bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkers
Authors: Sergouniotis Panagiotis I , Diakite Adam , Gaurav Kumar ,   UK Biobank Eye and Vision Consortium, Allen Naomi , Aslam Tariq , Atan Denize , Barman Sarah , Barrett Jenny , Bishop Paul , Black Graeme , Braithwaite Tasanee , Carare Roxana , Chakravarthy Usha , Chan Michelle , Chua Sharon , Day Alexander , Desai Parul , Dhillon Bal , Dick Andrew , Doney Alexander , Egan Cathy , Ennis Sarah , Foster Paul , Fruttiger Marcus , Gallacher John , Garway-Heath David , Gibson Jane , Guggenheim Jeremy , Hammond Chris , Hardcastle Alison , Harding Simon , Hogg Ruth , Hysi Pirro , Keane Pearse , Khaw Peng Tee , Khawaja Anthony , Lascaratos Gerassimos , Littlejohns Thomas , Lotery Andrew , Luben Robert , Luthert Phil , Macgillivray Tom , Mackie Sarah , Madhusudhan Savita , Mcguinness Bernadette , Mckay Gareth , Mckibbin Martin , Moore Tony , Morgan James , O’Sullivan Eoin , Oram Richard , Owen Chris , Patel Praveen , Paterson Euan , Peto Tunde , Petzold Axel , Pontikos Nikolas , Rahi Jugnoo , Rudnicka Alicja , Sattar Naveed , Self Jay , Sergouniotis Panagiotis , Sivaprasad Sobha , Steel David , Stratton Irene , Strouthidis Nicholas , Sudlow Cathie , Sun Zihan , Tapp Robyn , Thomas Dhanes , Trucco Emanuele , Tufail Adnan , Viswanathan Ananth , Vitart Veronique , Weedon Mike , Williams Cathy , Williams Katie , Woodside Jayne , Yates Max , Yip Jennifer , Zheng Yalin , Birney Ewan , Fitzgerald Tomas 
Published: December 2024

Abstract

Motivation
Genome-wide association studies (GWAS) have been remarkably successful in identifying associations between genetic variants and imaging-derived phenotypes. To date, the main focus of these analyses has been on established, clinically-used imaging features. We sought to investigate if deep learning approaches can detect more nuanced patterns of image variability.

Results
We used an autoencoder to represent retinal optical coherence tomography (OCT) images from 31 135 UK Biobank participants. For each subject, we obtained a 64-dimensional vector representing features of retinal structure. GWAS of these autoencoder-derived imaging parameters identified 118 statistically significant loci; 41 of these associations were also significant in a replication study. These loci encompassed variants previously linked with retinal thickness measurements, ophthalmic disorders, and/or neurodegenerative conditions. Notably, the generated retinal phenotypes were found to contribute to predictive models for glaucoma and cardiovascular disorders. Overall, we demonstrate that self-supervised phenotyping of OCT images enhances the discoverability of genetic factors influencing retinal morphology and provides epidemiologically informative biomarkers.

Availability and implementation
Code and data links available at https://github.com/tf2/autoencoder-oct.
Preserved motion perception and the density of cortical projections to V5 in homonymous hemianopia
Authors: Sungkarat Witaya , Chaeyklinthes Thana , Thadanipon Kunlawat , Plant Gordon T , Jindahra Panitha 
Published: December 2024

