bluuebunny/crossref_metadata_2025_split huggingface dataset:
P20.22.B STEREOTACTIC RADIOSURGERY FOR VESTIBULAR SCHWANNOMA - TUMOUR CONTROL AND TOXICITY OUTCOMES FROM THE EAST OF ENGLAND
Authors: Cullen K , Burton K , Jefferies S , Duke S 
Published: October 2024

Abstract

BACKGROUND
Stereotactic radiosurgery (SRS) is a standard of care for small to intermediate size vestibular schwannoma (VS). Having implemented this technique in our centre in 2017, we examined our tumour control and toxicity rates to audit against published data.

MATERIAL AND METHODS
We performed a retrospective review of all patients treated with linear accelerator based SRS (12Gy/1# delivered to 80% isodose) for VS in our centre. Patients were excluded from analysis if they had NF2 or had yet to receive a follow-up. Toxicity outcomes focussed on balance, hearing, and facial/trigeminal nerve symptoms; data was collected on a template within clinic letters. For tumour control, clinical progression requiring surgery was the primary outcome, with an exploratory endpoint of tumour growth (mm). Maximum tumour diameter was collected from radiology reports prior to starting treatment and years 1,2,3 & 5 post SRS. Radiotherapy dose metrics were obtained from radiotherapy plan data. Statistical tests used an unpaired T-test.

RESULTS
140 adult patients with VS were treated with SRS between 2017 and 2023. The mean age was 64. Mean cochlea, brainstem Dmax and trigeminal Dmax doses were 7.7Gy, 9.09Gy and 8.1Gy respectively. Median follow-up was 46 months (range 6 weeks-76 months). One patient was referred for surgery 31 months after treatment due to continued tumour growth. In the 1st year, the median change in tumour size = 0 mm (range -10 to 4), in the 2nd year it was -1 mm (range -1 to 5), in 3rd year 0 mm (range -10 to 3), and in the 4th & 5th years -1 mm (-4 to 0). The median rate of tumour size change was -0.67mm/year (range -6 to 3). 9.2% of patients experienced worsening facial/trigeminal nerve symptoms post-SRS with 90% improving within 2 years, 17% experienced decreased balance with 58% improving within 2 years and 25% experienced a subjective decrease in hearing with none improving within 2 years. 73% of patients with useful hearing retained it at most recent follow-up. There was no significant relationship between growth rate and age, tumour size, or tumour coverage. There was a relationship between higher cochlea dose and new balance problems (p=0.044). There was no significant relationship between symptom development and tumour growth, and many who had growth post-SRS had no new symptoms.

CONCLUSION
High rates of tumour control at early time points were seen as expected - only one patient (0.7%) needed surgery. While typically patients’ tumours shrunk or were stable, the inability to detect growth clinically, through symptom development, points towards the need for ongoing imaging follow-up. Although facial and trigeminal symptoms were uncommon and generally self-limiting, balance and hearing problems were more prevalent and persistent. This shows the need for following up these patients within a multi-disciplinary setting, reinforcing the case for our multi-disciplinary clinic.
P21.02.A GERMAN TRANSLATION AND CROSS-CULTURAL ADAPTATION OF THE VESTIBULAR SCHWANNOMA QUALITY OF LIFE INDEX (VSQOL)
Authors: Rutenkröger M , Wandke S , Gempt J , Dührsen L , Scheer M , Strauss C , Führes H 
Published: October 2024

Abstract

BACKGROUND
Vestibular schwannomas (VSs) are benign tumors of the vestibulocochlear nerve that often cause significant neurological and functional impairment. Patient-reported outcomes, including quality of life (QoL), are essential for understanding the overall impact of VS and its treatment. This study aimed to translate and culturally adapt the Vestibular Schwannoma Quality of Life (VSQOL) Index into German to expand its relevance to German-speaking populations.

MATERIAL AND METHODS
We used a qualitative approach including translation and cognitive interviews with 10 patients who underwent VS surgery. The translation process followed the TRAPD protocol to ensure linguistic and conceptual accuracy. Cognitive interviews assessed the comprehensibility and relevance of the translated questionnaire.

RESULTS
The translation showed remarkable consistency between translators, with minor discrepancies resolved by consensus. Cognitive interviews provided valuable insights that led to refinements in item wording and order. Participants emphasized the importance of an additional item on physician referrals, reflecting differences in health care systems between the United States and Germany.

