bluuebunny/crossref_metadata_2025_split huggingface dataset:
Growth charts for pontocerebellar hypoplasia type 2A
Authors: Kuhn Alice , Hackenberg Maren , Klauser Anna-Lena , Herrmann Antonia , Matilainen Julia , Mayer Simone , Frölich Saskia , Krägeloh-Mann Ingeborg , Groeschel Samuel , Janzarik Wibke G. 
Published: June 2024

AbstractIntroductionPontocerebellar hypoplasia type 2A (PCH2A) is a rare, autosomal recessive disease, caused by a homozygous pathogenic variant in the geneTSEN54(c.919G>A, p.A307S). Apart from the characteristic pontocerebellar hypoplasia in MRI, PCH2A is clinically characterized by a dyskinetic movement disorder, severe neurodevelopment delay, progressive microcephaly, and, less well recognized, failure to thrive. Additional symptoms such as seizures, gastrointestinal or respiratory problems are common. The aim of this study was to document growth data of PCH2A patients, calculate growth charts for height, weight, body mass index (BMI) and head circumference (hc), and compare these to German reference charts.Patients and methodsIn total, data of 65 patients with genetically confirmed PCH2A were included in the study. Growth data were collected retrospectively from medical reports and a parent questionnaire. Disease-specific growth charts were prepared using gamlss package in R. Sex-disaggregated growth charts for PCH2A were compared to German reference data from the KiGGs study.ResultsHeight and weight of patients with PCH2A were within the normal range at birth. Mean weight was significantly lower from the age of 3 months onwards, and mean height at the age of 6 months in patients with PCH2A, both, females and males. Mean BMI was statistically lower in patients at the age 4 months. Compared to reference values, mean head circumference of patients with PCH2A was significantly below average at birth, and all patients showed severe and progressive microcephaly in the further course.ConclusionIn line with previous reports, patients with PCH2A typically exhibit progressive microcephaly, and frequently fail to thrive during infancy. Disease-specific growth charts of pediatric patients with PCH2A are provided as a helpful tool to monitor height, weight, BMI and head circumference of affected children.
Age- and sex- differences in efficacy of treatments for type 2 diabetes: Network meta-analysis of aggregate and individual level data
Authors: Hanlon Peter , Butterly Elaine , Wei Lili , Wightman Heather , Almazam Saleh Ali M , Alsallumi Khalid , Crowther Jamie , McChrystal Ryan , Rennison Heidi , Hughes Katherine , Lewsey Jim , Lindsay Robert , McGurnaghan Stuart , Petrie John , Tomlinson Laurie A , Wild Sarah , Adler Amanda , Sattar Naveed , Phillippo David M , Dias Sofia , Welton Nicky J , McAllister David A 
Published: June 2024

AbstractImportanceSodium glucose cotransporter 2 inhibitors (SGLT2i), glucagon-like peptide-1 receptor analogues (GLP1ra) and dipeptidyl peptidase-4 inhibitors (DPP4i) improve hyperglycaemia and, in the case of SGLT2i and GLP1ra, reduce the risk of major adverse cardiovascular events (MACE) in type 2 diabetes. It is not clear whether efficacy varies by age or sex.ObjectiveAssess whether age or sex are associated with differences in efficacy of SGL2i, GLP1ra and DPP4i.Data sourcesMedline, Embase and clinical trial registries.Study selectionTwo independent reviewers screened for randomised controlled trials of SGLT2i/GLP1ra/DPP4i, compared to placebo/active comparator, in adults with type 2 diabetes.Data extraction and synthesisWe sought individual participant data (IPD) all eligible studies. Where IPD were available, we modelled age- and sex-treatment interactions for each trial. Otherwise, we assessed age- sex distributions along with results from aggregate trial data. IPD and aggregate findings were combined in a Bayesian network meta-analysis.Main outcome measuresHbA1c and MACE.ResultsWe identified 616 eligible trials (604 reporting HbA1c, 23 reporting MACE) and obtained IPD for 75 trials (6 reporting MACE). Mean age was 59.0 (10.7) years and 64.0 (8.6) in HbA1c and MACE trials, respectively. Proportions of female were 43.1% and 44.0% in HbA1c and MACE trials, respectively. SGLT2i reduced HbA1c by 0.5-1.0% overall compared to placebo. This reduction versus placebo was attenuated in older participants (change in HbA1c 0.25 percentage-points less for 75-year-olds compared to 45-year-olds). SGLT2i showed greater relative efficacy in MACE risk reduction among older than younger people. This finding was sensitive to the exclusion of one of the IPD MACE trials, however, in all sensitivity analyses, SGLT2i were either as efficacious or more efficacious in older participants. There was no consistently significant difference in efficacy by age for GLP1ra or DPP4i for HbA1c or MACE, nor were there consistent significant sex differences for any class.ConclusionNewer glucose-lowering drugs are efficacious across age and sex groups. SGLT2i are more cardioprotective in older than younger people despite smaller HbA1c reductions. Age alone should not be a barrier to treatments with proven cardiovascular benefit providing they are well tolerated align with patient priorities.
Association between Insurance Type and Extended Length of Stay in Urban & Rural Vermont Hospitals
Authors: Payne Patrick C. , Klonsky Mia , Moreau Katrina , Oviedo Alyssa , Nowak Sarah 
Published: June 2024