Abstract
Following a unilateral post-chiasmal lesion of the geniculo-striate pathway, patients develop homonymous visual field defects. Using classical perimetry, patients with ‘complete’ homonymous hemianopia are unaware of stimuli in the affected hemifield. However, some show preserved vision in the affected hemifield in which the conscious perception of moving stimuli is preserved (Riddoch phenomenon). Prior evidence suggests that preservation of a direct pathway from the lateral geniculate nucleus to visual area 5 (bypassing the primary visual cortex) may be the basis of this type of residual vision. The aim of the present study was to investigate the possibility of a correlation between preserved motion perception in hemianopia and the fibre connectivity density of the underlying pathways. This research was a case-control study carried out in a tertiary care centre between 2019 and 2021. Participants (n = 48) were divided into two groups: patients with homonymous visual field defects (n = 20) and normal controls (n = 28). All participants underwent Humphrey field analysis (outcome = visual field index); kinetic perimetry (outcome = %correct); brain MRI; and diffusion tensor imaging probabilistic tractography (outcome = fibre connectivity density). The difference between %correct in kinetic perimetry and visual field index in Humphrey field analysis provided an indication of the level of preserved motion perception. A significant positive correlation was found between the fibre connectivity density of contralateral lateral geniculate nucleus-contralateral visual area 5 and the preserved motion perception (rho = 0.5965, P &lt; 0.0012) and between the fibre connectivity density of contralateral visual area 5-contralateral lateral geniculate nucleus and the preserved motion perception (rho = 0.5635, P &lt; 0.0012) after adjusting with the Bonferroni method. The area under the curve was 0.7947 for the preserved motion perception in reflecting the fibre connectivity density of contralateral lateral geniculate nucleus-contralateral visual area 5, and 0.7660 for the preserved motion perception in reflecting the fibre connectivity density of contralateral visual area 5-contralateral lateral geniculate nucleus. We have demonstrated an extensive network of pathways connecting visual areas in the two hemispheres via the splenium of the corpus callosum. To our knowledge, this is the first report of a correlation between the preserved motion perception and the fibre connectivity density of the pathways underlying the Riddoch Phenomenon (specifically bilateral lateral geniculate nuclei to visual area 5 contralateral to the lesion). The difference between %correct in kinetic perimetry and visual field index measures the preserved motion perception and is related to the underlying neural damage. The methodology has the potential to evaluate and monitor patients with hemianopia.
Reduced response to SARS-CoV-2 vaccination is associated with impaired immunoglobulin class switch recombination in SLE patients
Authors: Montamat Guillem , Meehan Claire E , Bradford Hannah F , Yıldırım Reşit , Guimarães Francisca , Johnson Marina , Goldblatt David , Isenberg David A , Mauri Claudia 
Published: December 2024

Abstract

Introduction
Systemic lupus erythematosus (SLE) patients exhibit B-cell abnormalities. Although there are concerns about reduced antibody responses to SARS-CoV-2 vaccines, detailed data on B-cell-specific responses in SLE remain scarce. Understanding the responsiveness to novel vaccine antigens, and boosters number, is important to avoid unnecessarily prolonged isolation of immunocompromised individuals. We assessed humoral and antigen-specific B-cell subset responses, including changes in isotype switching, prior to and after several doses of SARS-CoV-2 vaccines.

Methods
Blood samples were obtained prior to and after SARS-CoV-2 vaccination from cross-sectional and longitudinal cohorts of previously uninfected patients with SLE (n = 93). Healthy participants receiving SARS-CoV-2 vaccines were recruited as controls (n = 135). We measured serum antibody titres, their neutralizing capacity, and vaccine-specific memory B-cell subsets.

Results
Impaired IgG, IgA, and neutralizing responses against the original and various SARS-CoV-2 variants were observed following two doses of vaccine in SLE patients. Follow-up booster doses increased humoral responses compared to baseline, but they remained lower, with poorer neutralisation capacity against most strains, compared to healthy individuals after three or more doses. Analysis of memory B-cell subsets in SLE patients revealed an increase of SARS-CoV-2-specific isotype unswitched IgM+ over SARS-CoV-2-specific isotype switched IgG+/IgA+ memory B-cells compared to healthy individuals. Culturing healthy naive B-cells with high levels of IFNα, a hallmark of SLE pathogenesis, prevented B-cells from switching to IgG under IgG-polarizing conditions.

Conclusion
SLE patients’ protection against SARS-CoV-2 is overall impaired compared to healthy individuals and is associated with a class switch defect possibly due to chronic exposure of B-cells to IFNα.
Push toward pre-emptive kidney transplantation – for sure?
Authors: Cseprekal Orsolya , Jacquelinet Christian , Massy Ziad 
Published: December 2024

