bluuebunny/crossref_metadata_2025_split huggingface dataset:
3D Technology for Autologous Breast Reconstruction: Increased Aesthetic Outcomes and Quality of Life Utilizing Patient-Specific Templates
Authors: Zaussinger Maximilian , Schwaiger Karl , Schwarzbauer Jürgen , Schwartz Bernhard , Holzbauer Matthias , Bachleitner Kathrin , Ehebruster Gudrun , Schmidt Manfred 
Published: January 2025

Abstract

Background
In autologous breast reconstruction accomplishing aesthetically pleasing outcomes represents an integral challenge. Three-dimensional (3D) technology may aid in accurate flap shaping and subsequent breast appearance.

Objectives
The aim of this study was to evaluate the applicability of 3-dimensional technology for surgical planning and its influence on outcomes for breast reconstruction.

Methods
Outcomes of 50 female patients who underwent deep epigastric artery perforator flap breast reconstruction were analyzed. The patient population was divided into 2 study groups (with 3D technology vs without), including 25 patients each. Based on individual 3D scans and simulations, patient-specific templates were utilized intraoperatively in the 3D group. Quality of life assessment and aesthetic evaluations of breast appearance were statistically evaluated and compared.

Results
Various scales of the BREAST-Q showed statistically significantly better values in the 3D group (P &lt; .05). Concerning breast appearance, patients with 3D technology rated their breast shape and projection statistically significantly higher compared to the control group (P &lt; .05). In addition, blinded ratings of external plastic surgeons were statistically significantly higher related to shape, symmetry, and projection of breasts with 3D technology (P &lt; .05). All patients treated with 3D technology–assisted breast reconstruction strongly recommended this approach.

Conclusions
Patient-specific templates represent a practical method for facilitating personalized flap planning and shaping. Results demonstrated that 3D technology significantly enhances breast reconstruction outcomes concerning aesthetics and postoperative quality of life.

Level of Evidence: 3 (Therapeutic)
Evaluating Real-world Use and Adverse Events From 3262 Patients Treated With 18,203 Cycles of Cryolipolysis for Localized Fat Reduction: A Multilocation Practice Retrospective Chart Review
Authors: Friedmann Daniel P , Kommera Jatin , Durga Prishita , Shashidhar Amogh , Verma Kritin K 
Published: January 2025

Abstract

Background
Cryolipolysis is an established method for noninvasive focal subcutaneous fat reduction.

Objectives
The aim of this study was to highlight the safety and real-world use of this technology.

Methods
The electronic medical records of all patients treated with a commercially available cryolipolysis technology (CoolSculpting and CoolSculpting Elite, Allergan Aesthetics, Irvine, CA) between January 2016 and June 2023 at a multilocation group practice were retrospectively reviewed. Extracted procedure-related data included number of total sessions and cycles, number of sessions and cycles per body area, and treatment-related adverse events. A cycle was defined as 1 applicator treating 1 body area.

Results
In total, 3262 patients (2797 female, 465 male) treated with 18,203 cycles across 6245 sessions were included. The mean [standard deviation] age at first treatment was 45.0 [12.8] years (range, 15-83 years). The mean number of cycles per patient was 5.6 [6.5] (range, 1-177), with a median of 4 cycles per patient. The mean number of sessions per patient was 1.9 [1.7] (range, 1-38), with a median of 1 session per patient. The most commonly treated area was the lower abdomen (n = 1761, 4734 cycles), and the most frequently treated body area combination was the upper/mid + lower abdomen (n = 937, 5140 cycles). Dual submental treatment was more common than single applicator therapy. Eighty-seven patients exhibited 180 adverse events (2.05% of cycles), including 3 body areas (n = 2) with paradoxical adipose hyperplasia.

Conclusions
This retrospective chart review of cryolipolysis treatment, among the largest to date, demonstrates its overall safety and broad use across numerous body areas. The paradoxical adipose hyperplasia risk per cycle is between 0.018% (1 in 5501) and 0.048% (1 in 2063), depending on the calculation method.