PurposeTo evaluate the link between insurance status and patient length of stay (LOS) for inpatient admissions in rural and urban hospitals in Vermont.MethodsWe conducted a cross-sectional study utilizing 2016 to 2020 data from the Vermont Uniform Hospital at Data Discharge System (VUHDDS). Vermont residents 18-64 years of age admitted for heart and circulatory illnesses who spent least one day as inpatient at one of Vermont’s 14 hospitals were included. Frequency statistics were run to determine distribution of sample characteristics and a two-side Z-test was conducted to compare differences between normal and extended lengths of stay. Three multivariate logistic regression models were utilized to control for confounding factors and identify differences in lengths of stay and mortality.FindingsPrivate insurance was more common among patients with a normal LOS (46%) and public insurance more common among patients with extended lengths of stay (54%). Rural Medicare patients have 0.77 (CI: 0.66-0.90) times lower odds of extended LOS, which is distinct from the 95% confidence interval for urban patients (CI: 0.94-1.46). Urban Medicaid insured patients had 1.413 (CI: 1.15-1.74) times greater odds of an extended LOS, which is outside of the 95% confidence interval for rural patients (CI: 0.80-1.09).ConclusionsIn conclusion, the rurality of a patient’s residence appears to impact health outcomes for cardiac related discharges for individuals in Vermont related to their insurer. Further studies with more demographic data are needed to better understand the implications of these findings.
Rare variant effect estimation and polygenic risk prediction
Authors: Nam Kisung , Kho Minjung , Zhou Wei , Mukherjee Bhramar , Lee Seunggeun 
Published: June 2024

AbstractDue to their low frequency, estimating the effect of rare variants is challenging. Here, we propose RareEffect, a method that first estimates gene or region-based heritability and then each variant effect size using an empirical Bayesian approach. Our method uses a variance component model, popular in rare variant tests, and is designed to provide two levels of effect sizes, gene/region-level and variant-level, which can provide better interpretation. To adjust for the case-control imbalance in phenotypes, our approach uses a fast implementation of the Firth bias correction. We demonstrate the accuracy and computational efficiency of our method through extensive simulations and the analysis of UK Biobank whole exome sequencing data for five continuous traits and five binary disease phenotypes. Additionally, we show that the effect sizes obtained from our model can be leveraged to improve the performance of polygenic scores.
Customizing GPT-4 for clinical information retrieval from standard operating procedures
Authors: Muti Hannah Sophie , Lavinia Löffler Chiara Maria , Leßmann Marie-Elisabeth , Stüker Esther Helene , Kirchberg Johanna , von Bonin Malte , Kolditz Martin , Ferber Dyke , Egger-Heidrich Katharina , Merboth Felix , Stange Daniel E. , Distler Marius , Kather Jakob Nikolas 
Published: June 2024