ABSTRACT
Pre-emptive kidney transplantation (PKT) has long been considered the optimal treatment for patients with end-stage chronic kidney disease (CKD) seeking the most favourable long-term outcomes. However, the significant growth in transplant procedures over recent decades has led to a notable increase in wait-listed patients and a disproportionate demand for donor organs. This situation necessitates a re-evaluation of transplantation timing and the establishment of rational indications from both societal and clinical perspectives. An increasing number of retrospective analyses have challenged the universal benefit of PKT, suggesting that premature indications for living or deceased donor PKT may not always yield superior hard outcomes compared with non-PKT approaches. Conventional predictive models have shown limitations in accurately assessing risks for certain subpopulations, potentially leading to significant disparities among wait-listed patients. To address these challenges, we propose the following considerations. Prediction models should not only optimize the distribution of our limited donor resources, but should also illuminate foreseeable risks associated with a potentially ‘unsuccessful’ PKT. Therefore, this article seeks to underscore the necessity for further discourse on the smouldering concept of when and for whom living or deceased donor PKT should be considered. Is it universally beneficial, or should the clinical paradigm be re-evaluated? In the endeavour to attain superior post-PKT survival outcomes compared with non-PKT or conservative treatment, it seems critical to acknowledge that other treatments may provide more favourable results for certain individuals. This introduces the intricate task of effectively navigating the complexities associated with ‘too early’ or ‘unsuccessful’ PKT.
Cerebral blood flow following successful living kidney transplantation: the VINTAGE study
Authors: Kobayashi Shuzo , Hidaka Sumi , Tanabe Kazunari ,   the VINTAGE Investigators, Yamano Mizuki , Mochida Yasuhiro , Muraoka Suguru , Mitomo Ayaka , Maruyama Haruka , Ishioka Kunihiro , Oka Machiko , Moriya Hidekazu , Ohtake Takayasu , Kobayashi Shuzo , Tanabe Kazunari , Imai Midori , Uchida Satomi , Yonemura Midori , Shimada Katsunori , Hidaka Sumi 
Published: December 2024

ABSTRACT

Background
Chronic kidney disease (CKD) is a significant risk factor for cerebrovascular disease. However, there is limited research on how successful living donor kidney transplantation (LDKT) affects cerebral blood flow (CBF). This study aims to comprehensively investigate how LDKT influences CBF across various brain levels and regions.

Methods
Data from 53 recipients between 2016 and 2020 were obtained from the VINTAGE study conducted at our hospital. CBF was measured by level and region using single-photon emission computed tomography (SPECT), according to the Talairach brain atlas. The primary endpoint was the mean difference in CBF before and 1-year post-LDKT. Subgroup analysis using traditional risk factors assessed the heterogeneity of the effect on CBF in the frontal lobe region.

Results
LDKT improved blood flow in the anterior cerebral artery and middle cerebral artery but had less impact on the posterior cerebral artery. The most consistent improvements were observed in the frontal lobe region {left frontal lobe: −0.12 [95% confidence interval (CI) −0.18 to −0.05], P &lt; .001; right frontal lobe: −0.13 [95% CI −0.21 to −0.05], P = .001}. Subgroup analysis showed a consistent effect of LDKT on frontal lobe CBF improvement, with no qualitative interaction observed.

Conclusions
LDKT contributes to the normalization of CBF, with improvement in anterior circulation and frontal lobe blood flow. To clarify the clinical significance of KT's CBF-improving effect, future studies should investigate the relationship between specific cognitive impairments (e.g. short-term memory, visuospatial ability, executive function) and CBF in each perfusion region.
Allopurinol use predicts lower LDL cholesterol in patients with pre-dialysis CKD - a prospective cohort study
Authors: Taskapan Hulya , Ma Haley , Taskapan Berkay , Tam Paul , Sikaneta Tabo 
Published: December 2024

Abstract

Background
Hyperuricemia influences lipid metabolism, yet relationships between urate-lowering therapy with allopurinol, serum urate, and lipid levels in patients with chronic kidney disease (CKD) remain underexplored.

Methods
This was a post-hoc analysis of 1,970 participants of the CAN AIM to PREVENT who had pre-dialysis CKD and were not receiving lipid-lowering therapy or febuxostat. Joint generalized structural equation modelling was used to investigate associations between allopurinol use (yes or no), serum urate (as a continuous or categorical variable (target if &lt;6 mg/dL or high if ≥6 mg/dL)), and lipid levels (total cholesterol, LDL-C, HDL-C, and triglycerides) assessed every 6 months for up to 3 years, along with time-to-event outcomes (death or initiation of renal replacement therapy), adjusting for demographic and clinical factors. Mediation analysis was used to determine allopurinol's direct and indirect effects (via urate) on lipid levels.