Level of Evidence: 4 (Therapeutic)
Multi-view multi-level contrastive graph convolutional network for cancer subtyping on multi-omics data
Authors: Yang Bo , Cui Chenxi , Wang Meng , Ji Hong , Gao Feiyue 
Published: January 2025

Abstract
Cancer is a highly diverse group of diseases, and each type of cancer can be further divided into various subtypes according to specific characteristics, cellular origins, and molecular markers. Subtyping helps in tailoring treatment and prognosis accuracy. However, the existing studies are more concerned with integrating different omics data to discover potential connections, but ignoring the relationships between consensus information and individual information within each omics level during the integration process. To this end, we propose a novel fusion-free method called multi-view multi-level contrastive graph convolutional network (M$^{2}$CGCN) for cancer subtyping. M$^{2}$CGCN learns multi-level features, i.e. high-level and low-level features, respectively. The low-level features from each view capture the intrinsic information in each omics by reconstruction of node attribute and graph structures. The high-level features achieve cancer subtyping via contrastive learning. Comprehensive experiments were performed on 34 multi-omics cancer datasets. The findings indicate that M$^{2}$CGCN achieves results comparable to or surpassing many state-of-the-art methods.
Assessment of the functionality and usability of open-source rare variant analysis pipelines
Authors: Riccio Cristian , Jansen Max L , Thalén Felix , Koliopanos Georgios , Link Vivian , Ziegler Andreas 
Published: January 2025

Abstract
Sequencing of increasingly larger cohorts has revealed many rare variants, presenting an opportunity to further unravel the genetic basis of complex traits. Compared with common variants, rare variants are more complex to analyze. Specialized computational tools for these analyses should be both flexible and user-friendly. However, an overview of the available rare variant analysis pipelines and their functionalities is currently lacking. Here, we provide a systematic review of the currently available rare variant analysis pipelines. We searched MEDLINE and Google Scholar until 27 November 2023, and included open-source rare variant pipelines that accepted genotype data from cohort and case–control studies and group variants into testing units. Eligible pipelines were assessed based on functionality and usability criteria. We identified 17 rare variant pipelines that collectively support various trait types, association tests, testing units, and variant weighting schemes. Currently, no single pipeline can handle all data types in a scalable and flexible manner. We recommend different tools to meet diverse analysis needs. STAARpipeline is suitable for newcomers and common applications owing to its built-in definitions for the testing units. REGENIE is highly scalable, actively maintained, regularly updated, and well documented. Ravages is suitable for analyzing multinomial variables, and OrdinalGWAS is tailored for analyzing ordinal variables. Opportunities remain for developing a user-friendly pipeline that provides high degrees of flexibility and scalability. Such a pipeline would enable researchers to exploit the potential of rare variant analyses to uncover the genetic basis of complex traits.
Adult phenotypes of genetic developmental and epileptic encephalopathies
Authors: Vakrinou Angeliki , Pagni Susanna , Mills James D , Clayton Lisa M , Balestrini Simona , Sisodiya Sanjay M 
Published: January 2025