AbstractBackgroundThe increasing complexity of medical knowledge necessitates efficient and reliable information access systems in clinical settings. For quality purposes, most hospitals use standard operating procedures (SOPs) for information management and implementation of local treatment standards. However, in clinical routine, this information is not always easily accessible. Customized Large Language Models (LLMs) may offer a tailored solution, but need thorough evaluation prior to clinical implementation.ObjectiveTo customize an LLM to retrieve information from hospital-specific SOPs, to evaluate its accuracy for clinical use and to compare different prompting strategies and large language models.MethodsWe customized GPT-4 with a predefined system prompt and 10 SOPs from four departments at the University Hospital Dresden. The model’s performance was evaluated through 30 predefined clinical questions of varying degree of detail, which were assessed by five observers with different levels of medical expertise through simple and interactive question-and-answering (Q&A). We assessed answer completeness, correctness and sufficiency for clinical use and the impact of prompt design on model performance. Finally, we compared the performance of GPT-4 with Claude-3-opus.ResultsInteractive Q&A yielded the highest rate of completeness (80%), correctness (83%) and sufficiency (60%). Acceptance of the LLM’s answer was higher among early-career medical staff. Degree of detail of the question prompt influenced answer accuracy, with intermediate-detail prompts achieving the highest sufficiency rates. Comparing LLMs, Claude-3-opus outperformed GPT-4 in providing sufficient answers (70.0% vs. 36.7%) and required fewer iterations for satisfactory responses. Both models adhered to the system prompt more effectively in the self-coded pipeline than in the browser application. All observers showed discrepancies between correctness and accuracy of the answers, which rooted in the representation of information in the SOPs.ConclusionInteractively querying customized LLMs can enhance clinical information retrieval, though expert oversight remains essential to ensure a safe application of this technology. After broader evaluation and with basic knowledge in prompt engineering, customized LLMs can be an efficient, clinically applicable tool.
Application and content of minimum data sets for care homes: A mapping review
Authors: Hanratty Barbara , Akdur Gizdem , Burton Jennifer Kirsty , Davey Vanessa , Goodman Claire , Gordon Adam Lee , Killett Anne , Liddle Jenny , Rand Stacey , Spilsbury Karen , Towers Ann-Marie 
Published: June 2024

AbstractBackgroundCare home residents have complex needs, and minimum data sets (MDSs) provide a unique source of information on their health and wellbeing. Although MDSs were first developed to monitor quality and costs of care, they can make an important contribution to research.AimTo describe the research applications of data from care home MDSs, and identify key outcome variables and measures used.DesignMapping review of published empirical studies using data generated from minimum data sets in long term care facilities for older adults.MethodsWe performed a comprehensive search of electronic databases (Medline OVID, CINAHL, Embase and ASSIA), using bespoke search strategies to identify English language publications 2011 - 2024. Articles were screened by two independent reviewers. They were grouped by study topic and data (on publication date, country, MDS, outcome variables and specific items or measures) were charted without quality assessment. The key features of the data are described in a narrative synthesis.FindingsSearches identified 18588 articles published 2011-2024, of which 661 met inclusion criteria. 72% were from the USA, 12% from Canada and the remaining 16% from four European countries, South Korea and New Zealand. The studies encompassed individual resident functioning (e.g. mobility, incontinence), health conditions and symptoms (e.g. depression, pain), healthcare in the home (e.g. prescribing, end of life care), hospital attendances and admissions, transitions to and from care homes, quality of care and systemwide issues. Measures used reflected the content of the major MDSs, but there was a mismatch between the importance of some topics to care homes (e.g. incontinence) and the range of published papers, and limited consensus over how to measure quality of life.ConclusionsCare home MDSs are a unique resource to support study of care home residents and impact of interventions over time. They are a powerful resource when linked to other datasets, and as an adjunct to primary data collection This analysis may serve as an accessible guide to the content and applications of MDS, allowing researchers to consider the sort of questions that can be posed and the different components of resident care or experience that can be evaluated.
High burden of chronic kidney disease of unknown cause among patients receiving renal replacement therapy in Northeast Nigeria: A cross-sectional survey of haemodialysis units
Authors: Goni Baba Waru , Kwairanga Hamidu Suleiman , Abdu Aliyu , Ummate Ibrahim , Abdu Alhaji , Ba’aba Ahmed Ibrahim , Sulaiman Mohammad Maina , Umar Loskurima , Gana M.L , Abdulkadir Aliyu , Musa Sabiu , Adamu Shatuwa , Usman Idris A. , Sabo Hauwa Alhaji , Abubakar Idris Musa , Adam Hamza Bukar , Umar Ismail Alhaji , Papka Ayabaryu , Mustapha Modu , Saad Yauba Mohammed , Oomatia Amin , Maina Mahmoud Bukar , Pearce Neil , Caplin Ben 
Published: June 2024