CONCLUSION
The German VSQOL provides a comprehensive tool for assessing QoL in patients with VS that integrates patient-centered dimensions. A Validation study is underway to establish its reliability and validity.
P22.12.B PREDICTION OF QOL IN PATIENTS WITH IDH-MUTATED GLIOMAS, BEFORE AND ONE YEAR AFTER TREATMENT
Authors: Ryden I , Malmqvist S , Hellström P , Gomez Vecchio T , Smits A , Store Jakola A 
Published: October 2024

Abstract

BACKGROUND
IDH-mutated gliomas are primary brain tumours that typically affect relatively young individuals. As survival rates have increased due to changes in treatment strategies, maintaining health-related quality of life (HRQoL) has become more significant. This study will investigate factors influencing HRQoL in patients with IDH-mutated gliomas.

MATERIAL AND METHODS
Patients undergoing surgery (biopsy/resection) for a presumed IDH-mutated glioma between January 2017 to August 2024 were asked to do a neuropsychological assessment and fill out HRQoL questionnaires. As to this date, inclusion is not finished, and analyses based on molecular subgroups are not yet available. Results presented at the conference will be update. This abstract presents preliminary results for patients included so far (n=96). Two overlapping groups were created based on data availability: a preoperative (preop) group (n=85) and a 12-month postoperative (postop) group (n=71). HRQoL was assessed using the EORTC QLQ-C30 global health status. Tumour-specific, treatment-specific, cognitive, and psychological factors were identified as potential predictors, and hierarchical regression analysis was used for each group. Further analyses were conducted to compare HRQoL with the general population and to explore the most significant predictors.

RESULTS
In the preop group, anxiety levels (Hospital Anxiety and Depression Scale) were significantly associated with HRQoL, explaining 34 % of the variance. In the postop group, radiation therapy was initially associated with lower HRQoL, explaining 7 % of the variance, but this association was not significant in subsequent analyses. Instead, cognitive impairment (no/mild vs. moderate/severe) and anxiety levels were significant predictors of lower HRQoL, accounting for 61% of the variance, with anxiety being the stronger predictor. Compared to the general population (M = 76.3, SD = 21.8), HRQoL was significantly lower in both preop (M = 56.81, SD = 23.47, t = -7.38, p&lt;.001, d = 0.86) and postop groups (M = 64.81, SD = 24.68, t = -3.98, p&lt;.001, d = 0.50). A significant proportion of patients scored above the lower cut-off for anxiety: 53 % in the preop group (27 % above the pathological cut-off) and 30 % in the postop group (18 % above the pathological cut-off).

CONCLUSION
Patients with LGG reported lower HRQoL compared to the general population. Anxiety and cognitive impairment are key factors affecting HRQoL, with anxiety being the strongest predictor. These findings underscore the need to screen for psychological symptoms and evaluate cognitive functioning. In addition, they suggest key areas for rehabilitation to help improve HRQoL in patients with IDH-mutated gliomas.
P27.15.B OVERTREAMENT IN PATIENTS WITH AN UNRESECTABLE HIGH-GRADE GLIOMA IN DAILY CLINICAL PRACTICE
Authors: Claassen M 
Published: October 2024

Abstract

BACKGROUND
In unresectable high-grade glioma (HGG) patients, guidelines recommend a biopsy unless the prognosis is likely to be very unfavourable and best supportive care (BSC) should be advised. Estimating the prognosis is difficult in daily practice and poses the risk of overtreatment.

OBJECTIVE
In this study we assess the overtreatment of unresectable HGG patients.

MATERIAL AND METHODS
A retrospective analysis of patients with an unresectable HGG at the Amsterdam UMC, the Netherlands, between 2016 and 2022 was performed. Overtreatment was defined as not starting adjuvant treatment or survival &lt; 3 months. Using patient (age, sex, Karnofsky Performance scale (KPS), American Society of Anesthesiologists (ASA) Physical Status Classification System) and tumor (multifocality and laterality) characteristics, a predictive model was created using logistic regression with backward elimination (P-removal = 0.05).