Results
Allopurinol use independently predicted lower total cholesterol (-7.94%, 95% CI: -12.13% to -3.54%, p&lt;0.001)) and LDL-C (-13.84%, (-21.14 to -5.87), p=0.001). Serum urate independently predicted a small increase in LDL-C (0.02% per mg/dL (0.009 to 0.03), p&lt;0.001). Patients on allopurinol with target urate had lower LDL-C compared to those not on allopurinol with target urate (-4.46% (-8.25 to -0.50), p=0.027) and those on allopurinol with high urate (-10.15% (-13.16 to -7.04), p&lt;0.001. Mediation analysis showed that serum urate indirectly mediated only 24% of the effect of allopurinol on LDL-C.

Conclusion
Allopurinol use predicted lower total and especially LDL cholesterol independently of serum urate in this cohort of patients with pre-dialysis CKD. Future studies could investigate underlying mechanisms, evaluate clinical implications, and confirm these findings in this and other populations.
CT-derived extracellular volume fraction in aortic stenosis, cardiac amyloidosis, and dual pathology
Authors: Kidoh Masafumi , Oda Seitaro , Tabata Noriaki , Kuyama Naoto , Oguni Tetsuya , Takashio Seiji , Hayashi Hidetaka , Yamaguchi Shinpei , Nakaura Takeshi , Nagayama Yasunori , Nakato Kengo , Izumiya Yasuhiro , Tsujita Kenichi , Hirai Toshinori 
Published: December 2024

Abstract

Aims
To investigate CT-derived extracellular volume fraction (CT-ECV) in patients with lone aortic stenosis (AS), dual pathology of AS and transthyretin cardiac amyloidosis (AS-ATTR), and lone ATTR, and to examine the diagnostic performance and optimal cut-off values of CT-ECV for differentiating between patients with lone AS and AS-ATTR and between patients with lone AS and lone ATTR.

Methods and results
This retrospective study included consecutive patients with severe AS (including lone AS and AS-ATTR) and lone ATTR who underwent CT-ECV analysis and technetium 99 m pyrophosphate (99mTc-PYP) scintigraphy. The diagnostic performance of CT-ECV for detecting cardiac amyloidosis was evaluated using the area under the receiver operating characteristic curve (AUC). Of 138 patients (mean age, 80 ± 8; 96 men), 55 had lone AS, 19 had AS-ATTR, and 64 had lone ATTR. CT-derived extracellular volume fraction of patients with lone AS was 31 ± 5%. CT-derived extracellular volume fraction was significantly lower in patients with AS-ATTR than lone ATTR (45 ± 12% vs. 53 ± 13%, P = 0.04). The AUC for differentiating patients with AS-ATTR from lone AS was lower than for lone ATTR from lone AS [0.90 (95% CI: 0.81, 0.96) vs. 0.95 (95% CI: 0.90, 0.98)]. The cut-off values of CT-ECV for differentiation between patients with lone AS and AS-ATTR were lower than those between patients with lone AS and lone ATTR [36.6% vs. 38.5% (Youden index)]. There was no significant difference in the proportion of 99mTc-PYP scintigraphy grade between patients with AS-ATTR and lone ATTR (P = 0.20).

Conclusion
Despite no significant difference in degree of ATTR between patients with AS-ATTR and lone ATTR, CT-ECV of patients with dual AS-ATTR pathology was significantly lower than that of patients with lone ATTR. The diagnostic performance and optimal cut-off values of CT-ECV for differentiating between patients with lone AS and AS-ATTR were lower than those between patients with lone AS and lone ATTR.
Successful transcatheter edge-to-edge repair for tricuspid regurgitation in a patient with a double-inlet left ventricle and discordant connections of the great arteries: a case report
Authors: Yamaguchi Masashi , Matsumoto Takashi , Ochiai Tomoki , Mizuno Shingo , Saito Shigeru 
Published: December 2024

Abstract

Background
In patients with adult congenital heart disease (ACHD), significant atrioventricular valve regurgitation is an important risk factor for poor outcomes, such as heart failure. However, in many cases, transcatheter intervention may reduce the risk profile to avoid a high surgical risk.

Case summary
A 44-year-old man with complex ACHD in the form of a double-inlet left ventricle, congenitally corrected transposition of the great arteries, pulmonary atresia, atrial septal defect, and patent ductus arteriosus was referred for the treatment of severe tricuspid regurgitation. He received an aortopulmonary shunt and a left-sided modified Blalock-Taussig shunt during childhood. Because of the patient’s high surgical risk due to seroma formation around the two shunts and intra-mediastinal collateral vessels, the heart team opted for transcatheter edge-to-edge repair (TEER) using a MitraClip (Abbott Vascular, Santa Clara, CA, USA). Tricuspid TEER was successfully performed using the MitraClip G4 system. The postoperative course was uneventful, with significant improvements in the New York Heart Association functional class.

