bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sub-1-min relaxation-enhanced non-contrast non-triggered cervical MRA using compressed SENSE with deep learning reconstruction in healthy volunteers
Authors: Janssen Jan Paul , Kaya Kenan , Terzis Robert , Hahnfeldt Robert , Gertz Roman Johannes , Goertz Lukas , Skornitzke Stephan , Tristram Juliana , Dratsch Thomas , Goezdas Cansin , Kabbasch Christoph , Weiss Kilian , Pennig Lenhard , Gietzen Carsten Herbert 
Published: February 2025

Abstract

Background
We evaluated the acceleration of a three-dimensional isotropic flow-independent magnetic resonance angiography (MRA) (relaxation-enhanced angiography without contrast and triggering, REACT) of neck arteries using compressed SENSE (CS) combined with deep learning (adaptive intelligence, AI)-based reconstruction (CS-AI).

Methods
Thirty-four volunteers received 3-T REACT MRA, acquired threefold: (i) CS acceleration factor 7 (CS7), scan time 1:20 min:s; (ii) CS acceleration factor 10 (CS10), scan time 0:55 min:s; and (iii) CS-AI acceleration factor 10 (CS10-AI), scan time 0:55 min:s. Two radiologists rated the image quality of seven arterial segments and overall image noise. Additionally, a pairwise forced-choice comparison was conducted. Apparent signal-to-noise ratio (aSNR) and contrast-to-noise ratio (aCNR) were measured, and image sharpness was assessed using the edge-rise distance (ERD). Multiple t-tests and nonparametric tests with Bonferroni correction were performed for comparison to CS7 as the reference standard.

Results
Compared to CS7, CS10 showed lower image quality (p < 0.001) while CS10-AI obtained higher scores (p = 0.010). Image noise was similar between CS7 and CS10 (p = 0.138) while CS10-AI yielded a lower noise (p = 0.008). Forced choice revealed preferences for CS7 over CS10 (p < 0.001), but no preference between CS7 and CS10-AI (p > 0.999). Compared to CS7, aSNR and aCNR were lower in CS10 (p < 0.001) and the ERD was longer (p = 0.004), while CS10-AI provided better aSNR and aCNR (p = 0.001) and showed no difference in ERD (p = 0.776).

Conclusion
Sub-1-min CS-AI cervical REACT MRA was acquired without compromising image quality.

Relevance statement
The implementation of a fast and reliable non-contrast MRA has the potential to reduce costs and time while increasing patient comfort and safety. Clinical studies evaluating the diagnostic performance for stenosis or dissection are needed.

Trial registration
DRKS00030210 (German Clinical Trials Register; https://drks.de/)

Key Points

Deep learning reconstruction enables sub-1-min non-contrast-enhanced MRA of extracranial arteries.

Acceleration without deep learning reconstruction causes inferior image quality.

Acceleration with deep learning reconstruction exceeds, in part, the clinical standard.

Graphical abstract
Placental quantitative susceptibility mapping and T2* characteristics for predicting birth weight in healthy and high-risk pregnancies
Authors: Pishghadam Morteza , Haizler-Cohen Lylach , Ngwa Julius S. , Yao Wu , Kapse Kushal , Iqbal Sara N. , Limperopoulos Catherine , Andescavage Nickie N. 
Published: February 2025

Abstract

Background
The human placenta is critical in supporting fetal development, and placental dysfunction may compromise maternal-fetal health. Early detection of placental dysfunction remains challenging due to the lack of reliable biomarkers. This study compares placental quantitative susceptibility mapping and T2* values between healthy and high-risk pregnancies and investigates their association with maternal and fetal parameters and their ability to predict birth weight (BW).

Methods
A total of 105 pregnant individuals were included: 68 healthy controls and 37 high-risk due to fetal growth restriction (FGR), chronic or gestational hypertension, and pre-eclampsia. Placental magnetic resonance imaging data were collected using a three-dimensional multi-echo radiofrequency-spoiled gradient-echo, and mean susceptibility and T2* values were calculated. To analyze associations and estimate BW, we employed linear regression and regression forest models.

Results
No significant differences were found in susceptibility between high-risk pregnancies and controls (p = 0.928). T2* values were significantly lower in high-risk pregnancies (p = 0.013), particularly in pre-eclampsia and FGR, emerging as a predictor of BW. The regression forest model showed placental T2* as a promising mode for BW estimation.