ABSTRACTIntroductionChronic kidney disease (CKD) is emerging as a significant public health concern in northeastern Nigeria, particularly in states such as Yobe and Borno. Despite its increasing impact, there is a lack of data characterizing this public health issue. This study aims to explore the prevalence, spatial distribution, and risk factors for CKD among patients receiving haemodialysis (HD) in the region.MethodologyA cross-sectional survey of HD centres in Yobe, Borno, and Jigawa States of Nigeria was conducted. Questionnaire responses were obtained on demographic, social, and clinical data. Spatial analyses were conducted to determine the geographic distribution of the cases.ResultsWe identified 376 patients receiving HD services across 4 centres. Of these, 207 (55.1%) were male and the mean age was 46.56 ± 16.4. Most patients reside in urban areas (67.6%). The main pre-dialysis occupations included civil service (100 [26.6%]), agriculture (65 [17.3%]), and trading (58 [15.4%]). ‘Hypertension’ (195 [51.9%]) was the most common self-reported primary renal disease, followed by unknown causes (70 [18.6%]) and Diabetic Kidney Disease (30 [8%]). Regional analysis demonstrated a particularly high burden of disease in Bade and Jakusko Local Government Areas.Discussion and ConclusionSpatial analysis suggests the existence of a CKD hotspot geographically associated with communities along the River Yobe, raising the possibility of an important environmental cause of disease. This study also highlights the lack of access to adequate diagnosis and geographical clustering of CKD burden in this region. These findings further reinforce the need for population-representative studies to characterize the burden of CKD alongside strategic healthcare interventions and collaboration among stakeholders aimed at improving access to care.
Opportunities for more powerful statistical analyses of ordinal scales: A scoping review of neurological trials
Authors: Long Yongxi , de Ruiter Sophie C. , Luijten Linda W.G. , Wiegers Eveline J.A. , Dippel Diederik W.J. , van Doorn Pieter A. , Jacobs Bart C. , Steyerberg Ewout W. 
Published: June 2024

AbstractBackground and ObjectivesOrdinal scales are widely adopted as outcome measures in neurological randomized controlled trials (RCTs). There have been extensive discussions about appropriate statistical analysis strategies of ordinal neurological outcomes. We aimed to evaluate which statistical methods have been used to test and estimate treatment effects from ordinal outcomes in recent RCTs across a range of acute neurological diseases.MethodsWe searched for RCTs in five acute monophasic neurological diseases (stroke, traumatic brain injury (TBI), subarachnoid hemorrhage (SAH), meningitis, and Guillain-Barré Syndrome (GBS)) published in high-impact journals between January 1, 2015 and November 1, 2023. Trials had to report on an ordinal scale as the primary or secondary outcome. Two independent reviewers assessed whether/how investigators (1) delt with the ordinal nature of outcomes, (2) assessed and reported key assumptions,(3)utilized longitudinal measurements, (4) adjusted for prognostic variables.ResultsWe included 70 RCTs for treatment evaluations in stroke (n=36), TBI (n=13), SAH (n=10), meningitis (n=7), and GBS (n=4). In 46/70 (66%) trials, investigators retained the full ordering information, commonly analyzed by a proportional odds model (33/46 trials, 72%). The proportional odds assumption was not addressed in 23/33 (62%) of these trials. In 22/70 (31%) trials, the ordinal outcome was dichotomized, with notable disagreement on the cut-point within neurological diseases. In 41/70 (59%) trials, the ordinal outcome was assessed at multiple time points, while some form of longitudinal data analysis was performed in only three (7%) of these 41 studies. The time point chosen for analysis was inconsistent within neurological diseases.DiscussionThe current practice of analyzing ordinal outcomes is often suboptimal in neurological trials according to modern statistical standards. Dichotomization and focus on a single arbitrary time point are still common, while more efficient analysis strategies exist. Further research needs to clarify the balance between maximizing the statistical power and assumptions made in approaches that better leverage ordinal information.
Reappraisal of SU(3)-flavor breaking in
B→DP
Authors: Davies Jonathan , Schacht Stefan , Skidmore Nicola , Soni Amarjit 
Published: June 2024

