subscapularis Healing Index: A New Scoring System for Predicting Subscapularis Healing After Arthroscopic Repair
Authors: Kilic Ali I. , Zuk Nicholas A. , Ardebol Javier , Galasso Lisa A. , Noble Matthew B. , Menendez Mariano E. , Denard Patrick J. 
Published: June 2024

Background: Previous research has emphasized the effect of prognostic factors on arthroscopic rotator cuff repair (ARCR) success, but a specific focus on subscapularis (SSC) tendon repair healing is lacking. Purpose: To identify prognostic factors for SSC healing after ARCR and develop the Subscapularis Healing Index (SSC-HI) by incorporating these factors. Study Design: Case-control study; Level of evidence, 3. Methods: This was a retrospective study using prospectively maintained data collected from patients with isolated or combined SSC tears who underwent ARCR between 2011 and 2021 at a single institution with a minimum 2-year follow-up. Functional outcomes were assessed using the American Shoulder and Elbow Surgeons (ASES) score, Subjective Shoulder Value (SSV), and visual analog scale (VAS) pain scale. SSC tendon healing was evaluated via ultrasound at the final follow-up. Multivariate logistic regression analysis was performed to determine the factors affecting SSC healing, and based on these factors, the SSC-HI, which ranges from 0 to 15 points, was developed using odds ratios (ORs). Results: Among 1018 ARCR patients, 931 met the inclusion criteria; 279 returned voluntarily for postoperative SSC ultrasound assessment. The overall healing failure rate was 10.8% (30/279). Risk factors for healing failure included female sex ( P = .008; OR, 3.119), body mass index (BMI) ≥30 ( P = .053; OR, 2.323), supraspinatus fatty infiltration ≥3 ( P = .033; OR, 3.211), lower SSC fatty infiltration ≥2 ( P = .037; OR, 3.608), and Lafosse classification ≥3 ( P = .007; OR, 3.224). A 15-point scoring system comprised the following: 3 points for female sex, 2 points for BMI ≥30, 3 points for supraspinatus fatty infiltration ≥3, 4 points for lower SSC fatty infiltration ≥2, and 3 points for Lafosse classification ≥3. Patients with ≤4 points had a 4% healing failure rate, while those with ≥9 points had a 55% rate of healing failure. Patients with a healed SSC reported significantly higher ASES (healed SSC: ΔASES, 44.7; unhealed SSC: ΔASES, 29; P < .01) and SSV (healed SSC: ΔSSV, 52.9; unhealed SSC: ΔSSV, 27.5; P < .01) and lower VAS (healed SSC: ΔVAS, –4.2; unhealed SSC: ΔVAS, –3; P < .01) scores compared with those with an unhealed SSC. Conclusion: The SSC-HI scoring system integrates clinical and radiological factors to predict SSC healing after surgical repair. Successful SSC healing was found to be associated with enhanced functional outcomes, underscoring the clinical relevance of SSC healing prediction in the management of these tears.
Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Authors: Bakhashab Sherin , Batarfi Asma A , Alhartani Mahinar M , Turki Rola , Mady Wessam 
Published: June 2024

Background: Polycystic ovary syndrome (PCOS) is a common endocrinological condition affecting women of reproductive age, associated with insulin resistance and obesity. PCOS pathogenesis is complex and multifactorial, involving genetic and environmental factors. Objectives: This study aimed to determine and compare genotype and allele frequencies of single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 ( APOA5; rs662799) and perilipin 1 ( PLIN1; rs894160, rs1052700 and rs6496589) genes in Western Saudi women to investigate their association with PCOS and its clinical characteristics. Design and methods: This was a case-control study conducted on women with ( n = 104) and without ( n = 87) PCOS. The SNPs were genotyped using TaqMan genotyping assays. Results: Significant and direct associations were detected between PCOS susceptibility and APOA5 SNP rs662799 and PLIN1 SNP rs894160 ( P < .001). For APOA5 SNP rs662799, women with the A allele were more likely to have PCOS (relative risk [RR] = 1.348, odds ratio [OR] = 2.313, P < .001) and hypertriglyceridaemia (OR = 17.0, P = .5) than women with the G allele. For PLIN1 SNP rs894160, women with the T allele were more likely to have PCOS than women with the C allele (RR = 8.043, OR = 7.427, P < .001). For PLIN1 SNP rs1052700, women with the TT genotype were more likely to have hyperandrogenism (OR = 29.75, P = .02) and an irregular period (OR = 0.07, P = .040) than women with the AT genotype. Conclusion: We identified novel alleles and genotypes contributing to the genetic risk of PCOS in the Western Saudi population.
Combination of DNA ploidy, stroma, and nucleotyping predicting prognosis and tailoring adjuvant chemotherapy duration in stage III colon cancer
Authors: Peng Jianhong , Zhang Weili , He Jiahua , Wang Weifeng , Li Weihao , Mao Lijun , Dong Yuejin , Lu Zhenhai , Pan Zhizhong , Zhou Chi , Wu Xiaojun 
Published: June 2024