Conclusion
Our findings underscore the potential of mean placental T2* as a more sensitive marker for detecting placental dysfunction in high-risk pregnancies than mean placental susceptibility. Moreover, the high-risk status emerged as a significant predictor of BW. These results call for further research with larger and more diverse populations to validate these findings and enhance prediction models for improved pregnancy management.

Relevance statement
This study highlights the potential of placental T2* magnetic resonance imaging measurements as reliable indicators for detecting placental dysfunction in high-risk pregnancies, aiding in improved prenatal care and birth weight prediction.

Key Points

Placental dysfunction in high-risk pregnancies is evaluated using MRI T2* values.

Lower T2* values significantly correlate with pre-eclampsia and fetal growth restriction.

T2* MRI may predict birth weight, enhancing prenatal care outcomes.

Graphical Abstract
Synchronous supratentorial and infratentorial choroid plexus papilloma: case report and review of the literature
Authors: Kulkarni Akshay V. , Konar Subhas , Nandeesh B. N. , Bhat Dhananjay I. 
Published: February 2025

Abstract

Background
Choroid plexus papilloma (CPP) occurs in children as a lesion usually in the lateral ventricle. It is an uncommon tumour in adults and occurs mostly in the 4th ventricle. Other locations in children and adults are relatively less common. Multiple choroid plexus papillomas (MCPPs) as well as ectopic choroid plexus papillomas are rare entities.

Case report
Hereby, we present a unique case of a 29-year-old male with two synchronous CPPs, one in the 4th ventricle and another lesion in the left temporal polar region. He was successfully treated with staged surgery and had a good outcome.

Conclusion
Staged surgery for resection of both or all the lesions, starting from lesion causing obstructive hydrocephalus or the largest lesion to the smaller ones, is a safe treatment option.
Intracranial Rosai–Dorfman disease: a retrospective review of seven consecutive cases
Authors: Ibrahim Aly , Elserry Tarek H. , Hewedi Iman , Khalil Hamdy , Moharram Husein , Abdel-Latif Assem M. 
Published: February 2025

Abstract

Background
Intracranial Rosai–Dorfman disease (RDD) is a rare entity that usually comes as a surprise diagnosis after surgery. Despite accumulating case reports, the management strategy remains unclear. In this article, we describe our cases series and summarize the pertaining literature with emphasis on different management modalities.

Methods
We conducted a retrospective review of all patients with intracranial Rosai–Dorfman disease operated at our department over a period of 13 years. Clinical, radiological, and surgical data of these patients were reviewed and summarized. We compared our data to those previously published in the literature about this rare disease.

Results
All our cases were dural-based extrinsic lesions mimicking meningioma except one cerebellar lesion. Six out of seven cases underwent gross total resection (GTR) and one subtotal resection. Histopathology was confirmed in all cases using immune histochemistry. No patient received adjuvant radio or chemotherapy. There was no local recurrence in any case. One case had distant recurrence.

Conclusions
Most intracranial RDD presentations are very similar to meningiomas either clinically or radiologically. The definite diagnosis is only confirmed through pathological examination. The rate of recurrence after GTR seems low either in our series or in the literature. There are currently insufficient data to support adjuvant treatment after surgical resection. In case of recurrence, the choice of effective therapeutic strategy is unclear.
Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis
Authors: Natarajan Srikrupa N. , Ansar Samdani , Sripriya Sarangapani , Parveen Sen , Gupta Ravi , Vetrivel Umashankar , Sinnakarupan Mathavan 
Published: February 2025

Abstract

Introduction
Inherited retinal diseases (IRDs) are a clinically and genetically heterogenous group where the robust advancement of next-generation sequencing technologies has facilitated genotype-assisted diagnosis. Leber congenital amaurosis (LCA) is a severe form of inherited retinal dystrophy that causes congenital blindness or near-blindness with a global prevalence of 3 per 100,000 live births.It is characterized by a loss of vision at birth or within the first few years of life with overlapping phenotypes to many syndromic and non-syndromic IRDs. With India's rich genetic heterogeneity, WES is a valuable tool for uncovering novel gene mutations linked to LCA. This genetic diversity expands our understanding of the disease's spectrum in the Indian population.