Abstract
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood. This cross-sectional study presents detailed phenotypes of 129 adults (age range 17–71 years), with genetic developmental and epileptic encephalopathies involving causal variants in 42 genes. We describe diverse disease aspects, and we sought genetic insights from the age-related trends of expression of the genes involved. Most developmental and epileptic encephalopathies (69.7%) are epileptic encephalopathies in adulthood, with the presence of epileptic encephalopathy correlating with worse cognitive phenotypes (P = 0.0007). However, phenotypic variability was observed, ranging from those with epileptic encephalopathy to seizure-free individuals with normal EEG or intermediate clinical and EEG phenotypes. This variability was found across individual genes and age-related gene expression trends, suggesting that other influential factors are likely at play. Mobility, feeding and communication impairments were common, with significant dependence on others for activities of daily living. Neurological and psychiatric comorbidities were most prevalent, along with additional systemic comorbidities observed, particularly musculoskeletal, cardiac and gastrointestinal conditions, highlighting the need for comprehensive and multisystemic monitoring. Despite an average diagnostic delay of 25.2 years, aetiology-based therapeutic interventions were feasible for 54.8% of the cohort, underscoring the critical need for genome-wide genetic testing for adults with these phenotypes. Optimizing seizure control remains necessary, but it may not be sufficient to ensure good outcomes, which may differ significantly from childhood metrics, like cognitive function and independence in daily living. Therapies addressing additional aspects beyond seizures are necessary for improving overall outcomes. Understanding the intricate relationship between molecular pathways and the age-related trends of gene expression is crucial for development of appropriate gene-specific therapies and timely intervention. Whilst prospective data are also needed to define these complexities, such studies of necessity take years to acquire: insights from adults can inform care strategies for both paediatric and adult populations now.
Ensitrelvir for the Treatment of Nonhospitalized Adults with COVID-19: Results from the SCORPIO-HR, Phase 3, Randomized, Double-blind, Placebo-Controlled Trial
Authors: Luetkemeyer Anne F , Chew Kara W , Lacey Stuart , Hughes Michael D , Harrison Linda J , Daar Eric S , Eron Joseph , Fletcher Courtney V , Greninger Alexander L , Hessinger Diane , Li Jonathan Z , Mailhot David , Wohl David , Chayakulkeeree Methee , Mendoza Jose Luis Accini , Elistratova Polina , Makinde Oluwaseun , Morgan Gareth , Portsmouth Simon , Uehara Takeki , Smith Davey , Currier Judith S 
Published: January 2025

Abstract

Background
Ensitrelvir, a severe acute respiratory syndrome coronavirus-2 main protease inhibitor, has demonstrated clinical and virologic efficacy in previous studies.

Methods
In this global phase 3 trial, nonhospitalized adults with mild-to-moderate coronavirus disease 2019 (COVID-19) and symptom onset within 5 days were randomized (1:1) to receive once-daily ensitrelvir (375 mg day 1, 125 mg days 2–5) or blinded matching placebo. The primary endpoint was the restricted mean time to sustained (≥2 days) resolution of 15 COVID-19 symptoms, recorded in participant daily diaries, through day 29 in participants starting treatment within 3 days after symptom onset. Virologic efficacy and safety were assessed.

Results
Of 2093 participants, 1888 started treatment within 3 days after symptom onset. Mean time to symptom resolution was 12.5 and 13.1 days with ensitrelvir and placebo, respectively (difference, −0.6 days; 95% confidence interval, −1.38 to 0.19; P = .14). On day 4, ensitrelvir reduced least-squares mean RNA by 0.72 log10 copies/mL more than placebo (95% confidence interval, 0.55–0.90). Among those with positive viral cultures at enrollment, 274/287 (95.5%) ensitrelvir-treated versus 210/280 (75.0%) placebo-treated participants had negative cultures on day 4. RNA rebound was similar (&lt;1.5%) between groups. The proportion of participants with ≥1 adverse event was similar with ensitrelvir (61.5%) and placebo (60.6%). No treatment-related serious adverse events or deaths occurred. Three (0.3%) ensitrelvir-treated and 1 (0.1%) placebo-treated participants had COVID-19–related hospitalizations by day 29.

Conclusions
Despite the evidence of antiviral activity with ensitrelvir, this trial did not demonstrate a significant difference in time to sustained symptom resolution.
Living Beyond IBD: A Patient’s Experience With EIMs and the Case for Multidisciplinary Care
Authors: Castrillon Rocio 
Published: January 2025

Abstract
This editorial explores the complex relationship between inflammatory bowel disease (IBD) and extra-intestinal manifestations (EIMs) and underscores the clinician’s critical need for comprehensive EIM care, as well as the physical and emotional burden imposed on the patient. The editorial concludes with actionable steps for clinicians and a call to advance IBD care with a comprehensive multidisciplinary approach that acknowledges the various challenges faced by patients. Together, we can transform the IBD journey into a partnership built on understanding, support, and shared hope.
Mapping the DeFi crime landscape: an evidence-based picture
Authors: Carpentier-Desjardins Catherine , Paquet-Clouston Masarah , Kitzler Stefan , Haslhofer Bernhard 
Published: January 2025