Discussion
Our case demonstrates that tricuspid TEER can be an alternative option for patients with complex ACHD who are at high risk for conventional surgeries; however, careful assessment with multimodality imaging and a heart team approach, including a cardiologist, ACHD specialist, cardiac surgeon, anthologist, and intensivist, should be considered.
Successful implantation of cardiac resynchronization therapy in a patient with coronary sinus reducer using proximal coronary sinus branches: a case report
Authors: Costantino Jacopo , Zuccaro Lorenzo Maria , Romani Barbara , Rotolo Francesco Luigi , Porcelli Daniele 
Published: December 2024

Abstract

Background
The coronary sinus reducer (CSR) is a therapeutic option for patients with coronary artery disease who are not eligible for further revascularization and experience refractory angina. Cardiac resynchronization therapy (CRT) improves symptoms and prognosis in heart failure with reduced ejection fraction, but the presence of a CSR may complicate left ventricular lead placement. Only four cases have been reported so far in this context. This case report introduces a novel technique for left ventricular lead implantation in such patients.

Case summary
A 73-year-old man with a history of chronic coronary syndrome, coronary artery bypass surgery, angioplasties, and CSR implantation presented with heart failure symptoms. His ECG showed sinus rhythm and left bundle branch block (QRS 160 ms), and echocardiography revealed severe systolic dysfunction (ejection fraction 20%). During Cardiac Resynchronization Therapy-Defibrillator (CRT-D) implantation, venography revealed a suitable proximal tributary branch near the CSR, which was successfully used for lead placement without complications.

Discussion
The CSR has shown promise in relieving refractory angina. As ischaemic heart disease progresses, CRT may become necessary in patients with CSR. The CSR’s design can reduce the vascular lumen and complicate lead placement. Previous reports have confirmed the technical feasibility of CRT with CSR but lack long-term safety data. This case highlights that, under favourable anatomical conditions, proximal tributaries of the coronary sinus can be used for lead placement, potentially avoiding complications from reduced venous outflow.
Key priorities for the implementation of the 2023 ESC Guidelines for the Management of Cardiomyopathies in low resource settings
Authors: Jurcut Ruxandra , Barriales-Villa Roberto , Biagini Elena , Garcia-Pavia Pablo , Olivotto Iacopo , Protonotarios Alexandros , Arbustini Eloisa , Mogensen Jens , Elliott Perry , Arbelo Elena , Pablo Kaski Juan ,   Members of the Task Force for the 2023 ESC Guidelines for the management of cardiomyopathies, Basso Cristina , Bezzina Connie , Blom Nico , de Boer Rudolf , de Winter Tim , Flather Marcus , García-Pavía Pablo , Gimeno Juan R , Klaassen Sabine , Limongelli Giuseppe , Loeys Bart , Pantazis Antonis , Sharma Sanjay , Van Tintelen Peter , Ware James 
Published: December 2024

Abstract
ESC Guidelines provide best practice, evidence-based recommendations for diagnosing and treating patients with cardiovascular diseases. It is not always possible for best practices to be followed, however, particularly in low-resource settings. To address this issue, a set of guideline-related documents were created to identify key priorities for users in these settings. The documents highlight the related recommendations and describe key strategies for clinicians to approach implementation of these recommendations or discuss alternatives which are in line with the intention of the recommendations, if not having all of the same advantages. The suggestions cannot be used as exact substitutes for the original recommendations in the guidelines, which have not been altered and continue to reflect best practice.
This document on key priorities for low-resource settings was developed by the task force Chairs and other members of the task force which produced the 2023 ESC Guidelines for the management of cardiomyopathies, which are freely available on the ESC website (https://www.escardio.org/Guidelines). This document also underwent external review including international experts from within and beyond Europe and included non-ESC associations. The non-ESC associations were The Interamerican Society of Cardiology (IASC), The Pan-African Society of Cardiology (PASCAR), The Asian Pacific Society of Cardiology (APSC) and The Asean Federation of Cardiology (AFC).