Methods
In our previous study, 92 Indian LCA families were screened through targeted resequencing, and 80% of probands exhibited mutations in known genes. Hence, the remaining 20% probands with additional family members (n = 40) were subjected to whole-exome sequencing. An in-house standard bioinformatics pipeline was used for variant calling and annotation. Homology modeling (Modeller-9.23) and molecular simulation were performed on an identified SLC6A6 gene variant that has not yet been associated with LCA to investigate its potential pathogenicity.

Results
Disease-causing pathogenic variants were identified in 15/20 families (75%) across 11 genes with 33% variants being novel. Among the identified 17 variants in 15 families, 35% were missense, 29% nonsense, 29% frameshift and 6% splice variants. Segregation analysis, control screening and in silico predictions confirmed the variant’s pathogenicity. All variants were classified as pathogenic according to ACMG guidelines. Homology modeling and molecular simulation in the membrane system for the p.Pro82Leu mutant in SLC6A6 protein showed significant modification in helical characteristics around the TM2 helix in the mutant, which could potentially hinder the regular function and cause disruption in taurine transport across the membrane leading to the disease.

Conclusion
Taurine being an essential amino acid for photoreceptor development and maintenance, our study suggests that mutation identified in SLC6A6 gene may cause LCA. This is the first report of SLC6A6 gene association with LCA and also the first case report in the Indian population.
Contrast-enhanced mammography compared to MRI for the diagnosis of multifocal and multicentric breast cancer: preoperative evaluation
Authors: Gouda Walaa , Yasin Rabab , Abo-hedibah Sherif , Yasin Mohamed 
Published: February 2025

Abstract

Background
Preoperative diagnosis of multifocal and multicentric breast cancer (MMBC) is crucial for surgical planning either for mastectomy or performing conservative management. Contrast-enhanced spectral mammography (CESM) is more applicable compared to MRI, yet it shows lower sensitivity in the evaluation of disease extension.

Aim of the work
To compare the diagnostic accuracy of CESM in the detection of additional suspicious lesions in patients with breast cancer and the diagnosis of the MMBC compared to contrast-enhanced magnetic resonance imaging (CE-MRI).

Results
This retrospective study was performed during the period between January 2020 and January 2024 including 60 patients diagnosed as breast cancer with suspected multifocality or multicentricity, and they all underwent both CESM and breast contrast-enhanced MRI for preoperative staging. CESM sensitivity, specificity and diagnostic accuracy for the diagnosis of additional lesions were estimated and compared to CE-MRI with significance which was considered (p value < 0.05). The postoperative pathological results were considered as the gold standard test.
Our study showed comparable sensitivity of CESM (97%), and slightly higher diagnostic accuracy (95%) compared to CE-MRI (sensitivity = 99% and diagnostic accuracy = 94%) with no significant differences and with significantly higher specificity (CESE = 67%& CE- MRI = 33%) making CESM another promising method of MMBC breast diagnosis providing similar dedicated morphological and functional description about the lesion.

Conclusions
CESM is a valuable imaging modality for evaluation and diagnosis of MMBC with comparable sensitivity and accuracy and higher specificity compared to MRI so it can be considered as a promising alternative technique to CE-MRI.
Close Encounters of the Anxious Kind
Authors: Venturi Tristan 
Published: February 2025

Abstract
This essay considers the shared ideological foundation underlying transfeminine exclusion from sports and transfeminine exclusion from dating. While biological advantage and sexual preference are often cited as indisputable, legitimate, and scientifically supported criteria for prohibiting transgender participation in these two domains, the author argues that both sports and dating operate according to fallacious cisheteronormative assumptions that work to ostracize sex/gender-transgressive bodies through three main practices: the exercise of suspicion, the legitimization of inspection, and the criminalization of nondisclosure.
Expanding the Repertoire of Trans Masculinities
Authors: Vipond Evan 
Published: February 2025

Abstract
Original Plumbing (OP) is a trans male quarterly zine cocreated and coedited by Amos Mac and Rocco Kayiatos. OP holds historical and cultural importance as a t4t publication made for trans men by trans men and serves as an entry point for theorizing trans masculine embodiments and subjectivities. Inspired by the format of OP, this piece brings together personal narrative, critical analysis, cover images, and an interview with OP's cocreator and coeditor, Amos Mac.
Patterns of Referral for Common Cancer Surgery in the United States
Authors: Montgomery Kelsey B. , Ross Elizabeth , Amu-Nnadi Chimaraije , Bhatia Smita , Broman Kristy K. 
Published: February 2025

Abstract

Background
Shifts in healthcare delivery have resulted in most U.S. hospitals participating in integrated health systems, many of which selectively refer complex cancer surgery to high-volume centers. However, this centralization may exacerbate barriers to access and may not be necessary for all cancer types. This study describes the prevalence and pattern of referral for surgery for common cancers and evaluate associated factors.