Abstract
Decentralized finance (DeFi) has been the target of numerous profit-driven crimes, but the prevalence and cumulative impact of these crimes have not yet been assessed. This study provides a comprehensive assessment of profit-driven crimes targeting the DeFi sector. We collected data on 1141 crime events from 2017 to 2022. Of these, 1036 were related to DeFi (the main focus of this study) and 105 to centralized finance (CeFi). The findings show that the entire cryptoasset industry has suffered a minimum loss of US$30B, with two-thirds related to CeFi and one-third to DeFi. Focusing on DeFi, a taxonomy was developed to clarify the similarities and differences among these crimes. All events were mapped onto the DeFi stack to assess the impacted technical layers, and the financial damages were quantified to gauge their scale. The results highlight that during an attack, a DeFi actor (an entity developing a DeFi technology) can serve as a direct target (due to technical vulnerabilities or exploitation of human risks), as a perpetrator (through malicious uses of contracts or market manipulations), or as an intermediary (by being imitated through, for example, phishing scams). The findings also show that DeFi actors are the first victims of crimes targeting the DeFi industry: 52% of events targeted them, primarily due to technical vulnerabilities at the protocol layer, and these events accounted for 83% of all financial damages. Alternatively, in 41% of events, DeFi actors were themselves malicious perpetrators, predominantly misusing contracts at the cryptoasset layer (e.g. rug pull scams). However, these events accounted for only 17% of all financial damages. The study offers a preliminary assessment of the size and scope of crime events within the DeFi sector and highlights the vulnerable position of DeFi actors in the ecosystem.
Methods for assessing peri-implant marginal bone levels on digital periapical radiographs: a meta-research
Authors: dos Reis Isabella Neme Ribeiro , Vilela Nathalia , Naenni Nadja , Jung Ronald Ernest , Schwarz Frank , Romito Giuseppe Alexandre , Spin-Neto Rubens , Pannuti Claudio Mendes 
Published: January 2025

Abstract

Objectives
This meta-research assessed methodologies used for evaluating peri-implant marginal bone levels on digital periapical radiographs in randomized clinical trials published between 2019 and 2023.

Methods
Articles were searched in four databases. Data on methods for assessing peri-implant marginal bone levels were extracted. Risk of bias assessment was performed.

Results
During full-text reading, 108 out of 162 articles were excluded. Methodological issues accounted for these exclusions, including the absence of radiograph-type information, the lack of radiographic positioners, the missing anatomical references, and the use of panoramic radiographs or tomography. Fifty-four articles were included, most from Europe (70%) and university-based (74%). Radiographic positioners were specified in 54% of articles. Examiner calibration was unreported in 54%, with 69% lacking details. In 59%, no statistical measure assessed examiner agreement. Blinding was unreported or unused in 50%. Marginal bone level changes were the primary outcome of 61%. Most articles (59.3%) raised “some concerns” regarding bias, while 37% showed a high risk of bias, and only two articles (3.7%) demonstrated a low risk of bias.

Conclusions
Several limitations and areas for improvement were identified. Future studies should prioritize protocol registration, standardize radiographic acquisitions, specify examiner details, implement calibration and statistical measures for agreement, introduce blinding protocols, and maintain geometric calibration standards.
Gasdermin B modulates intestinal epithelial homeostasis via regulating hyperactive unfolded protein response in Crohn’s disease
Authors: Gong Wenbin , Liu Peizhao , Liu Juanhan , Li Yangguang , Jiang Haiyang , Li Weizhen , Kang Jiaqi , Jiao Fan , Wu Xiuwen , Zhao Yun , Ren Jianan 
Published: January 2025

Abstract

Background
Impaired intestinal epithelial barrier has been considered to be associated with an increasing variety of gastrointestinal diseases, especially inflammatory bowel disease (IBD) encompassing Crohn’s disease (CD) and ulcerative colitis (UC). We aimed to investigate the role of Gasdermin B (GSDMB) in modulating intestinal epithelial barrier integrity and proposed a promising therapeutic strategy.