RESULTS
A total of 166 patients had an unresectable HGG of which 132 (80%) underwent a biopsy, and 33 (20%) received BSC. Overtreatment occurred in 57 (43%) biopsied patients, with 47 (82%) of these patients not starting adjuvant treatment and 10 (18%) patients surpassing within 3 months after the biopsy. Age ≥ 64.2 years (OR 2.739, p = 0.006) and a pre-biopsy KPS &lt; 70 (OR 3.781, p = 0.006) were significant predictors of overtreatment. Biopsied patients had a longer survival than patients receiving BSC (respectively OS 8,6 and 3,8 months, p = &lt; 0.001) However, survival of overtreated biopsy patients (OS 2,6 months) was shorter than in patients receiving BSC (p = 0.003).

CONCLUSION
Current decision-making in daily practice results in overtreatment in 43% of patients who are advised to undergo a biopsy. These patients have a shorter survival than those who receive BSC. Higher age and lower pre-biopsy KPS could help to identify these patients. Future research should aim to develop more robust markers to aid decision-making and prevent overtreatment of these vulnerable patients.
Data-driven discovery of Tsallis-like distribution using symbolic regression in high-energy physics
Authors: Makke Nour , Chawla Sanjay 
Published: October 2024

Abstract
The application of atificial intelligence (AI) in fundamental physics has faced limitations due to its inherently uninterpretable nature, which is less conducive to solving physical problems where natural phenomena are expressed in human-understandable language, i.e. mathematical equations. Fortunately, there exists a form of interpretable AI that aligns seamlessly with this requirement, namely, symbolic regression (SR), which learns mathematical equations directly from data. We introduce a groundbreaking application of SR on actual experimental data with an unknown underlying model, representing a significant departure from previous applications, which are primarily limited to simulated data. This application aims to evaluate the reliability of SR as a bona fide scientific discovery tool. SR is applied on transverse-momentum-dependent distributions of charged hadrons measured in high-energy-physics experiments. The outcome underscores the capability of SR to derive an analytical expression closely resembling the Tsallis distribution. The latter is a well-established and widely employed functional form for fitting measured distributions across a broad spectrum of hadron transverse momentum. This achievement is among the first instances where SR demonstrates its potential as a scientific discovery tool. It holds promise for advancing and refining SR methods, paving the way for future applications on experimental data.
A phylogenetics and variant calling pipeline to support SARS-CoV-2 genomic epidemiology in the UK
Authors: Colquhoun Rachel , O’Toole Áine , Hill Verity , McCrone J T , Yu Xiaoyu , Nicholls Samuel M , Poplawski Radoslaw , Whalley Thomas , Groves Natalie , Ellaby Nicholas , Loman Nick , Connor Tom , Rambaut Andrew 
Published: October 2024

Abstract
In response to the escalating SARS-CoV-2 pandemic, in March 2020 the COVID-19 Genomics UK (COG-UK) consortium was established to enable national-scale genomic surveillance in the UK. By the end of 2020, 49% of all SARS-CoV-2 genome sequences globally had been generated as part of the COG-UK programme, and to date, this system has generated &gt;3 million SARS-CoV-2 genomes. Rapidly and reliably analysing this unprecedented number of genomes was an enormous challenge. To fulfil this need and to inform public health decision-making, we developed a centralized pipeline that performs quality control, alignment, and variant calling and provides the global phylogenetic context of sequences. We present this pipeline and describe how we tailored it as the pandemic progressed to scale with the increasing amounts of data and to provide the most relevant analyses on a daily basis.
Student-Led Mobility Interventions for Hospitalized Adults
Authors: Crick James P. , Oberyszyn Alex , Alain Gabriel N. , Thomas Erin M. , Quatman Carmen E. , Quatman-Yates Catherine C. 
Published: October 2024

Background:
Inactivity in hospitalized patients often leads to functional decline. We created an undergraduate course to promote mobilization, provide hands-on learning, and address staff shortages.

Purpose:
To assess the feasibility and acceptability of undergraduate students providing mobility-focused interventions for hospitalized adults.

Methods:
This mixed-methods study was conducted at a level 1 trauma academic center. We analyzed program feasibility and acceptability using quantitative data and thematic analysis of interviews and focus groups.

Results:
In total 47 individuals (n = 14 students, n = 9 patients, and n = 24 clinicians) were included. Students averaged 4.1 mobility sessions per 4-hour shift. All stakeholders agreed the program is acceptable, and 98.6% affirmed the program is feasible. The themes identified included positive impacts on patient care, enhanced student professional development, and practical implementation challenges.