Methods
The National Cancer Database was used to identify adult patients who underwent curative-intent surgical resection between 2010 and 2020 for 12 common cancers (bladder, breast, colon, kidney, lung, melanoma, oral cavity, pancreas, prostate, rectum, thyroid, and uterus). The primary outcome was receipt of referred surgical cancer care.

Results
Overall, 5,406,813 patients underwent surgical resection for common cancers, with 33.7% referred for surgery after diagnosis elsewhere. Rates of referred surgery varied by disease site, ranging from 13.7% (bladder) to 58.2% (melanoma). On multivariable analysis, patients with melanoma, oral cavity, prostate, rectal, and uterine cancers (referent = breast), higher clinical stages, and increasing year of diagnosis had higher adjusted odds of referred surgical care. Nonacademic facility types, lower facility volume, higher comorbidity burden, and nonprivate insurance were associated with reduced odds of referred surgical care.

Conclusions
Likelihood of referred surgical cancer care increased over time for 11 of 12 common cancers, with the prevalence of referred care varying significantly based on disease site and sociodemographic factors. Future work evaluating associated clinical outcomes will aid in decisions regarding allocation of referral of surgical cancer care within health systems.
Prioritizing orthopaedic evidence uncertainties
Authors: Iken Annabelle R. , Gademan Maaike G. J. , Snoeker Barbara A. M. , Vliet Vlieland Thea P. M. , Poolman Rudolf W. 
Published: February 2025

AimsTo develop a multidisciplinary health research agenda (HRA) utilizing expertise from various disciplines to identify and prioritize evidence uncertainties in orthopaedics, thereby reducing research waste.MethodsWe employed a novel, structured framework to develop a HRA. We started by systematically collecting all evidence uncertainties from stakeholders with an interest in orthopaedic care, categorizing them into 13 sub-themes defined by the Dutch Orthopaedic Association (NOV). Subsequently, a modified two-phased Delphi study (two rounds per phase), adhering to the Conducting and REporting DElphi Studies (CREDES) guideline, was conducted. In Phase 1, board members assessed the collected evidence uncertainties on a three-point Likert scale to confirm knowledge gaps. In Phase 2, diverse stakeholders, including orthopaedic surgeons, rated the confirmed knowledge gaps on a seven-point Likert scale. Panel members rated one self-selected sub-theme and two randomly assigned sub-themes. The results from Phase 2 were ranked based on the overall average score for each uncertainty. Finally, a focus group discussion with patient associations’ representatives identified their top-ranked uncertainty from a predefined consensus process, leading to the final HRA. An advisory board, the Federation of Medical Specialists, and the NOV research coordinator oversaw the process.ResultsOf the 687 collected evidence uncertainties, 160 (zero to 33 per theme) were confirmed by 41 panel members (three to five per theme). In Phase 2, 124 panel members prioritized 41 evidence uncertainties (zero to five per theme). The focus group members identified 12 key evidence uncertainties leading to the final HRA. The remaining 29 evidence uncertainties will be addressed after research on the HRA’s prioritized evidence uncertainty is completed.ConclusionOur framework resulted in a multidisciplinary HRA, enabling an inclusive approach to consensus-building among healthcare professionals and patients on future research priorities within orthopaedic care. We anticipate this innovative framework will enhance inclusivity and transparency, leading to broader acceptance and optimized resource allocation, ultimately reducing research waste.Cite this article: Bone Jt Open 2025;6(2):206–214.
Coverage and contextual factors associated with insecticide-treated net use among women of reproductive age in Nigeria: evidence from the 2021 malaria indicator survey data
Authors: Barrow Amadou , Ogidan Oluwakemi Christie , Nzoputam Chimezie Igwegbe , Ekholuenetale Michael 
Published: February 2025