Introduction: DNA ploidy (P), stroma fraction (S), and nucleotyping (N) collectively known as PSN, have proven prognostic accuracy in stage II colorectal cancer (CRC). However, few studies have reported on the prognostic value of the PSN panel in stage III colon cancer patients receiving capecitabine and oxaliplatin adjuvant chemotherapy. Objectives: This study aimed to validate PSN’s prognostic impact on stage III colon cancer, identifying candidates for optimized adjuvant chemotherapy duration. Design: A retrospective analysis was conducted on a cohort of stage III colon cancer patients from April 2008 to June 2020. Methods: Postoperative pathological samples from stage III colon cancer patients who underwent radical surgery and postoperative adjuvant chemotherapy at Sun Yat-sen University Cancer Center were retrospectively collected. Automated digital imaging assessed PSN, categorizing risk groups. Kaplan–Meier, Cox regression, and time-dependent receiver operating characteristic analysis compared model validity. Results: Significant differences in 5-year disease-free survival (DFS) and overall survival (OS) were noted among PSN-based low-, moderate-, and high-risk groups (DFS: 92.10% versus 83.62% versus 79.80%, p = 0.029; OS: 96.69% versus 93.99% versus 90.12%, p = 0.016). PSN emerged as an independent prognostic factor for DFS [hazard ratio (HR) = 1.409, 95% confidence interval (CI): 1.002–1.981, p = 0.049] and OS (HR = 1.720, 95% CI: 1.127–2.624, p = 0.012). The PSN model, incorporating perineural invasion and tumor location, displayed superior area under the curve for 5-year (0.692 versus 0.553, p = 0.020) and 10-year (0.694 versus 0.532, p = 0.006) DFS than TNM stage. In the PSN high-risk group, completing eight cycles of adjuvant chemotherapy significantly improved 5-year DFS and OS compared to four to seven cycles (DFS: 89.43% versus 71.52%, p = 0.026; OS: 96.77% versus 85.46%, p = 0.007). Conclusion: The PSN panel effectively stratifies stage III colon cancer, aiding in optimized adjuvant chemotherapy duration determination.
Identification of brain-enriched proteins in CSF as biomarkers of relapsing remitting multiple sclerosis
Authors: Wurtz Lincoln I. , Knyazhanskaya Evdokiya , Sohaei Dorsa , Prassas Ioannis , Pittock Sean , Willrich Maria Alice V. , Saadeh Ruba , Gupta Ruchi , Atkinson Hunter J. , Grill Diane , Stengelin Martin , Thebault Simon , Freedman Mark S. , Diamandis Eleftherios P. , Scarisbrick Isobel A. 
Published: June 2024

Abstract
Background
Multiple sclerosis (MS) is a clinically and biologically heterogenous disease with currently unpredictable progression and relapse. After the development and success of neurofilament as a cerebrospinal fluid (CSF) biomarker, there is reinvigorated interest in identifying other markers of or contributors to disease. The objective of this study is to probe the predictive potential of a panel of brain-enriched proteins on MS disease progression and subtype.

Methods
This study includes 40 individuals with MS and 14 headache controls. The MS cohort consists of 20 relapsing remitting (RR) and 20 primary progressive (PP) patients. The CSF of all individuals was analyzed for 63 brain enriched proteins using a method of liquid-chromatography tandem mass spectrometry. Wilcoxon rank sum test, Kruskal-Wallis one-way ANOVA, logistic regression, and Pearson correlation were used to refine the list of candidates by comparing relative protein concentrations as well as relation to known imaging and molecular biomarkers.

Results
We report 30 proteins with some relevance to disease, clinical subtype, or severity. Strikingly, we observed widespread protein depletion in the disease CSF as compared to control. We identified numerous markers of relapsing disease, including KLK6 (kallikrein 6, OR = 0.367, p < 0.05), which may be driven by active disease as defined by MRI enhancing lesions. Other oligodendrocyte-enriched proteins also appeared at reduced levels in relapsing disease, namely CNDP1 (carnosine dipeptidase 1), LINGO1 (leucine rich repeat and Immunoglobin-like domain-containing protein 1), MAG (myelin associated glycoprotein), and MOG (myelin oligodendrocyte glycoprotein). Finally, we identified three proteins—CNDP1, APLP1 (amyloid beta precursor like protein 1), and OLFM1 (olfactomedin 1)—that were statistically different in relapsing vs. progressive disease raising the potential for use as an early biomarker to discriminate clinical subtype.

Conclusions
We illustrate the utility of targeted mass spectrometry in generating potential targets for future biomarker studies and highlight reductions in brain-enriched proteins as markers of the relapsing remitting disease stage.