In light of recently found deviations of the experimental data from predictions from QCD factorization for B(s)→D(s)P decays, where P={π,K}, we systematically probe the current status of the SU(3)F expansion from a fit to experimental branching ratio data without any further theory input. We find that the current data are in agreement with the power counting of the SU(3)F expansion. While the SU(3)F limit is excluded at >5σ, amplitude-level SU(3)F-breaking contributions of ∼20% suffice for an excellent description of the data. SU(3)F breaking is needed in tree (>5σ) and color-suppressed tree (2.4σ) diagrams. We are not yet sensitive to SU(3)F breaking in exchange diagrams. From the underlying SU(3)F parametrization we predict the unmeasured branching ratios B(B¯s0→π−D+)=2B(B¯s0→π0D0)=[0.3,7.2]×10−6 of suppressed decays that can be searched for at the LHCb experiment.

Published by the American Physical Society
2024
Reactor neutrino background in next-generation dark matter detectors
Authors: Sierra D. Aristizabal , De Romeri V. , Ternes C. A. 
Published: June 2024

Third-generation dark matter detectors will be fully sensitive to the B8 solar neutrino flux. Because of this, the characterization of such a background has been the subject of extensive analyses over the last few years. In contrast, little is known about the impact of reactor neutrinos. In this paper, we report on the implications of such a flux for dark matter direct-detection searches. We consider five potential detector deployment sites envisioned by the recently established XLZD Consortium: SURF, SNOLAB, Kamioka, LNGS, and Boulby. By using public reactor data, we construct five reactor clusters—involving about 100 currently operating commercial nuclear reactors each—and determine the net neutrino flux at each detector site. Assuming a xenon-based detector and a 50 ton-year exposure, we show that in all cases the neutrino event rate may be sizable, depending on energy recoil thresholds. Of all possible detector sites, SURF and LNGS are those with the smallest reactor neutrino background. On the contrary, SNOLAB and Boulby are subject to the strongest reactor neutrino fluxes, with Kamioka being subject to a more moderate background. Our findings demonstrate that reactor neutrino fluxes should be taken into account in the next round of dark matter searches. We argue that this background may be particularly relevant for directional detectors, provided they meet the requirements we have employed in this analysis.

Published by the American Physical Society
2024
Illuminating all-hadronic final states with a photon: Exotic decays of the Higgs boson to four bottom quarks in vector boson fusion plus gamma at hadron colliders
Authors: Roche Stephen T. , Carlson Benjamin T. , Hayes Christopher R. , Hong Tae Min 
Published: June 2024

We investigate the potential to detect Higgs boson decays to four bottom quarks through a pair of pseudoscalars, a final state that is predicted by many theories beyond the Standard Model. For the first time, the signal sensitivity is evaluated for the final state using the vector boson fusion (VBF) production with and without an associated photon, for the Higgs at mH=125  GeV, at hadron colliders. The signal significance is 0.5σ to 6σ, depending on the pseudoscalar mass ma, when setting the Higgs decay branching ratio to unity, using an integrated luminosity of 150  fb−1 at s=13  TeV. This corresponds to an upper limit of 0.3, on the Higgs branching ratio to four bottom quarks, with a nonobservation of the decay. We also consider several variations of selection requirements—input variables for the VBF tagging and the kinematic variables for the photon—that could help guide the design of new triggers for the Run-3 period of the LHC and for the HL-LHC.

Published by the American Physical Society
2024