Nigeria continues to face a serious public health problem due to malaria, which contributes around 27% of all cases worldwide. Although insecticide-treated nets (ITNs) are essential interventions for preventing malaria, their use in Nigeria is still sub-optimal. Understanding the factors influencing ITN use is essential to improve malaria control strategies. This study aimed to investigate the prevalence of and factors associated with ITN use among women of reproductive age in Nigeria. We conducted a secondary data analysis of the 2021 Malaria Indicator Survey (NMIS). The sample included 14,476 women of reproductive age (15–49 years) from 567 clusters across Nigeria’s six geopolitical zones. Multilevel logistic regression was used to examine the contextual factors associated with ITN use, accounting for both fixed and random effects. Statistical significance was set at p<0.05, with 95% confidence intervals reported for all estimates. The weighted prevalence of ITN use was 41.5% (95% CI: 39.7, 43.3). The results showed Muslim women had 21% (aOR= 0.79; 95% CI: 0.67–0.94) lower odds of ITN use, when compared with the Christian women. Those who had living children were more likely to report ITN use, when compared with women with no child. The non-poor women had higher odds of ITN use, when compared with the poor women (aOR= 1.35; 95% CI: 1.19–1.52). In addition, women from multi-ethnic had 26% lower odds of ITN use, when compared with those from mono-ethnic community (aOR= 0.74; 95% CI: 0.57–0.94). The geographical region was significantly associated with ITN use among Nigerian women. Those from high-level community poverty had 53% reduction in the odds of ITN use, when compared with women from low-level community poverty (aOR= 0.47; 95% CI: 0.32–0.68). ITN use among women of reproductive age in Nigeria remained below the national target. Interventions to increase ITN use should consider the complex interplay of individual and community-level factors. Targeted strategies addressing socioeconomic disparities, leveraging cultural contexts, and implementing community-based approaches are crucial for improving ITN utilization and reducing the malarial burden in Nigeria.
Analysis of differential expression of matrix metalloproteinases and defensins in the nasopharyngeal milieu of mild and severe COVID-19 cases
Authors: Imtiaz Khekashan , Farooqui Nida , Ahmed Khalid , Zhamalbekova Alnara , Anwar Muhammad Faraz , Nasir Asghar , Ansar Zeeshan , Gul Khitab , Hussain Azhar , Sarría-Santamera Antonio , Abidi Syed Hani 
Published: February 2025

Introduction
A subset of COVID-19 disease patients suffers a severe form of the illness; however, underlying early pathophysiological mechanisms associated with the severe form of COVID-19 disease remain to be fully understood. Several studies showed the association of COVID-19 disease severity with the changes in the expression profile of various matrix metalloproteinases (MMPs) and defensins (DA). However, the link between the changes in the expression of MMPs and DA in the nasopharyngeal milieu during early phases of infection and disease severity remains poorly understood. Therefore, we performed differential gene expression analysis of MMPs and DA in the nasopharyngeal swab samples collected from normal (COVID-19 negative), mild, and severe COVID-19 cases and examined the association between MMP and DA expression and disease severity.

Material and method
A total of 118 previously collected nasopharyngeal samples from mild and severe COVID-19 patients (as per the WHO criteria) and 10 healthy individuals (COVID-19 negative, controls) were used in this study. A real-time qPCR assay was used to determine the viral loads and assess the mRNA expression of MMPs and DA. One-way ANOVA was applied to perform multiple comparisons (estimate differences) in MMPs and defensin gene expression in the normal vs mild vs severe groups. In addition, a multivariable logistic regression analysis was carried out with all the variables from the data set using ‘severity’ as the outcome variable.

Results
Our results showed that as compared to controls, DA1, DA3, and DA4 expression was significantly (p < 0.05) upregulated in the mild group, whereas the expression of DA6 was significantly downregulated in both mild and severe groups (p-value < 0.05). Similarly, compared to controls, the expression of MMP1 and MMP7 was significantly downregulated in both mild and severe groups, whereas MMP2 expression was upregulated in the mild group (p-value < 0.05). Additionally, the regression analysis showed that the expression of MMP1, MMP2, and MMP9 was significantly associated with the severity of the disease.

Conclusion
The early detection of changes in the expression of MMPs and defensins may act as a useful biomarker/predictor for possible severe COVID-19 disease, which may be useful in the clinical management of patients to reduce COVID-19-associated morbidity and mortality.