Conclusions:
Student-led mobility interventions can be an acceptable strategy to mitigate immobility harm in hospitalized patients. The integration of students enhances patient care and provides valuable educational experiences.
Uncovering the Motor Dynamics of Obsessive-Compulsive Rituals Through Cluster Analysis
Authors: Gambolò Luca , Ottoni Rebecca , Di Donna Anna , Marchesi Carlo , Tonna Matteo 
Published: October 2024

Abstract
Rituals represent a prominent human behavior in different contexts such as daily routines, life cycle stages, and psychopathology, for example, obsessive compulsive disorder (OCD) where they are referred to as compulsions. OCD compulsions differ from habitual behaviors and stereotypies regarding their formal features: acts repetition, the addition of nonfunctional acts, and attentional focus on basic motor units. This study aims to categorize OCD compulsions based on the motor patterns of acts repetition and inclusion of nonfunctional acts. We analyzed 28 video-recorded OCD compulsions; we adopted a cluster analytic model to identify distinct patterns within the data and determine cluster characteristics. Our findings revealed a moderate negative covariance between nonfunctionality and repetitiveness, indicating that as nonfunctionality increased, repetitiveness decreased. Three distinct clusters in OCD rituals were identified according to the motor pattern: “idiosyncratic rituals,” characterized by strong incorporation of nonfunctional acts; “iterative rituals” showing high repetitiveness; and “routines,” with minimal repetition and limited inclusion of nonfunctional acts. These motor patterns highlight evolutionarily conserved behavioral strategies aimed at coping with conditions of environmental unpredictability. The findings might allow fine-grained discrimination of ritual compulsions and help target personalized interventions.
Teamwork in Rural Emergency Health Care
Authors: Morian Hanna , Hultin Magnus , Lindkvist Marie , Creutzfeldt Johan , Dubois Hanna , Jonsson Karin , Amorøe Torben N. , Härgestam Maria 
Published: October 2024

Introduction
Despite the increasing use of distributed healthcare teams, performance evaluation is largely lacking. This study examined rural emergency health care in Sweden to determine the effect of teams being either co-located or distributed with remote physicians accessible via telemedicine.

Method
In this crossover study, 17 three-person teams were video recorded during co-located and distributed simulated scenarios. Team performance in the video recordings was evaluated using the TEAM instrument.

Results
Co-located scenarios had significantly higher Total ratings for the instrument (items 1–11), in the teamwork domain (items 3–9), and in overall performance (item 12) compared with distributed scenarios (P < 0.005). Item-level analysis revealed that co-located teams were better at completing tasks on time (item 4) and showed greater adaptability to changing situations (item 7).

Conclusions
The higher rating of the performance of co-located teams underscores the challenges facing distributed teams. Given that distributed healthcare teams are a reality in rural areas in northern Sweden, education and training must be adapted to address these challenges. This adaptation is crucial for ensuring high-quality patient care by distributed teams.
Basic helix-loop-helix transcription factorBHLHE22monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Authors: Le Carolyn , Argilli Emanuela , George Elizabeth , Kalaycı Tuğba , Uyguner Zehra Oya , Karaman Birsen , Demirören Tanju , DiTroia Stephanie , Heron Delphine , Sabatier Isabelle , Rodan Lance H. , Girisha Katta Mohan , Radhakrishnan Periyasamy , Saunders Carol , Sullivan Bonnie , Fleming Emily , Alvi Javeria Raza , Sultan Tipu , Houlden Henry , Efthymiou Stephanie , Guillen Sacoto Maria J. , Goodman Melanie , Pierron Lucie , Sainte-Agathe Jean-Madeleine De , Durr Alexandra , Sherr Elliott H. 
Published: October 2024