Methods
Gasdermin B expression was evaluated in adult CD samples by molecular biology means and single-cell transcriptomes. We generated GSDMB (Rosa26-lsl/lsl-GSDMB;Villin-Cre) and one of its functional missense variant rs2305480 (Rosa26-lsl/lsl-GSDMB-MU;Villin-Cre) intestinal epithelial-specific knock in mice to observe the functions of GSDMB in intestinal epithelial barrier. RNA-seq analysis as well as human and murine intestine-derived organoids were used to determine the pathogenic mechanism of GSDMB.

Results
The expression of GSDMB was increased during active intestinal inflammation and principally localized in intestinal epithelial cells (IECs). Rosa26-lsl/lsl-GSDMB;Villin-Cre mice developed enterocolitis and exhibited aberrant intestinal barrier integrity. Mechanistically, epithelial GSDMB modulated hyperactive unfolded protein response of IECs by up-regulating BHLHA15 to mediate intestinal barrier injury. Rosa26-lsl/lsl-GSDMB-MU;Villin-Cre mice with the mutant rs2305480 of GSDMB aggravated such inflammatory effects.

Conclusion
We have uncovered an important and previously unrecognized role of GSDMB in intestinal homeostasis, which represents a potential therapeutic target for intestinal inflammation.
Revisiting ascending aortic resection in the elective valve-sparing root replacement: assessing the benefits and necessity of hemiarch replacement at three centres
Authors: Yildiz Murat , Schoenhoff Florian , Werdecker Victoria , Nucera Maria , Mosbahi Selim , Zhao Yu , Goel Nicholas , Berezowski Mikolaj , Lawrence Kendall , Kapoor Sankrit , Kreibich Maximillian , Berger Tim , Kletzer Joseph , Bavaria Joseph , Szeto Wilson Y , Siepe Matthias , Czerny Martin , Desai Nimesh D 
Published: January 2025

Abstract

OBJECTIVE
The aim of this study was to determine the indication and optimal timing for performing a hemiarch procedure in patients undergoing valve-sparing root replacement (VSRR).

METHODS
We conducted a retrospective study on 986 patients undergoing VSRR at three tertiary care centres. Inclusion criteria were all patients undergoing elective VSRR. Exclusion criteria were age &lt;18 years, Stanford type A dissection, dissection in the arch, total aortic arch replacement or previous aortic arch replacement. We performed propensity score matching in a 1:1 ratio. The primary end-point is a composite outcome that includes mortality, aortic arch reintervention, new aortic dissection during follow-up and cerebrovascular incidents within the first 30 days.

RESULTS
A total of 401 patients (41%) had a hemiarch replacement, while 585 (59%) did not. Root phenotype was present in 565 (57%). The mean follow-up time was 4.7 years (SD ± 4.6). In the matched population, there was no significant difference in the 10-year freedom from the composite outcome between the non-hemiarch and hemiarch groups (87.3% vs 85.0%, P &gt; 0.999). Similarly, no difference was found for aortic reinterventions (P = 0.13) or survival (P = 0.5). This was also true for patients with heritable thoracic aortic disease. However, in patients with a bicuspid aortic valve, the intervention rate was significantly higher in the hemiarch group (10.8% vs 0%, P = 0.016). There was no significant difference in the 30-day incidence of cerebrovascular accidents between the groups (5% vs 2.7% in the hemiarch group, P = 0.117). Only the distal ascending diameter showed a tendency with better outcome over 45 mm for the hemiarch procedure; otherwise, we found no reliable cut-off values based on ascending length, diameter-to-height index or ascending length-to-height index.

CONCLUSIONS
Our findings conclusively demonstrate that concomitant hemiarch replacement does not increase the perioperative risk in young patients undergoing VSRR. However, concomitant replacement does not seem to protect from aortic reinterventions during medium-term follow-up.