ABSTRACTBHLHE22encodes a Class II basic helix-loop-helix transcription factor (bHLH). It is expressed exclusively in the retina and central nervous system (CNS), and functions as an important regulator of retinogenesis and neuronal differentiation. Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum. Here we report eleven individuals from nine unrelated families withBHLHE22variants, with a neurodevelopmental disorder presenting with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals have partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised of epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms. Four individuals carryde novomissense variants within the highly conserved helix-loop-helix domain while seven individuals from five unrelated families carry a recurrent homozygous frameshift variant, p.(Gly74Alafs*18). Our findings implicateBHLHE22variants in causing a previously unidentified autosomal dominant and recessive neurodevelopmental disorder associated with ACC, severe motor, language, and cognitive delays, abnormal tone, and involuntary movements. To our knowledge, this is the first report of Class II bHLH variants in humans shown to significantly disrupt brain development, cognition, and movement.
Development and qualification of an LC-MS/MS method for the quantification of MUC5AC and MUC5B mucins in spontaneous human sputum
Authors: Sun Weiwen , Mou Si , Huntington Catherine , Killick Helen , Scott Ian Christopher , Kelly Aoife , Gavala Monica , Larsson Jessica Holmen , Vakkalanka Deepika , Alexis Neil E , Wiley Walter , Wheeler Aaron , Shah Kumar , Yuan Moucun , Mylott William R. , Contrepois Kévin , Rosenbaum Anton I. 
Published: October 2024

AbstractAimAirway mucins are promising biomarkers in respiratory diseases. In this study, we aimed to identify a suitable sputum collection and processing method, as well as qualify a bioanalytical method for soluble MUC5AC and MUC5B quantification in clinical samples.MethodMucins were quantified in induced and spontaneous sputum collected from the same COPD patients and following various sample processing procedures. Our LC-MS/MS method used truncated recombinant mucins as surrogate analytes and a surrogate matrix approach.ResultsFrozen spontaneous sputum was found to be a suitable and convenient matrix for mucin quantification and fit-for-purpose method qualification was performed.ConclusionOur methodology provides accurate and reliable MUC5AC and MUC5B quantification and facilitates multi-site clinical studies in COPD and potentially other respiratory diseases.
Religion, Politics, and Policy Related to Age-Adjusted Cancer, Heart Disease, Infant Mortality and COVID-19 Death Rates, U.S. States 2018-2021
Authors: Robertson Leon S. 
Published: October 2024

AbstractThe role of religion and politics in the responses to the coronavirus pandemic raises the question of their influence on the risk of other diseases. This study focuses on age-adjusted death rates of cancer, heart disease, and infant mortality per 1000 live births before the pandemic (2018-2019) and COVID-19 in 2020-2021. Seven hypothesized predictors of health effects were analyzed by examining their correlation to age-adjusted death rates among U.S. states – percent who pray once or more daily, Republican influence on state health policies as indicated by the percentage vote for Trump in 2016, median family income divided by a cost-of-living index, the Gini income inequality index, urban concentration of the population, physicians per capita, and public health expenditures per capita. Since many people practice religion independent of formal ceremonies, the percentage of people who claim to pray daily in each state was used as an indicator of potential religious influence. All of the death rates were higher in states where more people claim to pray daily and where Trump received a larger percentage of the vote. The rates were consistently lower in states where public health expenditures were higher. Only COVID-19 was correlated to physicians per capita, lower where there were more physicians. Corrected statistically for the other factors, income per cost of living explains no variance. Heart disease and COVID-19 death rates were higher in areas with more income inequality.
Outbreak of sexually transmittedS. sonnei blaCTX-M-15in England: an epidemiological and genomic investigation
Authors: Charles Hannah , Greig David R. , Swift Craig , Olonade Israel , Simms Ian , Sinka Katy , Baker Kate S , Godbole Gauri , Jenkins Claire 
Published: October 2024

AbstractThe diarrhoeal disease, shigellosis, can be sustained as a sexually transmissible enteric illness among gay, bisexual, and other men who have sex with men (GBMSM). Multiple extensively drug-resistant strains ofShigellahave been detected through genomic surveillance, which have typically been associated with plasmids carrying the gene variantblaCTX-M-27. We report an increase in likely sexually transmissible cases ofShigellacarryingblaCTX-M-15,which was previously associated with travel. In 2023, there were 117 cases belonging to the single 10-SNP single linkage cluster, t10.1814. While this cluster had been present in England since August 2019, genetic analyses revealed thatblaCTX-M-15entered the lineage on a novel resistance plasmid coincident with the first case of the outbreak. This highlights the shifting antimicrobial resistance landscape of sexually transmissibleShigellaand the parallel emergence of resistance determinants against third generation cephalosporins in sexual transmission networks suggests high levels of antimicrobial selection pressure among GBMSM.